# CWC27

> Gene · canonical: https://sugi.bio/atlas/gene/CWC27/
> Atlas v1.12.2 · generated 2026-10-13T13:32:47+00:00

## Summary

**CWC27** (CWC27 spliceosome associated cyclophilin, HGNC:10664) is a protein-coding gene on chromosome 5q12.3, encoding **Spliceosome-associated protein CWC27 homolog** (Q6UX04). As part of the spliceosome, plays a role in pre-mRNA splicing.

Predicted to enable peptidyl-prolyl cis-trans isomerase activity. Predicted to be involved in mRNA splicing, via spliceosome. Located in nucleoplasm. Part of U2-type precatalytic spliceosome and catalytic step 2 spliceosome.

*Source: [NCBI Gene 10283](https://www.ncbi.nlm.nih.gov/gene/10283) — automated summary from GO annotations (Alliance of Genome Resources).*

**At a glance**

- **Gene–disease (curated):** metaphyseal chondrodysplasia-retinitis pigmentosa syndrome (Definitive, ClinGen)
- **GWAS associations:** 34 (top 3% of genes corpus-wide)
- **Clinical variants (ClinVar):** 477 total — 28 pathogenic, 22 likely-pathogenic (top 7% of genes corpus-wide)
- **Regional missense constraint (gnomAD):** 1 of 3 regions constrained (≈6% of expected missense variation)
- **GTEx eGene:** eQTL in 15 tissues, sQTL in 41 (q < 0.05)
- **Phenotypes (HPO):** 65
- **ChEMBL bioactivity:** 1 clinical-phase molecule tested; no curated mechanism-of-action drug
- **Constraint (gnomAD):** pLI 0.00 (LoF-tolerant), LOEUF 1.18 (unconstrained)
- **MANE Select transcript:** `NM_005869`




## Identifiers

### Gene identifiers

| Field | Value |
| --- | --- |
| HGNC ID | HGNC:10664 |
| Approved symbol | CWC27 |
| Name | CWC27 spliceosome associated cyclophilin |
| Location | 5q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NY-CO-10, SDCCAG-10 |
| Ensembl gene | ENSG00000153015 |
| Ensembl biotype | protein_coding |
| OMIM | 617170 |
| Entrez | 10283 |

## Gene structure

### Transcript identifiers

**Ensembl transcripts: 32** — 19 protein_coding, 6 retained_intron, 4 protein_coding_CDS_not_defined, 3 nonsense_mediated_decay

**MANE Select:** `ENST00000381070`

**Transcript support level (Ensembl TSL; 1 = fully mRNA-supported):** TSL 1: 2, TSL 2: 2, TSL 5: 1

`ENST00000381070`, `ENST00000485990`, `ENST00000506168`, `ENST00000508024`, `ENST00000545000`, `ENST00000607786`, `ENST00000685023`, `ENST00000685147`, `ENST00000685234`, `ENST00000686041`, `ENST00000687101`, `ENST00000687188`, `ENST00000687314`, `ENST00000688107`, `ENST00000688318`, `ENST00000688564`, `ENST00000688896`, `ENST00000689534`, `ENST00000689574`, `ENST00000691921`, `ENST00000692005`, `ENST00000692572`, `ENST00000692660`, `ENST00000692763`, `ENST00000693121`, `ENST00000693303`, `ENST00000693571`, `ENST00000693640`, `ENST00000693660`, `ENST00001035813`, `ENST00001078276`, `ENST00001135135`

**RefSeq mRNA: 5** — MANE Select: `NM_005869`
`NM_001297644`, `NM_001297645`, `NM_001318000`, `NM_001364478`, `NM_005869`

**CCDS:** `CCDS3982`, `CCDS75252`, `CCDS93718`, `CCDS93719`, `CCDS93720`

#### Canonical transcript exons

`ENST00000381070` — 14 exons

| Exon | Start | End |
| --- | --- | --- |
| ENSE00001008355 | 64800248 | 64800327 |
| ENSE00001149201 | 64804229 | 64804386 |
| ENSE00001487414 | 64768930 | 64769188 |
| ENSE00001850478 | 65018159 | 65018750 |
| ENSE00003468977 | 64788951 | 64789020 |
| ENSE00003500695 | 64885443 | 64885546 |
| ENSE00003522928 | 64774691 | 64774787 |
| ENSE00003546185 | 64971703 | 64971812 |
| ENSE00003550097 | 64801302 | 64801332 |
| ENSE00003569576 | 64783836 | 64783979 |
| ENSE00003572630 | 64785481 | 64785579 |
| ENSE00003582136 | 64781921 | 64782033 |
| ENSE00003662026 | 64977135 | 64977238 |
| ENSE00003694653 | 64786524 | 64786627 |

### Expression profiles

**Bgee:** expression breadth **ubiquitous**, 253 present calls, max score 98.00.

**FANTOM5 (CAGE):** breadth **ubiquitous**, TPM avg 25.8671 / max 932.9849, expressed in 1789 samples.

**Highest expression (Bgee):** tendon of biceps brachii, medial globus pallidus, globus pallidus, tendon, ganglionic eminence.

#### Genetic regulation across tissues (GTEx eQTL / sQTL)

CWC27 is an **eGene** in GTEx v10 — its expression is genetically regulated (eQTL) in **15** tissues and its splicing (sQTL) in **41** (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant's alternative allele.

showing 20 of 56 significant tissue × QTL associations:

| Tissue | QTL | q-value | Slope | Lead variant |
| --- | --- | --- | --- | --- |
| Esophagus Muscularis | sqtl | 7.6e-31 | +0.84 | 5:64975734:A:C |
| Artery Tibial | sqtl | 9.9e-31 | +0.72 | 5:64976601:T:C |
| Cells Cultured fibroblasts | sqtl | 1.4e-29 | +0.65 | 5:64957013:G:A |
| Testis | eqtl | 2.2e-29 | +0.28 | 5:64880092:A:G |
| Esophagus Gastroesophageal Junction | sqtl | 2.5e-25 | +0.83 | 5:64944631:G:A |
| Nerve Tibial | sqtl | 2.5e-24 | +0.64 | 5:64977191:G:A |
| Artery Aorta | sqtl | 3.6e-23 | +0.74 | 5:64944631:G:A |
| Colon Sigmoid | sqtl | 3.5e-20 | +0.77 | 5:64963750:C:T |
| Brain Frontal Cortex BA9 | sqtl | 1.5e-19 | +1.00 | 5:64944631:G:A |
| Adipose Visceral Omentum | sqtl | 1.8e-17 | +0.55 | 5:64982178:A:G |
| Testis | sqtl | 1.3e-16 | +0.57 | 5:64846088:G:A |
| Brain Putamen basal ganglia | sqtl | 8.5e-16 | +0.77 | 5:64976601:T:C |
| Colon Transverse | sqtl | 2.0e-15 | +0.58 | 5:64980066:C:T |
| Brain Nucleus accumbens basal ganglia | sqtl | 4.6e-14 | +0.84 | 5:64953073:A:G |
| Brain Cortex | sqtl | 5.4e-14 | +0.98 | 5:64976601:T:C |
| Thyroid | sqtl | 1.6e-13 | +0.45 | 5:64957013:G:A |
| Brain Hippocampus | sqtl | 2.2e-13 | +0.89 | 5:64976601:T:C |
| Brain Caudate basal ganglia | sqtl | 1.5e-12 | +0.75 | 5:64944631:G:A |
| Esophagus Mucosa | sqtl | 6.1e-12 | +0.42 | 5:64963750:C:T |
| Cells EBV-transformed lymphocytes | sqtl | 7.5e-12 | +0.75 | 5:64975734:A:C |

#### FANTOM5 promoters

3 alternative TSS:

| Promoter ID | TPM avg | Samples expressed |
| --- | --- | --- |
| 56677 | 24.8542 | 1789 |
| 56679 | 0.6255 | 265 |
| 56680 | 0.3875 | 101 |

#### Top tissues by expression

showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):

| Tissue | Anatomy ID | Expression score | Quality |
| --- | --- | --- | --- |
| tendon of biceps brachii | UBERON:0008188 | 98.00 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.91 | gold quality |
| globus pallidus | UBERON:0001875 | 94.73 | gold quality |
| tendon | UBERON:0000043 | 93.76 | gold quality |
| ganglionic eminence | UBERON:0004023 | 93.74 | gold quality |
| cortical plate | UBERON:0005343 | 93.04 | gold quality |
| seminal vesicle | UBERON:0000998 | 93.01 | gold quality |
| ventricular zone | UBERON:0003053 | 92.11 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.75 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 91.74 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 91.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 91.44 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.40 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.66 | gold quality |
| parietal lobe | UBERON:0001872 | 90.60 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 90.54 | gold quality |
| entorhinal cortex | UBERON:0002728 | 90.09 | gold quality |
| islet of Langerhans | UBERON:0000006 | 89.69 | gold quality |
| monocyte | CL:0000576 | 89.64 | gold quality |
| left testis | UBERON:0004533 | 89.51 | gold quality |
| leukocyte | CL:0000738 | 89.33 | gold quality |
| testis | UBERON:0000473 | 89.21 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.13 | gold quality |
| pylorus | UBERON:0001166 | 89.13 | gold quality |
| right testis | UBERON:0004534 | 88.94 | gold quality |
| primary visual cortex | UBERON:0002436 | 88.91 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 88.86 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 88.76 | gold quality |
| corpus callosum | UBERON:0002336 | 88.66 | gold quality |
| tibialis anterior | UBERON:0001385 | 88.61 | silver quality |
| occipital lobe | UBERON:0002021 | 88.42 | gold quality |
| putamen | UBERON:0001874 | 88.38 | gold quality |
| pericardium | UBERON:0002407 | 88.32 | gold quality |
| parietal pleura | UBERON:0002400 | 88.27 | gold quality |
| deltoid | UBERON:0001476 | 88.14 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.05 | gold quality |
| cardiac ventricle | UBERON:0002082 | 88.03 | gold quality |
| heart left ventricle | UBERON:0002084 | 88.01 | gold quality |
| nucleus accumbens | UBERON:0001882 | 87.94 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 87.86 | gold quality |
| substantia nigra | UBERON:0002038 | 87.83 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 87.82 | gold quality |
| Ammon's horn | UBERON:0001954 | 87.81 | gold quality |
| temporal lobe | UBERON:0001871 | 87.80 | gold quality |
| caudate nucleus | UBERON:0001873 | 87.79 | gold quality |
| hypothalamus | UBERON:0001898 | 87.66 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 87.57 | gold quality |
| visceral pleura | UBERON:0002401 | 87.56 | gold quality |
| medulla oblongata | UBERON:0001896 | 87.55 | gold quality |
| gastrocnemius | UBERON:0001388 | 87.49 | gold quality |
| amygdala | UBERON:0001876 | 87.49 | gold quality |
| muscle of leg | UBERON:0001383 | 87.46 | gold quality |
| midbrain | UBERON:0001891 | 87.44 | gold quality |
| spinal cord | UBERON:0002240 | 87.39 | gold quality |
| ventral tegmental area | UBERON:0002691 | 87.38 | gold quality |
| heart right ventricle | UBERON:0002080 | 87.36 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 87.31 | gold quality |
| cerebral cortex | UBERON:0000956 | 87.30 | gold quality |
| renal medulla | UBERON:0000362 | 87.29 | gold quality |
| heart | UBERON:0000948 | 87.26 | gold quality |
| forebrain | UBERON:0001890 | 87.18 | gold quality |
| biceps brachii | UBERON:0001507 | 87.15 | gold quality |
| sural nerve | UBERON:0015488 | 87.12 | gold quality |
| bone marrow cell | CL:0002092 | 87.09 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 87.05 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.03 | gold quality |
| right atrium auricular region | UBERON:0006631 | 86.91 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 86.85 | gold quality |
| neocortex | UBERON:0001950 | 86.85 | gold quality |
| apex of heart | UBERON:0002098 | 86.83 | gold quality |
| brain | UBERON:0000955 | 86.80 | gold quality |
| cardiac atrium | UBERON:0002081 | 86.73 | gold quality |
| tibial artery | UBERON:0007610 | 86.72 | gold quality |
| popliteal artery | UBERON:0002250 | 86.71 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 86.61 | gold quality |
| amniotic fluid | UBERON:0000173 | 86.57 | gold quality |
| frontal cortex | UBERON:0001870 | 86.48 | gold quality |
| mammary duct | UBERON:0001765 | 86.46 | gold quality |
| quadriceps femoris | UBERON:0001377 | 86.45 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 86.43 | gold quality |
| rectum | UBERON:0001052 | 86.41 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.38 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 86.37 | gold quality |
| bone marrow | UBERON:0002371 | 86.36 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 86.34 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.31 | gold quality |
| aorta | UBERON:0000947 | 86.30 | gold quality |
| vastus lateralis | UBERON:0001379 | 86.29 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 86.24 | gold quality |
| lower esophagus | UBERON:0013473 | 86.23 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 86.19 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 86.11 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 86.09 | gold quality |
| superficial temporal artery | UBERON:0001614 | 86.07 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 86.07 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.99 | gold quality |
| thymus | UBERON:0002370 | 85.96 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 85.92 | gold quality |
| muscle tissue | UBERON:0002385 | 85.91 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.87 | gold quality |

#### Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

| Experiment | Marker? | Max mean expression |
| --- | --- | --- |
| [E-ANND-3](https://www.ebi.ac.uk/gxa/sc/experiments/E-ANND-3) | yes | 4.74 |
| [E-CURD-112](https://www.ebi.ac.uk/gxa/sc/experiments/E-CURD-112) | no | 2.66 |

#### HPA expression

RNA tissue specificity: **Low tissue specificity**

showing 60 of 79 HPA tissues / cells by nTPM:

| Tissue / cell | Axis | nTPM | Protein (IHC) |
| --- | --- | --- | --- |
| Postcentral gyrus | tissue | 44.2 |  |
| Nucleus accumbens | tissue | 39.5 |  |
| Hippocampus | tissue | 36.0 | low |
| Choroid plexus | tissue | 32.2 |  |
| Locus coeruleus | tissue | 31.2 |  |
| Tongue | tissue | 26.3 |  |
| Skeletal muscle | tissue | 23.0 | medium |
| Bone marrow | tissue | 22.4 | high |
| Cerebellum | tissue | 21.6 | low |
| Thymus | tissue | 21.2 |  |
| Corpus callosum | tissue | 20.4 |  |
| Heart muscle | tissue | 18.7 | low |
| Ovary | tissue | 18.7 | medium |
| Olfactory bulb | tissue | 18.3 |  |
| Parathyroid gland | tissue | 16.6 | high |
| Putamen | tissue | 16.6 |  |
| Basal ganglia | tissue | 16.5 | low |
| Hippocampal formation | tissue | 16.4 |  |
| Septum | tissue | 16.1 |  |
| Periaqueductal gray | tissue | 16.0 |  |
| Ventral forebrain | tissue | 15.9 |  |
| Tonsil | tissue | 15.6 | medium |
| Spinal cord | tissue | 15.5 |  |
| Cerebral cortex | tissue | 15.4 | medium |
| Medulla oblongata | tissue | 15.4 |  |
| Retrosplenial and cingulate cortex | tissue | 15.4 |  |
| Lymph node | tissue | 15.3 | medium |
| Testis | tissue | 15.2 | high |
| Endometrium 1 | tissue | 15.2 | medium |
| Temporal cortex | tissue | 15.2 |  |
| Occipital cortex | tissue | 15.2 |  |
| Retrosplenial cortex | tissue | 15.1 |  |
| Prefrontal cortex | tissue | 15.0 |  |
| Amygdala | tissue | 15.0 |  |
| Entorhinal cortex | tissue | 15.0 |  |
| Midbrain | tissue | 14.8 |  |
| Substantia nigra | tissue | 14.8 |  |
| Motor cortex | tissue | 14.7 |  |
| Insular cortex | tissue | 14.7 |  |
| Rectum | tissue | 14.6 | high |
| Hypothalamus | tissue | 14.2 |  |
| Placenta | tissue | 14.2 | high |
| Smooth muscle | tissue | 14.1 | medium |
| Somatosensory cortex | tissue | 14.0 |  |
| Thalamus | tissue | 13.8 |  |
| Thyroid gland | tissue | 13.7 | high |
| Kidney | tissue | 13.7 | high |
| Pons | tissue | 13.5 |  |
| Prostate | tissue | 13.5 | low |
| Superior colliculi | tissue | 13.3 |  |
| Adipose tissue | tissue | 13.2 | not detected |
| Breast | tissue | 13.1 | low |
| Urinary bladder | tissue | 13.1 | high |
| Appendix | tissue | 13.0 | medium |
| Adrenal gland | tissue | 12.9 | high |
| Colon | tissue | 12.8 | high |
| Spleen | tissue | 12.7 | not detected |
| Epididymis | tissue | 12.4 | low |
| Seminal vesicle | tissue | 12.1 | low |
| Esophagus | tissue | 12.1 | high |

**Brain sub-regions (HPA Brain Atlas):** detected in 192; highest nTPM — Flocculonodular lobe (52.8), Vermis (51.9), Cerebellar cortex (51.5), Area striata (43.2), Parieto-temporal junction (white matter) (43.2).

### Regulation

**Is transcription factor: no**

**Upstream regulators (CollecTRI, top):** TAL1

#### miRNA regulators (miRDB)

Targeting CWC27 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 34 miRNAs:

| miRNA | Max score | Avg score | miRNA target_count |
| --- | --- | --- | --- |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-1197 | 99.70 | 67.75 | 1027 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-3606-5P | 99.31 | 69.67 | 1168 |
| HSA-MIR-5582-5P | 99.27 | 71.42 | 1879 |
| HSA-MIR-5100 | 99.11 | 67.52 | 1098 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-3922-5P | 98.77 | 66.53 | 1059 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-4766-3P | 98.48 | 67.94 | 1347 |
| HSA-MIR-5681A | 97.99 | 67.17 | 1658 |
| HSA-MIR-4778-5P | 97.96 | 68.06 | 1634 |
| HSA-MIR-3614-3P | 97.81 | 67.15 | 582 |

### Functional genomics

**gnomAD constraint:** pLI 4.16e-06, LOEUF 1.18, missense Z 0.755 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). [gnomAD](https://gnomad.broadinstitute.org/)

#### Regional missense constraint (gnomAD)

`ENST00000381070` splits into 3 regions with different missense tolerance; **1 is missense-constrained** (≈6% of the expected missense variation). Missense variants in a constrained region (low observed/expected) are more likely to be pathogenic. [gnomAD](https://gnomad.broadinstitute.org/)

| Region (GRCh38) | Missense obs / exp | o/e | Constrained |
| --- | --- | --- | --- |
| 5:64,769,147–65,018,169 | 463 / 498.1 | 0.93 | no |
| 5:65,018,170–65,018,255 | 12 / 34.1 | 0.35 | yes (p 1.5e-04) |
| 5:65,018,256–65,018,318 | 20 / 22.1 | 0.91 | no |

### Literature-anchored findings (GeneRIF, showing 5)

- The crystal structure of a relatively protease-resistant N-terminal fragment of human Cwc27 containing the cyclophilin-type peptidyl-prolyl cis-trans isomerase domain was determined at 2.0 A resolution. (PMID:25478830)
- CWC27 overexpression is associated with Bladder Cancer. (PMID:27206850)
- By whole-exome sequencing, recessive protein-truncating mutations in CWC27 were found in seven unrelated families that show a range of clinical phenotypes, including retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologic defects. (PMID:28285769)
- Structural and functional insights into CWC27/CWC22 heterodimer linking the exon junction complex to spliceosomes. (PMID:32329775)
- Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. (PMID:36718996)

### Cross-species orthologs

**5 orthologs**

| Organism | Symbol | Gene ID |
| --- | --- | --- |
| danio_rerio | cwc27 | ENSDARG00000043727 |
| mus_musculus | Cwc27 | ENSMUSG00000021715 |
| rattus_norvegicus | Cwc27 | ENSRNOG00000013252 |
| drosophila_melanogaster | CG10907 | FBGN0036207 |
| caenorhabditis_elegans |  | WBGENE00000892 |

**Paralogs (22):** PPIE (ENSG00000084072), PPIL2 (ENSG00000100023), PPIF (ENSG00000108179), PPWD1 (ENSG00000113593), NKTR (ENSG00000114857), PPIL4 (ENSG00000131013), PPIL1 (ENSG00000137168), PPIG (ENSG00000138398), PPIB (ENSG00000166794), PPIC (ENSG00000168938), PPID (ENSG00000171497), PPIH (ENSG00000171960), PPIL6 (ENSG00000185250), PPIA (ENSG00000196262), PPIAL4G (ENSG00000236334), PPIL3 (ENSG00000240344), PPIAL4A (ENSG00000263353), PPIAL4H (ENSG00000270339), PPIAL4E (ENSG00000271567), PPIAL4F (ENSG00000279782), PPIAL4C (ENSG00000288867), PPIAL4D (ENSG00000289549)

#### Mouse-model phenotypes

Observed phenotypes of the mouse ortholog ([MGI:1914535](https://www.informatics.jax.org/marker/MGI:1914535)) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 11 distinct phenotype terms.

| Mouse phenotype (MP) | Records |
| --- | --- |
| preweaning lethality, incomplete penetrance | 2 |
| postnatal growth retardation | 1 |
| abnormal immune system physiology | 1 |
| abnormal retina photoreceptor layer morphology | 1 |
| abnormal behavior | 1 |
| thin retina outer plexiform layer | 1 |
| abnormal blood homeostasis | 1 |
| prenatal growth retardation | 1 |
| decreased total retina thickness | 1 |
| decreased a-wave amplitude | 1 |
| decreased b-wave amplitude | 1 |

#### Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara's model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions' gene symbols aren't in biobtree yet, so each row shows the UniProt accession.

| Organism | UniProt | Identity | Method |
| --- | --- | --- | --- |
| Escherichia coli K-12 | [P0AFL3](https://www.uniprot.org/uniprotkb/P0AFL3/entry) | 100.0% | Diamond |
| Escherichia coli CFT073 | [P0AFL4](https://www.uniprot.org/uniprotkb/P0AFL4/entry) | 100.0% | Diamond |
| Escherichia coli O157:H7 | [P0AFL5](https://www.uniprot.org/uniprotkb/P0AFL5/entry) | 100.0% | Diamond |
| Cryptococcus deneoformans JEC21 | [P0CP84](https://www.uniprot.org/uniprotkb/P0CP84/entry) | 100.0% | Diamond |
| Cryptococcus deneoformans B-3501A | [P0CP85](https://www.uniprot.org/uniprotkb/P0CP85/entry) | 100.0% | Diamond |
| Mycobacterium tuberculosis variant bovis AF2122/97 | [P65763](https://www.uniprot.org/uniprotkb/P65763/entry) | 100.0% | Diamond |
| Mycobacterium tuberculosis CDC1551 | [P9WHW2](https://www.uniprot.org/uniprotkb/P9WHW2/entry) | 100.0% | Diamond |
| Mycobacterium tuberculosis H37Rv | [P9WHW3](https://www.uniprot.org/uniprotkb/P9WHW3/entry) | 100.0% | Diamond |
| Bos taurus | [Q5E992](https://www.uniprot.org/uniprotkb/Q5E992/entry) | 100.0% | Diamond |
| Pongo abelii | [Q5NVL7](https://www.uniprot.org/uniprotkb/Q5NVL7/entry) | 98.9% | Diamond |
| Macaca fascicularis | [Q4R713](https://www.uniprot.org/uniprotkb/Q4R713/entry) | 98.3% | Diamond |
| Salmonella enterica subsp. enterica serovar Typhimurium str. LT2 | [P20753](https://www.uniprot.org/uniprotkb/P20753/entry) | 95.8% | Diamond |
| Helicobacter pylori 26695 | [O25982](https://www.uniprot.org/uniprotkb/O25982/entry) | 95.7% | Diamond |
| Helicobacter pylori J99 | [Q9ZJH5](https://www.uniprot.org/uniprotkb/Q9ZJH5/entry) | 95.7% | Diamond |
| Gallus gallus | [Q5ZLV2](https://www.uniprot.org/uniprotkb/Q5ZLV2/entry) | 95.6% | Diamond |
| Aspergillus oryzae RIB40 | [Q2U6U0](https://www.uniprot.org/uniprotkb/Q2U6U0/entry) | 93.8% | Diamond |
| Aspergillus nidulans FGSC A4 | [Q5ASQ0](https://www.uniprot.org/uniprotkb/Q5ASQ0/entry) | 93.8% | Diamond |
| Aspergillus fumigatus Af293 | [Q4WCR3](https://www.uniprot.org/uniprotkb/Q4WCR3/entry) | 93.2% | Diamond |
| Aspergillus niger | [Q8X191](https://www.uniprot.org/uniprotkb/Q8X191/entry) | 93.0% | Diamond |
| Mycobacterium leprae TN | [Q9CDE9](https://www.uniprot.org/uniprotkb/Q9CDE9/entry) | 90.1% | Diamond |
| Fusarium graminearum PH-1 | [Q4I1Y1](https://www.uniprot.org/uniprotkb/Q4I1Y1/entry) | 80.4% | Diamond |
| Neurospora crassa OR74A | [Q7SF72](https://www.uniprot.org/uniprotkb/Q7SF72/entry) | 79.4% | Diamond |
| Dickeya dadantii 3937 | [O53021](https://www.uniprot.org/uniprotkb/O53021/entry) | 78.3% | Diamond |
| Schizosaccharomyces pombe 972h- | [P87051](https://www.uniprot.org/uniprotkb/P87051/entry) | 73.3% | Diamond |
| Rhizopus delemar RA 99-880 | [P0C1I5](https://www.uniprot.org/uniprotkb/P0C1I5/entry) | 73.1% | Diamond |
| Arabidopsis thaliana | [Q9LPC7](https://www.uniprot.org/uniprotkb/Q9LPC7/entry) | 73.0% | Diamond |
| Dictyostelium discoideum | [Q54E95](https://www.uniprot.org/uniprotkb/Q54E95/entry) | 71.1% | Diamond |
| Haemophilus influenzae Rd KW20 | [P44499](https://www.uniprot.org/uniprotkb/P44499/entry) | 70.2% | Diamond |
| Mycosarcoma maydis | [Q4PCH8](https://www.uniprot.org/uniprotkb/Q4PCH8/entry) | 70.1% | Diamond |
| Xenopus laevis | [Q6GLX7](https://www.uniprot.org/uniprotkb/Q6GLX7/entry) | 67.2% | Diamond |
| Pseudomonas aeruginosa PAO1 | [Q59641](https://www.uniprot.org/uniprotkb/Q59641/entry) | 64.1% | Diamond |
| Acinetobacter baylyi ADP1 | [P42693](https://www.uniprot.org/uniprotkb/P42693/entry) | 63.9% | Diamond |
| Streptococcus pyogenes MGAS10394 | [Q5XAQ1](https://www.uniprot.org/uniprotkb/Q5XAQ1/entry) | 63.8% | Diamond |
| Streptomyces anulatus | [P77949](https://www.uniprot.org/uniprotkb/P77949/entry) | 63.3% | Diamond |
| Synechococcus elongatus PCC 7942 = FACHB-805 | [P29820](https://www.uniprot.org/uniprotkb/P29820/entry) | 63.1% | Diamond |
| Bacillus subtilis subsp. subtilis str. 168 | [P35137](https://www.uniprot.org/uniprotkb/P35137/entry) | 59.6% | Diamond |
| Synechocystis sp. PCC 6803 substr. Kazusa | [P72704](https://www.uniprot.org/uniprotkb/P72704/entry) | 54.2% | Diamond |
| Yarrowia lipolytica CLIB122 | [Q6CGK4](https://www.uniprot.org/uniprotkb/Q6CGK4/entry) | 44.2% | Diamond |
| Debaryomyces hansenii CBS767 | [Q6BWH6](https://www.uniprot.org/uniprotkb/Q6BWH6/entry) | 41.8% | Diamond |

### Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

| Symbol | Type | Entrez |
| --- | --- | --- |
| [SREK1IP1](/atlas/gene/SREK1IP1/) | protein-coding | 285672 |
| [ADAMTS6](/atlas/gene/ADAMTS6/) | protein-coding | 11174 |
| [CENPK](/atlas/gene/CENPK/) | protein-coding | 64105 |
| [SHISAL2B](/atlas/gene/SHISAL2B/) | protein-coding | 100132916 |

<a id="protein-Q6UX04"></a>

## Protein

### Protein identifiers

**Spliceosome-associated protein CWC27 homolog** — `Q6UX04` (reviewed: Q6UX04)

**Alternative names:** Antigen NY-CO-10, Probable inactive peptidyl-prolyl cis-trans isomerase CWC27 homolog, Serologically defined colon cancer antigen 10

**All UniProt accessions (19):** `Q6UX04`, `A0A8I5KP30`, `A0A8I5KP46`, `A0A8I5KPF6`, `A0A8I5KQK1`, `A0A8I5KQW2`, `A0A8I5KRF5`, `A0A8I5KRH9`, `A0A8I5KST0`, `A0A8I5KT14`, `A0A8I5KU89`, `A0A8I5KUR8`, `A0A8I5KUW8`, `A0A8I5KW10`, `A0A8I5KX65`, `A0A8I5KXM7`, `A0A8I5KY88`, `A0A8I5KZ67`, `D6REK3`

#### UniProt curated annotations — [full annotation on UniProt →](https://www.uniprot.org/uniprotkb/Q6UX04/entry)

**Function.** As part of the spliceosome, plays a role in pre-mRNA splicing. Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.

**Subunit / interactions.** Part of the activated spliceosome B/catalytic step 1 spliceosome, one of the forms of the spliceosome which has a well-formed active site but still cannot catalyze the branching reaction and is composed at least of 52 proteins, the U2, U5 and U6 snRNAs and the pre-mRNA. Recruited during early steps of activated spliceosome B maturation, it is probably one of the first proteins released from this complex as he matures to the spliceosome C complex. Component of the minor spliceosome, which splices U12-type introns.

**Subcellular location.** Nucleus.

**Disease relevance.** Retinitis pigmentosa with or without skeletal anomalies (RPSKA) [MIM:250410] An autosomal recessive disease characterized by retinal degeneration, brachydactyly, short stature, craniofacial dysmorphism, and neurologic defects. Retinal defects are consistent with retinitis pigmentosa in most patients. Neurologic manifestations include mild-to-moderate intellectual disability and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry.

**Similarity.** Belongs to the cyclophilin-type PPIase family.

#### Isoforms (2)

| UniProt ID | Names | Canonical? |
| --- | --- | --- |
| Q6UX04-1 | 1 | yes |
| Q6UX04-2 | 2 |  |

**RefSeq proteins (5):** `NP_001284573`, `NP_001284574`, `NP_001304929`, `NP_001351407`, `NP_005860`*  (*=MANE)

#### Domains & families (InterPro)

| ID | Name | Type |
| --- | --- | --- |
| IPR002130 | Cyclophilin-type_PPIase_dom | Domain |
| IPR020892 | Cyclophilin-type_PPIase_CS | Conserved_site |
| IPR029000 | Cyclophilin-like_dom_sf | Homologous_superfamily |
| IPR044666 | Cyclophilin_A-like | Family |
| IPR059998 | CWC27_CTD | Domain |

**Pfam:** `PF00160`

#### Enzyme classification (BRENDA)

- EC 5.2.1.8 — peptidylprolyl isomerase *(BRENDA: 69 organisms, 374 substrates, 222 inhibitors, 24 Km, 30 kcat entries)*

#### Substrate kinetics (BRENDA)

11 substrates with measured Km, best-characterized 11. *Km ranges are aggregated across organisms/conditions.*

| Substrate | Km (mM) | Measurements |
| --- | --- | --- |
| N-SUCCINYL-ALA-GLU-(TRANS)-PRO-PHE-4-NITROANILID | 0.17–0.7 | 5 |
| N-SUCCINYL-ALA-ALA-(CIS)-PRO-PHE-4-NITROANILIDE | 0.104–0.814 | 2 |
| RNASE T1 | 0.0004–0.0006 | 2 |
| SUCCINYL-ALA-ALA-PRO-PHE 4-NITROANILIDE | 0.451–1.247 | 2 |
| SUCCINYL-ALA-LYS-PRO-PHE-4-NITROANILIDE | 0.585–0.788 | 2 |
| ALA-GLY-PSI[CS-N]-PRO-PHE-4-NITROANILIDE | 0.53 | 1 |
| N-SUCCINYL-ALA-LEU-(CIS)-PRO-PHE-4-NITROANILIDE | 0.059 | 1 |
| SUCCINYL-ALA-GLU-PRO-PHE-7-AMIDO-4-METHYLCOUMARI | 0.12 | 1 |
| TRYWNAKMK-(CIS)-PFIFGA | 2 | 1 |
| SUCCINYL-ALA-ALA-(CIS)-PRO-LYS-4-METHYLCOUMARIN- | — | 0 |
| SUCCINYL-ALA-ALA-(CIS)-PRO-PHE 4-METHYLCOUMARIN  | — | 0 |

**UniProt features (51 total):** strand 11, compositionally biased region 8, helix 7, sequence variant 5, turn 5, modified residue 2, glycosylation site 2, splice variant 2, sequence conflict 2, region of interest 2, coiled-coil region 2, initiator methionine 1, chain 1, domain 1

### Structure

#### Experimental structures (PDB)

9 structures by resolution:

| PDB | Title | Method | Resolution (Å) |
| --- | --- | --- | --- |
| 2HQ6 | Structure of the Cyclophilin_CeCYP16-Like Domain of the Serologically Defined Colon … | X-RAY DIFFRACTION | 1.75 |
| 4R3E | Structure of the spliceosomal peptidyl-prolyl cis-trans isomerase Cwc27 from Homo sapiens | X-RAY DIFFRACTION | 2 |
| 7DVQ | Cryo-EM Structure of the Activated Human Minor Spliceosome (minor Bact Complex) | ELECTRON MICROSCOPY | 2.89 |
| 8I0R | The cryo-EM structure of human Bact-I complex | ELECTRON MICROSCOPY | 3 |
| 6YVH | CWC22-CWC27-EIF4A3 Complex | X-RAY DIFFRACTION | 3.19 |
| 6FF4 | human Bact spliceosome core structure | ELECTRON MICROSCOPY | 3.4 |
| 6FF7 | human Bact spliceosome core structure | ELECTRON MICROSCOPY | 4.5 |
| 5Z58 | Cryo-EM structure of a human activated spliceosome (early Bact) at 4.9 angstrom. | ELECTRON MICROSCOPY | 4.9 |
| 5Z56 | cryo-EM structure of a human activated spliceosome (mature Bact) at 5.1 angstrom. | ELECTRON MICROSCOPY | 5.1 |

#### Predicted structure (AlphaFold)

| Model | pLDDT | Fraction very-high |
| --- | --- | --- |
| AF-Q6UX04-F1 | 73.93 | 0.27 |

### Human Protein Atlas

**Protein class:** Metabolic proteins, Predicted membrane proteins, Predicted intracellular proteins, Disease related genes, Human disease related genes, Congenital malformations, Other congenital malformations

**Protein evidence:** Evidence at protein level

**Subcellular location (HPA, imaging):** nucleoplasm

**Antibody reliability (HPA):** IH approved · IF enhanced

### Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. *Source: UniProtKB sequence features.*

#### Post-translational modifications (2)

| Type | Positions |
| --- | --- |
| N-acetylserine | 2 |
| Phosphoserine | 346 |

#### Glycosylation sites (2)

| Type | Positions |
| --- | --- |
| N-linked (glcnac...) asparagine | 109, 201 |

## Function

### Pathways and Gene Ontology

#### Reactome pathways

**2 curated (TAS)** of 5; 1 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

5 pathways:

| ID | Pathway | Evidence |
| --- | --- | --- |
| R-HSA-9918481 | Dengue Virus-Host Interactions ⚕ | curated |
| R-HSA-72163 | mRNA Splicing - Major Pathway | curated |
| R-HSA-8953854 | Metabolism of RNA | — |
| R-HSA-72203 | Processing of Capped Intron-Containing Pre-mRNA | — |
| R-HSA-72172 | mRNA Splicing | — |

**MSigDB gene sets: 301** (showing top):
`GOBP_PROTEIN_MATURATION`, `JAZAG_TGFB1_SIGNALING_DN`, `WANG_LMO4_TARGETS_DN`, `REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA`, `KMCATNNWGGA_UNKNOWN`, `GOBP_RNA_SPLICING`, `GOBP_PROTEIN_FOLDING`, `REACTOME_MRNA_SPLICING`, `FISCHER_DREAM_TARGETS`, `chr5q12`, `ACEVEDO_LIVER_CANCER_UP`, `DANG_BOUND_BY_MYC`, `REACTOME_METABOLISM_OF_RNA`, `GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX`, `GOCC_PRECATALYTIC_SPLICEOSOME`

**GO Biological Process (3):**
mRNA splicing, via spliceosome (GO:0000398), protein folding (GO:0006457), protein peptidyl-prolyl isomerization (GO:0000413)

**GO Molecular Function (2):**
peptidyl-prolyl cis-trans isomerase activity (GO:0003755), isomerase activity (GO:0016853)

**GO Cellular Component (4):**
nucleoplasm (GO:0005654), U2-type precatalytic spliceosome (GO:0071005), catalytic step 2 spliceosome (GO:0071013), nucleus (GO:0005634)

#### Reactome top-level categories

4 top-level categories:

| Category | Pathways |
| --- | --- |
| mRNA Splicing | 1 |
| Dengue Virus Infection | 1 |
| Processing of Capped Intron-Containing Pre-mRNA | 1 |
| Metabolism of RNA | 1 |

#### GO top-level categories

20 GO namespaces:

| Category | Terms |
| --- | --- |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| cellular process | 1 |
| protein maturation | 1 |
| peptidyl-proline modification | 1 |
| cis-trans isomerase activity | 1 |
| catalytic activity, acting on a protein | 1 |
| catalytic activity | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| U2-type spliceosomal complex | 1 |
| U1 snRNP | 1 |
| U2 snRNP | 1 |
| U4/U6 x U5 tri-snRNP complex | 1 |
| precatalytic spliceosome | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
| intracellular membrane-bounded organelle | 1 |

#### Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 3 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

3 experimentally-supported GO terms:

| GO term | NS | Evidence |
| --- | --- | --- |
| [U2-type precatalytic spliceosome](https://amigo.geneontology.org/amigo/term/GO:0071005) | CC | direct assay |
| [catalytic step 2 spliceosome](https://amigo.geneontology.org/amigo/term/GO:0071013) | CC | direct assay |
| [nucleoplasm](https://amigo.geneontology.org/amigo/term/GO:0005654) | CC | direct assay |

### Protein interactions and networks

#### STRING

showing 15 of 1,350 interactions by confidence (×1000):

| Protein A | Protein B | Partner UniProt | Score |
| --- | --- | --- | --- |
| CWC27 | RNF113A | O15541 | 752 |
| CWC27 | CWC25 | Q9NXE8 | 737 |
| CWC27 | CWC22 | Q9HCG8 | 693 |
| CWC27 | YJU2 | Q9BW85 | 691 |
| CWC27 | SNRNP200 | O75643 | 669 |
| CWC27 | SLU7 | O95391 | 654 |
| CWC27 | DHX38 | Q92620 | 634 |
| CWC27 | DHX16 | O60231 | 580 |
| CWC27 | BUD13 | Q9BRD0 | 532 |
| CWC27 | EFTUD2 | Q15029 | 528 |
| CWC27 | PRPF3 | O43395 | 520 |
| CWC27 | PRPF18 | Q99633 | 517 |
| CWC27 | SF3B4 | Q15427 | 486 |
| CWC27 | CDC5L | Q99459 | 476 |
| CWC27 | SF3A2 | Q15428 | 473 |

#### IntAct

Human interaction partners of CWC27 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

| Partner | Interaction type | MIscore | Records |
| --- | --- | --- | --- |
| FRA10AC1 | physical association | 0.370 | 1 |
| E2F1 | physical association | 0.000 | 1 |

**BioGRID (89 interactions; top human partners by supporting records):** EDA (Affinity Capture-MS; 3 records), VTI1B (Affinity Capture-MS; 3 records), EPB41L5 (Affinity Capture-MS; 2 records), FRA10AC1 (Two-hybrid; 2 records), IGSF6 (Affinity Capture-MS; 2 records), LMNA (Proximity Label-MS; 2 records), AMBRA1 (Proximity Label-MS), ARRDC3 (Affinity Capture-MS), ASAP1 (Co-fractionation), ATG16L1 (Affinity Capture-MS), C9orf78 (Affinity Capture-MS), CAMKV (Affinity Capture-MS), CBX3 (Proximity Label-MS), CD3EAP (Proximity Label-MS), CHD8 (Affinity Capture-MS)

#### SIGNOR signaling

1 signaling interactions:

| A | Effect | B | Mechanism |
| --- | --- | --- | --- |
| CWC27 | up-regulates | Spliceosomal_snRNP_assembly |  |

#### Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

| Complex | Subunits | Members |
| --- | --- | --- |
| C complex spliceosome | 80 | RBM8A, ZCCHC8, EFTUD2, HNRNPK, PNN, SRSF1, CDC40, DHX35, HNRNPA2B1, HNRNPC, SF3B3, SYNCRIP, U2AF1, PLRG1, RBM22, SNRNP40, SNRPB2, EIF4A3, FRG1, GPATCH1, HNRNPA3, PPIL1, SF3B1, DHX38, HNRNPR, LSM2, LSM3, SNRPE, DDX23, HNRNPU, MTREX, SLU7, AQR, CWC15, CWC22, DDX41, PABPC1, SF3B2, SNRPD1, SNRPD2, DHX8, CWC27, HNRNPA1, HNRNPH1, MAGOH, SF3A1, PPIE, PPIL3, PRP4K, PRPF6, RALY, SNRPA1, SYF2, TFIP11, CACTIN, CRNKL1, DDX5, SF3A3, SNRNP200, SNRPD3, SNRPF, SRRM1, ALYREF, PPWD1, PRPF19, RBMX, SF3A2, SRRM2, WDR83, XAB2, CDC5L, HNRNPF, SART1, SNRPG, ESS2, ISY1, SNRPB, SNW1, HNRNPM, PRPF8 |

## Disease & clinical

### Genetic variants

**Variant evidence for CWC27:** [477 ClinVar records](#clinvar) (50 pathogenic / likely pathogenic); [34 GWAS associations](#gwas-assoc). Per-variant detail is on [Sugi Variant](https://sugi.bio/variant/gene/CWC27).

#### ClinVar

477 variants total. Per-class counts are floors (≥ shown; pagination cap):

| Classification | Count (floor) |
| --- | --- |
| Pathogenic | 28 |
| Likely pathogenic | 22 |
| Uncertain significance | 189 |
| Likely benign | 178 |
| Benign | 17 |

#### Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 50 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

| Variant ID | HGVS | Classification | Review | Submitters |
| --- | --- | --- | --- | --- |
| 426073 | [NM_005869.4(CWC27):c.1002dup (p.Val335fs)](https://sugi.bio/variant/cwc27-p-val335fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 6 |
| 426071 | [NM_005869.4(CWC27):c.495G>A (p.Glu165=)](https://sugi.bio/variant/cwc27-p-glu165) | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 850590 | [NM_005869.4(CWC27):c.1156dup (p.Leu386fs)](https://sugi.bio/variant/cwc27-p-leu386fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 3 |
| 987419 | [NM_005869.4(CWC27):c.666_669del (p.Ser222fs)](https://sugi.bio/variant/cwc27-p-ser222fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1172712 | [NM_005869.4(CWC27):c.1066_1070del (p.Ala356fs)](https://sugi.bio/variant/cwc27-p-ala356fs) | Pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1068418 | [NM_005869.4(CWC27):c.938+2T>C](https://sugi.bio/variant/cwc27-c-938-plus-2t-c) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 6 |
| 1068272 | [NM_005869.4(CWC27):c.1152+2T>A](https://sugi.bio/variant/cwc27-c-1152-plus-2t-a) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 1693112 | [NM_005869.4(CWC27):c.397-1G>A](https://sugi.bio/variant/cwc27-c-397-minus-1g-a) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 3779554 | [NM_005869.4(CWC27):c.249_252+22del](https://sugi.bio/variant/cwc27-c-249-252-plus-22del) | Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 |
| 843649 | [NM_005869.4(CWC27):c.77_78del (p.Ile26fs)](https://sugi.bio/variant/cwc27-p-ile26fs) | Pathogenic | criteria provided, single submitter | 1 |
| 1074824 | [NM_005869.4(CWC27):c.1033dup (p.Arg345fs)](https://sugi.bio/variant/cwc27-p-arg345fs) | Pathogenic | criteria provided, single submitter | 1 |
| 1076530 | [NM_005869.4(CWC27):c.1156del (p.Ala387fs)](https://sugi.bio/variant/cwc27-p-ala387fs) | Pathogenic | criteria provided, single submitter | 1 |
| 1419612 | [NM_005869.4(CWC27):c.606del (p.Phe202fs)](https://sugi.bio/variant/cwc27-p-phe202fs) | Pathogenic | criteria provided, single submitter | 1 |
| 1432599 | [NM_005869.4(CWC27):c.225dup (p.Glu76fs)](https://sugi.bio/variant/cwc27-p-glu76fs) | Pathogenic | criteria provided, single submitter | 1 |
| 1441533 | [NM_005869.4(CWC27):c.17_20del (p.Ile6fs)](https://sugi.bio/variant/cwc27-p-ile6fs) | Pathogenic | criteria provided, single submitter | 1 |

#### Per-variant reference — Sugi Variant

Explore CWC27's pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on [Sugi Variant](https://sugi.bio/variant/gene/CWC27).

#### SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 32 predictions of 1,006):

| Position(s) | Effect | Δscore | Sites |
| --- | --- | --- | --- |
| 5:64769186 | donor_gain | 1.0000 |  |
| 5:64769189–64769190 | donor_loss | 1.0000 | 5 |
| 5:64774689–64774690 | acceptor_loss | 1.0000 | 6 |
| 5:64774788–64774789 | donor_loss | 1.0000 | 5 |
| 5:64781919–64781920 | acceptor_loss | 1.0000 | 6 |
| 5:64783828–64783830 | acceptor_gain | 1.0000 | 2 |
| 5:64783835 | acceptor_loss | 1.0000 | 2 |
| 5:64783980 | donor_loss | 1.0000 | 2 |
| 5:64788943 | acceptor_gain | 1.0000 |  |
| 5:64789021 | donor_loss | 1.0000 | 2 |

#### AlphaMissense

1,433 missense substitutions predicted likely pathogenic (of 3,160 scored), across 312 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

| Residue | Likely-pathogenic substitutions | Mean am_pathogenicity | Max am_pathogenicity |
| --- | --- | --- | --- |
| F207 | 8 | 0.997 | 1.000 |
| D67 | 8 | 0.993 | 0.997 |
| H233 | 8 | 0.993 | 0.999 |
| H88 | 8 | 0.992 | 0.999 |
| D234 | 8 | 0.991 | 0.997 |
| D448 | 8 | 0.991 | 0.999 |
| F54 | 8 | 0.985 | 0.999 |
| H55 | 8 | 0.984 | 0.999 |
| S231 | 8 | 0.981 | 0.999 |
| F392 | 8 | 0.981 | 0.999 |
| F83 | 8 | 0.980 | 0.998 |
| F113 | 8 | 0.980 | 0.999 |
| F130 | 8 | 0.979 | 0.996 |
| F114 | 8 | 0.978 | 0.998 |
| D85 | 8 | 0.977 | 0.998 |
| N39 | 8 | 0.976 | 0.999 |
| D435 | 8 | 0.975 | 0.990 |
| F40 | 8 | 0.973 | 0.998 |
| S2 | 8 | 0.972 | 0.998 |
| F93 | 8 | 0.969 | 0.999 |

### HPA cancer prognostics

**RNA cancer specificity:** Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

6 prognostic cancer types:

| Cancer | Prognostic | p-value |
| --- | --- | --- |
| Kidney Renal Clear Cell Carcinoma (TCGA) | favorable | 2.5e-06 |
| Liver Hepatocellular Carcinoma (validation) | unfavorable | 0.000169 |
| Liver Hepatocellular Carcinoma (TCGA) | unfavorable | 0.00026 |
| Ovary Serous Cystadenocarcinoma (validation) | unfavorable | 0.000417 |
| Breast Invasive Carcinoma (validation) | unfavorable | 0.000775 |
| Lung Adenocarcinoma (TCGA) | unfavorable | 0.000967 |

### Disease associations

**OMIM:** gene `MIM:617170` | disease phenotypes: MIM:250410, MIM:268000

#### GenCC curated gene-disease

1 curated gene-disease records:

| Disease | Classification | Inheritance | Records |
| --- | --- | --- | --- |
| [metaphyseal chondrodysplasia-retinitis pigmentosa syndrome](/atlas/disease/metaphyseal-chondrodysplasia-retinitis-pigmentosa-syndrome/) | Definitive | Autosomal recessive | 2 |

#### ClinGen Gene-Disease Validity

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

1 validity classifications:

| Disease | Classification | Inheritance |
| --- | --- | --- |
| [metaphyseal chondrodysplasia-retinitis pigmentosa syndrome](/atlas/disease/metaphyseal-chondrodysplasia-retinitis-pigmentosa-syndrome/) | Definitive | AR |

#### Genomics England panels (PanelApp)

Clinical diagnostic gene panels including this gene (7 panels, 7 green/diagnostic-grade). Confidence: green = diagnostic, amber = moderate.

7 panels:

| Panel | Rating |
| --- | --- |
| DDG2P | green |
| Fetal anomalies | green |
| Hypotonic infant | green |
| Intellectual disability | green |
| Leukodystrophy, childhood onset | green |
| Paediatric disorders | green |
| Retinal disorders | green |

**Mondo (3):** [metaphyseal chondrodysplasia-retinitis pigmentosa syndrome](/atlas/disease/metaphyseal-chondrodysplasia-retinitis-pigmentosa-syndrome/) (MONDO:0009598), [retinitis pigmentosa](/atlas/disease/retinitis-pigmentosa/) (MONDO:0019200), [inherited retinal dystrophy](/atlas/disease/inherited-retinal-dystrophy/) (MONDO:0019118)

**Orphanet (3):** Brachydactyly-short stature-retinitis pigmentosa syndrome (Orphanet:166035), Retinitis pigmentosa (Orphanet:791), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

#### HPO phenotypes

showing 60 of 65 phenotypes (HPO-id order):

| HPO | Term |
| --- | --- |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000028 | Cryptorchidism |
| HP:0000085 | Horseshoe kidney |
| HP:0000107 | Renal cyst |
| HP:0000256 | Macrocephaly |
| HP:0000347 | Micrognathia |
| HP:0000369 | Low-set ears |
| HP:0000400 | Macrotia |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0000510 | Rod-cone dystrophy |
| HP:0000512 | Abnormal electroretinogram |
| HP:0000546 | Retinal degeneration |
| HP:0000561 | Absent eyelashes |
| HP:0000653 | Sparse eyelashes |
| HP:0000662 | Nyctalopia |
| HP:0000707 | Abnormality of the nervous system |
| HP:0000750 | Delayed speech and language development |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0000957 | Cafe-au-lait spot |
| HP:0001123 | Visual field defect |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
| HP:0001263 | Global developmental delay |
| HP:0001319 | Neonatal hypotonia |
| HP:0001363 | Craniosynostosis |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001596 | Alopecia |
| HP:0001629 | Ventricular septal defect |
| HP:0001763 | Pes planus |
| HP:0001792 | Small nail |
| HP:0001822 | Hallux valgus |
| HP:0001999 | Abnormal facial shape |
| HP:0002007 | Frontal bossing |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002194 | Delayed gross motor development |
| HP:0002223 | Absent eyebrow |
| HP:0002308 | Chiari malformation |
| HP:0002342 | Moderate intellectual disability |
| HP:0003577 | Congenital onset |
| HP:0003621 | Juvenile onset |
| HP:0004322 | Short stature |
| HP:0005345 | Abnormal vena cava morphology |
| HP:0005871 | Metaphyseal chondrodysplasia |
| HP:0007099 | Chiari type I malformation |
| HP:0007994 | Peripheral visual field loss |
| HP:0008064 | Ichthyosis |
| HP:0008070 | Sparse hair |
| HP:0009882 | Short distal phalanx of finger |
| HP:0009890 | High anterior hairline |
| HP:0010049 | Short metacarpal |
| HP:0010761 | Broad columella |
| HP:0011463 | Childhood onset |
| HP:0011968 | Feeding difficulties |
| HP:0012471 | Thick vermilion border |
| HP:0025159 | Hypoautofluorescent retinal lesion |
| HP:0030148 | Heart murmur |
| HP:0030455 | Abnormality of pattern visual evoked potentials |
| HP:0030674 | Antenatal onset |

#### GWAS associations

showing 30 of 34 associations:

| Study | Trait | p-value |
| --- | --- | --- |
| GCST010796_743 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2e-40 |
| GCST010796_1437 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2e-39 |
| GCST010796_730 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4e-38 |
| GCST010796_732 | Electrocardiogram morphology (amplitude at temporal datapoints) | 9e-37 |
| GCST010796_739 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1e-36 |
| GCST010796_738 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4e-36 |
| GCST010796_740 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6e-35 |
| GCST010796_737 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3e-34 |
| GCST010796_733 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1e-33 |
| GCST010796_729 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3e-33 |
| GCST010796_736 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4e-32 |
| GCST010796_734 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5e-31 |
| GCST010796_735 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2e-30 |
| GCST010796_728 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4e-25 |
| GCST010002_104 | Refractive error | 2e-16 |
| GCST010796_727 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3e-16 |
| GCST010796_741 | Electrocardiogram morphology (amplitude at temporal datapoints) | 1e-14 |
| GCST010796_742 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6e-14 |
| GCST003384_1 | Bladder cancer | 5e-11 |
| GCST009414_19 | Central corneal thickness | 6e-11 |
| GCST006366_3 | Central corneal thickness | 2e-10 |
| GCST006586_9 | Urinary albumin excretion | 2e-10 |
| GCST006628_42 | Systolic blood pressure | 5e-10 |
| GCST008794_56 | Urinary albumin-to-creatinine ratio | 6e-10 |
| GCST009640_34 | Urinary albumin-to-creatinine ratio | 8e-10 |
| GCST008790_21 | Urinary albumin-to-creatinine ratio | 1e-9 |
| GCST006479_4 | Diverticular disease | 3e-9 |
| GCST011216_7 | Left ventricular global radial strain | 9e-9 |
| GCST006463_18 | Urinary albumin excretion (no hypertensive medication) | 1e-8 |
| GCST010988_445 | Adult body size | 1e-8 |

#### EFO canonical traits (from GWAS)

7 canonical traits:

| EFO ID | Trait name |
| --- | --- |
| EFO:0005112 | gestational age |
| EFO:0005213 | central corneal thickness |
| EFO:0004285 | albuminuria |
| EFO:0009959 | diverticular disease |
| EFO:0006335 | systolic blood pressure |
| EFO:0007778 | urinary albumin to creatinine ratio |
| EFO:0004327 | electrocardiography |

#### MeSH disease descriptors

3 disease descriptors:

| Descriptor | Name | Tree numbers |
| --- | --- | --- |
| D058499 | Retinal Dystrophies | C11.768.585.658 |
| D012174 | Retinitis Pigmentosa | C11.270.684; C11.768.585.658.500; C16.320.290.684 |
| C565398 | Metaphyseal Chondrodysplasia with Retinitis Pigmentosa \*(supp.)\* |  |

## Drugs & pharmacology

### Drug and pharmacology data

**Is drug target: yes**

**ChEMBL targets (1):** CHEMBL5724776 (SINGLE PROTEIN)

#### Molecules with ChEMBL bioactivity

Phase ≥1, by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: **1,601** (via chembl_molecule>>patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate). 

1 molecules by phase:

| Molecule | Name | Phase | Patents |
| --- | --- | --- | --- |
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,601 |

**PharmGKB:** 1 entry (CPIC guideline: no)

#### ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

| pChembl | Type | Value | Unit | Molecule |
| --- | --- | --- | --- | --- |
| 7.15 | Kd | 71 | nM | [MOLIBRESIB](https://www.ebi.ac.uk/chembl/compound_report_card/CHEMBL1232461/) |
| 7.05 | IC50 | 90 | nM | [MOLIBRESIB](https://www.ebi.ac.uk/chembl/compound_report_card/CHEMBL1232461/) |

#### PubChem BioAssay actives

2 with measured affinity, of 7 total; 1 most potent distinct compounds. *Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.*

| Compound | Assay | Type | Value | Unit |
| --- | --- | --- | --- | --- |
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | [2179183](https://pubchem.ncbi.nlm.nih.gov/bioassay/2179183/): Binding affinity against SDCCAG10 (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0710 | uM |

#### CTD chemical–gene interactions

36 total (human), top 30 by PubMed support.

| Chemical | Actions (top 5) | PubMed papers |
| --- | --- | --- |
| Benzo(a)pyrene | decreases expression | 5 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Cisplatin | decreases expression, affects cotreatment | 2 |
| Valproic Acid | decreases expression, increases expression | 2 |
| Particulate Matter | increases reaction, decreases expression, increases abundance, affects expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| beta-methylcholine | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| oxidized-L-alpha-1-palmitoyl-2-arachidonoyl-sn-glycero-3-phosphorylcholine | affects expression, increases reaction | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | affects expression, increases reaction | 1 |
| Daunorubicin | affects response to substance | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Dietary Carbohydrates | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| T-2 Toxin | increases expression | 1 |

#### ChEMBL screening assays

7 unique, capped per target: 7 binding

Representative assays (with source publication via chembl_document):

| Assay ID | Type | Description | Source paper |
| --- | --- | --- | --- |
| CHEMBL5697341 | Binding | Inhibition of SDCCAG10 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — \*Nature\* |

#### Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 271 trials:

| NCT | Phase | Status | Title |
| --- | --- | --- | --- |
| NCT00717080 | Phase 4 | COMPLETED | The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction |
| NCT04224207 | Phase 3 | COMPLETED | Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton's Jelly Derived Mesenchymal Stem Cells |
| NCT07082855 | Phase 3 | NOT_YET_RECRUITING | A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa |
| NCT00000114 | Phase 3 | COMPLETED | Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa |
| NCT00000116 | Phase 3 | COMPLETED | Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A |
| NCT00346333 | Phase 3 | COMPLETED | Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A |
| NCT01786395 | Phase 3 | TERMINATED | Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa |
| NCT04636853 | Phase 3 | COMPLETED | CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration |
| NCT05537220 | Phase 3 | ACTIVE_NOT_RECRUITING | Oral N-acetylcysteine for Retinitis Pigmentosa |
| NCT05800301 | Phase 3 | COMPLETED | Management of Retinitis Pigmentosa Via Combination of Wharton's Jelly-derived Mesenchymal Stem Cells and Magnovision |
| NCT05926583 | Phase 3 | ACTIVE_NOT_RECRUITING | A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa |
| NCT06388200 | Phase 3 | ACTIVE_NOT_RECRUITING | A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa |
| NCT07290530 | Phase 3 | NOT_YET_RECRUITING | 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT07710196 | Phase 3 | NOT_YET_RECRUITING | A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome |
| NCT03763227 | Phase 2 | COMPLETED | Intravitreal Ranibizumab (Lucentis®) in the Treatment of Non-leaking Macular Cysts in Retinal Dystrophy |
| NCT04068207 | Phase 2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04945772 | Phase 2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT00100230 | Phase 2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | Phase 2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | Phase 2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | Phase 2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | Phase 2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | Phase 2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
| NCT01560715 | Phase 2 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT02609165 | Phase 2 | COMPLETED | Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema |
| NCT02661711 | Phase 2 | COMPLETED | Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study |
| NCT02804360 | Phase 2 | UNKNOWN | Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study |
| NCT02837640 | Phase 2 | UNKNOWN | Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa |
| NCT03073733 | Phase 2 | COMPLETED | Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa |
| NCT04356716 | Phase 2 | COMPLETED | Sildenafil for Treatment of Choroidal Ischemia |
| NCT04604899 | Phase 2 | COMPLETED | Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa |
| NCT04763369 | Phase 2 | UNKNOWN | Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP) |
| NCT04864496 | Phase 2 | UNKNOWN | Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa |
| NCT05085964 | Phase 2 | TERMINATED | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa |
| NCT05392179 | Phase 2 | COMPLETED | A Study in Subjects With Retinitis Pigmentosa |
| NCT06627179 | Phase 2 | ACTIVE_NOT_RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT06628947 | Phase 2 | RECRUITING | A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa |
| NCT06912633 | Phase 2 | ACTIVE_NOT_RECRUITING | Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) |
| NCT07796646 | Phase 2 | NOT_YET_RECRUITING | Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT05902962 | Phase 1 | COMPLETED | SAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects |
| NCT06319872 | Phase 1 | RECRUITING | The Effects of Disulfiram (Antabuse®) on Visual Acuity in Patients With Retinal Degeneration |
| NCT06455826 | Phase 1 | COMPLETED | MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby) |
| NCT01064505 | Phase 1 | COMPLETED | Safety Study of a Single IVT Injection of QPI-1007 in Chronic Optic Nerve Atrophy and Recent Onset NAION Patients |
| NCT05147701 | Phase 1 | RECRUITING | Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cells for NAION |
| NCT00063765 | Phase 1 | COMPLETED | Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye |
| NCT00065455 | Phase 1 | COMPLETED | Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa |
| NCT00458575 | Phase 1 | TERMINATED | A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa |
| NCT01068561 | Phase 1 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT01482195 | Phase 1 | COMPLETED | Trial of Subretinal Injection of (rAAV2-VMD2-hMERTK) |
| NCT01531348 | Phase 1 | COMPLETED | Intravitreal Injection of MSCs in Retinitis Pigmentosa |
| NCT01543906 | Phase 1 | COMPLETED | Oral QLT091001 in Retinitis Pigmentosa (RP) Subjects With an Autosomal Dominant Mutation in Retinal Pigment Epithelial 65 Protein (RPE65) |
| NCT01604356 | Phase 1 | COMPLETED | Acupuncture for the Treatment of Vision Loss Due to Retinitis Pigmentosa |
| NCT01736059 | Phase 1 | ACTIVE_NOT_RECRUITING | Clinical Trial of Autologous Intravitreal Bone-marrow CD34+ Stem Cells for Retinopathy |
| NCT02280135 | Phase 1 | COMPLETED | Clinical Trial of Intravitreal Injection of Autologous Bone Marrow Stem Cells in Patients With Retinitis Pigmentosa |
| NCT03063021 | Phase 1 | COMPLETED | The FIGHT-RP1 Study |
| NCT03772938 | Phase 1 | UNKNOWN | Stem Cells Therapy in Degenerative Diseases of the Retina |
| NCT03944239 | Phase 1 | ACTIVE_NOT_RECRUITING | Safety and Efficacy of Subretinal Transplantation of Clinical Human Embryonic Stem Cell Derived Retinal Pigment Epitheliums in Treatment of Retinitis Pigmentosa |
| NCT03999021 | Phase 1 | ACTIVE_NOT_RECRUITING | FIGHT-RP 1 Extension Study |
| NCT04284293 | Phase 1 | ACTIVE_NOT_RECRUITING | CNS10-NPC for the Treatment of RP |
| NCT04925687 | Phase 1 | COMPLETED | Phase 1 Study of Intravitreal Autologous CD34+ Stem Cell Therapy for Retinitis Pigmentosa |

#### Predicted chemistry — Sugi Predict

The predicted patent-compound landscape for CWC27 across ~30M SureChEMBL compounds — [explore on Sugi Predict](https://sugi.bio/predict/target/CWC27/).

## Related Atlas pages

- **Associated diseases:** [metaphyseal chondrodysplasia-retinitis pigmentosa syndrome](/atlas/disease/metaphyseal-chondrodysplasia-retinitis-pigmentosa-syndrome/)
- **Disease cohort memberships** *(association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases)*: [inherited retinal dystrophy](/atlas/disease/inherited-retinal-dystrophy/), [metaphyseal chondrodysplasia-retinitis pigmentosa syndrome](/atlas/disease/metaphyseal-chondrodysplasia-retinitis-pigmentosa-syndrome/), [optic atrophy](/atlas/disease/optic-atrophy/), [osteonecrosis](/atlas/disease/osteonecrosis/), [urinary bladder carcinoma](/atlas/disease/urinary-bladder-carcinoma/)