CWC15
gene geneOn this page
Also known as C11orf5HSPC148Cwf15AD002
Summary
CWC15 (CWC15 spliceosome associated protein, HGNC:26939) is a protein-coding gene on chromosome 11q21, encoding Spliceosome-associated protein CWC15 homolog (Q9P013). Involved in pre-mRNA splicing as component of the spliceosome. It is a selective cancer dependency (DepMap: 51.4% of cell lines).
Predicted to enable RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in mitochondrion and nuclear speck. Part of Prp19 complex and U2-type catalytic step 2 spliceosome.
Source: NCBI Gene 51503 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 18 total
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 51.4% of screened cell lines
- MANE Select transcript:
NM_016403
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26939 |
| Approved symbol | CWC15 |
| Name | CWC15 spliceosome associated protein |
| Location | 11q21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | C11orf5, HSPC148, Cwf15, AD002 |
| Ensembl gene | ENSG00000150316 |
| Ensembl biotype | protein_coding |
| Entrez | 51503 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 13 protein_coding, 5 retained_intron
ENST00000279839, ENST00000539856, ENST00000542165, ENST00000542907, ENST00000616442, ENST00000621358, ENST00000884093, ENST00000884094, ENST00000884095, ENST00000884096, ENST00000884097, ENST00000884098, ENST00000884099, ENST00000884100, ENST00000928765, ENST00000928766, ENST00000928767, ENST00000928768
RefSeq mRNA: 3 — MANE Select: NM_016403
NM_001363371, NM_001363372, NM_016403
CCDS: CCDS73369
Canonical transcript exons
ENST00000279839 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001254719 | 94962620 | 94963514 |
| ENSE00001377352 | 94966295 | 94966413 |
| ENSE00001434060 | 94973498 | 94973556 |
| ENSE00003581041 | 94971375 | 94971487 |
| ENSE00003582644 | 94969989 | 94970096 |
| ENSE00003602456 | 94970977 | 94971065 |
| ENSE00003613033 | 94972055 | 94972193 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 99.12.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 66.2949 / max 2083.0208, expressed in 1818 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 121854 | 66.2949 | 1818 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| kidney epithelium | UBERON:0004819 | 99.12 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.95 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.63 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.56 | gold quality |
| myocardium | UBERON:0002349 | 98.24 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 98.12 | gold quality |
| vastus lateralis | UBERON:0001379 | 98.11 | gold quality |
| biceps brachii | UBERON:0001507 | 97.97 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 97.85 | gold quality |
| body of tongue | UBERON:0011876 | 97.72 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 97.69 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 97.65 | gold quality |
| left testis | UBERON:0004533 | 97.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.54 | gold quality |
| right testis | UBERON:0004534 | 97.54 | gold quality |
| tongue | UBERON:0001723 | 97.53 | gold quality |
| superior surface of tongue | UBERON:0007371 | 97.53 | gold quality |
| deltoid | UBERON:0001476 | 97.52 | gold quality |
| mammary duct | UBERON:0001765 | 97.47 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 97.42 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 97.29 | gold quality |
| testis | UBERON:0000473 | 97.28 | gold quality |
| muscle tissue | UBERON:0002385 | 97.28 | gold quality |
| upper arm skin | UBERON:0004263 | 97.04 | gold quality |
| pons | UBERON:0000988 | 96.97 | gold quality |
| ganglionic eminence | UBERON:0004023 | 96.94 | gold quality |
| embryo | UBERON:0000922 | 96.93 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.83 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 96.80 | gold quality |
| quadriceps femoris | UBERON:0001377 | 96.74 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
60 targeting CWC15, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-1-3P | 99.93 | 72.35 | 1914 |
| HSA-MIR-206 | 99.93 | 72.50 | 1893 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-613 | 99.91 | 71.50 | 1710 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-548AU-3P | 99.70 | 68.22 | 1373 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 51.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- The results show that CTNNBL1 enhances the association of CWC15 and CDC5L, both core Prp19 complex proteins and identify an overlap in the region of CDC5L that binds either CTNNBL1 or CWC15 suggesting the two proteins might exchange places in the complex. (PMID:26130721)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cwc15 | ENSDARG00000013382 |
| mus_musculus | Cwc15 | ENSMUSG00000004096 |
| rattus_norvegicus | Cwc15 | ENSRNOG00000008490 |
| rattus_norvegicus | Cwc15-ps3 | ENSRNOG00000025157 |
| drosophila_melanogaster | c12.1 | FBGN0040235 |
| caenorhabditis_elegans | WBGENE00011687 |
Protein
Protein identifiers
Spliceosome-associated protein CWC15 homolog — Q9P013 (reviewed: Q9P013)
All UniProt accessions (1): Q9P013
UniProt curated annotations — full annotation on UniProt →
Function. Involved in pre-mRNA splicing as component of the spliceosome. Component of the PRP19-CDC5L complex that forms an integral part of the spliceosome and is required for activating pre-mRNA splicing. As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs.
Subunit / interactions. Identified in the spliceosome C complex. Component of the PRP19-CDC5L splicing complex composed of a core complex comprising a homotetramer of PRPF19, CDC5L, PLRG1 and BCAS2, and at least three less stably associated proteins CTNNBL1, CWC15 and HSPA8. Interacts directly with CTNNBL1 in the complex. Component of the minor spliceosome, which splices U12-type introns.
Subcellular location. Nucleus.
Similarity. Belongs to the CWC15 family.
RefSeq proteins (3): NP_001350300, NP_001350301, NP_057487* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006973 | Cwf_Cwc_15 | Family |
Pfam: PF04889
UniProt features (23 total): helix 6, modified residue 5, compositionally biased region 3, strand 2, turn 2, initiator methionine 1, chain 1, sequence conflict 1, region of interest 1, coiled-coil region 1
Structure
Experimental structures (PDB)
34 structures, top 30 by resolution.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8C6J | ELECTRON MICROSCOPY | 2.8 |
| 6ID1 | ELECTRON MICROSCOPY | 2.86 |
| 7DVQ | ELECTRON MICROSCOPY | 2.89 |
| 6ID0 | ELECTRON MICROSCOPY | 2.9 |
| 6ICZ | ELECTRON MICROSCOPY | 3 |
| 8I0R | ELECTRON MICROSCOPY | 3 |
| 8I0T | ELECTRON MICROSCOPY | 3 |
| 8I0V | ELECTRON MICROSCOPY | 3 |
| 7QTT | ELECTRON MICROSCOPY | 3.1 |
| 6QDV | ELECTRON MICROSCOPY | 3.3 |
| 8I0U | ELECTRON MICROSCOPY | 3.3 |
| 9FMD | ELECTRON MICROSCOPY | 3.3 |
| 6FF4 | ELECTRON MICROSCOPY | 3.4 |
| 6ZYM | ELECTRON MICROSCOPY | 3.4 |
| 8I0P | ELECTRON MICROSCOPY | 3.4 |
| 8I0W | ELECTRON MICROSCOPY | 3.4 |
| 8RO2 | ELECTRON MICROSCOPY | 3.5 |
| 5XJC | ELECTRON MICROSCOPY | 3.6 |
| 7W59 | ELECTRON MICROSCOPY | 3.6 |
| 7W5A | ELECTRON MICROSCOPY | 3.6 |
| 7ABF | ELECTRON MICROSCOPY | 3.9 |
| 5YZG | ELECTRON MICROSCOPY | 4.1 |
| 7AAV | ELECTRON MICROSCOPY | 4.2 |
| 8I0S | ELECTRON MICROSCOPY | 4.2 |
| 7W5B | ELECTRON MICROSCOPY | 4.3 |
| 6FF7 | ELECTRON MICROSCOPY | 4.5 |
| 5Z58 | ELECTRON MICROSCOPY | 4.9 |
| 5Z56 | ELECTRON MICROSCOPY | 5.1 |
| 5MQF | ELECTRON MICROSCOPY | 5.9 |
| 8CH6 | ELECTRON MICROSCOPY | 5.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9P013-F1 | 75.72 | 0.30 |
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 (5): 110, 121, 2, 18, 47
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-72163 | mRNA Splicing - Major Pathway |
| R-HSA-9918481 | Dengue Virus-Host Interactions |
MSigDB gene sets: 131 (showing top):
SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_RNA_SPLICING, REACTOME_MRNA_SPLICING, NKX22_01, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_MRNA_CIS_SPLICING_VIA_SPLICEOSOME, HOXA4_Q2, NKX3A_01, REACTOME_METABOLISM_OF_RNA, GOCC_U2_TYPE_SPLICEOSOMAL_COMPLEX, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_CATALYTIC_STEP_2_SPLICEOSOME
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), mRNA cis splicing, via spliceosome (GO:0045292), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (2): RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (8): Prp19 complex (GO:0000974), nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), mitochondrion (GO:0005739), nuclear speck (GO:0016607), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| mRNA Splicing | 1 |
| Dengue Virus Infection | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| intracellular membrane-bounded organelle | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA splicing, via spliceosome | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| protein-containing complex | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| cytoplasm | 1 |
| nuclear ribonucleoprotein granule | 1 |
| U2-type spliceosomal complex | 1 |
| U2 snRNP | 1 |
| U6 snRNP | 1 |
| catalytic step 2 spliceosome | 1 |
| Prp19 complex | 1 |
| spliceosomal complex | 1 |
| U5 snRNP | 1 |
| catalytic complex | 1 |
Protein interactions and networks
STRING
2083 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CWC15 | PLRG1 | O43660 | 924 |
| CWC15 | CTNNBL1 | Q8WYA6 | 918 |
| CWC15 | CTTNBP2 | Q8WZ74 | 910 |
| CWC15 | ASZ1 | Q8WWH4 | 909 |
| CWC15 | BCAS2 | O75934 | 902 |
| CWC15 | CDC5L | Q99459 | 888 |
| CWC15 | FAM3B | P58499 | 862 |
| CWC15 | HSPA8 | P11142 | 861 |
| CWC15 | SNW1 | Q13573 | 805 |
| CWC15 | GP5 | P40197 | 797 |
| CWC15 | RNF113A | O15541 | 755 |
| CWC15 | BUD31 | P41223 | 745 |
| CWC15 | CWC22 | Q9HCG8 | 727 |
| CWC15 | MYOM2 | P54296 | 723 |
| CWC15 | CRNKL1 | Q9BZJ0 | 709 |
IntAct
92 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDC5L | PLRG1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| CTNNBL1 | CWC15 | psi-mi:“MI:0407”(direct interaction) | 0.850 |
| CWC15 | CTNNBL1 | psi-mi:“MI:0915”(physical association) | 0.850 |
| CWC15 | CTNNBL1 | psi-mi:“MI:0914”(association) | 0.850 |
| PPIE | AQR | psi-mi:“MI:0914”(association) | 0.810 |
| BCAS2 | PLRG1 | psi-mi:“MI:0914”(association) | 0.790 |
| PRPF19 | AQR | psi-mi:“MI:0914”(association) | 0.790 |
| PRPF19 | PLRG1 | psi-mi:“MI:0914”(association) | 0.770 |
| SYF2 | AQR | psi-mi:“MI:0914”(association) | 0.730 |
| SNW1 | AQR | psi-mi:“MI:0914”(association) | 0.650 |
| SF3B1 | SAP18 | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPA1 | U2SURP | psi-mi:“MI:0914”(association) | 0.640 |
| SNRPE | PRMT5 | psi-mi:“MI:0914”(association) | 0.530 |
| PPIL1 | AQR | psi-mi:“MI:0914”(association) | 0.530 |
| ANGPTL4 | NMT2 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| FMR1 | ACOT7 | psi-mi:“MI:0914”(association) | 0.500 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| ESR2 | FBLL1 | psi-mi:“MI:0914”(association) | 0.460 |
| ENG | CWC15 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| CWC15 | psi-mi:“MI:0407”(direct interaction) | 0.440 | |
| LRRK1 | CWC15 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRK2 | CWC15 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| Prpf8 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| Snw1 | DHX15 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (178): SIRT1 (Affinity Capture-MS), CTNNBL1 (Affinity Capture-MS), SIRT5 (Affinity Capture-MS), CWC15 (Proximity Label-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CWC15 (Affinity Capture-MS), CTNNBL1 (Affinity Capture-MS), SIRT5 (Affinity Capture-MS), SIRT1 (Affinity Capture-MS), CWC15 (Affinity Capture-MS)
ESM2 similar proteins: A4IGY3, A7SD85, A8WMM4, E1C760, F4ICK8, O08837, O15541, O48713, P19351, P92948, Q0JHZ2, Q0VFP5, Q12000, Q16543, Q1RMM1, Q28Y69, Q2KJC1, Q2KJD3, Q3TIV5, Q3TQI7, Q54DA5, Q568A0, Q5BH88, Q5BJP2, Q5EAC6, Q5H7N8, Q5PQS7, Q5RC87, Q5RE65, Q67ER4, Q6A068, Q6DD06, Q6DKE6, Q6NUB2, Q6U6G5, Q7JWR9, Q803J8, Q8GX84, Q8WU90, Q93618
Diamond homologs: O45766, P78794, Q0VFP5, Q2KJD3, Q5B020, Q5BJP2, Q5RE65, Q6BP48, Q6C0E6, Q6DKE6, Q6IQU4, Q6NUB2, Q9JHS9, Q9P013, Q9V3B6, Q59PD3
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CWC15 | “form complex” | PRP19-CDC5L | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 94 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| mRNA Splicing | 22 | 33.5× | 3e-26 |
| mRNA Splicing - Major Pathway | 37 | 28.1× | 2e-43 |
| Processing of Capped Intron-Containing Pre-mRNA | 23 | 26.2× | 4e-25 |
| mRNA 3’-end processing | 8 | 21.9× | 1e-07 |
| RNA Polymerase II Transcription Termination | 7 | 21.4× | 1e-06 |
| mRNA Polyadenylation | 16 | 19.5× | 5e-15 |
| mRNA Splicing - Minor Pathway | 6 | 18.7× | 2e-05 |
| Dengue Virus-Host Interactions | 27 | 17.1× | 7e-25 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| U2-type prespliceosome assembly | 6 | 44.6× | 8e-07 |
| mRNA splicing, via spliceosome | 32 | 34.9× | 7e-39 |
| spliceosomal snRNP assembly | 5 | 34.6× | 4e-05 |
| mRNA export from nucleus | 5 | 17.6× | 8e-04 |
| regulation of alternative mRNA splicing, via spliceosome | 5 | 14.5× | 2e-03 |
| RNA splicing | 13 | 13.7× | 4e-09 |
| mRNA processing | 11 | 10.3× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
18 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 7 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1039 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:94963510:CCCAC:C | acceptor_gain | 1.0000 |
| 11:94963511:CCAC:C | acceptor_gain | 1.0000 |
| 11:94963511:CCACC:C | acceptor_gain | 1.0000 |
| 11:94963512:CAC:C | acceptor_gain | 1.0000 |
| 11:94963512:CACC:C | acceptor_gain | 1.0000 |
| 11:94963513:ACCTG:A | acceptor_loss | 1.0000 |
| 11:94963514:CCT:C | acceptor_loss | 1.0000 |
| 11:94963515:C:CC | acceptor_gain | 1.0000 |
| 11:94966283:A:AC | donor_gain | 1.0000 |
| 11:94966284:C:CC | donor_gain | 1.0000 |
| 11:94966291:GTA:G | donor_loss | 1.0000 |
| 11:94966294:CCTT:C | donor_gain | 1.0000 |
| 11:94966297:T:A | donor_gain | 1.0000 |
| 11:94966412:TC:T | acceptor_gain | 1.0000 |
| 11:94966412:TCCTG:T | acceptor_loss | 1.0000 |
| 11:94966413:CC:C | acceptor_gain | 1.0000 |
| 11:94966413:CCTG:C | acceptor_loss | 1.0000 |
| 11:94966414:C:CC | acceptor_gain | 1.0000 |
| 11:94966414:CTGT:C | acceptor_loss | 1.0000 |
| 11:94966418:CAA:C | acceptor_gain | 1.0000 |
| 11:94966419:A:T | acceptor_gain | 1.0000 |
| 11:94966420:A:AC | acceptor_gain | 1.0000 |
| 11:94966420:A:C | acceptor_gain | 1.0000 |
| 11:94966423:A:AC | acceptor_gain | 1.0000 |
| 11:94966423:A:C | acceptor_gain | 1.0000 |
| 11:94969976:A:AC | donor_gain | 1.0000 |
| 11:94969977:C:CC | donor_gain | 1.0000 |
| 11:94969987:ACCTT:A | donor_gain | 1.0000 |
| 11:94969988:CCTT:C | donor_gain | 1.0000 |
| 11:94969988:CCTTC:C | donor_gain | 1.0000 |
AlphaMissense
1523 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:94963406:G:C | F223L | 1.000 |
| 11:94963406:G:T | F223L | 1.000 |
| 11:94963407:A:C | F223C | 1.000 |
| 11:94963407:A:G | F223S | 1.000 |
| 11:94963408:A:G | F223L | 1.000 |
| 11:94963408:A:T | F223I | 1.000 |
| 11:94963416:T:C | H220R | 1.000 |
| 11:94963417:G:C | H220D | 1.000 |
| 11:94963417:G:T | H220N | 1.000 |
| 11:94963418:A:C | F219L | 1.000 |
| 11:94963418:A:T | F219L | 1.000 |
| 11:94963419:A:C | F219C | 1.000 |
| 11:94963419:A:G | F219S | 1.000 |
| 11:94963420:A:G | F219L | 1.000 |
| 11:94963420:A:T | F219I | 1.000 |
| 11:94963425:G:A | S217F | 1.000 |
| 11:94963426:A:G | S217P | 1.000 |
| 11:94963428:C:G | R216P | 1.000 |
| 11:94963431:A:G | L215P | 1.000 |
| 11:94963436:G:C | D213E | 1.000 |
| 11:94963436:G:T | D213E | 1.000 |
| 11:94963437:T:A | D213V | 1.000 |
| 11:94963437:T:C | D213G | 1.000 |
| 11:94963437:T:G | D213A | 1.000 |
| 11:94963438:C:G | D213H | 1.000 |
| 11:94963439:A:C | N212K | 1.000 |
| 11:94963439:A:T | N212K | 1.000 |
| 11:94963445:A:C | F210L | 1.000 |
| 11:94963445:A:T | F210L | 1.000 |
| 11:94963446:A:G | F210S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000201931 (11:94972040 A>G), RS1000547672 (11:94965258 G>A), RS1001156033 (11:94966812 T>C), RS1001522139 (11:94967174 C>T), RS1001842168 (11:94970671 G>A), RS1001871770 (11:94970365 G>A), RS1002191139 (11:94964197 T>A,C), RS1002553600 (11:94967715 A>G), RS1002760799 (11:94973838 T>C), RS1002994880 (11:94967412 T>C), RS1003408489 (11:94962802 A>G), RS1003895208 (11:94962616 A>G), RS1003967016 (11:94969116 A>G), RS1004298421 (11:94965898 T>C), RS1004405749 (11:94972989 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000253_20 | Attention deficit hyperactivity disorder and conduct disorder | 2.000000e-06 |
| GCST011741_40 | LDL cholesterol levels in HIV infection | 1.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6066384 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | affects expression, increases abundance, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression, affects cotreatment | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Atrazine | increases expression | 1 |
| Doxorubicin | increases expression | 1 |
| Gasoline | decreases expression, increases abundance, affects cotreatment | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Polycyclic Aromatic Hydrocarbons | decreases expression, increases abundance, affects cotreatment | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| 1-Butanol | affects cotreatment, decreases expression, increases abundance | 1 |
| Particulate Matter | affects cotreatment, decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5651227 | Binding | Binding affinity to human CWC15 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): conduct disorder