CEP20
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Also known as DKFZp686N1651FLJ31153PHSECRG2FOR20
Summary
CEP20 (centrosomal protein 20, HGNC:26435) is a protein-coding gene on chromosome 16p13.11, encoding Centrosomal protein 20 (Q96NB1). Involved in the biogenesis of cilia.
Enables identical protein binding activity. Involved in cilium assembly. Located in centriolar satellite; ciliary basal body; and nucleoplasm.
Source: NCBI Gene 123811 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 46 total — 5 pathogenic, 3 likely-pathogenic
- MANE Select transcript:
NM_144600
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26435 |
| Approved symbol | CEP20 |
| Name | centrosomal protein 20 |
| Location | 16p13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp686N1651, FLJ31153, PHSECRG2, FOR20 |
| Ensembl gene | ENSG00000133393 |
| Ensembl biotype | protein_coding |
| OMIM | 617149 |
| Entrez | 123811 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 13 protein_coding, 2 nonsense_mediated_decay
ENST00000255759, ENST00000572415, ENST00000573087, ENST00000573396, ENST00000573429, ENST00000573968, ENST00000575073, ENST00000575744, ENST00000575938, ENST00000870039, ENST00000929531, ENST00000929532, ENST00000929533, ENST00000962007, ENST00000962008
RefSeq mRNA: 6 — MANE Select: NM_144600
NM_001304497, NM_001304498, NM_001304499, NM_001304500, NM_001304502, NM_144600
CCDS: CCDS10567, CCDS76829, CCDS76830, CCDS76831, CCDS76832, CCDS76833
Canonical transcript exons
ENST00000255759 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000909153 | 15884008 | 15884205 |
| ENSE00002660971 | 15865719 | 15867516 |
| ENSE00002673342 | 15888558 | 15888603 |
| ENSE00003470629 | 15873491 | 15873627 |
| ENSE00003662092 | 15879804 | 15879888 |
Expression profiles
Bgee: expression breadth ubiquitous, 143 present calls, max score 93.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.4945 / max 332.3969, expressed in 1783 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156523 | 14.4945 | 1783 |
Top tissues by expression
143 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 93.36 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 93.08 | gold quality |
| muscle of leg | UBERON:0001383 | 93.00 | gold quality |
| calcaneal tendon | UBERON:0003701 | 93.00 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 93.00 | gold quality |
| gastrocnemius | UBERON:0001388 | 92.99 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 92.10 | gold quality |
| muscle tissue | UBERON:0002385 | 91.93 | gold quality |
| monocyte | CL:0000576 | 91.72 | gold quality |
| leukocyte | CL:0000738 | 91.52 | gold quality |
| endometrium | UBERON:0001295 | 91.51 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.38 | gold quality |
| ventricular zone | UBERON:0003053 | 90.44 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.42 | gold quality |
| left testis | UBERON:0004533 | 90.37 | gold quality |
| lymph node | UBERON:0000029 | 90.24 | gold quality |
| pancreas | UBERON:0001264 | 90.08 | gold quality |
| rectum | UBERON:0001052 | 90.01 | gold quality |
| right testis | UBERON:0004534 | 90.00 | gold quality |
| testis | UBERON:0000473 | 89.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.53 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.44 | gold quality |
| adrenal tissue | UBERON:0018303 | 89.40 | gold quality |
| embryo | UBERON:0000922 | 89.14 | gold quality |
| ganglionic eminence | UBERON:0004023 | 89.14 | gold quality |
| esophagus | UBERON:0001043 | 88.82 | gold quality |
| body of pancreas | UBERON:0001150 | 88.74 | gold quality |
| stromal cell of endometrium | CL:0002255 | 88.72 | gold quality |
| urinary bladder | UBERON:0001255 | 88.65 | gold quality |
| cortical plate | UBERON:0005343 | 88.62 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
84 targeting CEP20, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4697-3P | 99.89 | 67.09 | 1123 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-1273H-5P | 99.77 | 66.32 | 2471 |
Literature-anchored findings (GeneRIF, showing 6)
- Microdeletions at 16p13.11 are associated with a predisposition to idiopathic generalized epilepsy. (PMID:19843651)
- The depletion of FOR20 (FOP-related protein of 20 kDa), a conserved centrosomal protein, inhibits S-phase progression and prevents targeting of Plk1 (polo-like kinase 1) to centrosomes, where FOR20 interacts with Plk1. (PMID:24018379)
- FOPNL genomic variant is associated with multiple myeloma. (PMID:28691553)
- The results suggested that the centrosomal protein FOR20 is a new member of the microtubule-associated protein family and that it regulates the assembly and dynamics of microtubules while interacting with tubulin. (PMID:28694353)
- The S100A6 interacts with FOR20 and related centrosomal proteins through a conserved N-terminal domain, suggesting a novel Ca(2+)-dependent regulation of centrosomal function. (PMID:28765046)
- Results together with the limitations of the original studies indicate that the reported associations between the MTHFD1L and FOPNL loci and MM survival are false positives due to a winner’s curse effect. (PMID:31363079)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cep20 | ENSDARG00000071198 |
| mus_musculus | Cep20 | ENSMUSG00000022677 |
| rattus_norvegicus | Cep20 | ENSRNOG00000053230 |
Protein
Protein identifiers
Centrosomal protein 20 — Q96NB1 (reviewed: Q96NB1)
Alternative names: FGFR1OP N-terminal-like protein, FOP-related protein of 20 kDa, LisH domain-containing protein FOPNL
All UniProt accessions (8): Q96NB1, I3L0K3, I3L0U4, I3L269, I3L2N4, I3L3N6, I3L4V2, I3NI25
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the biogenesis of cilia. Required for the recruitment of PLK1 to centrosomes and S phase progression.
Subunit / interactions. Homooligomer; probably required for localization to centrosomes. Forms a complex with KIAA0753/OFIP and OFD1; within this complex may stabilize the interaction between OFD1 and KIAA0753/OFIP. Interacts with PCM1; this interaction may be mediated by KIAA0753/OFIP. Interacts with PLK1 in later G1, S, G2 and M phases of the cell cycle; this interaction recruits PLK1 to centrosomes.
Subcellular location. Cytoplasm. Cytoskeleton. Microtubule organizing center. Centrosome. Centriole. Cell projection. Cilium. Cilium basal body. Cytoplasmic granule. Centriolar satellite.
Tissue specificity. Widely expressed. Detected in brain, heart, kidney, liver, lung, skeletal muscle, placenta and intestine.
Similarity. Belongs to the CEP43 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96NB1-1 | 1 | yes |
| Q96NB1-2 | 2 |
RefSeq proteins (6): NP_001291426, NP_001291427, NP_001291428, NP_001291429, NP_001291431, NP_653201* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006594 | LisH | Conserved_site |
| IPR018993 | FOP_dimerisation-dom_N | Domain |
Pfam: PF09398
UniProt features (13 total): mutagenesis site 6, region of interest 2, chain 1, domain 1, compositionally biased region 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96NB1-F1 | 73.95 | 0.42 |
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 (1): 144
Mutagenesis-validated functional residues (6):
| Position | Phenotype |
|---|---|
| 76 | loss of homooligomerization and loss of localization to centrosomes and pericentriolar satellites; when associated with |
| 76 | strongly decreased interaction with kiaa0753; when associated with a-49. loss of interaction with kiaa0753; when associa |
| 106 | no effect on interaction with kiaa0753. |
| 49 | loss of homooligomerization and loss of localization to centrosomes and pericentriolar satellites; when associated with |
| 49 | strongly decreased interaction with kiaa0753; when associated with a-76. |
| 53 | loss of interaction with kiaa0753; when associated with a-76. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 109 (showing top):
GOBP_MICROTUBULE_ANCHORING, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_CILIUM_ORGANIZATION, GOCC_CENTROSOME, GOBP_ORGANELLE_ASSEMBLY, FISCHER_DREAM_TARGETS, SENESE_HDAC1_TARGETS_UP, GOBP_CELL_PROJECTION_ORGANIZATION, SENESE_HDAC3_TARGETS_DN, GOCC_CENTRIOLE, GOCC_MOTILE_CILIUM, GOCC_CILIUM, GOCC_CILIARY_BASAL_BODY, GOCC_CENTRIOLAR_SATELLITE
GO Biological Process (3): microtubule anchoring (GO:0034453), cilium assembly (GO:0060271), cell projection organization (GO:0030030)
GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (12): nucleoplasm (GO:0005654), centrosome (GO:0005813), centriole (GO:0005814), motile cilium (GO:0031514), centriolar satellite (GO:0034451), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), microtubule organizing center (GO:0005815), cytoskeleton (GO:0005856), cilium (GO:0005929), microtubule cytoskeleton (GO:0015630), cell projection (GO:0042995)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| microtubule organizing center | 3 |
| intracellular membraneless organelle | 2 |
| cilium | 2 |
| microtubule cytoskeleton organization | 1 |
| axoneme assembly | 1 |
| intraciliary transport involved in cilium assembly | 1 |
| cilium organization | 1 |
| protein localization to cilium | 1 |
| organelle assembly | 1 |
| trans-Golgi to periciliary membrane compartment transport | 1 |
| plasma membrane bounded cell projection assembly | 1 |
| ciliary transition zone assembly | 1 |
| cellular component organization | 1 |
| protein binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| centriole | 1 |
| centrosome | 1 |
| intracellular anatomical structure | 1 |
| microtubule cytoskeleton | 1 |
| intraciliary transport particle | 1 |
| membrane-bounded organelle | 1 |
| plasma membrane bounded cell projection | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
656 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CEP20 | MARF1 | Q9Y4F3 | 753 |
| CEP20 | OFD1 | O75665 | 745 |
| CEP20 | KIAA0753 | Q2KHM9 | 737 |
| CEP20 | BMERB1 | Q96MC5 | 716 |
| CEP20 | PIBF1 | Q8WXW3 | 665 |
| CEP20 | MPV17L | Q2QL34 | 660 |
| CEP20 | CCDC61 | Q9Y6R9 | 626 |
| CEP20 | H3BMD7 | H3BMD7 | 624 |
| CEP20 | NDE1 | Q9NXR1 | 587 |
| CEP20 | CEP19 | Q96LK0 | 577 |
| CEP20 | NOMO3 | P69849 | 573 |
| CEP20 | CEP350 | Q5VT06 | 553 |
| CEP20 | ABCC6 | P78420 | 540 |
| CEP20 | CCDC138 | Q96M89 | 523 |
| CEP20 | TBC1D31 | Q96DN5 | 488 |
IntAct
62 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CEP290 | CCP110 | psi-mi:“MI:2364”(proximity) | 0.890 |
| CSNK1E | PER1 | psi-mi:“MI:0914”(association) | 0.840 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| CEP20 | OFD1 | psi-mi:“MI:0914”(association) | 0.710 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| CEP20 | CEP20 | psi-mi:“MI:0915”(physical association) | 0.590 |
| CCDC116 | CEP20 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LIN7B | CASK | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS14 | PSME3 | psi-mi:“MI:0914”(association) | 0.530 |
| NDEL1 | OFD1 | psi-mi:“MI:0914”(association) | 0.530 |
| CEP20 | PCM1 | psi-mi:“MI:0403”(colocalization) | 0.520 |
| PCM1 | CEP20 | psi-mi:“MI:0403”(colocalization) | 0.520 |
| KIAA0753 | OFD1 | psi-mi:“MI:2364”(proximity) | 0.480 |
| CEP20 | S100A1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A6 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A7 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100A7A | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100B | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100G | psi-mi:“MI:0915”(physical association) | 0.400 |
| CEP20 | S100P | psi-mi:“MI:0915”(physical association) | 0.400 |
| Cep135 | psi-mi:“MI:0914”(association) | 0.350 | |
| Ppp2r1a | CCHCR1 | psi-mi:“MI:0914”(association) | 0.350 |
| Nedd1 | psi-mi:“MI:0914”(association) | 0.350 | |
| Cep152 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (54): FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Proximity Label-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS), FOPNL (Affinity Capture-MS)
ESM2 similar proteins: A0JMA8, A1A5P5, A2RVA7, B0S6J3, D2KC46, D3ZY60, E7F187, F1MS15, O43295, O60308, O94868, Q05B30, Q08CX1, Q08DB0, Q0IH24, Q10113, Q15057, Q17AF4, Q2KI89, Q39238, Q3B7T8, Q3USJ8, Q4R7I0, Q567U6, Q58DA1, Q5BJT7, Q5FVC7, Q5R629, Q5TZ80, Q5U245, Q5W7F2, Q5ZJ27, Q5ZK62, Q6IVG4, Q6NRB0, Q6ZQK5, Q7Z3E5, Q8BHR2, Q8BIL5, Q8RW96
Diamond homologs: O95684, P0CAX8, Q2YDD1, Q4R7V3, Q4V7C1, Q5ZJ24, Q66JX5, Q96NB1, Q9CZS3, Q9FQ24, Q9FQ25, Q4V7R8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 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 |
|---|---|---|---|
| Loss of Nlp from mitotic centrosomes | 9 | 49.2× | 6e-12 |
| Loss of proteins required for interphase microtubule organization from the centrosome | 9 | 49.2× | 6e-12 |
| AURKA Activation by TPX2 | 9 | 47.3× | 7e-12 |
| Recruitment of mitotic centrosome proteins and complexes | 9 | 42.2× | 2e-11 |
| Regulation of PLK1 Activity at G2/M Transition | 9 | 39.4× | 2e-11 |
| Anchoring of the basal body to the plasma membrane | 10 | 39.0× | 6e-12 |
| Recruitment of NuMA to mitotic centrosomes | 9 | 36.2× | 5e-11 |
| Cilium Assembly | 5 | 18.8× | 1e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cilium assembly | 7 | 11.7× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
46 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 3 |
| Uncertain significance | 29 |
| Likely benign | 2 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (8)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3777760 | Single allele | Pathogenic |
| 4820133 | NC_000016.9:g.15459752_16367752del | Pathogenic |
| 625573 | GRCh37/hg19 16p13.11(chr16:15493046-16053729) | Pathogenic |
| 625598 | GRCh37/hg19 16p13.11(chr16:15168667-16291983) | Pathogenic |
| 980082 | GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1 | Pathogenic |
| 1711420 | GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3 | Likely pathogenic |
| 3235935 | GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150) | Likely pathogenic |
| 503581 | GRCh37/hg19 16p13.11-12.3(chr16:15499057-18264837)x4 | Likely pathogenic |
SpliceAI
1159 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:15873487:ATAC:A | donor_gain | 1.0000 |
| 16:15879802:A:AC | donor_gain | 1.0000 |
| 16:15879803:C:CC | donor_gain | 1.0000 |
| 16:15881503:A:AC | donor_gain | 1.0000 |
| 16:15881504:C:CC | donor_gain | 1.0000 |
| 16:15881506:T:TA | donor_gain | 1.0000 |
| 16:15881506:TC:T | donor_gain | 1.0000 |
| 16:15881541:T:TA | donor_gain | 1.0000 |
| 16:15888556:ACCAG:A | donor_gain | 1.0000 |
| 16:15888557:CCAGC:C | donor_gain | 1.0000 |
| 16:15879803:CA:C | donor_gain | 0.9900 |
| 16:15881284:C:CT | donor_gain | 0.9900 |
| 16:15881285:T:TT | donor_gain | 0.9900 |
| 16:15881287:CTG:C | donor_gain | 0.9900 |
| 16:15881288:TGT:T | donor_gain | 0.9900 |
| 16:15881490:A:C | donor_gain | 0.9900 |
| 16:15881504:CT:C | donor_gain | 0.9900 |
| 16:15881505:TT:T | donor_gain | 0.9900 |
| 16:15881542:C:A | donor_gain | 0.9900 |
| 16:15884001:CACTT:C | donor_loss | 0.9900 |
| 16:15884002:ACTTA:A | donor_loss | 0.9900 |
| 16:15884003:CTTA:C | donor_loss | 0.9900 |
| 16:15884004:TTAC:T | donor_loss | 0.9900 |
| 16:15884005:TACC:T | donor_loss | 0.9900 |
| 16:15884206:C:CC | acceptor_gain | 0.9900 |
| 16:15888551:CACT:C | donor_loss | 0.9900 |
| 16:15888552:ACTC:A | donor_loss | 0.9900 |
| 16:15888555:CACC:C | donor_loss | 0.9900 |
| 16:15888556:A:AC | donor_gain | 0.9900 |
| 16:15888556:A:C | donor_loss | 0.9900 |
AlphaMissense
1129 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:15884146:C:G | A30P | 0.996 |
| 16:15884016:A:G | L73P | 0.994 |
| 16:15884019:A:T | V72D | 0.992 |
| 16:15884061:C:G | R58P | 0.992 |
| 16:15884045:G:C | F63L | 0.990 |
| 16:15884045:G:T | F63L | 0.990 |
| 16:15884047:A:G | F63L | 0.990 |
| 16:15884158:C:G | A26P | 0.989 |
| 16:15884148:C:G | R29P | 0.986 |
| 16:15884139:A:T | V32D | 0.985 |
| 16:15888566:A:G | L7S | 0.985 |
| 16:15884056:A:G | Y60H | 0.984 |
| 16:15884072:A:C | N54K | 0.984 |
| 16:15884072:A:T | N54K | 0.984 |
| 16:15879837:A:G | L93P | 0.983 |
| 16:15884131:C:G | A35P | 0.982 |
| 16:15884190:A:G | L15S | 0.982 |
| 16:15884202:A:G | L11S | 0.982 |
| 16:15884064:A:T | I57N | 0.981 |
| 16:15884082:A:G | L51P | 0.981 |
| 16:15884028:G:T | T69K | 0.977 |
| 16:15884056:A:C | Y60D | 0.977 |
| 16:15884135:G:C | F33L | 0.977 |
| 16:15884135:G:T | F33L | 0.977 |
| 16:15884137:A:G | F33L | 0.977 |
| 16:15879886:A:G | S77P | 0.976 |
| 16:15884055:T:G | Y60S | 0.974 |
| 16:15884151:A:T | I28N | 0.972 |
| 16:15884070:T:A | E55V | 0.971 |
| 16:15884052:A:G | L61S | 0.970 |
dbSNP variants (sampled 300 via entrez): RS1000100124 (16:15879574 A>T), RS1000156667 (16:15887005 C>T), RS1000275775 (16:15884765 A>T), RS1000282587 (16:15874165 C>G,T), RS1000341967 (16:15873411 G>A,C), RS1000461989 (16:15889677 G>A), RS1000565864 (16:15868339 G>A,C,T), RS1000576337 (16:15883148 G>A), RS1000693475 (16:15884966 A>C), RS1000705348 (16:15869920 C>T), RS1000759025 (16:15888177 C>G), RS1001076580 (16:15869727 A>T), RS1001172812 (16:15878790 C>T), RS1001317677 (16:15874653 C>T), RS1001407126 (16:15874270 A>G)
Disease associations
OMIM: gene MIM:617149 | disease phenotypes:
GenCC curated gene-disease
Mondo (1): 16p13.11 microduplication syndrome (MONDO:0016837)
Orphanet (1): 16p13.11 microduplication syndrome (Orphanet:261243)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003051_1 | Multiple myeloma (survival) | 7.000000e-09 |
| GCST003225_26 | Pelvic organ prolapse (moderate/severe) | 3.000000e-07 |
| GCST90000015_13 | Parkinson’s disease motor subtype (tremor to postural instability/gait difficulty score ratio) | 3.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0000638 | overall survival |
| EFO:0600011 | Parkinson’s disease symptom measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
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 |
|---|---|---|
| Valproic Acid | decreases expression, increases expression, affects expression | 3 |
| dicrotophos | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sulforaphane | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Plant Extracts | increases expression, affects cotreatment | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Zinc | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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): 16p13.11 microduplication syndrome, pelvic organ prolapse, plasma cell myeloma