WDTC1
gene geneOn this page
Also known as KIAA1037ADPDCAF9
Summary
WDTC1 (WD and tetratricopeptide repeats 1, HGNC:29175) is a protein-coding gene on chromosome 1p36.11, encoding WD and tetratricopeptide repeats protein 1 (Q8N5D0). May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Predicted to enable enzyme inhibitor activity; histone binding activity; and histone deacetylase binding activity. Predicted to be involved in negative regulation of fatty acid biosynthetic process. Predicted to act upstream of or within several processes, including cellular response to insulin stimulus; glucose metabolic process; and negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be part of Cul4-RING E3 ubiquitin ligase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 23038 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 87 total — 1 likely-pathogenic
- MANE Select transcript:
NM_001276252
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29175 |
| Approved symbol | WDTC1 |
| Name | WD and tetratricopeptide repeats 1 |
| Location | 1p36.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1037, ADP, DCAF9 |
| Ensembl gene | ENSG00000142784 |
| Ensembl biotype | protein_coding |
| OMIM | 619763 |
| Entrez | 23038 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 16 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron
ENST00000319394, ENST00000361771, ENST00000447062, ENST00000472249, ENST00000491239, ENST00000868293, ENST00000868294, ENST00000868295, ENST00000868296, ENST00000868297, ENST00000868298, ENST00000868299, ENST00000868300, ENST00000868301, ENST00000868302, ENST00000913940, ENST00000913941, ENST00000913942, ENST00000913943
RefSeq mRNA: 3 — MANE Select: NM_001276252
NM_001276252, NM_001410767, NM_015023
CCDS: CCDS296, CCDS60044, CCDS90895
Canonical transcript exons
ENST00000319394 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001685646 | 27234632 | 27234951 |
| ENSE00003465039 | 27296326 | 27296401 |
| ENSE00003510931 | 27294022 | 27294116 |
| ENSE00003539618 | 27294514 | 27294629 |
| ENSE00003573835 | 27297938 | 27298111 |
| ENSE00003576585 | 27306186 | 27308636 |
| ENSE00003584615 | 27292215 | 27292397 |
| ENSE00003660983 | 27301226 | 27301461 |
| ENSE00003671236 | 27297048 | 27297156 |
| ENSE00003889256 | 27305001 | 27305193 |
| ENSE00003889785 | 27260956 | 27261102 |
| ENSE00003892921 | 27283338 | 27283449 |
| ENSE00003893053 | 27282239 | 27282285 |
| ENSE00003893182 | 27287674 | 27287861 |
| ENSE00003894262 | 27263152 | 27263235 |
| ENSE00003894889 | 27303621 | 27303795 |
Expression profiles
Bgee: expression breadth ubiquitous, 281 present calls, max score 94.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.4334 / max 279.1184, expressed in 1812 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1692 | 7.3890 | 1761 |
| 1693 | 5.4619 | 1616 |
| 1694 | 5.2730 | 1618 |
| 1695 | 1.0919 | 705 |
| 1691 | 0.2176 | 67 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 94.76 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.65 | gold quality |
| muscle of leg | UBERON:0001383 | 94.14 | gold quality |
| pancreatic ductal cell | CL:0002079 | 93.26 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.12 | gold quality |
| apex of heart | UBERON:0002098 | 92.79 | gold quality |
| muscle organ | UBERON:0001630 | 92.69 | gold quality |
| granulocyte | CL:0000094 | 92.42 | gold quality |
| heart left ventricle | UBERON:0002084 | 92.17 | gold quality |
| right atrium auricular region | UBERON:0006631 | 92.16 | gold quality |
| cardiac ventricle | UBERON:0002082 | 92.02 | gold quality |
| left testis | UBERON:0004533 | 91.95 | gold quality |
| right testis | UBERON:0004534 | 91.80 | gold quality |
| nipple | UBERON:0002030 | 91.78 | gold quality |
| cardiac atrium | UBERON:0002081 | 91.75 | gold quality |
| blood | UBERON:0000178 | 91.62 | gold quality |
| vena cava | UBERON:0004087 | 91.47 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.15 | gold quality |
| body of tongue | UBERON:0011876 | 91.13 | gold quality |
| heart | UBERON:0000948 | 91.00 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.98 | gold quality |
| lower esophagus | UBERON:0013473 | 90.96 | gold quality |
| tongue | UBERON:0001723 | 90.90 | gold quality |
| pylorus | UBERON:0001166 | 90.89 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 90.76 | silver quality |
| stromal cell of endometrium | CL:0002255 | 90.75 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 90.70 | gold quality |
| superior surface of tongue | UBERON:0007371 | 90.70 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.68 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 90.67 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.29 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CEBPG, NFKB, SSRP1, TFAP2A
miRNA regulators (miRDB)
179 targeting WDTC1, 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-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4747-5P | 100.00 | 67.90 | 2681 |
| HSA-MIR-5196-5P | 100.00 | 67.98 | 2761 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| 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-4731-5P | 99.89 | 67.23 | 2537 |
Literature-anchored findings (GeneRIF, showing 4)
- WDTC1 variation may be an important risk factor contributing to obesity in both Puerto Rican and white populations. (PMID:19238144)
- High adp expression in human adipose tissue is associated with lower adiposity and enhanced glucose utilization. (PMID:23512946)
- Our results identify a biochemical role for WDTC1 and extend the functional range of the CRL4 complex to the suppression of fat accumulation. (PMID:27113764)
- The putative oncogenic role of WDTC1 in colorectal cancer. (PMID:35238908)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wdtc1 | ENSDARG00000059760 |
| mus_musculus | Wdtc1 | ENSMUSG00000037622 |
| rattus_norvegicus | Wdtc1 | ENSRNOG00000008377 |
| drosophila_melanogaster | adp | FBGN0000057 |
| caenorhabditis_elegans | adpr-1 | WBGENE00044440 |
Paralogs (5): DCAF8 (ENSG00000132716), DCAF5 (ENSG00000139990), DCAF6 (ENSG00000143164), DCAF8L2 (ENSG00000189186), DCAF8L1 (ENSG00000226372)
Protein
Protein identifiers
WD and tetratricopeptide repeats protein 1 — Q8N5D0 (reviewed: Q8N5D0)
All UniProt accessions (2): Q8N5D0, H0YEI6
UniProt curated annotations — full annotation on UniProt →
Function. May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Pathway. Protein modification; protein ubiquitination.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8N5D0-1 | 1 | yes |
| Q8N5D0-2 | 2 | |
| Q8N5D0-3 | 3 | |
| Q8N5D0-4 | 4 | |
| Q8N5D0-5 | 5 | |
| Q8N5D0-6 | 6 |
RefSeq proteins (3): NP_001263181, NP_001397696, NP_055838 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001680 | WD40_rpt | Repeat |
| IPR011990 | TPR-like_helical_dom_sf | Homologous_superfamily |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019734 | TPR_rpt | Repeat |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR045151 | DCAF8 | Family |
Pfam: PF00400
UniProt features (19 total): repeat 9, splice variant 3, region of interest 2, modified residue 2, chain 1, sequence conflict 1, helix 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3I7N | X-RAY DIFFRACTION | 2.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8N5D0-F1 | 82.35 | 0.64 |
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): 353, 511
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
MSigDB gene sets: 267 (showing top):
GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, MYOGENIN_Q6, TGCGCANK_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_NEGATIVE_REGULATION_OF_LIPID_METABOLIC_PROCESS, GOBP_GROWTH, GOBP_NEGATIVE_REGULATION_OF_LIPID_BIOSYNTHETIC_PROCESS, AP4_Q6, AP2_Q3, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_KETONE_METABOLIC_PROCESS, CAGCTG_AP4_Q5, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS
GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), in utero embryonic development (GO:0001701), glucose metabolic process (GO:0006006), regulation of cell size (GO:0008361), protein ubiquitination (GO:0016567), cellular response to insulin stimulus (GO:0032869), multicellular organism growth (GO:0035264), negative regulation of fatty acid biosynthetic process (GO:0045717), intracellular chemical homeostasis (GO:0055082)
GO Molecular Function (4): enzyme inhibitor activity (GO:0004857), histone binding (GO:0042393), histone deacetylase binding (GO:0042826), protein binding (GO:0005515)
GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), Cul4-RING E3 ubiquitin ligase complex (GO:0080008), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| chordate embryonic development | 1 |
| hexose metabolic process | 1 |
| regulation of cellular component size | 1 |
| protein modification by small protein conjugation | 1 |
| response to insulin | 1 |
| cellular response to peptide hormone stimulus | 1 |
| multicellular organismal process | 1 |
| developmental growth | 1 |
| fatty acid biosynthetic process | 1 |
| regulation of fatty acid biosynthetic process | 1 |
| negative regulation of fatty acid metabolic process | 1 |
| negative regulation of lipid biosynthetic process | 1 |
| cellular homeostasis | 1 |
| chemical homeostasis | 1 |
| catalytic activity | 1 |
| enzyme regulator activity | 1 |
| molecular function inhibitor activity | 1 |
| protein binding | 1 |
| enzyme binding | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1002 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WDTC1 | DDB1 | Q16531 | 628 |
| WDTC1 | MAPT | P10636 | 541 |
| WDTC1 | ZNF70 | Q9UC06 | 493 |
| WDTC1 | SYNPO2L | Q9H987 | 485 |
| WDTC1 | PARK7 | Q99497 | 438 |
| WDTC1 | ZC3H14 | Q6PJT7 | 425 |
| WDTC1 | KANSL1 | Q7Z3B3 | 424 |
| WDTC1 | HOOK2 | Q96ED9 | 411 |
| WDTC1 | DNASE2 | O00115 | 410 |
| WDTC1 | DEFA4 | P12838 | 409 |
| WDTC1 | DCAF4 | Q8WV16 | 409 |
| WDTC1 | DDB2 | Q92466 | 404 |
| WDTC1 | MRTO4 | Q9UKD2 | 399 |
| WDTC1 | PLAGL2 | Q9UPG8 | 398 |
| WDTC1 | SUMO2 | P55855 | 390 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SEPTIN3 | SEPTIN6 | psi-mi:“MI:0914”(association) | 0.800 |
| CUL4B | COPS2 | psi-mi:“MI:0914”(association) | 0.790 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| CCT2 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.730 |
| CUL4A | COPS2 | psi-mi:“MI:0914”(association) | 0.640 |
| BCKDK | CETN3 | psi-mi:“MI:0914”(association) | 0.640 |
| CCT3 | TXNDC9 | psi-mi:“MI:0914”(association) | 0.640 |
| ARL4C | RGS12 | psi-mi:“MI:0914”(association) | 0.640 |
| BOD1 | WDTC1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PNOC | CETN3 | psi-mi:“MI:0914”(association) | 0.530 |
| TRMT10B | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| ARHGAP44 | VPS26A | psi-mi:“MI:0914”(association) | 0.530 |
| WDTC1 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC25A22 | DNLZ | psi-mi:“MI:0914”(association) | 0.530 |
| BOD1 | PLXDC2 | psi-mi:“MI:0914”(association) | 0.530 |
| CCT7 | PEX7 | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS11 | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| PNOC | NUP155 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | FBXO21 | psi-mi:“MI:0914”(association) | 0.530 |
| APBA3 | CLSTN1 | psi-mi:“MI:0914”(association) | 0.530 |
| GALNS | CLGN | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (409): DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), WDTC1 (Affinity Capture-MS), WDTC1 (Affinity Capture-MS), WDTC1 (Affinity Capture-MS), WDTC1 (Affinity Capture-MS), WDTC1 (Affinity Capture-MS), WDTC1 (Affinity Capture-Western), WDTC1 (Affinity Capture-Western), DDB1 (Affinity Capture-Western), CUL4A (Affinity Capture-Western), CUL4B (Affinity Capture-Western), RBX1 (Affinity Capture-Western), STXBP4 (Affinity Capture-MS), CUL4A (Affinity Capture-MS)
ESM2 similar proteins: A0A2R8QP51, E9PYK3, E9Q4Z2, G1SPE9, O00763, O15228, O23617, P13676, P13798, P19205, P25154, P35574, P80227, P83006, P98192, Q10MJ1, Q2PQH8, Q338C0, Q496Z0, Q5EBA1, Q5IH13, Q5IH14, Q5R5S1, Q5U5V2, Q5ZIB9, Q641Y5, Q6V1X1, Q6YXW6, Q80YA7, Q80YD1, Q80ZK9, Q86TI2, Q8BVG4, Q8C0P5, Q8C5P5, Q8IYB8, Q8K4M9, Q8N5D0, Q8R146, Q8VZF3
Diamond homologs: A4K2V0, A6HD62, A6ZRW3, D7REX8, F1RBN2, F4IRM4, F4JTI1, F4K487, F4KCL7, O13754, O14217, O16259, O35814, O48802, O54981, O94826, O95801, P07213, P23231, P25638, P31948, P33313, P38825, P53041, P53042, Q07617, Q12118, Q13451, Q15785, Q32PZ3, Q3KRD5, Q3ZBR5, Q43207, Q4R8N7, Q5EA11, Q5PPS5, Q5R8D8, Q5RAP0, Q5U2X2, Q5VJS5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 108 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 |
|---|---|---|---|
| Association of TriC/CCT with target proteins during biosynthesis | 5 | 19.3× | 6e-04 |
| DNA Damage Recognition in GG-NER | 5 | 18.8× | 6e-04 |
| Formation of TC-NER Pre-Incision Complex | 5 | 13.9× | 1e-03 |
| Neddylation | 9 | 5.6× | 1e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| binding of sperm to zona pellucida | 6 | 25.3× | 5e-05 |
| protein folding | 8 | 8.3× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
87 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 68 |
| Likely benign | 0 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4813977 | NM_001276252.2(WDTC1):c.1099C>T (p.Gln367Ter) | Likely pathogenic |
SpliceAI
3200 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:27263148:CTAG:C | acceptor_loss | 1.0000 |
| 1:27263149:TAG:T | acceptor_loss | 1.0000 |
| 1:27263150:A:AC | acceptor_loss | 1.0000 |
| 1:27263151:GGA:G | acceptor_gain | 1.0000 |
| 1:27263151:GGAGC:G | acceptor_gain | 1.0000 |
| 1:27263235:GGT:G | donor_loss | 1.0000 |
| 1:27263236:G:C | donor_loss | 1.0000 |
| 1:27263237:T:G | donor_loss | 1.0000 |
| 1:27282281:GGAGA:G | donor_gain | 1.0000 |
| 1:27282282:GAGA:G | donor_gain | 1.0000 |
| 1:27282282:GAGAG:G | donor_gain | 1.0000 |
| 1:27282283:A:T | donor_gain | 1.0000 |
| 1:27282284:GA:G | donor_gain | 1.0000 |
| 1:27282286:G:GG | donor_gain | 1.0000 |
| 1:27283334:TCAG:T | acceptor_loss | 1.0000 |
| 1:27283335:CA:C | acceptor_loss | 1.0000 |
| 1:27283336:A:AG | acceptor_gain | 1.0000 |
| 1:27283336:A:C | acceptor_loss | 1.0000 |
| 1:27283336:AGCTT:A | acceptor_gain | 1.0000 |
| 1:27283337:G:GG | acceptor_gain | 1.0000 |
| 1:27283337:GC:G | acceptor_gain | 1.0000 |
| 1:27283337:GCT:G | acceptor_gain | 1.0000 |
| 1:27283337:GCTT:G | acceptor_gain | 1.0000 |
| 1:27283337:GCTTG:G | acceptor_gain | 1.0000 |
| 1:27287671:T:G | acceptor_gain | 1.0000 |
| 1:27287672:A:AG | acceptor_gain | 1.0000 |
| 1:27287673:G:GG | acceptor_gain | 1.0000 |
| 1:27287673:GTTC:G | acceptor_gain | 1.0000 |
| 1:27292213:A:AG | acceptor_gain | 1.0000 |
| 1:27292214:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
4486 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:27263231:T:C | L43P | 1.000 |
| 1:27282244:C:A | H46Q | 1.000 |
| 1:27282244:C:G | H46Q | 1.000 |
| 1:27282249:G:A | G48E | 1.000 |
| 1:27282251:T:A | C49S | 1.000 |
| 1:27282251:T:C | C49R | 1.000 |
| 1:27282252:G:A | C49Y | 1.000 |
| 1:27282252:G:C | C49S | 1.000 |
| 1:27282254:G:T | V50F | 1.000 |
| 1:27282255:T:A | V50D | 1.000 |
| 1:27282257:A:G | N51D | 1.000 |
| 1:27282259:C:A | N51K | 1.000 |
| 1:27282259:C:G | N51K | 1.000 |
| 1:27282264:T:C | L53P | 1.000 |
| 1:27282269:T:A | W55R | 1.000 |
| 1:27282269:T:C | W55R | 1.000 |
| 1:27282270:G:C | W55S | 1.000 |
| 1:27282271:G:C | W55C | 1.000 |
| 1:27282271:G:T | W55C | 1.000 |
| 1:27283343:T:C | L62P | 1.000 |
| 1:27283346:C:A | A63D | 1.000 |
| 1:27283348:T:C | S64P | 1.000 |
| 1:27283349:C:A | S64Y | 1.000 |
| 1:27283349:C:T | S64F | 1.000 |
| 1:27283352:G:A | G65D | 1.000 |
| 1:27283354:T:C | S66P | 1.000 |
| 1:27283355:C:T | S66F | 1.000 |
| 1:27283357:G:C | D67H | 1.000 |
| 1:27283357:G:T | D67Y | 1.000 |
| 1:27283358:A:C | D67A | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000009528 (1:27235437 T>TCC), RS1000013999 (1:27276075 A>G), RS1000023631 (1:27304254 C>T), RS1000082223 (1:27261504 T>C), RS1000087532 (1:27283849 A>C), RS1000174509 (1:27297284 A>T), RS1000204775 (1:27305723 G>A), RS1000267951 (1:27261068 A>G), RS1000285456 (1:27255602 T>C), RS1000388349 (1:27248199 C>G), RS1000429174 (1:27241274 T>C), RS1000441129 (1:27299192 T>C), RS1000504379 (1:27304585 C>T), RS1000535320 (1:27304265 T>C), RS1000567870 (1:27254275 C>T)
Disease associations
OMIM: gene MIM:619763 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, affects cotreatment, decreases expression, increases abundance | 3 |
| Arsenic | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| Rotenone | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | increases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| azoxystrobin | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| deguelin | decreases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| thifluzamide | decreases expression | 1 |
| pyrachlostrobin | decreases expression | 1 |
| picoxystrobin | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Acetaminophen | increases expression | 1 |
| Antimycin A | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diazinon | increases methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Tetrachlorodibenzodioxin | affects expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.