WSB1
gene geneOn this page
Also known as DKFZp564A122DKFZp564B0482SWIP1
Summary
WSB1 (WD repeat and SOCS box containing 1, HGNC:19221) is a protein-coding gene on chromosome 17q11.1, encoding WD repeat and SOCS box-containing protein 1 (Q9Y6I7). Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
This gene encodes a member of the WD-protein subfamily. This protein shares a high sequence identity to mouse and chick proteins. It contains several WD-repeats spanning most of the protein and an SOCS box in the C-terminus. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
Source: NCBI Gene 26118 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 77 total
- MANE Select transcript:
NM_015626
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19221 |
| Approved symbol | WSB1 |
| Name | WD repeat and SOCS box containing 1 |
| Location | 17q11.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp564A122, DKFZp564B0482, SWIP1 |
| Ensembl gene | ENSG00000109046 |
| Ensembl biotype | protein_coding |
| OMIM | 610091 |
| Entrez | 26118 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 16 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000262394, ENST00000348811, ENST00000427287, ENST00000467843, ENST00000487603, ENST00000578312, ENST00000579733, ENST00000581089, ENST00000581185, ENST00000581440, ENST00000582208, ENST00000583096, ENST00000583193, ENST00000583742, ENST00000583786, ENST00000584114, ENST00000584354, ENST00000866202, ENST00000866203, ENST00000866204, ENST00000922556, ENST00000922557, ENST00000964189, ENST00000964190
RefSeq mRNA: 3 — MANE Select: NM_015626
NM_001348350, NM_015626, NM_134265
CCDS: CCDS11220, CCDS11221
Canonical transcript exons
ENST00000262394 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003482915 | 27303367 | 27303635 |
| ENSE00003499511 | 27301788 | 27301956 |
| ENSE00003533529 | 27312210 | 27315926 |
| ENSE00003582508 | 27306782 | 27306882 |
| ENSE00003602323 | 27294114 | 27294435 |
| ENSE00003622356 | 27304780 | 27304911 |
| ENSE00003663959 | 27311509 | 27311616 |
| ENSE00003671471 | 27309100 | 27309272 |
| ENSE00003680824 | 27310061 | 27310174 |
Expression profiles
Bgee: expression breadth ubiquitous, 303 present calls, max score 99.27.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 131.1580 / max 1769.5256, expressed in 1827 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 159951 | 130.5197 | 1827 |
| 159956 | 0.6383 | 299 |
Top tissues by expression
303 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| corpus callosum | UBERON:0002336 | 99.27 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.18 | gold quality |
| lower lobe of lung | UBERON:0008949 | 99.15 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.13 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 99.10 | gold quality |
| tibial nerve | UBERON:0001323 | 98.95 | gold quality |
| popliteal artery | UBERON:0002250 | 98.91 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 98.91 | gold quality |
| tibial artery | UBERON:0007610 | 98.91 | gold quality |
| endocervix | UBERON:0000458 | 98.90 | gold quality |
| endothelial cell | CL:0000115 | 98.89 | gold quality |
| left uterine tube | UBERON:0001303 | 98.84 | gold quality |
| artery | UBERON:0001637 | 98.84 | gold quality |
| upper lobe of lung | UBERON:0008948 | 98.84 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 98.80 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.80 | gold quality |
| body of uterus | UBERON:0009853 | 98.80 | gold quality |
| right coronary artery | UBERON:0001625 | 98.75 | gold quality |
| left ovary | UBERON:0002119 | 98.74 | gold quality |
| cauda epididymis | UBERON:0004360 | 98.73 | gold quality |
| renal medulla | UBERON:0000362 | 98.71 | gold quality |
| visceral pleura | UBERON:0002401 | 98.70 | gold quality |
| right lung | UBERON:0002167 | 98.69 | gold quality |
| aorta | UBERON:0000947 | 98.65 | gold quality |
| right ovary | UBERON:0002118 | 98.63 | gold quality |
| spleen | UBERON:0002106 | 98.62 | gold quality |
| gall bladder | UBERON:0002110 | 98.62 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.62 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 98.61 | gold quality |
| medulla oblongata | UBERON:0001896 | 98.60 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 1930.87 |
| E-HCAD-1 | yes | 74.86 |
| E-MTAB-8410 | yes | 18.89 |
| E-CURD-46 | yes | 12.57 |
| E-GEOD-130148 | yes | 10.24 |
| E-CURD-112 | yes | 9.20 |
| E-CURD-135 | no | 3254.58 |
| E-GEOD-81608 | no | 1669.10 |
| E-GEOD-131882 | no | 1659.50 |
| E-MTAB-6108 | no | 1035.29 |
| E-HCAD-31 | no | 2.03 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HIF1A
miRNA regulators (miRDB)
94 targeting WSB1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
Literature-anchored findings (GeneRIF, showing 15)
- WSB-1 is part of an E3 ubiquitin ligase for the thyroid-hormone-activating type 2 iodothyronine deiodinase (D2). (PMID:15965468)
- WSB1 shows strong correlations between expression level and copy number, and also enhances the prognostic prediction when combined with other current prognostic factors in neuroblastoma. (PMID:16804916)
- the regulatory mechanisms by which HIPK2 is maintained at a low level, by WSB-1 in cells under normal conditions, and stabilized by genotoxic stresses. (PMID:18093972)
- Data on WSB1 regulation support the hypothesis that activation of stress-response mechanisms helps cancer cells establishing metastases and suggest relevance to cancer development of other genes overexpressed in xenografts (PMID:18575577)
- HIF1 has a role in regulating WSB-1 expression, which promotes hypoxia-induced chemoresistance in hepatocellular carcinoma cells (PMID:23792163)
- combination of WSB1(3) silencing together with WSB1 isoforms 1+2 silencing in NB cells showed reduced growth, enhanced apoptosis rate, and increased sensitivity to chemotherapeutic agents, specifically related to low expression of WSB1 (PMID:24441107)
- WSB1 up-regulates the expression of HIF-1alpha’s target genes and promotes cancer invasion and metastasis through its effect on pVHL (PMID:26545811)
- howed that miR-592 directly binds to the 3’-UTR of the WSB1 gene, thus disrupting hypoxia inducible factor-1alpha (HIF-1alpha) protein stabilization (PMID:27153552)
- WSB1 in glucose metabolism, and perhaps in mediating the Warburg effect in cancer cells by maintaining the function of HIF1. (PMID:27542736)
- WSB1 is one of the key players of early oncogenic events through ATM degradation and destruction of the tumorigenesis barrier. (PMID:27958289)
- WSB-1 may be an important regulator of aggressive metastatic disease in hormone receptor-negative breast cancer. WSB-1 could therefore represent a novel regulator and therapeutic target for secondary breast cancer in these patients. (PMID:29540773)
- High expression of WSB1 is associated with poor prognosis in hepatocellular carcinoma and affects epithelial-mesenchymal transition. (PMID:33099929)
- WSB1 and IL21R Genetic Variants Are Involved in Th2 Immune Responses to Ascaris lumbricoides. (PMID:33692795)
- WSB1 Involvement in Prostate Cancer Progression. (PMID:37628609)
- WSB1/2 target chromatin-bound lysine-methylated RelA for proteasomal degradation and NF-kappaB termination. (PMID:38452206)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | wsb1 | ENSDARG00000021343 |
| mus_musculus | Wsb1 | ENSMUSG00000017677 |
| rattus_norvegicus | Wsb1 | ENSRNOG00000012929 |
Paralogs (1): WSB2 (ENSG00000176871)
Protein
Protein identifiers
WD repeat and SOCS box-containing protein 1 — Q9Y6I7 (reviewed: Q9Y6I7)
Alternative names: SOCS box-containing WD protein SWiP-1
All UniProt accessions (9): Q9Y6I7, B4DGB8, B4DTL1, J3KRG6, J3KS88, J3KSQ3, J3KT03, J3KTB3, J3QLM8
UniProt curated annotations — full annotation on UniProt →
Function. Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3 ubiquitin ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Recognizes type II iodothyronine deiodinase/DIO2. Confers constitutive instability to HIPK2 through proteasomal degradation.
Subunit / interactions. Interacts with DIO2. Component of the probable ECS(WSB1) E3 ubiquitin ligase complex which contains CUL5, RNF7/RBX2, Elongin BC complex and WSB1. Component of a probable ECS-like E3 ubiquitin-protein ligase complex which contains CUL5, RBX1, Elongin BC complex and WSB1. Interacts with CUL5, RNF7, ELOB and ELOC. Binds to HIPK2 through WD40 repeats.
Domain organisation. The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different E3 ubiquitin ligase complexes.
Pathway. Protein modification; protein ubiquitination.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y6I7-1 | 1 | yes |
| Q9Y6I7-2 | 2 | |
| Q9Y6I7-3 | 3 | |
| Q9Y6I7-4 | 4 |
RefSeq proteins (3): NP_001335279, NP_056441, NP_599027 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001496 | SOCS_box | Domain |
| IPR001680 | WD40_rpt | Repeat |
| IPR015943 | WD40/YVTN_repeat-like_dom_sf | Homologous_superfamily |
| IPR019775 | WD40_repeat_CS | Conserved_site |
| IPR020472 | WD40_PAC1 | Repeat |
| IPR036036 | SOCS_box-like_dom_sf | Homologous_superfamily |
| IPR036322 | WD40_repeat_dom_sf | Homologous_superfamily |
| IPR051983 | WSB_SOCS-box_domain | Family |
Pfam: PF00400, PF07525
UniProt features (19 total): repeat 6, splice variant 5, sequence conflict 5, chain 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y6I7-F1 | 84.61 | 0.62 |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
MSigDB gene sets: 254 (showing top):
AHRARNT_01, GCACCTT_MIR18A_MIR18B, MODULE_97, GCM_MAP4K4, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, AAGCAAT_MIR137, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, MODULE_182, BONCI_TARGETS_OF_MIR15A_AND_MIR16_1, chr17q11, GTGCCTT_MIR506, ONKEN_UVEAL_MELANOMA_UP
GO Biological Process (5): protein polyubiquitination (GO:0000209), intracellular signal transduction (GO:0035556), protein K27-linked ubiquitination (GO:0044314), protein aggregate center assembly (GO:0140454), protein ubiquitination (GO:0016567)
GO Molecular Function (2): ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515)
GO Cellular Component (3): cytosol (GO:0005829), Lewy body (GO:0097413), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| intracellular anatomical structure | 2 |
| cellular anatomical structure | 2 |
| protein ubiquitination | 1 |
| signal transduction | 1 |
| protein polyubiquitination | 1 |
| cellular component assembly | 1 |
| protein modification by small protein conjugation | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| cytoplasm | 1 |
| inclusion body | 1 |
Protein interactions and networks
STRING
1826 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| WSB1 | CUL5 | Q93034 | 818 |
| WSB1 | RBX1 | P62877 | 797 |
| WSB1 | CTCF | P49711 | 781 |
| WSB1 | NF1 | P21359 | 721 |
| WSB1 | IGF2 | P01344 | 693 |
| WSB1 | HIPK2 | Q9H2X6 | 667 |
| WSB1 | USP33 | Q8TEY7 | 666 |
| WSB1 | CISH | Q9NSE2 | 646 |
| WSB1 | ELOB | Q15370 | 633 |
| WSB1 | CTCFL | Q8NI51 | 629 |
| WSB1 | DIO2 | Q92813 | 605 |
| WSB1 | USP20 | Q9Y2K6 | 593 |
| WSB1 | ELOC | Q15369 | 576 |
| WSB1 | COX7A1 | P24310 | 560 |
| WSB1 | MNT | Q99583 | 548 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL5 | SOCS2 | psi-mi:“MI:0914”(association) | 0.880 |
| CUL5 | SOCS6 | psi-mi:“MI:0914”(association) | 0.640 |
| CUL5 | SOCS7 | psi-mi:“MI:0914”(association) | 0.640 |
| WSB1 | VHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRK2 | WSB1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| WSB1 | LRRK2 | psi-mi:“MI:0403”(colocalization) | 0.540 |
| RNF7 | SOCS7 | psi-mi:“MI:0914”(association) | 0.530 |
| WSB1 | Hipk2 | psi-mi:“MI:0915”(physical association) | 0.520 |
| Hipk2 | WSB1 | psi-mi:“MI:0915”(physical association) | 0.520 |
| HIPK2 | WSB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GSK3B | WSB1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | SNHG32 | psi-mi:“MI:0914”(association) | 0.350 |
| DCUN1D1 | RGSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL5 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| RNF7 | SOCS2 | psi-mi:“MI:0914”(association) | 0.350 |
| ezrA | WSB1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (537): DIO2 (Biochemical Activity), ARHGDIB (Affinity Capture-Western), WSB1 (Affinity Capture-Western), WSB1 (Affinity Capture-MS), WSB1 (Affinity Capture-Western), LRRK2 (Affinity Capture-Western), LRRK2 (Biochemical Activity), UBE2D2 (Reconstituted Complex), WSB1 (Affinity Capture-RNA), WSB1 (Affinity Capture-MS), WSB1 (Proximity Label-MS), WSB1 (Affinity Capture-MS), WSB1 (Affinity Capture-MS), WSB1 (Affinity Capture-MS), WSB1 (Negative Genetic)
ESM2 similar proteins: A0JM23, A0JP70, B2RZ17, E1BVR9, O14727, O54927, O88879, O94952, P0CI65, Q08BB3, Q08DV6, Q13309, Q32KQ2, Q3U3W5, Q3U821, Q3UDP0, Q3UMR0, Q3UR70, Q58D00, Q5R5S1, Q5REW9, Q5XJS5, Q60584, Q68EI0, Q6AX81, Q6AZT7, Q6DFC6, Q6P1V3, Q6P2P2, Q6P2S7, Q6ZMY6, Q7T2F6, Q7TNH6, Q7Z494, Q8BHD1, Q8C5V5, Q8IWA0, Q8NA23, Q8VDH1, Q96NW4
Diamond homologs: A0CH87, A0DB19, A1CF18, A1CUD6, A7S338, A8NEG8, A8XZJ9, A9V790, B0LSW3, B0XM00, B2AEZ5, B2B766, B2VWG7, B3MEY6, B3NPW0, B3S4I5, B4GAJ1, B4HSL3, B4JWA1, B4KT48, B4LQ21, B4MY65, B4P6P9, B4QHG6, B5X3C4, B5X3Z6, B6GZD3, B6HP56, B6QC06, B7FNU7, B7PS00, B8N9H4, B8P4B0, B8PD53, B9WD30, C0NRC6, C0S902, C1GB49, C3XVT5, C4Q0P6
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| WSB1 | down-regulates | HIPK2 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 16 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 |
|---|---|---|---|
| Neddylation | 6 | 21.9× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 6 | 26.1× | 6e-06 |
| protein ubiquitination | 6 | 20.7× | 2e-05 |
| intracellular signal transduction | 6 | 19.1× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1735 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:27301957:G:GG | donor_gain | 1.0000 |
| 17:27304770:T:G | acceptor_gain | 1.0000 |
| 17:27304772:A:AG | acceptor_gain | 1.0000 |
| 17:27304773:T:G | acceptor_gain | 1.0000 |
| 17:27304776:TTAG:T | acceptor_loss | 1.0000 |
| 17:27304777:TA:T | acceptor_loss | 1.0000 |
| 17:27304778:A:AC | acceptor_loss | 1.0000 |
| 17:27304778:A:AG | acceptor_gain | 1.0000 |
| 17:27304778:AG:A | acceptor_gain | 1.0000 |
| 17:27304779:G:A | acceptor_loss | 1.0000 |
| 17:27304779:G:GA | acceptor_gain | 1.0000 |
| 17:27304779:GG:G | acceptor_gain | 1.0000 |
| 17:27304779:GGA:G | acceptor_gain | 1.0000 |
| 17:27304779:GGAA:G | acceptor_gain | 1.0000 |
| 17:27304779:GGAAA:G | acceptor_gain | 1.0000 |
| 17:27304908:GATG:G | donor_gain | 1.0000 |
| 17:27304911:GGTA:G | donor_loss | 1.0000 |
| 17:27304912:G:GC | donor_loss | 1.0000 |
| 17:27304912:G:GG | donor_gain | 1.0000 |
| 17:27304913:T:A | donor_loss | 1.0000 |
| 17:27306880:GCA:G | donor_gain | 1.0000 |
| 17:27306883:G:GG | donor_gain | 1.0000 |
| 17:27308665:G:GT | donor_gain | 1.0000 |
| 17:27308668:G:GG | donor_gain | 1.0000 |
| 17:27309093:A:AG | acceptor_gain | 1.0000 |
| 17:27309093:ATT:A | acceptor_gain | 1.0000 |
| 17:27309094:T:G | acceptor_gain | 1.0000 |
| 17:27309094:TTGCA:T | acceptor_loss | 1.0000 |
| 17:27309095:T:A | acceptor_gain | 1.0000 |
| 17:27309095:TGCAG:T | acceptor_loss | 1.0000 |
AlphaMissense
2770 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:27304893:T:A | W198R | 1.000 |
| 17:27304893:T:C | W198R | 1.000 |
| 17:27301896:C:A | A50D | 0.999 |
| 17:27303588:C:A | A144D | 0.999 |
| 17:27303620:T:A | W155R | 0.999 |
| 17:27303620:T:C | W155R | 0.999 |
| 17:27304885:T:C | L195P | 0.999 |
| 17:27304895:G:C | W198C | 0.999 |
| 17:27304895:G:T | W198C | 0.999 |
| 17:27306859:T:C | C230R | 0.999 |
| 17:27309101:T:A | V238D | 0.999 |
| 17:27309109:T:A | W241R | 0.999 |
| 17:27309109:T:C | W241R | 0.999 |
| 17:27309203:C:A | A272D | 0.999 |
| 17:27310158:A:C | S328R | 0.999 |
| 17:27310160:C:A | S328R | 0.999 |
| 17:27310160:C:G | S328R | 0.999 |
| 17:27303486:T:A | V110D | 0.998 |
| 17:27303585:T:C | L143P | 0.998 |
| 17:27303593:G:T | G146W | 0.998 |
| 17:27304819:T:A | V173D | 0.998 |
| 17:27304834:T:C | F178S | 0.998 |
| 17:27304863:T:C | S188P | 0.998 |
| 17:27304867:C:A | A189D | 0.998 |
| 17:27304869:T:C | S190P | 0.998 |
| 17:27304875:G:C | D192H | 0.998 |
| 17:27304876:A:T | D192V | 0.998 |
| 17:27304894:G:C | W198S | 0.998 |
| 17:27306861:T:G | C230W | 0.998 |
| 17:27306862:T:C | S231P | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000171764 (17:27312524 ATAT>A), RS1000393546 (17:27305954 T>C), RS1000453720 (17:27312774 T>A), RS1000497727 (17:27313603 T>C), RS1000905554 (17:27301647 C>T), RS1000964794 (17:27307891 C>T), RS1001079151 (17:27296558 A>G), RS1001081718 (17:27307354 ATTGT>A), RS1001509515 (17:27306365 A>C), RS1001559434 (17:27313220 A>C,G), RS1001665217 (17:27313087 T>C), RS1001737204 (17:27301052 A>G), RS1001797178 (17:27306546 A>C), RS1001847860 (17:27308105 A>G), RS1002129416 (17:27308452 T>C)
Disease associations
OMIM: gene MIM:610091 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001063_2 | Chronic myeloid leukemia | 1.000000e-12 |
| GCST001713_19 | Dental caries | 7.000000e-07 |
| GCST008362_20 | Birth weight | 2.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004344 | birth weight |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
63 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases expression, affects cotreatment, decreases expression | 8 |
| sodium arsenite | increases expression, affects expression, decreases expression | 4 |
| Acetaminophen | affects expression, increases expression | 3 |
| cobaltous chloride | increases expression, decreases reaction | 2 |
| Resveratrol | increases expression, decreases expression, affects cotreatment | 2 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Ethanol | affects cotreatment, increases expression, decreases expression, increases abundance | 2 |
| Calcitriol | increases expression, affects cotreatment | 2 |
| Tretinoin | increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | affects expression, decreases expression | 2 |
| Particulate Matter | increases expression, affects cotreatment, decreases expression, increases abundance | 2 |
| aristolochic acid I | decreases expression | 1 |
| pirinixic acid | affects binding, increases activity, increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| decabromobiphenyl ether | affects binding, increases reaction | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects expression | 1 |
| zinc chloride | decreases reaction, increases expression | 1 |
| linalool | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7HS | Ubigene HEK293T WSB1 KO | Transformed cell line | Female |
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): chronic myeloid leukemia, dental caries