TRIM15
gene geneOn this page
Also known as ZNFB7RNF93
Summary
TRIM15 (tripartite motif containing 15, HGNC:16284) is a protein-coding gene on chromosome 6p22.1, encoding E3 ubiquitin-protein ligase TRIM15 (Q9C019). E3 ubiquitin ligase that plays a role in several processes including innate antiviral immnity, cell migration and chemotaxis.
The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to the cytoplasm. Alternatively spliced transcript variants have been described, but their biological validity has not been determined.
Source: NCBI Gene 89870 — RefSeq curated summary.
At a glance
- GWAS associations: 23
- Clinical variants (ClinVar): 48 total
- MANE Select transcript:
NM_033229
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16284 |
| Approved symbol | TRIM15 |
| Name | tripartite motif containing 15 |
| Location | 6p22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ZNFB7, RNF93 |
| Ensembl gene | ENSG00000204610 |
| Ensembl biotype | protein_coding |
| Entrez | 89870 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000376694, ENST00000433744, ENST00000477944, ENST00000619857, ENST00000854373, ENST00000854374, ENST00000854375, ENST00000854376
RefSeq mRNA: 1 — MANE Select: NM_033229
NM_033229
CCDS: CCDS4677
Canonical transcript exons
ENST00000259930 — 0 exons
Expression profiles
Bgee: expression breadth broad, 69 present calls, max score 95.31.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2215 / max 34.8889, expressed in 66 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 66706 | 0.1454 | 41 |
| 66704 | 0.0481 | 30 |
| 66705 | 0.0280 | 19 |
Top tissues by expression
105 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| duodenum | UBERON:0002114 | 95.31 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.64 | gold quality |
| rectum | UBERON:0001052 | 93.56 | gold quality |
| right lobe of liver | UBERON:0001114 | 83.41 | gold quality |
| transverse colon | UBERON:0001157 | 83.11 | gold quality |
| liver | UBERON:0002107 | 82.31 | gold quality |
| small intestine | UBERON:0002108 | 82.12 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 81.98 | gold quality |
| gall bladder | UBERON:0002110 | 81.78 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 76.30 | gold quality |
| vermiform appendix | UBERON:0001154 | 74.44 | gold quality |
| intestine | UBERON:0000160 | 72.92 | gold quality |
| kidney | UBERON:0002113 | 69.37 | gold quality |
| colon | UBERON:0001155 | 69.20 | gold quality |
| colonic epithelium | UBERON:0000397 | 63.03 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 61.28 | gold quality |
| islet of Langerhans | UBERON:0000006 | 60.12 | gold quality |
| cortex of kidney | UBERON:0001225 | 59.50 | gold quality |
| metanephros cortex | UBERON:0010533 | 55.74 | gold quality |
| skin of leg | UBERON:0001511 | 54.13 | gold quality |
| zone of skin | UBERON:0000014 | 51.80 | gold quality |
| bone marrow | UBERON:0002371 | 51.58 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 50.45 | gold quality |
| leukocyte | CL:0000738 | 49.38 | gold quality |
| monocyte | CL:0000576 | 49.15 | gold quality |
| skin of abdomen | UBERON:0001416 | 48.24 | gold quality |
| bone marrow cell | CL:0002092 | 47.42 | gold quality |
| pancreas | UBERON:0001264 | 46.53 | gold quality |
| granulocyte | CL:0000094 | 43.43 | silver quality |
| lower esophagus mucosa | UBERON:0035834 | 43.35 | silver quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10018 | yes | 6.33 |
| E-ANND-3 | no | 1.37 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
1 targets.
| Target | Regulation |
|---|---|
| JUN | Activation |
miRNA regulators (miRDB)
33 targeting TRIM15, 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-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-142-5P | 99.48 | 70.92 | 2416 |
| HSA-MIR-5590-3P | 99.48 | 70.91 | 2429 |
| HSA-MIR-4270 | 99.02 | 66.26 | 1987 |
Literature-anchored findings (GeneRIF, showing 8)
- Downregulation of TRIM11 and TRIM15 enhanced virus release suggesting that these proteins contribute to the endogenous restriction of retroviruses in cells. (PMID:18248090)
- TRIM15-depleted cells display impaired cell migration and reduced focal adhesion disassembly rates. (PMID:25015296)
- TRIM15 may function as a tumor suppressor of colon cancer. (PMID:25450970)
- TCGA database showed that higher TRIM15 RNA transcription indicates poorer overall survival of gastric cancer patients. Besides, low expression of TRIM15 was significantly associated with advanced tumor invasion depth and advanced TNM stage. (PMID:30412518)
- Knockdown of TRIM15 inhibits the proliferation, migration and invasion of esophageal squamous cell carcinoma cells through inactivation of the Wnt/beta-catenin signaling pathway. (PMID:33515345)
- TRIM15 and CYLD regulate ERK activation via lysine-63-linked polyubiquitination. (PMID:34497368)
- E3 ligase TRIM15 facilitates non-small cell lung cancer progression through mediating Keap1-Nrf2 signaling pathway. (PMID:35534896)
- TRIM15 forms a regulatory loop with the AKT/FOXO1 axis and LASP1 to modulate the sensitivity of HCC cells to TKIs. (PMID:36670097)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Trim15 | ENSMUSG00000050747 |
| rattus_norvegicus | Trim15 | ENSRNOG00000031689 |
Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM47 (ENSG00000132481), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890)
Protein
Protein identifiers
E3 ubiquitin-protein ligase TRIM15 — Q9C019 (reviewed: Q9C019)
Alternative names: RING finger protein 93, Zinc finger protein 178, Zinc finger protein B7
All UniProt accessions (4): Q9C019, A0A087X199, H0Y5R0, Q5SRL0
UniProt curated annotations — full annotation on UniProt →
Function. E3 ubiquitin ligase that plays a role in several processes including innate antiviral immnity, cell migration and chemotaxis. Acts as a ‘Lys-63’-specific ubiquitin ligase for MAPK1/ERK2 and MAPK3/ERK1, promoting their activation by facilitating their interaction with MAP2K1 and MAP2K2. Also plays a role in cell migration and chemotaxis by acting as a stable focal adhesion component upon recruitment by multi-adapter protein paxillin/PXN. Functions in the RIGI-mediated interferon induction pathway upstream or at the level of MAVS. Inhibits NF-kappa-B activation by turnover of ‘Lys-63’-linked ubiquitination of MAP3K7/TAK1. Mechanistically, prevents TRIM8 cytoplasmic translocation and thus inhibits TRIM8-mediated ‘Lys-63’-linked polyubiquitination of MAP3K7/TAK1 in the cytoplasm. Also plays an important regulatory effect on the activation of hepatic stellate cells (HSCs).
Subunit / interactions. Interacts with paxillin/PXN; this interaction recruits TRIM15 to focal adhesions. Interacts with TRIM8; this interaction prevents TRIM8 cytoplasmic translocation.
Subcellular location. Cytoplasm. Nucleus. Cell junction. Focal adhesion.
Induction. By TNF.
Similarity. Belongs to the TRIM/RBCC family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9C019-1 | 1, Alpha | yes |
| Q9C019-2 | 2, Beta |
RefSeq proteins (1): NP_150232* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000315 | Znf_B-box | Domain |
| IPR001841 | Znf_RING | Domain |
| IPR001870 | B30.2/SPRY | Domain |
| IPR003877 | SPRY_dom | Domain |
| IPR003879 | Butyrophylin_SPRY | Domain |
| IPR006574 | PRY | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR013320 | ConA-like_dom_sf | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR018957 | Znf_C3HC4_RING-type | Domain |
| IPR043136 | B30.2/SPRY_sf | Homologous_superfamily |
| IPR050143 | TRIM/RBCC | Family |
Pfam: PF00097, PF00622, PF00643, PF13765
UniProt features (35 total): strand 15, sequence variant 5, binding site 4, turn 3, splice variant 2, zinc finger region 2, chain 1, domain 1, helix 1, coiled-coil region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7QS2 | X-RAY DIFFRACTION | 1.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9C019-F1 | 84.52 | 0.51 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 83; 86; 105; 111
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 175 (showing top):
GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GATA3_01, GOBP_CELL_FATE_COMMITMENT_INVOLVED_IN_FORMATION_OF_PRIMARY_GERM_LAYER, MODULE_379, GOBP_REGULATION_OF_BIOLOGICAL_PROCESS_INVOLVED_IN_SYMBIOTIC_INTERACTION, GOBP_CYTOKINE_PRODUCTION, GOBP_REGULATION_OF_RESPONSE_TO_STRESS
GO Biological Process (10): mesodermal cell fate determination (GO:0007500), positive regulation of type I interferon production (GO:0032481), suppression of viral release by host (GO:0044790), innate immune response (GO:0045087), positive regulation of RIG-I signaling pathway (GO:1900246), negative regulation of non-canonical NF-kappaB signal transduction (GO:1901223), negative regulation of intracellular transport of viral material (GO:1901253), canonical NF-kappaB signal transduction (GO:0007249), positive regulation of DNA-templated transcription (GO:0045893), protein K63-linked ubiquitination (GO:0070534)
GO Molecular Function (7): transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), molecular sequestering activity (GO:0140313), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), cytoplasm (GO:0005737), focal adhesion (GO:0005925), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell fate determination | 1 |
| mesodermal cell fate commitment | 1 |
| positive regulation of cytokine production | 1 |
| regulation of type I interferon production | 1 |
| type I interferon production | 1 |
| defense response to virus | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| RIG-I signaling pathway | 1 |
| regulation of RIG-I signaling pathway | 1 |
| positive regulation of pattern recognition receptor signaling pathway | 1 |
| positive regulation of intracellular signal transduction | 1 |
| non-canonical NF-kappaB signal transduction | 1 |
| regulation of non-canonical NF-kappaB signal transduction | 1 |
| negative regulation of intracellular signal transduction | 1 |
| intracellular transport of virus | 1 |
| regulation of intracellular transport of viral material | 1 |
| negative regulation of viral life cycle | 1 |
| intracellular signaling cassette | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| protein polyubiquitination | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| molecular_function | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cell-substrate junction | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
772 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRIM15 | TRAT1 | Q6PIZ9 | 594 |
| TRIM15 | GPC5 | P78333 | 517 |
| TRIM15 | PRY | O14603 | 506 |
| TRIM15 | PXN | P49023 | 495 |
| TRIM15 | METTL1 | Q9UBP6 | 492 |
| TRIM15 | CD6 | P30203 | 491 |
| TRIM15 | MAVS | Q7Z434 | 476 |
| TRIM15 | AKAP17A | Q02040 | 470 |
| TRIM15 | BBOX1 | O75936 | 462 |
| TRIM15 | TRIM66 | O15016 | 456 |
| TRIM15 | HLA-DRB5 | Q30154 | 436 |
| TRIM15 | TRIM29 | Q14134 | 433 |
| TRIM15 | OR12D3 | Q9UGF7 | 433 |
| TRIM15 | HLA-DPB1 | P01916 | 425 |
| TRIM15 | CLEC16A | Q2KHT3 | 425 |
IntAct
34 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRIM15 | FAM161A | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM151B | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RABGEF1 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM161A | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM15 | FAM151B | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM15 | RABGEF1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AXIN1 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| YJU2 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDK6 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM161B | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRIM15 | TINF2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ACD | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| UBE2U | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SNW1 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| GTF2E1 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| IRF5 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MYBL2 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TAF9B | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| EHMT1 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM15 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MED7 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRIM8 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.370 |
| YJU2 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.000 |
| CDK6 | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.000 |
| FAM161B | TRIM15 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (115): TRIM15 (Two-hybrid), TRIM15 (Two-hybrid), FAM151B (Two-hybrid), PXN (Affinity Capture-Western), TRIM15 (Affinity Capture-Western), PXN (Reconstituted Complex), TRIM15 (Synthetic Growth Defect), TRIM15 (Synthetic Growth Defect), TRIM15 (PCA), TRIM15 (Affinity Capture-Western), CORO1B (Affinity Capture-Western), CTTN (Affinity Capture-Western), FBLIM1 (Affinity Capture-Western), VASP (Affinity Capture-Western), AKT1 (PCA)
ESM2 similar proteins: A0JN74, A6NCK2, A6NGJ6, A6NI03, B1H278, K7N6K2, O00478, O00481, P14373, P19474, Q13410, Q1ACD5, Q1ACD6, Q1ACD7, Q1ACD8, Q1XHU0, Q2YEM8, Q2YEM9, Q3ZEE5, Q587N6, Q5C8T6, Q5C8T8, Q5C8U1, Q5D7I9, Q5D7J0, Q5D7J1, Q5NCC9, Q5R996, Q62158, Q6MFZ5, Q7YR33, Q7YRV4, Q80V85, Q8BGE7, Q8NG06, Q923T7, Q96BQ3, Q96F44, Q99PP6, Q99PQ2
Diamond homologs: A0A0E4BZH1, A0JN74, A4QPC6, A6NGJ6, A6NI03, A6NK02, A6NLU0, A7TZE6, A7TZF0, A7TZF3, A7XUX6, A7XUY5, A7XUZ6, A7XV04, A7XV07, A8MVZ5, B1H278, D4ABM4, F8S122, F8VTS6, O00478, O00481, O00635, O15553, O70355, O75677, O75678, O75679, P14373, P18892, P19474, P55803, P78410, Q02084, Q13410, Q1XHU0, Q27J48, Q2T9Z0, Q3UWZ0, Q495X7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | TRIM15 | ubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
48 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1032 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:30164064:GG:G | donor_gain | 1.0000 |
| 6:30164064:GGGTA:G | donor_loss | 1.0000 |
| 6:30164065:GG:G | donor_gain | 1.0000 |
| 6:30164066:G:GC | donor_loss | 1.0000 |
| 6:30164066:G:GG | donor_gain | 1.0000 |
| 6:30164067:T:A | donor_loss | 1.0000 |
| 6:30167230:G:GT | donor_gain | 1.0000 |
| 6:30168290:T:G | acceptor_gain | 1.0000 |
| 6:30168295:T:A | acceptor_gain | 1.0000 |
| 6:30168298:A:AC | acceptor_loss | 1.0000 |
| 6:30168298:A:AG | acceptor_gain | 1.0000 |
| 6:30168299:G:GA | acceptor_gain | 1.0000 |
| 6:30168299:GA:G | acceptor_gain | 1.0000 |
| 6:30168299:GACTC:G | acceptor_gain | 1.0000 |
| 6:30168456:G:GT | donor_gain | 1.0000 |
| 6:30168513:GCAA:G | donor_gain | 1.0000 |
| 6:30168517:G:GG | donor_gain | 1.0000 |
| 6:30168531:G:GG | donor_gain | 1.0000 |
| 6:30168557:GA:G | donor_gain | 1.0000 |
| 6:30169259:AGCAG:A | donor_loss | 1.0000 |
| 6:30169260:GCAGG:G | donor_loss | 1.0000 |
| 6:30169261:CAGGT:C | donor_loss | 1.0000 |
| 6:30169262:AG:A | donor_loss | 1.0000 |
| 6:30169263:GGT:G | donor_loss | 1.0000 |
| 6:30170495:CTGCA:C | acceptor_loss | 1.0000 |
| 6:30170496:TGCA:T | acceptor_loss | 1.0000 |
| 6:30170497:GCAGG:G | acceptor_loss | 1.0000 |
| 6:30170498:CA:C | acceptor_loss | 1.0000 |
| 6:30170499:AGGTG:A | acceptor_loss | 1.0000 |
| 6:30170500:G:T | acceptor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000193870 (6:30166777 C>A,T), RS1000368816 (6:30173109 G>A), RS1000439832 (6:30169245 T>A,C), RS1000698966 (6:30171701 C>A), RS1000806121 (6:30164911 C>T), RS1000924326 (6:30165308 G>A), RS1000978550 (6:30171366 G>T), RS1001481965 (6:30167967 G>A), RS1001514069 (6:30162116 A>C), RS1001947236 (6:30168896 G>T), RS1002106446 (6:30163939 G>C,T), RS1002358106 (6:30170070 G>GT), RS1002983063 (6:30164847 A>T), RS1003319967 (6:30163718 G>C), RS1003743956 (6:30172950 G>A)
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
23 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002324_6 | Anger | 8.000000e-07 |
| GCST004521_121 | Autism spectrum disorder or schizophrenia | 3.000000e-13 |
| GCST004521_171 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_2 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_210 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_263 | Autism spectrum disorder or schizophrenia | 7.000000e-17 |
| GCST004521_268 | Autism spectrum disorder or schizophrenia | 7.000000e-12 |
| GCST004521_269 | Autism spectrum disorder or schizophrenia | 7.000000e-11 |
| GCST004521_295 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_3 | Autism spectrum disorder or schizophrenia | 2.000000e-15 |
| GCST004521_44 | Autism spectrum disorder or schizophrenia | 2.000000e-17 |
| GCST004521_56 | Autism spectrum disorder or schizophrenia | 1.000000e-22 |
| GCST004521_70 | Autism spectrum disorder or schizophrenia | 8.000000e-20 |
| GCST004521_79 | Autism spectrum disorder or schizophrenia | 1.000000e-16 |
| GCST005232_23 | Neuroticism | 8.000000e-09 |
| GCST006940_178 | Neurociticism | 2.000000e-08 |
| GCST007993_27 | Asthma (adult onset) | 7.000000e-07 |
| GCST007995_23 | Asthma (childhood onset) | 3.000000e-08 |
| GCST011766_16 | Chronic obstructive pulmonary disease | 8.000000e-08 |
| GCST012576_2 | Tonsillitis | 5.000000e-06 |
| GCST90002384_83 | Hemoglobin | 4.000000e-11 |
| GCST90002390_571 | Mean corpuscular hemoglobin | 4.000000e-18 |
| GCST90002404_251 | Red cell distribution width | 4.000000e-25 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003015 | aggressive behavior |
| EFO:0007660 | neuroticism measurement |
| EFO:1002011 | adult onset asthma |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Acetaminophen | decreases expression, affects response to substance | 3 |
| Tetrachlorodibenzodioxin | increases expression | 3 |
| Benzo(a)pyrene | affects methylation, increases methylation, increases mutagenesis | 2 |
| dicrotophos | decreases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | increases expression | 1 |
| tobacco tar | increases expression, decreases reaction | 1 |
| diallyl disulfide | increases expression, decreases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Capecitabine | increases response to substance | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases response to substance | 1 |
| Air Pollutants | decreases methylation, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Nitrogen Oxides | decreases methylation, increases abundance | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Zinc | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D8XQ | Ubigene HCT 116 TRIM15 KO | Cancer cell line | Male |
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.