TRIM31

Summary

TRIM31 (tripartite motif containing 31, HGNC:16289) is a protein-coding gene on chromosome 6p22.1, encoding E3 ubiquitin-protein ligase TRIM31 (Q9BZY9). E3 ubiquitin-protein ligase that acts as a regulator of antiviral immune response and inflammation by mediating ubiquitination of substrates.

This gene encodes a protein that functions as an E3 ubiquitin-protein ligase. This gene shows altered expression in certain tumors and may be a negative regulator of cell growth. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 11074 — RefSeq curated summary.

At a glance

• GWAS associations: 38
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_007028

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:16289
Approved symbol	TRIM31
Name	tripartite motif containing 31
Location	6p22.1
Locus type	gene with protein product
Status	Approved
Aliases	RNF, HCGI, C6orf13, HCG1
Ensembl gene	ENSG00000204616
Ensembl biotype	protein_coding
OMIM	609316
Entrez	11074

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 5 protein_coding, 5 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000376734, ENST00000468264, ENST00000471695, ENST00000480808, ENST00000484583, ENST00000485864, ENST00000493404, ENST00000873799, ENST00000873800, ENST00000960266, ENST00000960267

RefSeq mRNA: 1 — MANE Select: NM_007028 NM_007028

CCDS: CCDS34374

Canonical transcript exons

ENST00000357569 — 0 exons

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 98.03.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1021 / max 13.2417, expressed in 43 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
72492	0.0752	34
72494	0.0171	8
72493	0.0098	6

Top tissues by expression

132 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	98.03	gold quality
rectum	UBERON:0001052	97.71	gold quality
duodenum	UBERON:0002114	92.22	gold quality
transverse colon	UBERON:0001157	85.96	gold quality
vermiform appendix	UBERON:0001154	85.36	gold quality
small intestine Peyer’s patch	UBERON:0003454	82.85	gold quality
small intestine	UBERON:0002108	82.16	gold quality
gall bladder	UBERON:0002110	79.76	gold quality
urinary bladder	UBERON:0001255	78.73	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.02	silver quality
intestine	UBERON:0000160	74.66	gold quality
colonic epithelium	UBERON:0000397	73.67	gold quality
right testis	UBERON:0004534	73.09	gold quality
left testis	UBERON:0004533	72.86	gold quality
testis	UBERON:0000473	72.24	gold quality
body of stomach	UBERON:0001161	72.23	gold quality
mucosa of stomach	UBERON:0001199	71.97	gold quality
colon	UBERON:0001155	71.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	71.80	gold quality
stomach	UBERON:0000945	70.37	gold quality
smooth muscle tissue	UBERON:0001135	69.30	gold quality
right adrenal gland	UBERON:0001233	68.34	gold quality
right uterine tube	UBERON:0001302	68.15	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	67.95	gold quality
right adrenal gland cortex	UBERON:0035827	67.85	gold quality
left adrenal gland cortex	UBERON:0035825	67.61	gold quality
islet of Langerhans	UBERON:0000006	66.81	gold quality
left adrenal gland	UBERON:0001234	66.57	gold quality
adrenal gland	UBERON:0002369	62.85	gold quality
endometrium	UBERON:0001295	62.04	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	12.71

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
JUN	Activation

miRNA regulators (miRDB)

30 targeting TRIM31, 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-548AT-5P	99.96	70.83	2666
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4762-5P	99.57	68.54	1424
HSA-MIR-6716-5P	99.56	68.62	1244
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-6731-5P	99.28	67.42	2375
HSA-MIR-8085	99.28	67.56	2362
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-520G-3P	98.91	67.38	1914
HSA-MIR-520H	98.91	67.38	1914
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-30C-1-3P	97.80	66.36	1499
HSA-MIR-30C-2-3P	97.80	66.45	1499
HSA-MIR-6788-5P	97.80	66.41	1532
HSA-MIR-3144-5P	97.64	65.45	646
HSA-MIR-5194	96.77	63.91	1021
HSA-MIR-6738-5P	96.33	63.61	815
HSA-MIR-6777-3P	95.35	64.30	699
HSA-MIR-1914-3P	95.07	63.37	762
HSA-MIR-551A	93.83	70.97	38
HSA-MIR-551B-3P	93.83	70.97	38

Literature-anchored findings (GeneRIF, showing 25)

• The cellular level of TRIM31, an RBCC protein overexpressed in gastric cancer, is regulated by multiple mechanisms including the ubiquitin-proteasome system. (PMID:21231912)
• The TRIm31 gene is related to intelligence in an ADHD background. (PMID:21302343)
• TRIM31 might serve as a tumor suppressor in non-small cell lung cancer. (PMID:24566900)
• TRIM31 directly binds to NSE4, suggesting the existence of a TRIM31-MAGEA1-NSE4 complex reminiscent of the NSE1-NSE3-NSE4 trimer. (PMID:25590999)
• Study reports that TRIM31 plays a critical role in the formation of autolysosomes in Atg5-/-or Atg7-/- cells, thus promoting elimination of invading bacteria through an Atg5- or Atg7-independent alternative pathway in the intestinal cells. (PMID:27216961)
• TRIM31 gene expression is regulated by miR-551b in ovarian cancer. (PMID:27743201)
• feedback suppressor of NLRP3 inflammasome activity (PMID:27929086)
• TRIM31 could promote hepatocellular carcinoma progression by targeting TSC1-TSC2 complex for degradation and further overactivating mTORC1 pathway. (PMID:28967907)
• that TRIM31 promoted anoikis-resistance by targeting p53 for degradation and subsequently overactivating AMPK pathway (PMID:29665353)
• knockdown of TRIM31 reduced the expression of MMP2, MMP9 and phospho-Akt. (PMID:29864908)
• TRIM31 upregulated the levels of nuclear p65 by promoting K63-linked polyubiquitination of tumor necrosis factor receptor-associated factor 2 (TRAF2) and sustained the activation of nuclear transcription factor kappa B (NF-kappaB) in pancreatic cancer cells. (PMID:29930725)
• MicroRNA29c3p acts as a tumor suppressor gene and inhibits tumor progression in hepatocellular carcinoma by targeting TRIM31. (PMID:32020206)
• TRIM31 promotes acute myeloid leukemia progression and sensitivity to daunorubicin through the Wnt/beta-catenin signaling. (PMID:32232394)
• co-treatment with LPS and ATP increased the secretion of IL-1beta and expression of NLRP3 in human periodontal ligament fibroblasts, while TRIM31 overexpression could reverse these effects caused by LPS and ATP (PMID:32323100)
• TRIM31 inhibits NLRP3 inflammasome and pyroptosis of retinal pigment epithelial cells through ubiquitination of NLRP3. (PMID:32716108)
• TRIM31 promotes apoptosis via TAK1-mediated activation of NF-kappaB signaling in sepsis-induced myocardial dysfunction. (PMID:33016203)
• Nasopharyngeal carcinoma MHC region deep sequencing identifies HLA and novel non-HLA TRIM31 and TRIM39 loci. (PMID:33311639)
• [Effect of TRIM31 Gene Silencing on the Proliferation and Apoptosis of U266 Cells and Its Mechanism]. (PMID:34105476)
• Loss of TRIM31 promotes breast cancer progression through regulating K48- and K63-linked ubiquitination of p53. (PMID:34650049)
• Tripartite motif-containing protein 31 confers protection against nonalcoholic steatohepatitis by deactivating mitogen-activated protein kinase kinase kinase 7. (PMID:35429173)
• Exosomal microRNA-551b-3p from bone marrow-derived mesenchymal stromal cells inhibits breast cancer progression via regulating TRIM31/Akt signaling. (PMID:35941326)
• Increased TRIM31 gene expression is positively correlated with SARS-CoV-2 associated genes TMPRSS2 and TMPRSS4 in gastrointestinal cancers. (PMID:35970857)
• CircNFIX knockdown inhibited AML tumorigenicity by the miR-876-3p/TRIM31 axis. (PMID:36094501)
• TRIM31 promotes the progression of oral squamous cell carcinoma through upregulating AKT phosphorylation and subsequent cellular glycolysis. (PMID:37498068)
• An investigation of the molecular characterization of the tripartite motif (TRIM) family and primary validation of TRIM31 in gastric cancer. (PMID:38978046)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Trim31	ENSMUSG00000058063
rattus_norvegicus	Trim31	ENSRNOG00000021518

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 TRIM31 — Q9BZY9 (reviewed: Q9BZY9)

Alternative names: Tripartite motif-containing protein 31

All UniProt accessions (2): Q9BZY9, Q2L6J1

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that acts as a regulator of antiviral immune response and inflammation by mediating ubiquitination of substrates. Acts as a regulator of innate immune defense against viruses by mediating ‘Lys-63’-linked ubiquitination of MAVS, promoting MAVS polymerization and formation of three-stranded helical filaments on mitochondria. Acts as a negative regulator of the NLRP3 inflammasome by catalyzing ‘Lys-48’-linked ubiquitination of NLRP3, leading to its degradation. Regulator of Src-induced anchorage independent cell growth.

Subunit / interactions. May form oligomers. Interacts with isoform p52shc of SHC1.

Subcellular location. Cytoplasm. Mitochondrion.

Tissue specificity. Up-regulated in gastric adenocarcinomas.

Post-translational modifications. Auto-ubiquitinated (in vitro).

Pathway. Protein modification; protein ubiquitination.

Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9BZY9-1	Alpha	yes
Q9BZY9-2	Beta

RefSeq proteins (1): NP_008959* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR020457	Znf_B-box_chordata	Domain
IPR050143	TRIM/RBCC	Family

Pfam: PF00643, PF15227

UniProt features (30 total): sequence variant 5, binding site 4, sequence conflict 4, mutagenesis site 3, strand 3, zinc finger region 2, splice variant 2, coiled-coil region 2, chain 1, turn 1, helix 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2YSJ	SOLUTION NMR
2YSL	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BZY9-F1	79.55	0.61

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): 123; 95; 98; 117

Mutagenesis-validated functional residues (3):

Position	Phenotype
16	abolished e3 ubiquitin-protein ligase activity and ability to ubiquitinate nlrp3; when associated with a-31.
31	abolished e3 ubiquitin-protein ligase activity and ability to ubiquitinate nlrp3; when associated with a-16.
53–56	abolished e3 ubiquitin-protein ligase activity and ability to ubiquitinate mavs.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-877300	Interferon gamma signaling

MSigDB gene sets: 140 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, MULLIGHAN_NPM1_SIGNATURE_3_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_NEGATIVE_REGULATION_OF_VIRAL_PROCESS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_MODULATION_OF_PROCESS_OF_ANOTHER_ORGANISM, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, CEBALLOS_TARGETS_OF_TP53_AND_MYC_DN

GO Biological Process (15): ubiquitin-dependent protein catabolic process (GO:0006511), inflammatory response (GO:0006954), viral release from host cell (GO:0019076), negative regulation of viral transcription (GO:0032897), innate immune response (GO:0045087), host-mediated suppression of symbiont invasion (GO:0046597), defense response to virus (GO:0051607), protein K63-linked ubiquitination (GO:0070534), protein K48-linked ubiquitination (GO:0070936), antiviral innate immune response (GO:0140374), negative regulation of NLRP3 inflammasome complex assembly (GO:1900226), immune system process (GO:0002376), protein ubiquitination (GO:0016567), NLRP3 inflammasome complex assembly (GO:0044546), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (6): transcription coactivator activity (GO:0003713), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interferon Signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
defense response	2
innate immune response	2
protein polyubiquitination	2
cellular anatomical structure	2
cytoplasm	2
protein ubiquitination	1
modification-dependent protein catabolic process	1
viral process	1
viral life cycle	1
exit from host cell	1
viral transcription	1
regulation of viral transcription	1
negative regulation of viral process	1
immune response	1
defense response to symbiont	1
host-mediated perturbation of symbiont process	1
response to virus	1
defense response to virus	1
negative regulation of protein-containing complex assembly	1
NLRP3 inflammasome complex assembly	1
negative regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
biological_process	1
protein modification by small protein conjugation	1
canonical inflammasome complex assembly	1
DNA-templated transcription	1
regulation of DNA-templated transcription	1
positive regulation of RNA biosynthetic process	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
binding	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM31	TRAT1	Q6PIZ9	817
TRIM31	TMLHE	Q9NVH6	755
TRIM31	HLA-F	P30511	742
TRIM31	BBOX1	O75936	717
TRIM31	MAGEA1	P43355	688
TRIM31	RNF20	Q5VTR2	680
TRIM31	MARCHF7	Q9H992	651
TRIM31	MAVS	Q7Z434	647
TRIM31	TAX1BP1	Q86VP1	608
TRIM31	FBXL2	Q9UKC9	578
TRIM31	HLA-A	P01891	562
TRIM31	TRIM14	Q14142	541
TRIM31	TRIM29	Q14134	527
TRIM31	TRIM56	Q9BRZ2	522
TRIM31	ARIH2	O95376	518

IntAct

32 interactions, top by confidence:

A	B	Type	Score
UBE2K	TRIM31	psi-mi:“MI:0915”(physical association)	0.720
TRIM31	UBE2K	psi-mi:“MI:0915”(physical association)	0.720
TRIM31	MAGEA1	psi-mi:“MI:0915”(physical association)	0.670
MAGEA1	TRIM31	psi-mi:“MI:0915”(physical association)	0.670
CCT6A	TRIM31	psi-mi:“MI:0915”(physical association)	0.560
TRIM31	PYGM	psi-mi:“MI:0915”(physical association)	0.400
TRIM31	HIP2	psi-mi:“MI:0915”(physical association)	0.370
UBE2D1	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
TRIM31	UBE2D2	psi-mi:“MI:0915”(physical association)	0.370
UBE2D3	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
UBE2D4	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
UBE2W	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
IKBKG	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
TRIM31	ZSCAN1	psi-mi:“MI:0915”(physical association)	0.370
TRIM31	MNAT1	psi-mi:“MI:0915”(physical association)	0.370
TRIM27	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
MKRN3	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
TRAF2	TRIM31	psi-mi:“MI:0915”(physical association)	0.370
UBE2K	TRIM31	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (515): TRIM31 (Two-hybrid), MAGEA2B (Two-hybrid), TRIM31 (Two-hybrid), TRIM31 (Two-hybrid), TRIM31 (Two-hybrid), TRIM31 (Affinity Capture-Western), TRIM31 (Affinity Capture-Western), NSMCE4A (Affinity Capture-Western), MAGEA1 (Affinity Capture-Western), NSMCE4A (Reconstituted Complex), EID3 (Reconstituted Complex), MAVS (Affinity Capture-Western), TRIM31 (Affinity Capture-Western), NLRP3 (Reconstituted Complex), TRIM31 (Affinity Capture-Western)

ESM2 similar proteins: A0A386CAB9, A6NLU0, A9CBA2, D4ABM4, F8RKW2, F8S122, F8VTS6, O15553, O43908, O75677, O75678, P35125, P82885, P83234, P83743, Q01151, Q07444, Q27J48, Q2XXL4, Q309B1, Q3UWZ0, Q495X7, Q5BK82, Q5DT36, Q640S6, Q6PGR9, Q6X5S2, Q6X5S6, Q6ZWI9, Q80X56, Q86WT6, Q8BVP1, Q8K243, Q8N7C3, Q8R0K2, Q8VH31, Q8VI40, Q91431, Q92021, Q925N7

Diamond homologs: A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510, Q62556, Q640S6, Q6PGR9, Q6QA27, Q6UX41, Q6UXG8, Q6ZMU5, Q7SZN2, Q7T308, Q7TST0, Q810I1

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM31	ubiquitination
TRIM31	“down-regulates quantity by destabilization”	NLRP3	ubiquitination
TRIM31	“up-regulates activity”	KIF21B	binding

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
Regulation of TNFR1 signaling	5	93.3×	2e-07
Antigen processing: Ubiquitination & Proteasome degradation	6	18.6×	1e-05

GO biological processes:

GO term	Partners	Fold	FDR
protein K48-linked ubiquitination	5	56.2×	1e-06
protein polyubiquitination	6	46.2×	2e-07
ubiquitin-dependent protein catabolic process	5	24.8×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

67 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	6
Benign	5

Top pathogenic / likely-pathogenic (0)

SpliceAI

1191 predictions. Top by Δscore:

Variant	Effect	Δscore
6:30105162:A:AC	donor_gain	1.0000
6:30105163:C:CC	donor_gain	1.0000
6:30105167:CAG:C	donor_gain	1.0000
6:30105167:CAGCT:C	donor_gain	1.0000
6:30110445:CA:C	donor_loss	1.0000
6:30110446:A:AC	donor_gain	1.0000
6:30110446:ACCT:A	donor_gain	1.0000
6:30110447:C:A	donor_loss	1.0000
6:30110447:C:CC	donor_gain	1.0000
6:30110447:CCT:C	donor_gain	1.0000
6:30110447:CCTC:C	donor_gain	1.0000
6:30112384:CCTA:C	donor_loss	1.0000
6:30112385:CTAC:C	donor_loss	1.0000
6:30103789:CCTT:C	acceptor_gain	0.9900
6:30103792:T:C	acceptor_gain	0.9900
6:30103792:T:TC	acceptor_gain	0.9900
6:30103796:G:T	acceptor_gain	0.9900
6:30105166:A:AC	donor_gain	0.9900
6:30105167:C:CC	donor_gain	0.9900
6:30110675:GGTC:G	acceptor_gain	0.9900
6:30110676:GTC:G	acceptor_gain	0.9900
6:30110677:TC:T	acceptor_gain	0.9900
6:30110678:CC:C	acceptor_gain	0.9900
6:30110679:C:CC	acceptor_gain	0.9900
6:30110679:CTA:C	acceptor_loss	0.9900
6:30112387:A:AC	donor_gain	0.9900
6:30112388:C:CC	donor_gain	0.9900
6:30103795:C:CT	acceptor_gain	0.9800
6:30108213:G:C	acceptor_gain	0.9800
6:30110446:ACCTC:A	donor_gain	0.9800

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000056229 (6:30114386 G>A), RS1000968488 (6:30109589 T>C), RS1002050978 (6:30103292 G>C,T), RS1002200034 (6:30108882 C>T), RS1002244799 (6:30102732 TAAGAC>T), RS1002286891 (6:30109682 A>T), RS1002314135 (6:30102849 A>G), RS1002687642 (6:30106269 C>T), RS1002692055 (6:30112099 A>C), RS1002913602 (6:30112317 G>A), RS1002946748 (6:30112526 T>C), RS1002972136 (6:30112342 A>T), RS1003128780 (6:30106406 C>G,T), RS1003248319 (6:30110950 T>A), RS1003262204 (6:30106439 C>G)

Disease associations

OMIM: gene MIM:609316 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

38 associations (top):

Study	Trait	p-value
GCST001863_7	Beta-2 microglubulin plasma levels	3.000000e-15
GCST002324_6	Anger	8.000000e-07
GCST002606_12	Prostate cancer	2.000000e-08
GCST002606_31	Prostate cancer	1.000000e-07
GCST002876_1	Type 1 diabetes and autoimmune thyroid diseases	2.000000e-08
GCST004521_12	Autism spectrum disorder or schizophrenia	2.000000e-12
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_51	Autism spectrum disorder or schizophrenia	9.000000e-14
GCST004521_56	Autism spectrum disorder or schizophrenia	1.000000e-22
GCST004521_58	Autism spectrum disorder or schizophrenia	1.000000e-17
GCST004521_70	Autism spectrum disorder or schizophrenia	8.000000e-20
GCST004521_79	Autism spectrum disorder or schizophrenia	1.000000e-16
GCST004630_86	Mean corpuscular hemoglobin	2.000000e-09
GCST004649_1	Isovolumetric relaxation time	7.000000e-07
GCST005232_23	Neuroticism	8.000000e-09
GCST008746_13	Estimated glomerular filtration rate in diabetes	4.000000e-12
GCST010204_195	Low density lipoprotein cholesterol levels	4.000000e-18
GCST010241_186	Apolipoprotein A1 levels	7.000000e-28
GCST010242_301	HDL cholesterol levels	4.000000e-24
GCST011426_12	Systemic lupus erythematosus	3.000000e-06
GCST011766_15	Chronic obstructive pulmonary disease	1.000000e-10

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0005197	beta-2 microglobulin measurement
EFO:0003015	aggressive behavior
EFO:0004527	mean corpuscular hemoglobin
EFO:0008204	left ventricular diastolic function measurement
EFO:0007660	neuroticism measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007986	reticulocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

44 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	4
Air Pollutants	decreases expression, increases abundance, increases expression	2
Arsenic	affects methylation, decreases methylation, increases abundance	2
Benzo(a)pyrene	increases methylation, decreases methylation, increases expression	2
Tretinoin	increases expression	2
aminomethylphosphonic acid (AMPA)	affects methylation, increases abundance	1
methyleugenol	increases expression	1
propionaldehyde	increases expression	1
sodium arsenate	decreases expression	1
perfluorooctanoic acid	increases expression	1
cupric chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
octa-2,4,6-trienoic acid	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
nutlin 3	affects cotreatment, increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, increases expression	1
3-hydroxy-4-prenyl-5-methoxystilbene-2-carboxylic acid	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Capecitabine	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Acetaminophen	decreases expression	1
Glyphosate	affects methylation, increases abundance	1
Camptothecin	increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dactinomycin	affects cotreatment, increases expression	1
Ethyl Methanesulfonate	decreases expression	1
Lipopolysaccharides	increases expression, affects response to substance	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.