TRIM31

tripartite motif containing 31, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 6:30102896-30113090

Links

ENSG00000204616 ∙ NCBI:11074 ∙ OMIM:609316 ∙ HGNC:16289 ∙ Uniprot:Q9BZY9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TRIM31 gene.

• Inborn genetic diseases (17 variants)
• not provided (15 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM31 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2	1	3
missense			13	2	7	22
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	5	8

Variants in TRIM31

This is a list of pathogenic ClinVar variants found in the TRIM31 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
6-30103586-C-A			Likely benign (Jul 17, 2018)
6-30103618-G-A		not specified	Uncertain significance (Aug 28, 2023)
6-30103766-G-C		not specified	Uncertain significance (Jun 22, 2023)
6-30103770-C-T			Benign (Jun 28, 2018)
6-30103785-G-T			Likely benign (Aug 01, 2022)
6-30104104-G-A		not specified	Uncertain significance (Oct 10, 2023)
6-30105176-A-G		not specified	Uncertain significance (Aug 02, 2021)
6-30105203-A-T		not specified	Uncertain significance (Aug 08, 2022)
6-30108131-G-A		not specified	Uncertain significance (Oct 27, 2022)
6-30108167-T-C		not specified	Uncertain significance (Dec 28, 2022)
6-30109036-C-T		not specified	Uncertain significance (May 16, 2023)
6-30110458-T-C			Benign (Apr 16, 2018)
6-30110458-T-G		not specified	Uncertain significance (Dec 09, 2023)
6-30110485-T-C			Likely benign (May 21, 2018)
6-30110488-A-G			Benign (May 21, 2018)
6-30110554-G-A		not specified	Uncertain significance (Mar 07, 2024)
6-30110561-T-C		not specified	Likely benign (Dec 28, 2022)
6-30110581-T-G		not specified	Uncertain significance (Jul 06, 2021)
6-30110597-G-T		not specified	Uncertain significance (Oct 28, 2023)
6-30110633-G-A		not specified	Conflicting classifications of pathogenicity (Dec 11, 2023)
6-30110667-T-G		not specified	Conflicting classifications of pathogenicity (Dec 11, 2023)
6-30111715-A-G		not specified	Uncertain significance (Jul 20, 2021)
6-30111718-A-G		not specified	Uncertain significance (Jan 10, 2023)
6-30112425-A-T		not specified	Uncertain significance (Feb 05, 2024)
6-30112427-T-C			Benign (May 21, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM31	protein_coding	protein_coding	ENST00000376734	8	10210

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000432	0.850	125700	1	47	125748	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.346	205	219	0.934	0.0000110	2806
Missense in Polyphen		36	37.567	0.95829		546
Synonymous	1.41	75	92.2	0.813	0.00000508	782
Loss of Function	1.43	11	17.5	0.630	7.38e-7	217

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000463	0.000463
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000818	0.0000791
Middle Eastern	0.0000547	0.0000544
South Asian	0.000767	0.000686
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulator of Src-induced anchorage independent cell growth (By similarity). May have E3 ubiquitin-protein ligase activity. {ECO:0000250, ECO:0000269|PubMed:18773414}.
• Pathway: Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Intolerance Scores

• loftool: 0.561
• rvis_EVS: 2.98
• rvis_percentile_EVS: 99.2

Haploinsufficiency Scores

• pHI: 0.0543
• hipred: N
• hipred_score: 0.179

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.787

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Trim31

Gene ontology

• Biological process: protein ubiquitination;negative regulation of viral transcription;innate immune response;negative regulation of viral entry into host cell;positive regulation of DNA-binding transcription factor activity;interferon-gamma-mediated signaling pathway;regulation of viral release from host cell
• Cellular component: mitochondrion;cytosol
• Molecular function: protein binding;zinc ion binding;transferase activity