TRIM35

tripartite motif containing 35, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 8:27284886-27311272

Links

ENSG00000104228 ∙ NCBI:23087 ∙ OMIM:617007 ∙ HGNC:16285 ∙ Uniprot:Q9UPQ4 ∙ 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 TRIM35 gene.

• not_specified (79 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000171982.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					2	2
missense			79			79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	79	0	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM35	protein_coding	protein_coding	ENST00000305364	6	26433

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000878	0.996	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.740	295	333	0.886	0.0000213	3173
Missense in Polyphen		80	96.311	0.83065		1029
Synonymous	-0.935	155	141	1.10	0.00000940	978
Loss of Function	2.63	9	22.4	0.401	0.00000114	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000518	0.000518
Ashkenazi Jewish	0.000920	0.000893
East Asian	0.000272	0.000272
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000162	0.000158
Middle Eastern	0.000272	0.000272
South Asian	0.0000327	0.0000327
Other	0.000172	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Reduces FGFR1-dependent tyrosine phosphorylation of PKM, inhibiting PKM-dependent lactate production, glucose metabolism, and cell growth (PubMed:25263439). Involved in the cell death mechanism (By similarity). {ECO:0000250|UniProtKB:Q8C006, ECO:0000269|PubMed:25263439}.
• Pathway: Interactome of polycomb repressive complex 2 (PRC2);Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.598
• rvis_EVS: -0.42
• rvis_percentile_EVS: 25.79

Haploinsufficiency Scores

• pHI: 0.0901
• hipred: N
• hipred_score: 0.312
• ghis: 0.502

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.720

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim35

Gene ontology

• Biological process: apoptotic process;positive regulation of apoptotic process;innate immune response;negative regulation of mitotic cell cycle;negative regulation of viral release from host cell
• Cellular component: nucleus;cytoplasm
• Molecular function: molecular_function;zinc ion binding