TRIM35

protein-coding

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

Gene summary

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 function of this protein has not been identified. [provided by RefSeq, Jul 2008]

MANE transcript

NM_171982.5

Inheritance

—

ClinVar variants

U:95B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr8:27,284,886-27,311,272

External References & Databases

Ensembl (ENSG00000104228)

Transcript & Mutation Effects

hg38 • Region Span ~26.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TRIM35 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 89

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_171982.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense			91 clinvar			91
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	95	0	2	97

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 17 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_171982.5	RefSeq	NP_741983.2	6	MANE Select
ENST00000305364.9	Ensembl	ENSP00000301924.4	6	MANE Select
NM_001304495.2	RefSeq	NP_001291424.1	4	Standard
NM_001362813.2	RefSeq	NP_001349742.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Interactome of polycomb repressive complex 2 (PRC2)
Cytokine Signaling in Immune system
Immune System
Interferon gamma signaling
Interferon Signaling

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

Molecular Function

molecular_function
zinc ion binding

Cellular Component

nucleus
cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000305364
Coding exons: 6
Length: 26433
Individuals with no LoFs: 125702
Homozygous LoFs: 0
Heterozygous LoFs: 46
Defined: 125748
p: 0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.740	295	333	0.886	0.0000213	3173
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00043	0.00043	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0.00092	0.00089	rare
East Asian	0.00027	0.00027	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.00016	0.00016	rare
South Asian	0.000033	0.000033	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.115

Intolerance Scores

LoFtool: 0.598
RVIS EVS: -0.42
RVIS percentile EVS: 25.79

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.720

Gene Damage Prediction

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