TRIM6-TRIM34

protein-coding

TRIM6-TRIM34 readthrough

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. This gene represents a readthrough transcript from genes TRIM6 and TRIM34, and it was described as a splice variant of TRIM34. This gene is mapped to chromosome 11p15, where it resides within a TRIM gene cluster. [provided by RefSeq, Nov 2009]

MANE transcript

N/A

Inheritance

—

ClinVar variants

U:2B:2

Top phenotype

Inborn genetic diseases

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr11:5,596,725-5,644,398

External References & Databases

Ensembl (ENSG00000258588)

NCBI Gene (445372)

HGNC:33440

GenCC

ClinVar (TRIM6-TRIM34)

Transcript & Mutation Effects

hg38 • Region Span ~47.7 kb

Loading mutation effect viewer...

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 TRIM6-TRIM34 variants in ClinVar

3 Conditions Cataloged

Inborn genetic diseasesTotal: 13

not providedTotal: 3

Malignant tumor of prostateTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript . 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				1 clinvar		1
missense			2 clinvar	1 clinvar		3
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	2	2	0	4

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001003819.4	RefSeq	NP_001003819.1	14	Standard
ENST00000354852.5	Ensembl	ENSP00000346916.5	14	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cytokine Signaling in Immune system
Immune System
Interferon gamma signaling
Interferon Signaling

Molecular Function

zinc ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000354852
Coding exons: 14
Length: 47674
Individuals with no LoFs: 125511
Homozygous LoFs: 0
Heterozygous LoFs: 237
Defined: 125748
p: 0.000943

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.609	481	445	1.08	0.0000229	5517
Missense (PolyPhen)		126	128.12	0.98345		1708
Synonymous	0.739	152	164	0.927	0.00000802	1594
Loss of Function	1.37	34	43.8	0.777	0.00000256	479

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00037	rare
Latino/Admixed American	0.0027	0.0027	notable
Ashkenazi Jewish	0.00060	0.00060	rare
East Asian	0.00087	0.00087	rare
Finnish	0.000092	0.000092	rare
European (Non-Finnish)	0.0011	0.00082	notable
South Asian	0.00053	0.00049	rare
Other	0.0011	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.52
RVIS percentile EVS: 80.36

Essentials

Essential (CRISPR): N
Indispensability pred.: N
Indispensability score: 0.268

Gene Damage Prediction

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