TRIM6-TRIM34

TRIM6-TRIM34 readthrough

Basic information

Region (hg38): 11:5596725-5644398

Links

ENSG00000258588 ∙ NCBI:445372 ∙ ∙ HGNC:33440 ∙ ∙ ∙ 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 TRIM6-TRIM34 gene.

• Inborn genetic diseases (13 variants)
• not provided (3 variants)
• Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM6-TRIM34 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				1		1
missense			2	1		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			12	1		13
Total	0	0	14	3	0

Variants in TRIM6-TRIM34

This is a list of pathogenic ClinVar variants found in the TRIM6-TRIM34 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-5603734-A-G		not specified	Uncertain significance (Jan 26, 2022)
11-5604536-G-T			Likely benign (Jun 18, 2018)
11-5604572-G-A			Likely benign (Jun 18, 2018)
11-5610798-A-G		not specified	Uncertain significance (Sep 27, 2021)
11-5610801-C-T		not specified	Uncertain significance (Jan 03, 2024)
11-5610816-T-C		not specified	Uncertain significance (Dec 16, 2022)
11-5610875-T-C		not specified	Uncertain significance (Sep 26, 2022)
11-5610891-A-G			Likely benign (Mar 01, 2023)
11-5610949-G-C		not specified	Uncertain significance (May 23, 2023)
11-5610976-G-C		not specified	Uncertain significance (May 11, 2022)
11-5611062-A-G		not specified	Uncertain significance (Aug 28, 2023)
11-5611077-A-G		not specified	Uncertain significance (May 23, 2024)
11-5611163-C-T		not specified	Uncertain significance (Mar 12, 2024)
11-5611167-G-A		not specified	Uncertain significance (Sep 01, 2021)
11-5611182-T-C		not specified	Uncertain significance (Apr 04, 2023)
11-5611218-A-C		not specified	Uncertain significance (Oct 04, 2022)
11-5611295-C-A		not specified	Uncertain significance (Aug 12, 2021)
11-5611314-C-G		not specified	Uncertain significance (Feb 17, 2024)
11-5611325-C-T		not specified	Uncertain significance (Aug 30, 2021)
11-5611329-G-A		not specified	Uncertain significance (Nov 17, 2022)
11-5632327-G-A		Malignant tumor of prostate	Uncertain significance (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM6-TRIM34	protein_coding	protein_coding	ENST00000354852	14	47674

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.31e-19	0.135	125511	0	237	125748	0.000943

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.609	481	445	1.08	0.0000229	5517
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00318	0.00306
Ashkenazi Jewish	0.000596	0.000595
East Asian	0.000874	0.000870
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.00113	0.000818
Middle Eastern	0.000874	0.000870
South Asian	0.000525	0.000490
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

• Pathway: Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Intolerance Scores

• rvis_EVS: 0.52
• rvis_percentile_EVS: 80.36

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.132
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.268

Gene Damage Prediction

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

Gene ontology

• Molecular function: zinc ion binding