TRIM47

tripartite motif containing 47, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 17:75874164-75878581

Links

ENSG00000132481 ∙ NCBI:91107 ∙ OMIM:611041 ∙ HGNC:19020 ∙ Uniprot:Q96LD4 ∙ 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 TRIM47 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM47 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			47	1		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	47	2	0

Variants in TRIM47

This is a list of pathogenic ClinVar variants found in the TRIM47 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-75874502-G-T		not specified	Uncertain significance (Jul 09, 2024)
17-75874543-G-T		not specified	Uncertain significance (Apr 08, 2024)
17-75874658-C-T		not specified	Uncertain significance (Aug 26, 2022)
17-75874664-C-T		not specified	Uncertain significance (Aug 15, 2023)
17-75874683-G-A		not specified	Uncertain significance (Jan 02, 2024)
17-75874701-C-G		not specified	Uncertain significance (Jan 23, 2023)
17-75874704-C-T		not specified	Uncertain significance (Jan 12, 2024)
17-75874737-C-T		not specified	Uncertain significance (Mar 17, 2023)
17-75874760-G-A		not specified	Uncertain significance (Dec 10, 2024)
17-75874821-G-A		not specified	Uncertain significance (Nov 15, 2021)
17-75874825-A-T		not specified	Uncertain significance (Jun 28, 2023)
17-75874838-C-T		not specified	Uncertain significance (Jan 30, 2024)
17-75874856-C-T		not specified	Uncertain significance (Dec 21, 2022)
17-75874902-C-T		not specified	Uncertain significance (Jan 17, 2023)
17-75875010-G-A		not specified	Uncertain significance (Jan 29, 2024)
17-75875015-G-A		not specified	Uncertain significance (Aug 14, 2024)
17-75875040-A-G		not specified	Uncertain significance (Nov 21, 2024)
17-75875097-C-T		not specified	Uncertain significance (Mar 24, 2023)
17-75875423-G-A		not specified	Uncertain significance (Oct 29, 2021)
17-75875451-C-T		not specified	Uncertain significance (Nov 21, 2023)
17-75875942-G-A		not specified	Likely benign (Mar 15, 2024)
17-75875963-T-C		not specified	Uncertain significance (Sep 24, 2024)
17-75875979-C-T		not specified	Uncertain significance (May 02, 2023)
17-75875997-C-T		not specified	Uncertain significance (Jul 28, 2021)
17-75876090-C-A		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM47	protein_coding	protein_coding	ENST00000254816	6	4415

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000337	0.989	125691	0	48	125739	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.572	284	312	0.909	0.0000192	4023
Missense in Polyphen		119	136.95	0.86892		1647
Synonymous	2.00	107	137	0.782	0.00000844	1380
Loss of Function	2.26	9	19.9	0.453	0.00000103	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000273	0.000268
Ashkenazi Jewish	0.00100	0.000993
East Asian	0.000824	0.000816
Finnish	0.00	0.00
European (Non-Finnish)	0.000108	0.000106
Middle Eastern	0.000824	0.000816
South Asian	0.000102	0.0000980
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD. {ECO:0000269|PubMed:29291351}.

Recessive Scores

• pRec: 0.155

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.613
• ghis: 0.581

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.879

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim47

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: nucleus;cytosol
• Molecular function: ubiquitin-protein transferase activity;zinc ion binding;ligase activity