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.

• not_specified (110 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_000033452.3. 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				1		1
missense			107	3		110
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	107	4	0

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