TRIM7

tripartite motif containing 7, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 5:181193924-181205293

Links

ENSG00000146054 ∙ NCBI:81786 ∙ OMIM:609315 ∙ HGNC:16278 ∙ Uniprot:Q9C029 ∙ 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 TRIM7 gene.

• not_specified (82 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000203293.3. 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						0
missense			81	1		82
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	81	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM7	protein_coding	protein_coding	ENST00000274773	7	11370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0268	0.971	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.671	231	262	0.883	0.0000167	3166
Missense in Polyphen		107	119.21	0.89755		1268
Synonymous	0.321	116	120	0.963	0.00000786	1081
Loss of Function	2.68	6	18.4	0.326	8.70e-7	221

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000351	0.000337
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000811	0.0000791
Middle Eastern	0.000111	0.000109
South Asian	0.000209	0.000196
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase. Mediates 'Lys-63'-linked polyubiquitination and stabilization of the JUN coactivator RNF187 in response to growth factor signaling via the MEK/ERK pathway, thereby regulating JUN transactivation and cellular proliferation. {ECO:0000269|PubMed:25851810}.

Recessive Scores

• pRec: 0.110

Haploinsufficiency Scores

• pHI: 0.110
• hipred: N
• hipred_score: 0.366
• ghis: 0.410

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.946

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim7

Gene ontology

• Biological process: protein ubiquitination
• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding;zinc ion binding;transferase activity