TRIM17

tripartite motif containing 17, the group of Tripartite motif family|Ring finger proteins

Basic information

Region (hg38): 1:228407935-228416861

Previous symbols: [ "RNF16" ]

Links

ENSG00000162931 ∙ NCBI:51127 ∙ OMIM:606123 ∙ HGNC:13430 ∙ Uniprot:Q9Y577 ∙ 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 TRIM17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM17 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				2	1	3
missense			22	4	4	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	6	5

Variants in TRIM17

This is a list of pathogenic ClinVar variants found in the TRIM17 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-228408244-C-T		not specified	Uncertain significance (May 15, 2024)
1-228408335-C-A		not specified	Uncertain significance (Jul 09, 2021)
1-228408337-C-A		not specified	Uncertain significance (Dec 09, 2023)
1-228408351-T-A		not specified	Uncertain significance (Apr 14, 2022)
1-228408396-C-G		not specified	Uncertain significance (Jun 17, 2022)
1-228408400-A-C		not specified	Uncertain significance (Dec 03, 2021)
1-228408421-G-A		not specified	Uncertain significance (Jan 23, 2024)
1-228408434-A-G		not specified	Likely benign (Jun 27, 2022)
1-228408695-G-A		not specified	Uncertain significance (Sep 29, 2023)
1-228408706-A-G		not specified	Uncertain significance (Aug 08, 2022)
1-228409035-A-G			Likely benign (Nov 01, 2022)
1-228409187-G-T		not specified	Uncertain significance (May 05, 2023)
1-228409195-A-G		not specified	Uncertain significance (Sep 16, 2021)
1-228409199-G-C		not specified	Uncertain significance (Apr 08, 2024)
1-228409211-T-C		not specified	Uncertain significance (Oct 17, 2023)
1-228409235-G-C		not specified	Uncertain significance (Oct 26, 2021)
1-228409265-C-T		not specified	Uncertain significance (May 20, 2024)
1-228410977-C-T		not specified	Uncertain significance (Jan 17, 2024)
1-228411022-C-T		not specified	Likely benign (Jul 31, 2023)
1-228411023-G-A		not specified	Uncertain significance (Dec 21, 2022)
1-228411080-C-T		not specified	Likely benign (Nov 14, 2023)
1-228411160-C-T		not specified	Uncertain significance (Mar 30, 2024)
1-228413805-C-T			Benign (Oct 19, 2017)
1-228413861-C-T		not specified	Uncertain significance (Dec 21, 2023)
1-228413878-C-A		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM17	protein_coding	protein_coding	ENST00000366697	6	8922

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.31e-8	0.741	125578	1	169	125748	0.000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.574	260	287	0.905	0.0000171	3109
Missense in Polyphen		75	97.424	0.76983		1110
Synonymous	-0.510	130	123	1.06	0.00000771	947
Loss of Function	1.33	14	20.5	0.683	0.00000101	227

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000803	0.000796
Ashkenazi Jewish	0.000112	0.0000992
East Asian	0.00218	0.00212
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.000599	0.000589
Middle Eastern	0.00218	0.00212
South Asian	0.00147	0.00147
Other	0.000333	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a ubiquitin E3 ligase. {ECO:0000269|PubMed:19358823}.
• Pathway: Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.184

Intolerance Scores

• loftool: 0.927
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.66

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.303
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.837

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim17

Gene ontology

• Biological process: autophagy;regulation of protein localization;protein autoubiquitination
• Cellular component: cellular_component
• Molecular function: ubiquitin-protein transferase activity;protein binding;zinc ion binding;protein binding, bridging