TRIM14

tripartite motif containing 14, the group of Tripartite motif family

Basic information

Region (hg38): 9:98069275-98119222

Links

ENSG00000106785 ∙ NCBI:9830 ∙ OMIM:606556 ∙ HGNC:16283 ∙ Uniprot:Q14142 ∙ 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 TRIM14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRIM14 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			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	1

Variants in TRIM14

This is a list of pathogenic ClinVar variants found in the TRIM14 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-98076909-T-C			Likely benign (Mar 07, 2023)
9-98076916-A-G			Likely pathogenic (Dec 23, 2022)
9-98076920-G-A		NANS-related disorder	Benign/Likely benign (Feb 01, 2024)
9-98076923-A-G			Likely benign (Aug 09, 2022)
9-98076925-T-G			Uncertain significance (Oct 25, 2021)
9-98076935-G-C			Likely benign (Jun 01, 2018)
9-98076948-G-A			Uncertain significance (Dec 22, 2021)
9-98076953-A-AT		Spondyloepimetaphyseal dysplasia, Genevieve type	Pathogenic (Jun 20, 2017)
9-98076964-T-C			Uncertain significance (Jul 21, 2022)
9-98076967-G-T		Spondyloepimetaphyseal dysplasia, Genevieve type	Pathogenic (Jun 20, 2017)
9-98076979-C-T			Uncertain significance (Aug 08, 2022)
9-98077018-G-A		Spondyloepimetaphyseal dysplasia, Genevieve type	Pathogenic (Jan 20, 2020)
9-98077034-T-A			Likely benign (Aug 22, 2022)
9-98078183-GATTAC-ATGG		Spondyloepimetaphyseal dysplasia, Genevieve type	Likely pathogenic (Sep 01, 2023)
9-98078183-GATTAC-G			Pathogenic (May 01, 2019)
9-98078184-A-C			Likely benign (Jan 08, 2024)
9-98078187-A-G			Likely benign (Sep 01, 2023)
9-98078195-C-T			Uncertain significance (Aug 09, 2022)
9-98078196-G-A		Spondyloepimetaphyseal dysplasia, Genevieve type • not specified	Uncertain significance (Mar 13, 2022)
9-98078196-G-T		Inborn genetic diseases	Conflicting classifications of pathogenicity (Jul 19, 2022)
9-98078201-A-G		Inborn genetic diseases	Uncertain significance (Nov 18, 2022)
9-98078208-T-C			Uncertain significance (Jul 10, 2023)
9-98078220-T-G		Spondyloepimetaphyseal dysplasia, Genevieve type	Likely pathogenic (-)
9-98078228-A-G			Uncertain significance (Mar 21, 2022)
9-98078236-C-G			Likely benign (Jul 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIM14	protein_coding	protein_coding	ENST00000341469	6	49938

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00452	0.967	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.817	121	149	0.812	0.00000773	1713
Missense in Polyphen		13	22.113	0.58788		290
Synonymous	0.214	65	67.2	0.967	0.00000410	507
Loss of Function	1.92	6	13.7	0.439	6.66e-7	153

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000810	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the innate immune defense against viruses. Facilitates the type I IFN response by interacting with MAVS at the outer mitochondria membrane and thereby recruiting NF- kappa-B essential modulator IKBKG/NEMO to the MAVS signalosome, leading to the activation of both the IFN regulatory factor 3/IRF3 and NF-kappa-B pathways (PubMed:24379373). Positively regulates the CGAS-induced type I interferon signaling pathway by stabilizing CGAS and inhibiting its autophagic degradation (PubMed:27666593). {ECO:0000269|PubMed:24379373, ECO:0000269|PubMed:27666593, ECO:0000269|PubMed:29053956}.
• Pathway: Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling (Consensus)

Haploinsufficiency Scores

• pHI: 0.468
• hipred: N
• hipred_score: 0.307
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.771

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Trim14

Gene ontology

• Biological process: negative regulation of viral transcription;innate immune response;positive regulation of DNA-binding transcription factor activity;positive regulation of NF-kappaB transcription factor activity
• Cellular component: mitochondrial outer membrane
• Molecular function: molecular_function;zinc ion binding