TRIQK

triple QxxK/R motif containing

Basic information

Region (hg38): 8:92883532-93017673

Previous symbols: [ "C8orf83" ]

Links

ENSG00000205133 ∙ NCBI:286144 ∙ ∙ HGNC:27828 ∙ Uniprot:Q629K1 ∙ 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 TRIQK gene.

Variants pathogenicity by type

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

Variants in TRIQK

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

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

Position	Type	Phenotype	Significance	ClinVar
8-92886648-G-C		not specified	Uncertain significance (Sep 25, 2023)
8-92886662-G-A		not specified	Uncertain significance (Apr 13, 2022)
8-92886731-A-G		not specified	Uncertain significance (Aug 02, 2021)
8-92892021-C-T		not specified	Uncertain significance (Jun 05, 2024)
8-92892051-T-G		not specified	Uncertain significance (Feb 13, 2024)
8-92892074-C-T		not specified	Uncertain significance (Jun 24, 2022)
8-92916971-C-G		not specified	Uncertain significance (May 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TRIQK	protein_coding	protein_coding	ENST00000521988	3	134144

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00995	0.620	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.191	31	34.1	0.908	0.00000159	546
Missense in Polyphen		10	12.2	0.81969		196
Synonymous	-0.157	13	12.3	1.06	6.00e-7	170
Loss of Function	0.351	3	3.73	0.804	2.42e-7	55

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in cell growth and maintenance of cell morphology. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.04

Haploinsufficiency Scores

• ghis: 0.550

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Triqk

Gene ontology

• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane