JRK

Jrk helix-turn-helix protein, the group of Helix-turn-helix CENPB type domain containing|DNA transposon derived genes

Basic information

Region (hg38): 8:142657459-142681968

Links

ENSG00000234616 ∙ NCBI:8629 ∙ OMIM:603210 ∙ HGNC:6199 ∙ Uniprot:O75564 ∙ 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 JRK gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the JRK 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				9	6	15
missense			6	4	3	13
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	7	13	11

Variants in JRK

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

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

Position	Type	Phenotype	Significance	ClinVar
8-142664501-C-A		not specified	Likely benign (Aug 16, 2021)
8-142664532-C-T			Benign/Likely benign (Jan 01, 2023)
8-142664551-C-T			Benign (Dec 31, 2019)
8-142664633-T-C			Benign (Dec 31, 2019)
8-142664634-G-A			Likely benign (Jan 04, 2024)
8-142664652-C-T			Benign (Dec 31, 2019)
8-142664676-AA-AA			Benign (Dec 31, 2019)
8-142664692-G-A			Likely benign (Aug 01, 2023)
8-142664706-C-A			Likely benign (May 01, 2023)
8-142664708-G-A		not specified	Uncertain significance (Mar 28, 2024)
8-142664709-T-G			Likely benign (May 01, 2023)
8-142664735-C-A		not specified	Uncertain significance (Mar 20, 2024)
8-142664761-C-T		not specified	Uncertain significance (Sep 16, 2021)
8-142664767-T-C		not specified	Likely benign (Apr 01, 2022)
8-142664773-G-A		not specified	Uncertain significance (Oct 25, 2022)
8-142664808-G-A			Likely benign (Aug 01, 2023)
8-142664818-G-C		not specified	Uncertain significance (May 15, 2024)
8-142664882-C-T		not specified	Uncertain significance (Feb 03, 2023)
8-142664953-G-A		not specified	Uncertain significance (Jun 24, 2022)
8-142664963-C-T		not specified	Likely benign (Feb 17, 2022)
8-142664997-G-A			Benign (Dec 31, 2019)
8-142665282-G-A			Benign (Dec 31, 2019)
8-142665282-G-G			Benign (Feb 21, 2019)
8-142665522-G-A			Likely benign (Aug 01, 2023)
8-142665573-C-G			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May bind DNA. {ECO:0000250}.

Essentials

• gene_indispensability_pred: E
• gene_indispensability_score: 0.783

Mouse Genome Informatics

• Gene name: Jrk

Gene ontology

• Biological process: positive regulation of canonical Wnt signaling pathway
• Cellular component: cellular_component;nucleus;cytoplasm;ribonucleoprotein complex
• Molecular function: DNA binding;mRNA binding;protein binding