JRK

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

Basic information

Region (hg38): 8:142657460-142681968

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.

not_specified (23 variants)
not_provided (14 variants)

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. These statistics are base on transcript: NM_000003724.4. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				10 clinvar	1 clinvar	11
missense			19 clinvar	6 clinvar		25
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	20	16	1

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: E
gene_indispensability_score: 0.783

Mouse Genome Informatics

Gene name: Jrk
Phenotype

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