• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
RIPK4 (HGNC:496) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
receptor interacting serine/threonine kinase 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
ANKRD3
Alias symbols
DIK, ANKK2, RIP4, PKK
%HI
43.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.59(Read more about gnomAD LOEUF score)
Cytoband
21q22.3
Genomic Coordinates
GRCh37/hg19: chr21:43159533-43187212 NCBI Ensembl UCSC
GRCh38/hg38: chr21:41739373-41767052 NCBI Ensembl UCSC
MANE Select Transcript
NM_020639.3 ENST00000332512.8 (Read more about MANE Select)
Function
Involved in stratified epithelial development. It is a direct transcriptional target of TP63. Plays a role in NF-kappa-B activation. {ECO:0000269|PubMed:12446564, ECO:0000269|PubMed:22197488}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30082
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000021.8) (NC_000021.9)