RIPK4 |
- 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:
- Bartsocas-Papas syndrome 1 Monarch
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)