NPHP4 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NPHP4 (HGNC:19104) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- nephrocystin 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SLSN4, KIAA0673, POC10
- %HI
- 68.34(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.98(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.31
- Genomic Coordinates
-
GRCh37/hg19: chr1:5922871-6052485 NCBI Ensembl UCSC GRCh38/hg38: chr1:5862811-5992425 NCBI Ensembl UCSC - MANE Select Transcript
- NM_015102.5 ENST00000378156.9 (Read more about MANE Select)
- Function
- Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module (PubMed:19755384, PubMed:21565611). Does not seem to be strictly required for ciliogenesis (PubMed:21565611). Required for building functional cilia. Involved in the organization of the subapical actin network in multiciliated epithelial cells. Seems to recruit INT to basal bodies of motile cilia which subsequently interacts with actin-modifying proteins such as DAAM1 (By similarity). In co... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-2627
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Senior-Loken syndrome 4 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)