• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NPHP1 (HGNC:7905) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
nephrocystin 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
NPH1
Alias symbols
JBTS4, SLSN1
%HI
60.82(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
2q13
Genomic Coordinates
GRCh37/hg19: chr2:110880925-110962590 NCBI Ensembl UCSC
GRCh38/hg38: chr2:110123348-110205013 NCBI Ensembl UCSC
MANE Select Transcript
NM_001128178.3 ENST00000445609.7 (Read more about MANE Select)
Function
Together with BCAR1 it may play a role in the control of epithelial cell polarity (By similarity). Involved in the organization of apical junctions in kidney cells together with NPHP4 and RPGRIP1L/NPHP8 (By similarity). Does not seem to be strictly required for ciliogenesis (By similarity). Seems to help to recruit PTK2B/PYK2 to cell matrix adhesions, thereby initiating phosphorylation of PTK2B/PYK2 and PTK2B/PYK2-dependent signaling (By similarity). May play a role in the regulation of intrafla... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-12639
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/10/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • Joubert Syndrome and related disorders Monarch
HI Evidence Comments:
Mutations in this gene are associated with the autosomal recessive conditions Joubert syndrome, Senior-Loken syndrome, and juvenile nephronopthisis. Homozygous deletions of a larger region including this gene and part of the MALL gene represent a common mechanism amongst affected individuals. See the linked region issue for more details regarding heterozygous carriers of deletions and duplications of this region.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
As above, duplications of the genomic region involving this gene and part of the MALL gene are discussed in the linked region issue. At this time, there have been no reports of whole gene duplications of NPHP1 ALONE.

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)