PPP1R9A
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PPP1R9A (HGNC:14946) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
protein phosphatase 1 regulatory subunit 9A
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Neurabin-I, KIAA1222, FLJ20068
%HI
36.02(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.43(Read more about gnomAD pLI score)
LOEUF
0.51(Read more about gnomAD LOEUF score)
Cytoband
7q21.3
Genomic Coordinates
GRCh37/hg19: chr7:94536906-94925727 NCBI Ensembl UCSC
GRCh38/hg38: chr7:94907236-95296415 NCBI Ensembl UCSC
MANE Select Transcript
NM_001166160.2 ENST00000433360.6 (Read more about MANE Select)
Function
Binds to actin filaments (F-actin) and shows cross-linking activity. Binds along the sides of the F-actin. May be involved in neurite formation. Inhibits protein phosphatase 1-alpha activity (By similarity). {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-35207
ClinGen Curation ID:
CCID:007704
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
04/04/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000007.13) (NC_000007.14)