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)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
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)