GPR148
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPR148 (HGNC:23623) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
G protein-coupled receptor 148
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
PGR6
%HI
87.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.33(Read more about gnomAD pLI score)
LOEUF
1.86(Read more about gnomAD LOEUF score)
Cytoband
2q21.1
Genomic Coordinates
GRCh37/hg19: chr2:131486643-131487909 NCBI Ensembl UCSC
GRCh38/hg38: chr2:130729070-130730336 NCBI Ensembl UCSC
MANE Select Transcript
NM_207364.2 ENST00000309926.4 (Read more about MANE Select)
Function
Orphan receptor. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13728
ClinGen Curation ID:
CCID:007242
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...
Related Links:
Last Evaluated:
04/05/2018

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
GPR148 resides within the recurrent 2q21.1 deletion interval, and has been proposed as a candidate gene within this region. Focal deletions and loss-of-function mutations have not been reported thus far; therefore the haploinsufficiency score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
GPR148 resides within the recurrent 2q21.1 duplication interval. Focal duplications have not been reported thus far; therefore the triplosensitivity score is 0. Please see the linked region for further evidence relating to the 2q21.1 recurrent deletion/duplication.

Genomic View

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