PSD3
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PSD3 (HGNC:19093) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
pleckstrin and Sec7 domain containing 3
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0942, HCA67, EFA6R, DKFZp761K1423, EFA6D
%HI
45.05(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.57(Read more about gnomAD LOEUF score)
Cytoband
8p22
Genomic Coordinates
GRCh37/hg19: chr8:18384813-18871213 NCBI Ensembl UCSC
GRCh38/hg38: chr8:18527303-19084805 NCBI Ensembl UCSC
MANE Select Transcript
NM_015310.4 ENST00000327040.13 (Read more about MANE Select)
Function
Guanine nucleotide exchange factor for ARF6. {ECO:0000250}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-5231
ClinGen Curation ID:
CCID:007722
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:
12/07/2016

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Bayram et al (2016, PMID: 26752647) identified a single missesne variant in PSD3 shown to cosegregate with disease in a multi-generational family with antecubital pterygium syndrome. Additionally, a rare paternally inherited duplication (i.e ~800 kb) that intersects/disrupts PSD3 has been reported in an isolated case of nonsyndromic ASD (reported initially in Pinto et al (2010, PMID: 20531469, also see PMID 26185613). However, the function of PSD3 is not well established, and whole gene deletions of PSD3 have not been reported.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No whole gene duplications of PSD3 has been described, and there is currently no evidence to support a claim of triplosensitivity of this gene.

Genomic View

Select assembly: (NC_000008.10) (NC_000008.11)