DISC1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
DISC1 (HGNC:2888) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
DISC1 scaffold protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
81.6(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.89(Read more about gnomAD LOEUF score)
Cytoband
1q42.2
Genomic Coordinates
GRCh37/hg19: chr1:231762536-232177018 NCBI Ensembl UCSC
GRCh38/hg38: chr1:231626790-232041272 NCBI Ensembl UCSC
MANE Select Transcript
NM_018662.3 ENST00000439617.8 (Read more about MANE Select)
Function
Involved in the regulation of multiple aspects of embryonic and adult neurogenesis (PubMed:19502360, PubMed:19303846). Required for neural progenitor proliferation in the ventrical/subventrical zone during embryonic brain development and in the adult dentate gyrus of the hippocampus (By similarity). Participates in the Wnt-mediated neural progenitor proliferation as a positive regulator by modulating GSK3B activity and CTNNB1 abundance (PubMed:19303846). Plays a role as a modulator of the AKT-mT... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31865
ClinGen Curation ID:
CCID:006992
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:
03/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Osbun et al. (PMID: 21739582): This paper reports 4 potential pathogenic variants in DISC1 individuals with agenesis of the corpus callosum. Two of these were found in normal populations. One splice site mutation was also reported which disrupted the splice acceptor site; real time PCR showed reduced mRNA levels of the exon with the mutation in the patient. All mutations were inherited but parental phenotypic information was not available. Sachs et al (PMID: 15940305) also report a frameshift mutation at the 3' end of DISC1 in multiple individuals with schizophrenia and schizoaffective disorder in one family. Other indivudals in the family with various other mental illness diagnoses were negative. However, Green at al. (PMID: 16936759) report a case-control study where this mutation was not found in 655 patients with schizophrenia and was detected in 2 of 694 matched controls. Millar et al. (PMID: 10814723) report characterization of a balanced translocation that interrupts DISC1 in a family with extensive and variable psychiatric disease.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Also, a large duplication including several genes has been reported in association with autism but was inherited from the normal mother (PMID 20002455).

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)