• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CASZ1 (HGNC:26002) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
castor zinc finger 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
FLJ20321, ZNF693, castor, cst, SRG
%HI
12.36(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.15(Read more about gnomAD LOEUF score)
Cytoband
1p36.22
Genomic Coordinates
GRCh37/hg19: chr1:10696661-10856703 NCBI Ensembl UCSC
GRCh38/hg38: chr1:10636604-10796646 NCBI Ensembl UCSC
MANE Select Transcript
NM_001079843.3 ENST00000377022.8 (Read more about MANE Select)
Function
Transcriptional activator (PubMed:23639441, PubMed:27693370). Involved in vascular assembly and morphogenesis through direct transcriptional regulation of EGFL7 (PubMed:23639441). {ECO:0000269|PubMed:23639441, ECO:0000269|PubMed:27693370}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-11105
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
04/25/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 8263302
    C Yuen RK et. al., (2017) The authors performed Whole Genome Sequencing (WGS) of 5,193 unique individuals from families with Autism Spectrum Disorder (ASD). A CASZ1 frameshift insertion variant was identified de novo in two probands with Autism Spectrum Disorder. The specific phenotype and parental information is not available. Functional studies were not performed.
HI Evidence Comments:
Overall CASZ1 may be considered a candidate gene potentially related with the phenotype although further evidence is required to clarify a possible link with disease. For the paper below: Qiu et al. (2017) (PMID:28099117) and Huang et al. (2017) (PMID:27693370), questions remain with regards to how the CASZ1 gene was selected for testing and also if there was any additional testing performed in the probands. It is not clear if these studies represent two single-gene sequencing or are part of the same study. Qiu et al. (2017) (PMID:28099117) Studied a Han Chinese cohort of 138 patients with idiopathic Dilated Cardiomyopathy (DCM) and 200 unrelated healthy individuals used as controls. The coding exons and flanking introns of the CASZ1 gene were sequenced. The p.K351X nonsense mutation was detected in an index patient with Dilated Cardiomyopathy (DCM) which was transmitted as an autosomal dominant trait and co-segregated with DCM in carrier family members over 2 generations with complete penetrance. The mutant residue at amino acid 351 was is absent in gnomAD and highly conserved evolutionarily. Reporter gene assay performed in human cell cultures demonstrated no transcriptional activity by the mutant protein compared to wild type. Huang et al. (2017) (PMID:27693370) Studied a Han Chinese cohort of 172 patients with Ventricular Septal Defects (VSD) and 200 unrelated healthy individuals used as controls. The coding exons and flanking introns of the CASZ1 gene were sequenced. The p.L38P missense mutation was detected in an index patient with VSD, which was transmitted as an autosomal dominant trait and co-segregated with VSD in carrier family members over 3 generations with complete penetrance. The mutant residue at amino acid 38 was absent in gnomAD and highly conserved evolutionarily and insilico studies predicted the variant to be damaging. Reporter gene assay performed in human cell cultures demonstrated reduced transcriptional activity with the mutant protein compared to wild type.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No duplications involving only the entire CASZ1 gene reported

Genomic View

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