ZIC1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ZIC1 (HGNC:12872) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
Zic family member 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
ZIC, ZNF201
%HI
7.94(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.31(Read more about gnomAD LOEUF score)
Cytoband
3q24
Genomic Coordinates
GRCh37/hg19: chr3:147127152-147134506 NCBI Ensembl UCSC
GRCh38/hg38: chr3:147409365-147416719 NCBI Ensembl UCSC
MANE Select Transcript
NM_003412.4 ENST00000282928.5 (Read more about MANE Select)
Function
Acts as a transcriptional activator. Involved in neurogenesis. Plays important roles in the early stage of organogenesis of the CNS, as well as during dorsal spinal cord development and maturation of the cerebellum. Involved in the spatial distribution of mossy fiber (MF) neurons within the pontine gray nucleus (PGN). Plays a role in the regulation of MF axon pathway choice. Promotes MF migration towards ipsilaterally-located cerebellar territories. May have a role in shear flow mechanotransduct... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-37134
ClinGen Curation ID:
CCID:008134
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:
07/19/2021

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Deletions that encompass only ZIC1 have not been reported, and the clinical consequence of haploinsufficiency for ZIC1 alone is therefore unknown. For this reason, the haploinsufficiency score is 0. Heterozygous nonsense variants in the last exon of ZIC1, or last 50 nucleotides of the penultimate exon, have been reported in six apparently unrelated individuals with craniosynostosis (additional developmental/neurodevelopmental phenotypes in PMIDs: 27884935, 25985138, 26340333). The variants arose de novo in 5/5 cases where parental samples were available for testing, and are not expected to result in nonsense mediated decay. Twigg et al. (2015), PMID: 26340333 confirmed expression of cDNA transcripts containing the premature stop codon in cultured scalp fibroblasts from four subjects with nonsense variants. Expression levels were approximately equal to that of the wildtype transcript. Injection of ZIC1 RNA constructs that modeled patient variants into zebrafish embryos resulted in disruption of 66-79% of embryos, compared to just 8% when full length ZIC1 RNA was injected. The authors suggest the variants result in gain-of-function. For discussion of haploinsufficiency of the 3q24 Region (includes ZIC1), please see the linked region (ISCA-46553).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
Case reports of whole gene duplications including only the ZIC1 gene have not been been reported. Therefore, the triplosensitivity score is 0.

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)