STIL
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
STIL (HGNC:10879) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
STIL centriolar assembly protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SIL
Alias symbols
MCPH7
%HI
31.88(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.58(Read more about gnomAD LOEUF score)
Cytoband
1p33
Genomic Coordinates
GRCh37/hg19: chr1:47715811-47780568 NCBI Ensembl UCSC
GRCh38/hg38: chr1:47250139-47314896 NCBI Ensembl UCSC
MANE Select Transcript
NM_001048166.1 ENST00000371877.8 (Read more about MANE Select)
Function
Immediate-early gene. Plays an important role in embryonic development as well as in cellular growth and proliferation; its long- term silencing affects cell survival and cell cycle distribution as well as decreases CDK1 activity correlated with reduced phosphorylation of CDK1. Plays a role as a positive regulator of the sonic hedgehog pathway, acting downstream of PTCH1 (PubMed:16024801, PubMed:9372240). Plays an important role in the regulation of centriole duplication. Required for the onset ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-4178
ClinGen Curation ID:
CCID:007947
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • microcephaly 7, primary, autosomal recessive Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

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