• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SKI (HGNC:10896) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
SKI proto-oncogene
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
34.04(Read more about the DECIPHER Haploinsufficiency Index)
pLI
1(Read more about gnomAD pLI score)
LOEUF
0.19(Read more about gnomAD LOEUF score)
Cytoband
1p36.33-p36.32
Genomic Coordinates
GRCh37/hg19: chr1:2159758-2241652 NCBI Ensembl UCSC
GRCh38/hg38: chr1:2228319-2310213 NCBI Ensembl UCSC
MANE Select Transcript
NM_003036.4 ENST00000378536.5 (Read more about MANE Select)
Function
May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling. {ECO:0000269|PubMed:19049980}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-16673
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
01/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
Large deletions of the 1p36 region containing multiple genes have been described as 1p36 microdeletion syndrome (PMID: 12376748 ;PMID: 20635359 ; etc. . See Gene Reviews: http://www.ncbi.nlm.nih.gov/books/NBK1191/. However, it is not known if a focal deletion of the SKI gene would result in any or some of the features of 1p36 deletion syndrome.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

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