SKI |
- 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
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.81(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
ClinGen Curation ID:
CCID:007856
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)