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STAG1 |
Gene Facts External Data Attribution
- HGNC Symbol
- STAG1 (HGNC:11354) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- STAG1 cohesin complex component
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SA-1, SCC3A, SA1
- %HI
- 8.33(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.16(Read more about gnomAD LOEUF score)
- Cytoband
- 3q22.3
- Genomic Coordinates
-
GRCh37/hg19: chr3:136055078-136471220 NCBI Ensembl UCSC GRCh38/hg38: chr3:136336236-136752378 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005862.3 ENST00000383202.7 (Read more about MANE Select)
- Function
- Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-31565
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)
