| Variant ID | 29316 |
|---|---|
| Entrez Gene ID | 10735 |
| Gene | STAG2 (GeneCards) |
| Location | hg19 X:123156440-123156440
hg38 X:124022590-124022590 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000023.10:g.123156440 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | UTR5 |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 0.381317 (Deleterious) |
| FATHMM raw prediction score | 0.98119 (Tolerated) |
| Deleterious probability by DeFine | 0.829 (Deleterious) |
| Entrez Gene ID | 10735 (NCBI Gene) |
|---|---|
| Official Gene Symbol | STAG2 (GeneCards) |
| Number of variants in STAG2 in this database | 3 (view all the variants) |
| Full name | stromal antigen 2 |
| Band | Xq25 |
| Other IDs | Vega: OTTHUMG00000022725 OMIM: 300826 HGNC: HGNC:11355 Ensembl: ENSG00000101972 |
| Other names | SA2, SA-2, SCC3B, bA517O1.1 |
| Summary | The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013] |
| Individual ID | 28503910.193 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |