| Variant ID | 5759 |
|---|---|
| Entrez Gene ID | 347689 |
| Gene | SOX2-OT (GeneCards) |
| Location | hg19 3:181238181-181238181
hg38 3:181520393-181520393 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000003.11:g.181238181 A>G (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1487 |
| CADD Raw score (version 1.3) | 0.642393 (Deleterious) |
| FATHMM raw prediction score | 0.45359 (Tolerated) |
| Deleterious probability by DeFine | 0.4603 (Neutral) |
| Entrez Gene ID | 347689 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SOX2-OT (GeneCards) |
| Number of variants in SOX2-OT in this database | 8 (view all the variants) |
| Full name | SOX2 overlapping transcript |
| Band | 3q26.33 |
| Other IDs | OMIM: 616338 HGNC: HGNC:20209 |
| Other names | SOX2OT, NCRNA00043 |
| Summary | This gene produces alternatively spliced long non-coding RNAs. These RNAs were observed to be upregulated in tumor cells and positively correlated to expression of the SRY-box 2 gene. Overexpression of these transcripts may promote cell proliferation. [provided by RefSeq, Dec 2017] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |