| Entrez Gene ID | 26053 |
|---|---|
| Official Gene Symbol | AUTS2 (GeneCards) |
| Full name | AUTS2, activator of transcription and developmental regulator |
| Location | 7q11.22 |
| Other ids | Vega : OTTHUMG00000023865 MIM : 607270 HGNC : HGNC:14262 Ensembl : ENSG00000158321 |
| Other names | MRD26, FBRSL2 |
| Summary | This gene has been implicated in neurodevelopment and as a candidate gene for numerous neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in this gene have also been associated with non-neurological disorders, such as acute lymphoblastic leukemia, aging of the skin, early-onset androgenetic alopecia, and certain cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2014] |
Found 13 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 10457 | 26053 | AUTS2 | 7 | 70087748 | 70087748 | Asymptomatic | HiSeq 2000 |
| 10523 | 26053 | AUTS2 | 7 | 70594361 | 70594361 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 10603 | 26053 | AUTS2 | 7 | 70299902 | 70299902 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 10727 | 26053 | AUTS2 | 7 | 70064580 | 70064580 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 10821 | 26053 | AUTS2 | 7 | 69350805 | 69350805 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 10822 | 26053 | AUTS2 | 7 | 70060424 | 70060424 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 10859 | 26053 | AUTS2 | 7 | 70144582 | 70144582 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 11199 | 26053 | AUTS2 | 7 | 69182634 | 69182634 | Asymptomatic | HiSeq 2000 HiSeq X Ten |
| 11364 | 26053 | AUTS2 | 7 | 69578755 | 69578755 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 11381 | 26053 | AUTS2 | 7 | 69685864 | 69685864 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 11447 | 26053 | AUTS2 | 7 | 70319924 | 70319924 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 11465 | 26053 | AUTS2 | 7 | 69189378 | 69189378 | Cockayne syndrome | HiSeq 2000 HiSeq X Ten |
| 23203 | 26053 | AUTS2 | 7 | 69273446 | 69273446 | Asymptomatic | HiSeq 2000 HiSeq X Ten Single cell Sequencing Cell cloning |