| Entrez Gene ID | 9369 |
|---|---|
| Official Gene Symbol | NRXN3 (GeneCards) |
| Full name | neurexin 3 |
| Location | 14q24.3-q31.1 |
| Other ids | Vega : OTTHUMG00000171502 MIM : 600567 HGNC : HGNC:8010 Ensembl : ENSG00000021645 |
| Other names | C14orf60 |
| Summary | This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012] |
Found 22 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 18029 | 9369 | NRXN3 | 14 | 79491236 | 79491236 | Asymptomatic | HiSeq X Ten |
| 18073 | 9369 | NRXN3 | 14 | 80555591 | 80555591 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18119 | 9369 | NRXN3 | 14 | 80129234 | 80129234 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18140 | 9369 | NRXN3 | 14 | 79971876 | 79971876 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18188 | 9369 | NRXN3 | 14 | 79649485 | 79649485 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18365 | 9369 | NRXN3 | 14 | 80058887 | 80058887 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18366 | 9369 | NRXN3 | 14 | 80451984 | 80451984 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18441 | 9369 | NRXN3 | 14 | 79060764 | 79060764 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18516 | 9369 | NRXN3 | 14 | 80407772 | 80407772 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18525 | 9369 | NRXN3 | 14 | 80302892 | 80302892 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18564 | 9369 | NRXN3 | 14 | 79699997 | 79699997 | Asymptomatic | HiSeq X Ten HiSeq 2000 |
| 18599 | 9369 | NRXN3 | 14 | 79532617 | 79532617 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 18609 | 9369 | NRXN3 | 14 | 79535652 | 79535652 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 18651 | 9369 | NRXN3 | 14 | 79102971 | 79102971 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 18652 | 9369 | NRXN3 | 14 | 79148903 | 79148903 | Cockayne syndrome | HiSeq X Ten HiSeq 2000 |
| 18666 | 9369 | NRXN3 | 14 | 79204078 | 79204078 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
| 18667 | 9369 | NRXN3 | 14 | 79664244 | 79664244 | Xeroderma Pigmentosum | HiSeq X Ten HiSeq 2000 |
| 23796 | 9369 | NRXN3 | 14 | 80614460 | 80614460 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 27810 | 9369 | NRXN3 | 14 | 78883640 | 78883640 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 27907 | 9369 | NRXN3 | 14 | 80131790 | 80131790 | Asymptomatic | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning |
| 29881 | 9369 | NRXN3 | 14 | 79434627 | 79434627 | Autism Spectrum Disorders | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NextSeq500 |
| 29987 | 9369 | NRXN3 | 14 | 79434627 | 79434627 | Autism Spectrum Disorders | HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning NextSeq500 PASM |