| Variant ID | 4255 |
|---|---|
| Entrez Gene ID | 9378 |
| Gene | NRXN1 (GeneCards) |
| Location | hg19 2:50231439-50231439
hg38 2:50004301-50004301 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.50231439 T>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0315 |
| CADD Raw score (version 1.3) | 0.394337 (Deleterious) |
| FATHMM raw prediction score | 0.20765 (Tolerated) |
| Deleterious probability by DeFine | 0.2785 (Neutral) |
| Entrez Gene ID | 9378 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRXN1 (GeneCards) |
| Number of variants in NRXN1 in this database | 48 (view all the variants) |
| Full name | neurexin 1 |
| Band | 2p16.3 |
| Other IDs | Vega: OTTHUMG00000129263 OMIM: 600565 HGNC: HGNC:8008 Ensembl: ENSG00000179915 |
| Other names | PTHSL2, SCZD17, Hs.22998 |
| Summary | This gene encodes a single-pass type I membrane protein that belongs to the neurexin family. Neurexins are cell-surface receptors that bind neuroligins to form Ca(2+)-dependent neurexin/neuroligin complexes at synapses in the central nervous system. This complex is required for efficient neurotransmission and is involved in the formation of synaptic contacts. Three members of this gene family have been studied in detail and are estimated to generate over 3,000 variants through the use of two alternative promoters (alpha and beta) and extensive alternative splicing in each family member. Recently, a third promoter (gamma) was identified for this gene in the 3' region. Mutations in this gene are associated with Pitt-Hopkins-like syndrome-2 and may contribute to susceptibility to schizophrenia. [provided by RefSeq, Aug 2016] |
| Individual ID | 29217584.16 (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; |