| Variant ID | 29881 |
|---|---|
| Entrez Gene ID | 9369 |
| Gene | NRXN3 (GeneCards) |
| Location | hg19 14:79434627-79434627
hg38 14:78968284-78968284 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.79434627 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2249433 |
| Variant occurences in COSMIC | 1(prostate)|2(large_intestine) |
| EIGEN score | 0.8369 |
| CADD Raw score (version 1.3) | 7.858322 (Deleterious) |
| FATHMM raw prediction score | 0.95451 (Tolerated) |
| SIFT score | 0.004 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.345 (Deleterious) |
| PROVEAN score | -4.27 (Deleterious) |
| MetaSVM score | 0.248 (Deleterious) |
| MetaLR score | 0.659 (Deleterious) |
| MCAP score | 0.15 (Deleterious) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.03 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.567 |
| Deleterious probability by iFish2 | 0.9232 (Deleterious) |
| Deleterious probability by DeFine | 0.9566 (Deleterious) |
| Entrez Gene ID | 9369 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NRXN3 (GeneCards) |
| Number of variants in NRXN3 in this database | 22 (view all the variants) |
| Full name | neurexin 3 |
| Band | 14q24.3-q31.1 |
| Other IDs | Vega: OTTHUMG00000171502 OMIM: 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] |
| Individual ID | 28867142.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |