| Variant ID | 29366 |
|---|---|
| Entrez Gene ID | 27131 |
| Gene | SNX5 (GeneCards) |
| Location | hg19 20:17928186-17928186
hg38 20:17947542-17947542 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.17928186 G>A (Genome Assembly: hg19) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.267 |
| CADD Raw score (version 1.3) | 2.742013 (Deleterious) |
| FATHMM raw prediction score | 0.93263 (Tolerated) |
| SIFT score | 0.197 (Tolerated) |
| LRT score | 0.024 (Tolerated) |
| MutationTaster score | 0.971 (Tolerated) |
| MutatioinAssessor score | 1.63 (Tolerated) |
| PROVEAN score | -1.54 (Tolerated) |
| MetaSVM score | -0.951 (Tolerated) |
| MetaLR score | 0.15 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.35 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.147 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.943 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.759 |
| Deleterious probability by iFish2 | 0.0961 (Neutral) |
| Deleterious probability by DeFine | 0.7974 (Deleterious) |
| Entrez Gene ID | 27131 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SNX5 (GeneCards) |
| Number of variants in SNX5 in this database | 2 (view all the variants) |
| Full name | sorting nexin 5 |
| Band | 20p11.23 |
| Other IDs | Vega: OTTHUMG00000031953 OMIM: 605937 HGNC: HGNC:14969 Ensembl: ENSG00000089006 |
| Other names | None |
| Summary | This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. This protein functions in endosomal sorting, the phosphoinositide-signaling pathway, and macropinocytosis. This gene may play a role in the tumorigenesis of papillary thyroid carcinoma. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013] |
| Individual ID | 28714951.42 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |