| Variant ID | 29165 |
|---|---|
| Entrez Gene ID | 25930 |
| Gene | PTPN23 (GeneCards) |
| Location | hg19 3:47437547-47437547
hg38 3:47396057-47396057 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.47437547 T>C (Genome Assembly: GRCh37) |
| Exon or Intron | Intron |
|---|---|
| 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.2278 |
| CADD Raw score (version 1.3) | 0.362315 (Deleterious) |
| FATHMM raw prediction score | 0.14623 (Tolerated) |
| Deleterious probability by DeFine | 0.628 (Deleterious) |
| Entrez Gene ID | 25930 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPN23 (GeneCards) |
| Number of variants in PTPN23 in this database | 1 (view all the variants) |
| Full name | protein tyrosine phosphatase, non-receptor type 23 |
| Band | 3p21.31 |
| Other IDs | Vega: OTTHUMG00000133520 OMIM: 606584 HGNC: HGNC:14406 Ensembl: ENSG00000076201 |
| Other names | HDPTP, HD-PTP, PTP-TD14 |
| Summary | This gene encodes a member of the non-receptor type protein-tyrosine phosphatase family. The encoded protein may be involved in the regulation of small nuclear ribonucleo protein assembly and pre-mRNA splicing by modifying the survival motor neuron (SMN) complex. The encoded protein additionally plays a role in ciliogenesis and is part of endosomal sorting complex required for transport (ESCRT) pathways. This gene may serve a tumor suppressor function. [provided by RefSeq, Jul 2016] |
| Individual ID | 28503910.42 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |