| Variant ID | 29534 |
|---|---|
| Entrez Gene ID | 5789 |
| Gene | PTPRD (GeneCards) |
| Location | hg19 9:8507360-8507360
hg38 9:8507360-8507360 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000009.11:g.8507360 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 | 141213431 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7102 |
| CADD Raw score (version 1.3) | 7.753072 (Deleterious) |
| FATHMM raw prediction score | 0.96928 (Tolerated) |
| SIFT score | 0.033 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.395 (Deleterious) |
| PROVEAN score | -2.87 (Deleterious) |
| MetaSVM score | -0.354 (Tolerated) |
| MetaLR score | 0.412 (Tolerated) |
| MCAP score | 0.011 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.06 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.997 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.64 |
| Deleterious probability by iFish2 | 0.5562 (Deleterious) |
| Deleterious probability by DeFine | 0.9508 (Deleterious) |
| Entrez Gene ID | 5789 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRD (GeneCards) |
| Number of variants in PTPRD in this database | 46 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type D |
| Band | 9p24.1-p23 |
| Other IDs | Vega: OTTHUMG00000021005 OMIM: 601598 HGNC: HGNC:9668 Ensembl: ENSG00000153707 |
| Other names | HPTP, PTPD, HPTPD, HPTPDELTA, RPTPDELTA |
| Summary | The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010] |
| Individual ID | 28714951.210 (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; |