| Variant ID | 20220 |
|---|---|
| Entrez Gene ID | 5797 |
| Gene | PTPRM (GeneCards) |
| Location | hg19 18:7748919-7748919
hg38 18:7748921-7748921 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.7748919 G>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.0037 |
| CADD Raw score (version 1.3) | 0.061991 (Deleterious) |
| FATHMM raw prediction score | 0.18158 (Tolerated) |
| Deleterious probability by DeFine | 0.2536 (Neutral) |
| Entrez Gene ID | 5797 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PTPRM (GeneCards) |
| Number of variants in PTPRM in this database | 12 (view all the variants) |
| Full name | protein tyrosine phosphatase, receptor type M |
| Band | 18p11.23 |
| Other IDs | Vega: OTTHUMG00000131575 OMIM: 176888 HGNC: HGNC:9675 Ensembl: ENSG00000173482 |
| Other names | RPTPM, RPTPU, PTPRL1, hR-PTP, R-PTP-MU |
| 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 possesses an extracellular region, a single transmembrane region, and two tandem catalytic domains, and thus represents a receptor-type PTP. The extracellular region contains a meprin-A5 antigen-PTP mu (MAM) domain, an Ig-like domain and four fibronectin type III-like repeats. This PTP has been shown to mediate cell-cell aggregation through the interaction with another molecule of this PTP on an adjacent cell. This PTP can interact with scaffolding protein RACK1/GNB2L1, which may be necessary for the downstream signaling in response to cell-cell adhesion. Alternative splicing results in multiple transcripts encoding distinct isoforms. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |