Variant ID | 10051 |
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Entrez Gene ID | 5796 |
Gene | PTPRK (GeneCards) |
Location | hg19 6:129054467-129054467
hg38 6:128733322-128733322 |
Disease | Cockayne syndrome (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000006.11:g.129054467 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 171115067 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.6211 |
CADD Raw score (version 1.3) | -0.548107 (Deleterious) |
FATHMM raw prediction score | 0.03604 (Tolerated) |
Deleterious probability by DeFine | 0.204 (Neutral) |
Entrez Gene ID | 5796 (NCBI Gene) |
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Official Gene Symbol | PTPRK (GeneCards) |
Number of variants in PTPRK in this database | 8 (view all the variants) |
Full name | protein tyrosine phosphatase, receptor type K |
Band | 6q22.33 |
Other IDs | Vega: OTTHUMG00000015536 OMIM: 602545 HGNC: HGNC:9674 Ensembl: ENSG00000152894 |
Other names | R-PTP-kappa |
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 was shown to mediate homophilic intercellular interaction, possibly through the interaction with beta- and gamma-catenin at adherens junctions. Expression of this gene was found to be stimulated by TGF-beta 1, which may be important for the inhibition of keratinocyte proliferation. [provided by RefSeq, Jul 2008] |
Individual ID | 29217584.16 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Female Patient |
Phenotype | 3 |
Disease | Cockayne syndrome (view all the variants in this disease) |
OMIM ID | 216400 |
Pubmed ID | 29217584 |
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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; |