Overview

Variant ID 13437
Entrez Gene ID 5789
Gene PTPRD (GeneCards)
Location hg19 9:9812267-9812267
hg38 9:9812267-9812267
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000009.11:g.9812267 T>C (Genome Assembly: GRCh37)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.00003229
EIGEN score -0.6359
CADD Raw score (version 1.3) -0.482268 (Deleterious)
FATHMM raw prediction score 0.04453 (Tolerated)
Deleterious probability by DeFine 0.1461 (Neutral)
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 #1

Individual ID 29217584.13 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

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;