Overview

Variant ID 23468
Entrez Gene ID 5789
Gene PTPRD (GeneCards)
Location hg19 9:10161393-10161393
hg38 9:10161393-10161393
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000009.11:g.10161393 A>G (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
EIGEN score -0.3027
CADD Raw score (version 1.3) -0.219132 (Deleterious)
FATHMM raw prediction score 0.09154 (Tolerated)
Deleterious probability by DeFine 0.0842 (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 29217587.01 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217587

Pubmed ID 29217587
Title Different mutational rates and mechanisms in human cells at pregastrulation and neurogenesis.
Journal Science
Publication date 2018.02
Disease Asymptomatic
Number of cases cases of unknown sex: 3;