Overview

Variant ID 28414
Entrez Gene ID 1630
Gene DCC (GeneCards)
Location hg19 18:50876781-50876781
hg38 18:53350411-53350411
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000018.9:g.50876781 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 78077248

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 0.281
CADD Raw score (version 1.3) 0.377267 (Deleterious)
FATHMM raw prediction score 0.71897 (Tolerated)
Deleterious probability by DeFine 0.3576 (Neutral)
Entrez Gene ID 1630 (NCBI Gene)
Official Gene Symbol DCC (GeneCards)
Number of variants in DCC in this database 20 (view all the variants)
Full name DCC netrin 1 receptor
Band 18q21.2
Other IDs Vega: OTTHUMG00000132698
OMIM: 120470
HGNC: HGNC:2701
Ensembl: ENSG00000187323
Other names CRC18, CRCR1, MRMV1, HGPPS2, IGDCC1, NTN1R1
Summary This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID