| Variant ID | 20779 |
|---|---|
| Entrez Gene ID | 1630 |
| Gene | DCC (GeneCards) |
| Location | hg19 18:50097676-50097676
hg38 18:52571306-52571306 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.50097676 C>T (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 | -0.5474 |
| CADD Raw score (version 1.3) | -0.423099 (Deleterious) |
| FATHMM raw prediction score | 0.0895 (Tolerated) |
| Deleterious probability by DeFine | 0.7161 (Deleterious) |
| 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 ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |