| Variant ID | 1083 |
|---|---|
| Entrez Gene ID | 83879 |
| Gene | CDCA7 (GeneCards) |
| Location | hg19 2:174231121-174231121
hg38 2:173366393-173366393 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.174231121 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 382 |
| Amino acid changes in protein | N > N |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4459917 |
| Variant occurences in COSMIC | 1(NS)|1(skin) |
| EIGEN score | 1.4367 |
| CADD Raw score (version 1.3) | 1.924377 (Deleterious) |
| FATHMM raw prediction score | 0.93524 (Tolerated) |
| Deleterious probability by DeFine | 0.9299 (Deleterious) |
| Entrez Gene ID | 83879 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDCA7 (GeneCards) |
| Number of variants in CDCA7 in this database | 10 (view all the variants) |
| Full name | cell division cycle associated 7 |
| Band | 2q31.1 |
| Other IDs | Vega: OTTHUMG00000132296 OMIM: 609937 HGNC: HGNC:14628 Ensembl: ENSG00000144354 |
| Other names | ICF3, JPO1 |
| Summary | This gene was identified as a c-Myc responsive gene, and behaves as a direct c-Myc target gene. Overexpression of this gene is found to enhance the transformation of lymphoblastoid cells, and it complements a transformation-defective Myc Box II mutant, suggesting its involvement in c-Myc-mediated cell transformation. Two alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |