| Variant ID | 4487 |
|---|---|
| Entrez Gene ID | 83879 |
| Gene | CDCA7 (GeneCards) |
| Location | hg19 2:174275268-174275268
hg38 2:173410540-173410540 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.174275268 A>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.0963 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs16861616 |
| EIGEN score | -0.1169 |
| CADD Raw score (version 1.3) | -0.131557 (Deleterious) |
| FATHMM raw prediction score | 0.13228 (Tolerated) |
| Deleterious probability by DeFine | 0.3499 (Neutral) |
| 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 | 29217584.22 (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; |