| Variant ID | 837 |
|---|---|
| Entrez Gene ID | 594855 |
| Gene | CPLX3 (GeneCards) |
| Location | hg19 15:75120416-75120416
hg38 15:74828075-74828075 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000015.9:g.75120416 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 69 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4056933 |
| Variant occurences in COSMIC | 1(stomach) |
| EIGEN score | 0.8744 |
| CADD Raw score (version 1.3) | 7.630007 (Deleterious) |
| FATHMM raw prediction score | 0.96777 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 |
| MutationTaster score | 0.997 (Deleterious) |
| MutatioinAssessor score | 3.045 (Deleterious) |
| PROVEAN score | -3.72 (Deleterious) |
| MetaSVM score | 0.065 (Deleterious) |
| MetaLR score | 0.472 (Tolerated) |
| MCAP score | 0.035 (Deleterious) |
| FitCons score | 0.598 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.428 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.341 |
| Deleterious probability by iFish2 | 0.8939 (Deleterious) |
| Deleterious probability by DeFine | 0.9685 (Deleterious) |
| Entrez Gene ID | 594855 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CPLX3 (GeneCards) |
| Number of variants in CPLX3 in this database | 2 (view all the variants) |
| Full name | complexin 3 |
| Band | 15q24.1 |
| Other IDs | Vega: OTTHUMG00000142816 OMIM: 609585 HGNC: HGNC:27652 Ensembl: ENSG00000213578 |
| Other names | CPXIII, CPX-III, Nbla11589 |
| Summary | None |
| Individual ID | 27788131.01 (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; |