| Variant ID | 996 |
|---|---|
| Entrez Gene ID | 84103 |
| Gene | C4orf17 (GeneCards) |
| Location | hg19 4:100463213-100463213
hg38 4:99542056-99542056 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.100463213 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 343 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5918363 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | -0.5011 |
| CADD Raw score (version 1.3) | 2.352604 (Deleterious) |
| FATHMM raw prediction score | 0.33799 (Tolerated) |
| SIFT score | 0.157 (Tolerated) |
| LRT score | 0.003 (Tolerated) |
| MutationTaster score | 0.934 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.34 (Tolerated) |
| MetaSVM score | -1.057 (Tolerated) |
| MetaLR score | 0.03 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.26 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.609 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.99 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.248 |
| Deleterious probability by iFish2 | 0.0834 (Neutral) |
| Deleterious probability by DeFine | 0.7938 (Deleterious) |
| Entrez Gene ID | 84103 (NCBI Gene) |
|---|---|
| Official Gene Symbol | C4orf17 (GeneCards) |
| Number of variants in C4orf17 in this database | 1 (view all the variants) |
| Full name | chromosome 4 open reading frame 17 |
| Band | 4q23 |
| Other IDs | Vega: OTTHUMG00000131027 HGNC: HGNC:25274 Ensembl: ENSG00000138813 |
| Other names | None |
| Summary | None |
| 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; |