| Variant ID | 902 |
|---|---|
| Entrez Gene ID | 147872 |
| Gene | CCDC155 (GeneCards) |
| Location | hg19 19:49900971-49900971
hg38 19:49397714-49397714 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.49900971 A>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 155 |
| Amino acid changes in protein | E > A |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4272 |
| CADD Raw score (version 1.3) | 4.009443 (Deleterious) |
| FATHMM raw prediction score | 0.9638 (Tolerated) |
| SIFT score | 0.115 (Tolerated) |
| LRT score | 0.018 (Tolerated) |
| MutationTaster score | 0.709 (Deleterious) |
| MutatioinAssessor score | 2.125 (Deleterious) |
| PROVEAN score | -2.17 (Tolerated) |
| MetaSVM score | -0.603 (Tolerated) |
| MetaLR score | 0.196 (Tolerated) |
| MCAP score | 0.021 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.1 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.827 |
| Deleterious probability by iFish2 | 0.3136 (Neutral) |
| Deleterious probability by DeFine | 0.9641 (Deleterious) |
| Entrez Gene ID | 147872 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CCDC155 (GeneCards) |
| Number of variants in CCDC155 in this database | 2 (view all the variants) |
| Full name | coiled-coil domain containing 155 |
| Band | 19q13.33 |
| Other IDs | Vega: OTTHUMG00000183170 HGNC: HGNC:26520 Ensembl: ENSG00000161609 |
| Other names | KASH5 |
| 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; |