| Variant ID | 921 |
|---|---|
| Entrez Gene ID | 408187 |
| Gene | SPINK14 (GeneCards) |
| Location | hg19 5:147554923-147554923
hg38 5:148175360-148175360 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000005.9:g.147554923 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 86 |
| Amino acid changes in protein | H > Y |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 180915260 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8843 |
| CADD Raw score (version 1.3) | -0.639901 (Deleterious) |
| FATHMM raw prediction score | 0.01008 (Tolerated) |
| SIFT score | 0.262 (Tolerated) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| PROVEAN score | -2.16 (Tolerated) |
| MetaSVM score | -0.895 (Tolerated) |
| MetaLR score | 0.231 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.4 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.323 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.003 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.638 |
| Deleterious probability by iFish2 | 0.5867 (Deleterious) |
| Deleterious probability by DeFine | 0.2546 (Neutral) |
| Entrez Gene ID | 408187 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SPINK14 (GeneCards) |
| Number of variants in SPINK14 in this database | 2 (view all the variants) |
| Full name | serine peptidase inhibitor, Kazal type 14 (putative) |
| Band | 5q32 |
| Other IDs | Vega: OTTHUMG00000129732 HGNC: HGNC:33825 Ensembl: ENSG00000196800 |
| Other names | SPINK5L2 |
| 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; |