| Variant ID | 1134 |
|---|---|
| Entrez Gene ID | 5055 |
| Gene | SERPINB2 (GeneCards) |
| Location | hg19 18:61558810-61558810
hg38 18:63891576-63891576 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000018.9:g.61558810 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 44 |
| Amino acid changes in protein | M > I |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2992 |
| CADD Raw score (version 1.3) | 3.486127 (Deleterious) |
| FATHMM raw prediction score | 0.58974 (Tolerated) |
| SIFT score | 0.012 (Deleterious) |
| LRT score | 0.016 (Tolerated) |
| MutationTaster score | 0.804 (Tolerated) |
| MutatioinAssessor score | 1.87 (Tolerated) |
| PROVEAN score | -1.01 (Tolerated) |
| MetaSVM score | -0.604 (Tolerated) |
| MetaLR score | 0.359 (Tolerated) |
| MCAP score | 0.051 (Deleterious) |
| FitCons score | 0.693 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.48 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.137 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.991 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.259 |
| Deleterious probability by iFish2 | 0.198 (Neutral) |
| Deleterious probability by DeFine | 0.878 (Deleterious) |
| Entrez Gene ID | 5055 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SERPINB2 (GeneCards) |
| Number of variants in SERPINB2 in this database | 2 (view all the variants) |
| Full name | serpin family B member 2 |
| Band | 18q21.33-q22.1 |
| Other IDs | Vega: OTTHUMG00000060592 OMIM: 173390 HGNC: HGNC:8584 Ensembl: ENSG00000197632 |
| Other names | PAI, PAI2, PAI-2, PLANH2, HsT1201 |
| 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; |