| Variant ID | 806 |
|---|---|
| Entrez Gene ID | 5407 |
| Gene | PNLIPRP1 (GeneCards) |
| Location | hg19 10:118368581-118368581
hg38 10:116609069-116609069 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000010.10:g.118368581 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 453 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3434515 |
| Variant occurences in COSMIC | 2(skin) |
| EIGEN score | -1.1007 |
| CADD Raw score (version 1.3) | 0.890205 (Deleterious) |
| FATHMM raw prediction score | 0.04575 (Tolerated) |
| SIFT score | 0.41 (Tolerated) |
| LRT score | 0.584 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.66 (Tolerated) |
| PROVEAN score | -0.56 (Tolerated) |
| MetaSVM score | -1.022 (Tolerated) |
| MetaLR score | 0.114 (Tolerated) |
| MCAP score | 0.038 (Deleterious) |
| FitCons score | 0.455 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.408 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 4.011 |
| Deleterious probability by iFish2 | 0.0725 (Neutral) |
| Deleterious probability by DeFine | 0.7995 (Deleterious) |
| Entrez Gene ID | 5407 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PNLIPRP1 (GeneCards) |
| Number of variants in PNLIPRP1 in this database | 1 (view all the variants) |
| Full name | pancreatic lipase related protein 1 |
| Band | 10q25.3 |
| Other IDs | Vega: OTTHUMG00000019109 OMIM: 604422 HGNC: HGNC:9156 Ensembl: ENSG00000187021 |
| Other names | PLRP1 |
| 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; |