| Variant ID | 1139 |
|---|---|
| Entrez Gene ID | 3991 |
| Gene | LIPE (GeneCards) |
| Location | hg19 19:42911922-42911922
hg38 19:42407770-42407770 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.42911922 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 560 |
| Amino acid changes in protein | A > T |
| 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 | -1.2914 |
| CADD Raw score (version 1.3) | 0.594001 (Deleterious) |
| FATHMM raw prediction score | 0.02035 (Tolerated) |
| SIFT score | 0.667 (Tolerated) |
| LRT score | 0.246 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | -0.95 (Tolerated) |
| PROVEAN score | 0.6 (Tolerated) |
| MetaSVM score | -0.978 (Tolerated) |
| MetaLR score | 0.016 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.121 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.13 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.201 |
| Deleterious probability by iFish2 | 0.0337 (Neutral) |
| Deleterious probability by DeFine | 0.8868 (Deleterious) |
| Entrez Gene ID | 3991 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LIPE (GeneCards) |
| Number of variants in LIPE in this database | 1 (view all the variants) |
| Full name | lipase E, hormone sensitive type |
| Band | 19q13.2 |
| Other IDs | Vega: OTTHUMG00000182814 OMIM: 151750 HGNC: HGNC:6621 Ensembl: ENSG00000079435 |
| Other names | HSL, LHS, AOMS4, FPLD6 |
| Summary | The protein encoded by this gene has a long and a short form, generated by use of alternative translational start codons. The long form is expressed in steroidogenic tissues such as testis, where it converts cholesteryl esters to free cholesterol for steroid hormone production. The short form is expressed in adipose tissue, among others, where it hydrolyzes stored triglycerides to free fatty acids. [provided by RefSeq, Jul 2008] |
| 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; |