| Variant ID | 862 |
|---|---|
| Entrez Gene ID | 64850 |
| Gene | ETNPPL (GeneCards) |
| Location | hg19 4:109663689-109663689
hg38 4:108742533-108742533 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000004.11:g.109663689 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 484 |
| Amino acid changes in protein | G > E |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0403 |
| CADD Raw score (version 1.3) | 4.951972 (Deleterious) |
| FATHMM raw prediction score | 0.42861 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| LRT score | 0.025 (Tolerated) |
| MutationTaster score | 0.994 (Deleterious) |
| MutatioinAssessor score | 2.62 (Deleterious) |
| PROVEAN score | -1.11 (Tolerated) |
| MetaSVM score | 0.22 (Deleterious) |
| MetaLR score | 0.643 (Deleterious) |
| MCAP score | 0.075 (Deleterious) |
| FitCons score | 0.549 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.78 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.989 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.175 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.085 |
| Deleterious probability by iFish2 | 0.1332 (Neutral) |
| Deleterious probability by DeFine | 0.8621 (Deleterious) |
| Entrez Gene ID | 64850 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ETNPPL (GeneCards) |
| Number of variants in ETNPPL in this database | 1 (view all the variants) |
| Full name | ethanolamine-phosphate phospho-lyase |
| Band | 4q25 |
| Other IDs | Vega: OTTHUMG00000161036 OMIM: 614682 HGNC: HGNC:14404 Ensembl: ENSG00000164089 |
| Other names | AGXT2L1 |
| 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; |