| Variant ID | 842 |
|---|---|
| Entrez Gene ID | 10908 |
| Gene | PNPLA6 (GeneCards) |
| Location | hg19 19:7615880-7615880
hg38 19:7550994-7550994 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.7615880 G>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 652 |
| Amino acid changes in protein | V > L |
| 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 | 0.2185 |
| CADD Raw score (version 1.3) | 4.347508 (Deleterious) |
| FATHMM raw prediction score | 0.98589 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.845 (Tolerated) |
| PROVEAN score | -2.77 (Deleterious) |
| MetaSVM score | -1.087 (Tolerated) |
| MetaLR score | 0.051 (Tolerated) |
| MCAP score | 0.083 (Deleterious) |
| FitCons score | 0.726 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.932 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.513 |
| Deleterious probability by iFish2 | 0.9364 (Deleterious) |
| Deleterious probability by DeFine | 0.9565 (Deleterious) |
| Entrez Gene ID | 10908 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PNPLA6 (GeneCards) |
| Number of variants in PNPLA6 in this database | 1 (view all the variants) |
| Full name | patatin like phospholipase domain containing 6 |
| Band | 19p13.2 |
| Other IDs | Vega: OTTHUMG00000182094 OMIM: 603197 HGNC: HGNC:16268 Ensembl: ENSG00000032444 |
| Other names | NTE, sws, BNHS, LNMS, OMCS, SPG39, NTEMND, iPLA2delta |
| Summary | This gene encodes a phospholipase that deacetylates intracellular phosphatidylcholine to produce glycerophosphocholine. It is thought to function in neurite outgrowth and process elongation during neuronal differentiation. The protein is anchored to the cytoplasmic face of the endoplasmic reticulum in both neurons and non-neuronal cells. Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration induced by organophosphorus compounds and chemical warfare agents. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] |
| 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; |