| Variant ID | 1059 |
|---|---|
| Entrez Gene ID | 22974 |
| Gene | TPX2 (GeneCards) |
| Location | hg19 20:30386326-30386326
hg38 20:31798523-31798523 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000020.10:g.30386326 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 702 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4081 |
| CADD Raw score (version 1.3) | 4.974138 (Deleterious) |
| FATHMM raw prediction score | 0.98704 (Tolerated) |
| SIFT score | 0.026 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.435 (Deleterious) |
| PROVEAN score | -2 (Tolerated) |
| MetaSVM score | -0.946 (Tolerated) |
| MetaLR score | 0.133 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.23 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.667 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.785 |
| Deleterious probability by iFish2 | 0.4946 (Deleterious) |
| Deleterious probability by DeFine | 0.9565 (Deleterious) |
| Entrez Gene ID | 22974 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPX2 (GeneCards) |
| Number of variants in TPX2 in this database | 2 (view all the variants) |
| Full name | TPX2, microtubule nucleation factor |
| Band | 20q11.21 |
| Other IDs | Vega: OTTHUMG00000032190 OMIM: 605917 HGNC: HGNC:1249 Ensembl: ENSG00000088325 |
| Other names | DIL2, p100, DIL-2, HCTP4, FLS353, HCA519, REPP86, C20orf1, C20orf2, GD:C20orf1 |
| 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; |