| Variant ID | 4056 |
|---|---|
| Entrez Gene ID | 129446 |
| Gene | XIRP2 (GeneCards) |
| Location | hg19 2:168104768-168104768
hg38 2:167248258-167248258 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.168104768 T>A (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3683 |
| CADD Raw score (version 1.3) | 4.689168 (Deleterious) |
| FATHMM raw prediction score | 0.94447 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.028 (Tolerated) |
| MutationTaster score | 0.931 (Deleterious) |
| MutatioinAssessor score | 2.32 (Deleterious) |
| PROVEAN score | -2.35 (Tolerated) |
| MetaSVM score | -1 (Tolerated) |
| MetaLR score | 0.088 (Tolerated) |
| MCAP score | 0.022 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.17 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.085 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.761 |
| Deleterious probability by iFish2 | 0.0296 (Neutral) |
| Deleterious probability by DeFine | 0.7999 (Deleterious) |
| Entrez Gene ID | 129446 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XIRP2 (GeneCards) |
| Number of variants in XIRP2 in this database | 5 (view all the variants) |
| Full name | xin actin binding repeat containing 2 |
| Band | 2q24.3 |
| Other IDs | Vega: OTTHUMG00000154027 OMIM: 609778 HGNC: HGNC:14303 Ensembl: ENSG00000163092 |
| Other names | CMYA3 |
| Summary | None |
| Individual ID | 29217584.14 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |