| Variant ID | 29577 |
|---|---|
| Entrez Gene ID | 22803 |
| Gene | XRN2 (GeneCards) |
| Location | hg19 20:21319718-21319718
hg38 20:21339080-21339080 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000020.10:g.21319718 A>G (Genome Assembly: hg19) |
| 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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1029 |
| CADD Raw score (version 1.3) | 3.175637 (Deleterious) |
| FATHMM raw prediction score | 0.84038 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.825 (Deleterious) |
| PROVEAN score | -4.69 (Deleterious) |
| MetaSVM score | -1.032 (Tolerated) |
| MetaLR score | 0.095 (Tolerated) |
| MCAP score | 0.04 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.76 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.779 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.547 |
| Deleterious probability by iFish2 | 0.9226 (Deleterious) |
| Deleterious probability by DeFine | 0.8997 (Deleterious) |
| Entrez Gene ID | 22803 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XRN2 (GeneCards) |
| Number of variants in XRN2 in this database | 2 (view all the variants) |
| Full name | 5'-3' exoribonuclease 2 |
| Band | 20p11.22 |
| Other IDs | Vega: OTTHUMG00000032025 OMIM: 608851 HGNC: HGNC:12836 Ensembl: ENSG00000088930 |
| Other names | None |
| Summary | This gene encodes a 5'-3' exonuclease that promotes transcription termination at cotranscriptional cleavage sites. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
| Individual ID | 28714951.253 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |