| Variant ID | 29557 |
|---|---|
| Entrez Gene ID | 54464 |
| Gene | XRN1 (GeneCards) |
| Location | hg19 3:142151632-142151632
hg38 3:142432790-142432790 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.142151632 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8138 |
| CADD Raw score (version 1.3) | 4.022031 (Deleterious) |
| FATHMM raw prediction score | 0.99075 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.84 (Deleterious) |
| PROVEAN score | -4.78 (Deleterious) |
| MetaSVM score | -0.33 (Tolerated) |
| MetaLR score | 0.299 (Tolerated) |
| MCAP score | 0.065 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.199 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.576 |
| Deleterious probability by iFish2 | 0.952 (Deleterious) |
| Deleterious probability by DeFine | 0.9305 (Deleterious) |
| Entrez Gene ID | 54464 (NCBI Gene) |
|---|---|
| Official Gene Symbol | XRN1 (GeneCards) |
| Number of variants in XRN1 in this database | 1 (view all the variants) |
| Full name | 5'-3' exoribonuclease 1 |
| Band | 3q23 |
| Other IDs | Vega: OTTHUMG00000159251 OMIM: 607994 HGNC: HGNC:30654 Ensembl: ENSG00000114127 |
| Other names | SEP1 |
| Summary | This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-decapping protein 4. In addition to mRNA metabolism, a similar protein in yeast has been implicated in a variety of nuclear and cytoplasmic functions, including homologous recombination, meiosis, telomere maintenance, and microtubule assembly. Mutations in this gene are associated with osteosarcoma, suggesting that the encoded protein may also play a role in bone formation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
| Individual ID | 28714951.233 (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; |