| Variant ID | 29336 |
|---|---|
| Entrez Gene ID | 129563 |
| Gene | DIS3L2 (GeneCards) |
| Location | hg19 2:233103250-233103250
hg38 2:232238540-232238540 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.233103250 C>A (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8465 |
| CADD Raw score (version 1.3) | 2.641023 (Deleterious) |
| FATHMM raw prediction score | 0.32483 (Tolerated) |
| SIFT score | 0.029 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.993 (Deleterious) |
| MutatioinAssessor score | 1.225 (Tolerated) |
| PROVEAN score | -3.67 (Deleterious) |
| MetaSVM score | -1.113 (Tolerated) |
| MetaLR score | 0.062 (Tolerated) |
| MCAP score | 0.022 (Tolerated) |
| FitCons score | 0.626 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -2.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.492 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.24 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.793 |
| Deleterious probability by iFish2 | 0.2405 (Neutral) |
| Deleterious probability by DeFine | 0.7724 (Deleterious) |
| Entrez Gene ID | 129563 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DIS3L2 (GeneCards) |
| Number of variants in DIS3L2 in this database | 6 (view all the variants) |
| Full name | DIS3 like 3'-5' exoribonuclease 2 |
| Band | 2q37.1 |
| Other IDs | Vega: OTTHUMG00000153385 OMIM: 614184 HGNC: HGNC:28648 Ensembl: ENSG00000144535 |
| Other names | FAM6A, PRLMNS, hDIS3L2 |
| Summary | The protein encoded by this gene is similar in sequence to 3'/5' exonucleolytic subunits of the RNA exosome. The exosome is a large multimeric ribonucleotide complex responsible for degrading various RNA substrates. Several transcript variants, some protein-coding and some not, have been found for this gene. [provided by RefSeq, Mar 2012] |
| Individual ID | 28714951.12 (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; |