| Variant ID | 29238 |
|---|---|
| Entrez Gene ID | 55218 |
| Gene | EXD2 (GeneCards) |
| Location | hg19 14:69701564-69701564
hg38 14:69234847-69234847 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000014.8:g.69701564 G>C (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8703 |
| CADD Raw score (version 1.3) | 6.511267 (Deleterious) |
| FATHMM raw prediction score | 0.99675 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.755 (Deleterious) |
| PROVEAN score | -5.79 (Deleterious) |
| MetaSVM score | -0.039 (Tolerated) |
| MetaLR score | 0.486 (Tolerated) |
| MCAP score | 0.088 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.42 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.223 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.578 |
| Deleterious probability by iFish2 | 0.9877 (Deleterious) |
| Deleterious probability by DeFine | 0.9523 (Deleterious) |
| Entrez Gene ID | 55218 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXD2 (GeneCards) |
| Number of variants in EXD2 in this database | 4 (view all the variants) |
| Full name | exonuclease 3'-5' domain containing 2 |
| Band | 14q24.1 |
| Other IDs | Vega: OTTHUMG00000154496 OMIM: 616940 HGNC: HGNC:20217 Ensembl: ENSG00000081177 |
| Other names | EXDL2, C14orf114 |
| Summary | None |
| Individual ID | 28503910.115 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |