| Variant ID | 29434 |
|---|---|
| Entrez Gene ID | 9941 |
| Gene | EXOG (GeneCards) |
| Location | hg19 3:38537991-38537991
hg38 3:38496500-38496500 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000003.11:g.38537991 G>T (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 | 0.651 |
| CADD Raw score (version 1.3) | 8.435945 (Deleterious) |
| FATHMM raw prediction score | 0.31047 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.22 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.367 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.909 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.696 |
| Deleterious probability by DeFine | 0.9212 (Deleterious) |
| Entrez Gene ID | 9941 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EXOG (GeneCards) |
| Number of variants in EXOG in this database | 2 (view all the variants) |
| Full name | exo/endonuclease G |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000131295 OMIM: 604051 HGNC: HGNC:3347 Ensembl: ENSG00000157036 |
| Other names | ENGL, ENGLA, ENGLB, ENGL-a, ENGL-b, ENDOGL1, ENDOGL2 |
| Summary | This gene encodes an endo/exonuclease with 5'-3' exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5' end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18. [provided by RefSeq, Feb 2009] |
| Individual ID | 28714951.110 (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; |