| Variant ID | 29865 |
|---|---|
| Entrez Gene ID | 57634 |
| Gene | EP400 (GeneCards) |
| Location | hg19 12:132516561-132516561
hg38 12:132032016-132032016 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000012.11:g.132516561 C>T (Genome Assembly: hg19) |
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 5493064 |
| Variant occurences in COSMIC | 1(biliary_tract) |
| EIGEN score | -0.194 |
| CADD Raw score (version 1.3) | 4.547448 (Deleterious) |
| FATHMM raw prediction score | 0.9013 (Tolerated) |
| SIFT score | 0.123 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | -1.585 (Tolerated) |
| PROVEAN score | -3.09 (Deleterious) |
| MetaSVM score | -0.812 (Tolerated) |
| MetaLR score | 0.16 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.9 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.926 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.272 |
| Deleterious probability by iFish2 | 0.421 (Neutral) |
| Deleterious probability by DeFine | 0.916 (Deleterious) |
| Entrez Gene ID | 57634 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EP400 (GeneCards) |
| Number of variants in EP400 in this database | 2 (view all the variants) |
| Full name | E1A binding protein p400 |
| Band | 12q24.33 |
| Other IDs | Vega: OTTHUMG00000187346 OMIM: 606265 HGNC: HGNC:11958 Ensembl: ENSG00000183495 |
| Other names | P400, CAGH32, TNRC12 |
| Summary | None |
| Individual ID | 28867142.15 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |