| Variant ID | 29635 |
|---|---|
| Entrez Gene ID | 23741 |
| Gene | EID1 (GeneCards) |
| Location | hg19 15:49170680-49170680
hg38 15:48878483-48878483 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.49170680 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4238 |
| CADD Raw score (version 1.3) | 6.382598 (Deleterious) |
| FATHMM raw prediction score | 0.60536 (Tolerated) |
| SIFT score | 0.009 (Deleterious) |
| MutationTaster score | 0.673 (Tolerated) |
| MutatioinAssessor score | 1.78 (Tolerated) |
| PROVEAN score | -2.31 (Tolerated) |
| MetaSVM score | -0.892 (Tolerated) |
| MetaLR score | 0.157 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.28 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.777 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.997 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.828 |
| Deleterious probability by iFish2 | 0.5776 (Deleterious) |
| Deleterious probability by DeFine | 0.9652 (Deleterious) |
| Entrez Gene ID | 23741 (NCBI Gene) |
|---|---|
| Official Gene Symbol | EID1 (GeneCards) |
| Number of variants in EID1 in this database | 1 (view all the variants) |
| Full name | EP300 interacting inhibitor of differentiation 1 |
| Band | 15q21.1 |
| Other IDs | Vega: OTTHUMG00000165911 OMIM: 605894 HGNC: HGNC:1191 Ensembl: ENSG00000255302 |
| Other names | CRI1, EID-1, RBP21, PTD014, C15orf3, PNAS-22, IRO45620 |
| Summary | None |
| Individual ID | 28714951.311 (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; |