| Variant ID | 29455 |
|---|---|
| Entrez Gene ID | 23357 |
| Gene | ANGEL1 (GeneCards) |
| Location | hg19 14:77275558-77275558
hg38 14:76809215-76809215 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.77275558 G>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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1803 |
| CADD Raw score (version 1.3) | 1.087181 (Deleterious) |
| FATHMM raw prediction score | 0.92657 (Tolerated) |
| SIFT score | 0.391 (Tolerated) |
| LRT score | 0.001 (Tolerated) |
| MutationTaster score | 0.88 (Tolerated) |
| MutatioinAssessor score | 0.805 (Tolerated) |
| PROVEAN score | -0.6 (Tolerated) |
| MetaSVM score | -1.053 (Tolerated) |
| MetaLR score | 0.034 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.719 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.71 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.063 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.557 |
| Deleterious probability by iFish2 | 0.0949 (Neutral) |
| Deleterious probability by DeFine | 0.9479 (Deleterious) |
| Entrez Gene ID | 23357 (NCBI Gene) |
|---|---|
| Official Gene Symbol | ANGEL1 (GeneCards) |
| Number of variants in ANGEL1 in this database | 1 (view all the variants) |
| Full name | angel homolog 1 |
| Band | 14q24.3 |
| Other IDs | Vega: OTTHUMG00000171494 HGNC: HGNC:19961 Ensembl: ENSG00000013523 |
| Other names | Ccr4e, KIAA0759 |
| Summary | None |
| Individual ID | 28714951.131 (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; |