| Variant ID | 29624 |
|---|---|
| Entrez Gene ID | 121536 |
| Gene | AEBP2 (GeneCards) |
| Location | hg19 12:19592980-19592980
hg38 12:19440046-19440046 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.19592980 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003235 |
|---|---|
| EIGEN score | -0.9876 |
| CADD Raw score (version 1.3) | 1.989429 (Deleterious) |
| FATHMM raw prediction score | 0.28621 (Tolerated) |
| SIFT score | 0.003 (Deleterious) |
| MutationTaster score | 0.671 (Deleterious) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | 1.25 (Tolerated) |
| MetaSVM score | -1.061 (Tolerated) |
| MetaLR score | 0.143 (Tolerated) |
| MCAP score | 0.949 (Deleterious) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.725 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.552 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.042 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.043 |
| Deleterious probability by iFish2 | 0.016 (Neutral) |
| Deleterious probability by DeFine | 0.7609 (Deleterious) |
| Entrez Gene ID | 121536 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AEBP2 (GeneCards) |
| Number of variants in AEBP2 in this database | 13 (view all the variants) |
| Full name | AE binding protein 2 |
| Band | 12p12.3 |
| Other IDs | Vega: OTTHUMG00000168906 OMIM: 617934 HGNC: HGNC:24051 Ensembl: ENSG00000139154 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.300 (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; |