| Variant ID | 29759 |
|---|---|
| Entrez Gene ID | 323 |
| Gene | APBB2 (GeneCards) |
| Location | hg19 4:40818170-40818170
hg38 4:40816153-40816153 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000004.11:g.40818170 C>G (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.4934 |
| CADD Raw score (version 1.3) | 6.906381 (Deleterious) |
| FATHMM raw prediction score | 0.98442 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.905 (Tolerated) |
| PROVEAN score | -3.1 (Deleterious) |
| MetaSVM score | -0.441 (Tolerated) |
| MetaLR score | 0.301 (Tolerated) |
| MCAP score | 0.081 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.7 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.332 |
| Deleterious probability by iFish2 | 0.8729 (Deleterious) |
| Deleterious probability by DeFine | 0.962 (Deleterious) |
| Entrez Gene ID | 323 (NCBI Gene) |
|---|---|
| Official Gene Symbol | APBB2 (GeneCards) |
| Number of variants in APBB2 in this database | 5 (view all the variants) |
| Full name | amyloid beta precursor protein binding family B member 2 |
| Band | 4p14-p13 |
| Other IDs | Vega: OTTHUMG00000160416 OMIM: 602710 HGNC: HGNC:582 Ensembl: ENSG00000163697 |
| Other names | FE65L, FE65L1 |
| Summary | The protein encoded by this gene interacts with the cytoplasmic domains of amyloid beta (A4) precursor protein and amyloid beta (A4) precursor-like protein 2. This protein contains two phosphotyrosine binding (PTB) domains, which are thought to function in signal transduction. Polymorphisms in this gene have been associated with Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] |
| Individual ID | 28867142.32 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |