| Variant ID | 29595 |
|---|---|
| Entrez Gene ID | 84465 |
| Gene | MEGF11 (GeneCards) |
| Location | hg19 15:66210324-66210324
hg38 15:65917986-65917986 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000015.9:g.66210324 A>G (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 | -0.6362 |
| CADD Raw score (version 1.3) | 1.047507 (Deleterious) |
| FATHMM raw prediction score | 0.86475 (Tolerated) |
| SIFT score | 1 (Tolerated) |
| LRT score | 0.02 (Tolerated) |
| MutationTaster score | 0.925 (Deleterious) |
| MutatioinAssessor score | -0.545 (Tolerated) |
| PROVEAN score | 1.04 (Tolerated) |
| MetaSVM score | -1.011 (Tolerated) |
| MetaLR score | 0.024 (Tolerated) |
| MCAP score | 0.008 (Tolerated) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.39 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.793 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.998 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 10.279 |
| Deleterious probability by iFish2 | 0.0465 (Neutral) |
| Deleterious probability by DeFine | 0.9622 (Deleterious) |
| Entrez Gene ID | 84465 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MEGF11 (GeneCards) |
| Number of variants in MEGF11 in this database | 10 (view all the variants) |
| Full name | multiple EGF like domains 11 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000133175 OMIM: 612454 HGNC: HGNC:29635 Ensembl: ENSG00000157890 |
| Other names | None |
| Summary | None |
| Individual ID | 28714951.271 (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; |