| Variant ID | 29688 |
|---|---|
| Entrez Gene ID | 23151 |
| Gene | GRAMD4 (GeneCards) |
| Location | hg19 22:47068805-47068805
hg38 22:46672908-46672908 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.47068805 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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3063928 |
| Variant occurences in COSMIC | 1(stomach)|1(cervix) |
| EIGEN score | -0.056 |
| CADD Raw score (version 1.3) | 2.404834 (Deleterious) |
| FATHMM raw prediction score | 0.91335 (Tolerated) |
| SIFT score | 0.523 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 0.978 (Deleterious) |
| MutatioinAssessor score | 1.95 (Deleterious) |
| PROVEAN score | -0.9 (Tolerated) |
| MetaSVM score | -1.071 (Tolerated) |
| MetaLR score | 0.053 (Tolerated) |
| MCAP score | 0.014 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.63 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.028 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.352 |
| Deleterious probability by iFish2 | 0.238 (Neutral) |
| Deleterious probability by DeFine | 0.9535 (Deleterious) |
| Entrez Gene ID | 23151 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GRAMD4 (GeneCards) |
| Number of variants in GRAMD4 in this database | 1 (view all the variants) |
| Full name | GRAM domain containing 4 |
| Band | 22q13.31 |
| Other IDs | Vega: OTTHUMG00000150402 OMIM: 613691 HGNC: HGNC:29113 Ensembl: ENSG00000075240 |
| Other names | DIP, dA59H18.1, dJ439F8.1 |
| Summary | GRAMD4 is a mitochondrial effector of E2F1 (MIM 189971)-induced apoptosis (Stanelle et al., 2005 [PubMed 15565177]).[supplied by OMIM, Jan 2011] |
| Individual ID | 28714951.364 (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; |