| Variant ID | 29733 |
|---|---|
| Entrez Gene ID | 116255 |
| Gene | MOGAT1 (GeneCards) |
| Location | hg19 2:223554125-223554125
hg38 2:222689406-222689406 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.223554125 T>C (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5248 |
| CADD Raw score (version 1.3) | 2.232993 (Deleterious) |
| FATHMM raw prediction score | 0.96784 (Tolerated) |
| SIFT score | 0.905 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 0.46 (Tolerated) |
| PROVEAN score | 0.97 (Tolerated) |
| MetaSVM score | -1.07 (Tolerated) |
| MetaLR score | 0.02 (Tolerated) |
| MCAP score | 0.009 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.34 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.552 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.488 |
| Deleterious probability by iFish2 | 0.5568 (Deleterious) |
| Deleterious probability by DeFine | 0.9671 (Deleterious) |
| Entrez Gene ID | 116255 (NCBI Gene) |
|---|---|
| Official Gene Symbol | MOGAT1 (GeneCards) |
| Number of variants in MOGAT1 in this database | 1 (view all the variants) |
| Full name | monoacylglycerol O-acyltransferase 1 |
| Band | 2q36.1 |
| Other IDs | Vega: OTTHUMG00000153394 OMIM: 610268 HGNC: HGNC:18210 Ensembl: ENSG00000124003 |
| Other names | MGAT1, DGAT2L, DGAT2L1 |
| Summary | Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008] |
| Individual ID | 28867142.27 (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; |