| Variant ID | 29380 |
|---|---|
| Entrez Gene ID | 353091 |
| Gene | RAET1G (GeneCards) |
| Location | hg19 6:150238093-150238093
hg38 6:149916957-149916957 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.150238093 G>C (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -1.205 |
| CADD Raw score (version 1.3) | 2.393811 (Deleterious) |
| FATHMM raw prediction score | 0.00166 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.17 (Tolerated) |
| MetaSVM score | -0.932 (Tolerated) |
| MetaLR score | 0.001 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.516 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.317 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.895 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.001 |
| Deleterious probability by iFish2 | 0.0138 (Neutral) |
| Deleterious probability by DeFine | 0.6575 (Deleterious) |
| Entrez Gene ID | 353091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAET1G (GeneCards) |
| Number of variants in RAET1G in this database | 1 (view all the variants) |
| Full name | retinoic acid early transcript 1G |
| Band | 6q25.1 |
| Other IDs | Vega: OTTHUMG00000015802 OMIM: 609244 HGNC: HGNC:16795 Ensembl: ENSG00000203722 |
| Other names | ULBP5 |
| Summary | This gene encodes a member of the major histocompatibility complex (MHC) class I family of proteins. Although the encoded protein includes C-terminal transmembrane and cytoplasmic domains, proteolytic processing results in the removal of these domains and subsequent tethering to the plasma membrane by a glycosylphosphatidylinositol (GPI)-anchor. The encoded protein is one of several related ligands of the natural killer group 2, member D (NKG2D) receptor, which functions as an activating receptor in innate and adaptive immunity. This gene is present in a gene cluster on chromosome 6. [provided by RefSeq, Jul 2015] |
| Individual ID | 28714951.56 (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; |