| Variant ID | 29792 |
|---|---|
| Entrez Gene ID | 135250 |
| Gene | RAET1E (GeneCards) |
| Location | hg19 6:150211107-150211107
hg38 6:149889971-149889971 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000006.11:g.150211107 C>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5493 |
| CADD Raw score (version 1.3) | 0.516788 (Deleterious) |
| FATHMM raw prediction score | 0.02927 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0.008 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 2.18 (Deleterious) |
| PROVEAN score | -11.66 (Deleterious) |
| MetaSVM score | -1.074 (Tolerated) |
| MetaLR score | 0.024 (Tolerated) |
| MCAP score | 0.002 (Tolerated) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.892 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.065 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.415 |
| Deleterious probability by iFish2 | 0.143 (Neutral) |
| Deleterious probability by DeFine | 0.6028 (Deleterious) |
| Entrez Gene ID | 135250 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAET1E (GeneCards) |
| Number of variants in RAET1E in this database | 1 (view all the variants) |
| Full name | retinoic acid early transcript 1E |
| Band | 6q25.1 |
| Other IDs | Vega: OTTHUMG00000015796 OMIM: 609243 HGNC: HGNC:16793 Ensembl: ENSG00000164520 |
| Other names | RL-4, LETAL, ULBP4, N2DL-4, NKG2DL4, RAET1E2, bA350J20.7 |
| Summary | This gene belong to the RAET1 family, which consists of major histocompatibility complex (MHC) class I-related genes located in a cluster on chromosome 6q24.2-q25.3. This and RAET1G protein differ from other RAET1 proteins in that they have type I membrane-spanning sequences at their C termini rather than glycosylphosphatidylinositol anchor sequences. This protein functions as a ligand for NKG2D receptor, which is expressed on the surface of several types of immune cells, and is involved in innate and adaptive immune responses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2011] |
| Individual ID | 28867142.39 (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; |