| Variant ID | 29213 |
|---|---|
| Entrez Gene ID | 23304 |
| Gene | UBR2 (GeneCards) |
| Location | hg19 6:42613210-42613210
hg38 6:42645472-42645472 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000006.11:g.42613210 G>A (Genome Assembly: GRCh37) |
| 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 | 0.8902 |
| CADD Raw score (version 1.3) | 6.097424 (Deleterious) |
| FATHMM raw prediction score | 0.9908 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.71 (Deleterious) |
| PROVEAN score | -2.96 (Deleterious) |
| MetaSVM score | -0.109 (Tolerated) |
| MetaLR score | 0.458 (Tolerated) |
| MCAP score | 0.045 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.6 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.482 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.966 |
| Deleterious probability by iFish2 | 0.5125 (Deleterious) |
| Deleterious probability by DeFine | 0.9658 (Deleterious) |
| Entrez Gene ID | 23304 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBR2 (GeneCards) |
| Number of variants in UBR2 in this database | 1 (view all the variants) |
| Full name | ubiquitin protein ligase E3 component n-recognin 2 |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014703 OMIM: 609134 HGNC: HGNC:21289 Ensembl: ENSG00000024048 |
| Other names | C6orf133, bA49A4.1, dJ242G1.1, dJ392M17.3 |
| Summary | This gene encodes an E3 ubiquitin ligase of the N-end rule proteolytic pathway that targets proteins with destabilizing N-terminal residues for polyubiquitylation and proteasome-mediated degradation. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010] |
| Individual ID | 28503910.90 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |