| Variant ID | 29427 |
|---|---|
| Entrez Gene ID | 7316 |
| Gene | UBC (GeneCards) |
| Location | hg19 12:125397211-125397211
hg38 12:124912665-124912665 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000012.11:g.125397211 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006611 |
|---|---|
| EIGEN score | 1.2871 |
| CADD Raw score (version 1.3) | 0.284118 (Deleterious) |
| FATHMM raw prediction score | 0.83294 (Tolerated) |
| Deleterious probability by DeFine | 0.8388 (Deleterious) |
| Entrez Gene ID | 7316 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBC (GeneCards) |
| Number of variants in UBC in this database | 1 (view all the variants) |
| Full name | ubiquitin C |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000044421 OMIM: 191340 HGNC: HGNC:12468 Ensembl: ENSG00000150991 |
| Other names | HMG20 |
| Summary | This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010] |
| Individual ID | 28714951.103 (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; |