| Variant ID | 29636 |
|---|---|
| Entrez Gene ID | 50613 |
| Gene | UBQLN3 (GeneCards) |
| Location | hg19 11:5530104-5530104
hg38 11:5508874-5508874 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000011.9:g.5530104 T>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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0717 |
| CADD Raw score (version 1.3) | 2.184906 (Deleterious) |
| FATHMM raw prediction score | 0.62598 (Tolerated) |
| SIFT score | 0.057 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.54 (Deleterious) |
| PROVEAN score | -3.42 (Deleterious) |
| MetaSVM score | -0.924 (Tolerated) |
| MetaLR score | 0.122 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.4 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.276 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.207 |
| Deleterious probability by iFish2 | 0.1855 (Neutral) |
| Deleterious probability by DeFine | 0.9276 (Deleterious) |
| Entrez Gene ID | 50613 (NCBI Gene) |
|---|---|
| Official Gene Symbol | UBQLN3 (GeneCards) |
| Number of variants in UBQLN3 in this database | 1 (view all the variants) |
| Full name | ubiquilin 3 |
| Band | 11p15.4 |
| Other IDs | Vega: OTTHUMG00000066886 OMIM: 605473 HGNC: HGNC:12510 Ensembl: ENSG00000175520 |
| Other names | TUP-1 |
| Summary | This gene encodes a ubiquitin-like protein (ubiquilin) that shares a high degree of similarity with related products in yeast, rat and frog. Ubiquilins contain an N-terminal ubiquitin-like domain and a C-terminal ubiquitin-associated domain. They physically associate with both proteasomes and ubiquitin ligases, and are thus thought to functionally link the ubiquitination machinery to the proteasome to affect in vivo protein degradation. This gene is specifically expressed in the testis. It has been suggested that this gene may regulate cell-cycle progression during spermatogenesis, however, it has been shown that the ortholgous mouse gene is dispensable for embryonic development and spermatogenesis. [provided by RefSeq, Nov 2016] |
| Individual ID | 28714951.312 (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; |