| Variant ID | 29525 |
|---|---|
| Entrez Gene ID | 5431 |
| Gene | POLR2B (GeneCards) |
| Location | hg19 4:57889615-57889615
hg38 4:57023449-57023449 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.57889615 G>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2687 |
| CADD Raw score (version 1.3) | 14.870917 (Deleterious) |
| FATHMM raw prediction score | 0.98198 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.731 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 6.04 |
| PhyloP score based on multiple alignment of 100 vertebrates | 10.003 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.595 |
| Deleterious probability by DeFine | 0.9591 (Deleterious) |
| Entrez Gene ID | 5431 (NCBI Gene) |
|---|---|
| Official Gene Symbol | POLR2B (GeneCards) |
| Number of variants in POLR2B in this database | 2 (view all the variants) |
| Full name | RNA polymerase II subunit B |
| Band | 4q12 |
| Other IDs | Vega: OTTHUMG00000128771 OMIM: 180661 HGNC: HGNC:9188 Ensembl: ENSG00000047315 |
| Other names | RPB2, POL2RB, hRPB140 |
| Summary | This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014] |
| Individual ID | 28714951.201 (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; |