| Variant ID | 29938 |
|---|---|
| Entrez Gene ID | 6874 |
| Gene | TAF4 (GeneCards) |
| Location | hg19 20:60589640-60589640
hg38 20:62014584-62014584 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000020.10:g.60589640 G>C (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 | 63025520 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6349 |
| CADD Raw score (version 1.3) | 4.737639 (Deleterious) |
| FATHMM raw prediction score | 0.99361 (Tolerated) |
| SIFT score | 0.021 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.805 (Deleterious) |
| PROVEAN score | -5.17 (Deleterious) |
| MetaSVM score | -0.741 (Tolerated) |
| MetaLR score | 0.195 (Tolerated) |
| MCAP score | 0.052 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.201 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 17.592 |
| Deleterious probability by iFish2 | 0.6841 (Deleterious) |
| Deleterious probability by DeFine | 0.9634 (Deleterious) |
| Entrez Gene ID | 6874 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TAF4 (GeneCards) |
| Number of variants in TAF4 in this database | 1 (view all the variants) |
| Full name | TATA-box binding protein associated factor 4 |
| Band | 20q13.33 |
| Other IDs | Vega: OTTHUMG00000032893 OMIM: 601796 HGNC: HGNC:11537 Ensembl: ENSG00000130699 |
| Other names | TAF2C, TAF4A, TAF2C1, TAFII130, TAFII135 |
| Summary | Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.24 (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; |