| Variant ID | 29470 |
|---|---|
| Entrez Gene ID | 8458 |
| Gene | TTF2 (GeneCards) |
| Location | hg19 1:117619442-117619442
hg38 1:117076820-117076820 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.117619442 C>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.0000646 |
|---|---|
| EIGEN score | -0.1948 |
| CADD Raw score (version 1.3) | 7.020231 (Deleterious) |
| FATHMM raw prediction score | 0.42441 (Tolerated) |
| LRT score | 0.92 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.11 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.307 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.013 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.81 |
| Deleterious probability by DeFine | 0.8429 (Deleterious) |
| Entrez Gene ID | 8458 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TTF2 (GeneCards) |
| Number of variants in TTF2 in this database | 1 (view all the variants) |
| Full name | transcription termination factor 2 |
| Band | 1p13.1 |
| Other IDs | Vega: OTTHUMG00000012030 OMIM: 604718 HGNC: HGNC:12398 Ensembl: ENSG00000116830 |
| Other names | HF2, ZGRF6 |
| Summary | This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.146 (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; |