| Variant ID | 29664 |
|---|---|
| Entrez Gene ID | 83439 |
| Gene | TCF7L1 (GeneCards) |
| Location | hg19 2:85529727-85529727
hg38 2:85302604-85302604 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.85529727 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.6447 |
| CADD Raw score (version 1.3) | 7.034462 (Deleterious) |
| FATHMM raw prediction score | 0.96234 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.84 (Deleterious) |
| PROVEAN score | -5.17 (Deleterious) |
| MetaSVM score | 1.088 (Deleterious) |
| MetaLR score | 0.968 (Deleterious) |
| MCAP score | 0.09 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.836 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.812 |
| Deleterious probability by iFish2 | 0.931 (Deleterious) |
| Deleterious probability by DeFine | 0.9341 (Deleterious) |
| Entrez Gene ID | 83439 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TCF7L1 (GeneCards) |
| Number of variants in TCF7L1 in this database | 3 (view all the variants) |
| Full name | transcription factor 7 like 1 |
| Band | 2p11.2 |
| Other IDs | Vega: OTTHUMG00000130026 OMIM: 604652 HGNC: HGNC:11640 Ensembl: ENSG00000152284 |
| Other names | TCF3, TCF-3 |
| Summary | This gene encodes a member of the T cell factor/lymphoid enhancer factor family of transcription factors. These transcription factors are activated by beta catenin, mediate the Wnt signaling pathway and are antagonized by the transforming growth factor beta signaling pathway. The encoded protein contains a high mobility group-box DNA binding domain and participates in the regulation of cell cycle genes and cellular senescence. [provided by RefSeq, Nov 2010] |
| Individual ID | 28714951.340 (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; |