| Variant ID | 29506 |
|---|---|
| Entrez Gene ID | 7942 |
| Gene | TFEB (GeneCards) |
| Location | hg19 6:41657498-41657498
hg38 6:41689760-41689760 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.41657498 T>A (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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3039 |
| CADD Raw score (version 1.3) | 3.540645 (Deleterious) |
| FATHMM raw prediction score | 0.83585 (Tolerated) |
| SIFT score | 0.104 (Tolerated) |
| LRT score | 0.004 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.87 (Tolerated) |
| PROVEAN score | -1.36 (Tolerated) |
| MetaSVM score | -1.102 (Tolerated) |
| MetaLR score | 0.054 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.632 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.36 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.144 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.074 |
| Deleterious probability by iFish2 | 0.2257 (Neutral) |
| Deleterious probability by DeFine | 0.9642 (Deleterious) |
| Entrez Gene ID | 7942 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TFEB (GeneCards) |
| Number of variants in TFEB in this database | 1 (view all the variants) |
| Full name | transcription factor EB |
| Band | 6p21.1 |
| Other IDs | Vega: OTTHUMG00000014684 OMIM: 600744 HGNC: HGNC:11753 Ensembl: ENSG00000112561 |
| Other names | TCFEB, BHLHE35, ALPHATFEB |
| Summary | None |
| Individual ID | 28714951.182 (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; |