| Variant ID | 29535 |
|---|---|
| Entrez Gene ID | 7227 |
| Gene | TRPS1 (GeneCards) |
| Location | hg19 8:116616940-116616940
hg38 8:115604713-115604713 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.116616940 C>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.1589 |
| CADD Raw score (version 1.3) | 5.657387 (Deleterious) |
| FATHMM raw prediction score | 0.93016 (Tolerated) |
| SIFT score | 0.002 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 0.55 (Tolerated) |
| PROVEAN score | -0.86 (Tolerated) |
| MetaSVM score | 0.833 (Deleterious) |
| MetaLR score | 0.831 (Deleterious) |
| MCAP score | 0.191 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.69 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.588 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.64 |
| Deleterious probability by iFish2 | 0.1152 (Neutral) |
| Deleterious probability by DeFine | 0.9319 (Deleterious) |
| Entrez Gene ID | 7227 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRPS1 (GeneCards) |
| Number of variants in TRPS1 in this database | 8 (view all the variants) |
| Full name | transcriptional repressor GATA binding 1 |
| Band | 8q23.3 |
| Other IDs | Vega: OTTHUMG00000142829 OMIM: 604386 HGNC: HGNC:12340 Ensembl: ENSG00000104447 |
| Other names | GC79, LGCR |
| Summary | This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.211 (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; |