| Variant ID | 29529 |
|---|---|
| Entrez Gene ID | 7175 |
| Gene | TPR (GeneCards) |
| Location | hg19 1:186344048-186344048
hg38 1:186374916-186374916 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.186344048 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 |
|---|---|
| EIGEN score | -0.2973 |
| CADD Raw score (version 1.3) | 3.3786 (Deleterious) |
| FATHMM raw prediction score | 0.06984 (Tolerated) |
| SIFT score | 0.401 (Tolerated) |
| LRT score | 0.006 (Tolerated) |
| MutationTaster score | 0.997 (Tolerated) |
| MutatioinAssessor score | 0.755 (Tolerated) |
| PROVEAN score | 0.37 (Tolerated) |
| MetaSVM score | -1.057 (Tolerated) |
| MetaLR score | 0.038 (Tolerated) |
| MCAP score | 0.01 (Tolerated) |
| FitCons score | 0.442 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.52 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.221 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.112 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.128 |
| Deleterious probability by iFish2 | 0.0164 (Neutral) |
| Deleterious probability by DeFine | 0.887 (Deleterious) |
| Entrez Gene ID | 7175 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TPR (GeneCards) |
| Number of variants in TPR in this database | 1 (view all the variants) |
| Full name | translocated promoter region, nuclear basket protein |
| Band | 1q31.1 |
| Other IDs | Vega: OTTHUMG00000035580 OMIM: 189940 HGNC: HGNC:12017 Ensembl: ENSG00000047410 |
| Other names | None |
| Summary | This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.205 (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; |