| Variant ID | 29669 |
|---|---|
| Entrez Gene ID | 81793 |
| Gene | TLR10 (GeneCards) |
| Location | hg19 4:38775885-38775885
hg38 4:38774264-38774264 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.38775885 T>C (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.8865 |
| CADD Raw score (version 1.3) | -0.90505 (Deleterious) |
| FATHMM raw prediction score | 0.17003 (Tolerated) |
| SIFT score | 0.055 (Tolerated) |
| LRT score | 0.14 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.04 (Tolerated) |
| PROVEAN score | -0.68 (Tolerated) |
| MetaSVM score | -0.997 (Tolerated) |
| MetaLR score | 0.052 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.632 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.1 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.144 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.046 |
| Deleterious probability by iFish2 | 0.0116 (Neutral) |
| Deleterious probability by DeFine | 0.6767 (Deleterious) |
| Entrez Gene ID | 81793 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TLR10 (GeneCards) |
| Number of variants in TLR10 in this database | 1 (view all the variants) |
| Full name | toll like receptor 10 |
| Band | 4p14 |
| Other IDs | Vega: OTTHUMG00000128578 OMIM: 606270 HGNC: HGNC:15634 Ensembl: ENSG00000174123 |
| Other names | CD290 |
| Summary | The protein encoded by this gene is a member of the Toll-like receptor (TLR) family which plays a fundamental role in pathogen recognition and activation of innate immunity. TLRs are highly conserved from Drosophila to humans and share structural and functional similarities. They recognize pathogen-associated molecular patterns (PAMPs) that are expressed on infectious agents, and mediate the production of cytokines necessary for the development of effective immunity. The various TLRs exhibit different patterns of expression. This gene is most highly expressed in lymphoid tissues such as spleen, lymph node, thymus, and tonsil. Multiple alternatively spliced transcript variants which encode different protein isoforms have been found for this gene. [provided by RefSeq, Aug 2010] |
| Individual ID | 28714951.345 (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; |