| Variant ID | 29404 |
|---|---|
| Entrez Gene ID | 8794 |
| Gene | TNFRSF10C (GeneCards) |
| Location | hg19 8:22974315-22974315
hg38 8:23116802-23116802 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000008.10:g.22974315 A>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 | 146364022 |
| MAF in gnomAD genome (version 2.0.1) | 0.0029 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs61736405 |
| Variant IDs in COSMIC (version 89) | 226624 |
| Variant occurences in COSMIC | 1(haematopoietic_and_lymphoid_tissue)|1(liver)|1(skin)|1(prostate)|1(eye)|2(large_intestine) |
| EIGEN score | -1.0933 |
| CADD Raw score (version 1.3) | 1.21721 (Deleterious) |
| FATHMM raw prediction score | 0.00237 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0.164 |
| MutationTaster score | 0.999 (Tolerated) |
| MutatioinAssessor score | 0 (Tolerated) |
| PROVEAN score | -0.1 (Tolerated) |
| MetaSVM score | -1.046 (Tolerated) |
| MetaLR score | 0.07 (Tolerated) |
| MCAP score | 0.006 (Tolerated) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.045 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 2.841 |
| Deleterious probability by iFish2 | 0.0872 (Neutral) |
| Deleterious probability by DeFine | 0.1428 (Neutral) |
| Entrez Gene ID | 8794 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNFRSF10C (GeneCards) |
| Number of variants in TNFRSF10C in this database | 1 (view all the variants) |
| Full name | TNF receptor superfamily member 10c |
| Band | 8p21.3 |
| Other IDs | Vega: OTTHUMG00000097844 OMIM: 603613 HGNC: HGNC:11906 Ensembl: ENSG00000173535 |
| Other names | LIT, DCR1, TRID, CD263, TRAILR3, TRAIL-R3, DCR1-TNFR |
| Summary | The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.80 (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; |