| Variant ID | 29326 |
|---|---|
| Entrez Gene ID | 943 |
| Gene | TNFRSF8 (GeneCards) |
| Location | hg19 1:12175787-12175787
hg38 1:12115730-12115730 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.12175787 G>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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7879 |
| CADD Raw score (version 1.3) | 3.270061 (Deleterious) |
| FATHMM raw prediction score | 0.97357 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.257 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.73 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.424 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.227 |
| Deleterious probability by DeFine | 0.9227 (Deleterious) |
| Entrez Gene ID | 943 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TNFRSF8 (GeneCards) |
| Number of variants in TNFRSF8 in this database | 1 (view all the variants) |
| Full name | TNF receptor superfamily member 8 |
| Band | 1p36.22 |
| Other IDs | Vega: OTTHUMG00000001827 OMIM: 153243 HGNC: HGNC:11923 Ensembl: ENSG00000120949 |
| Other names | CD30, Ki-1, D1S166E |
| Summary | The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is expressed by activated, but not by resting, T and B cells. TRAF2 and TRAF5 can interact with this receptor, and mediate the signal transduction that leads to the activation of NF-kappaB. This receptor is a positive regulator of apoptosis, and also has been shown to limit the proliferative potential of autoreactive CD8 effector T cells and protect the body against autoimmunity. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.02 (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; |