| Variant ID | 29625 |
|---|---|
| Entrez Gene ID | 5966 |
| Gene | REL (GeneCards) |
| Location | hg19 2:61145360-61145360
hg38 2:60918225-60918225 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000002.11:g.61145360 T>G (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5218 |
| CADD Raw score (version 1.3) | 0.683204 (Deleterious) |
| FATHMM raw prediction score | 0.97889 (Tolerated) |
| Deleterious probability by DeFine | 0.914 (Deleterious) |
| Entrez Gene ID | 5966 (NCBI Gene) |
|---|---|
| Official Gene Symbol | REL (GeneCards) |
| Number of variants in REL in this database | 1 (view all the variants) |
| Full name | REL proto-oncogene, NF-kB subunit |
| Band | 2p16.1 |
| Other IDs | Vega: OTTHUMG00000129418 OMIM: 164910 HGNC: HGNC:9954 Ensembl: ENSG00000162924 |
| Other names | C-Rel |
| Summary | This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014] |
| Individual ID | 28714951.301 (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; |