| Variant ID | 4253 |
|---|---|
| Entrez Gene ID | 28951 |
| Gene | TRIB2 (GeneCards) |
| Location | hg19 2:13066743-13066743
hg38 2:12926617-12926617 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000002.11:g.13066743 T>A (Genome Assembly: GRCh37) |
| 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 | -0.2856 |
| CADD Raw score (version 1.3) | 0.286082 (Deleterious) |
| FATHMM raw prediction score | 0.07156 (Tolerated) |
| Deleterious probability by DeFine | 0.2154 (Neutral) |
| Entrez Gene ID | 28951 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TRIB2 (GeneCards) |
| Number of variants in TRIB2 in this database | 3 (view all the variants) |
| Full name | tribbles pseudokinase 2 |
| Band | 2p24.3 |
| Other IDs | Vega: OTTHUMG00000090575 OMIM: 609462 HGNC: HGNC:30809 Ensembl: ENSG00000071575 |
| Other names | C5FW, TRB2, GS3955 |
| Summary | This gene encodes one of three members of the Tribbles family. The Tribbles members share a Trb domain, which is homologous to protein serine-threonine kinases, but lacks the active site lysine and probably lacks a catalytic function. The Tribbles proteins interact and modulate the activity of signal transduction pathways in a number of physiological and pathological processes. This Tribbles member induces apoptosis of cells mainly of the hematopoietic origin. It has been identified as a protein up-regulated by inflammatory stimuli in myeloid (THP-1) cells, and also as an oncogene that inactivates the transcription factor C/EBPalpha (CCAAT/enhancer-binding protein alpha) and causes acute myelogenous leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009] |
| Individual ID | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |