MosaicBase

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	-0.3444
CADD Raw score (version 1.3)	-0.385811 (Deleterious)
FATHMM raw prediction score	0.08921 (Tolerated)
Deleterious probability by DeFine	0.176 (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]

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;