HTLV1 Target gene Detail Information

> BCKDHB Gene Search Result


Gene Information
Gene Name BCKDHB
Gene ID 594
Gene Full Name branched chain keto acid dehydrogenase E1 subunit beta
Gene Alias BCKDE1B|BCKDH E1-beta|E1B|MSUD1B|OVD1B
Transcripts ENSG00000083123
Virus HTLV1
Gene Type protein-coding
HPA Location Info Mitochondria;Nucleoplasm, Nucleoli;
Membrane Info Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Uniport_ID P21953
HGNC ID HGNC:987
OMIM ID 248611
Summary This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Target gene [BCKDHB] related to VISs

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section


DVID Chromosome HM TFBS CA Sum of Overlapped Records Detail
6012021 chr6 24 0 0 24 View
6014223 chr6 4 0 13 17 View
6014899 chr6 4 1 10 15 View
6016804 chr6 11 0 0 11 View
6016825 chr6 11 0 0 11 View
6017013 chr6 2 8 1 11 View
6018393 chr6 5 4 0 9 View
6018483 chr6 1 1 7 9 View
6019360 chr6 6 1 1 8 View
6020025 chr6 5 1 1 7 View
6021277 chr6 3 3 0 6 View
6021889 chr6 2 3 0 5 View
6023650 chr6 3 1 0 4 View
6029350 chr6 1 0 0 1 View

Target gene [BCKDHB] related to Omics data
Data ID Experiment type Sample number Platform
GSE189602 Methylation profiling (Array) 4 Infinium MethylationEPIC
C
  GSE94732 		Chip-seq 24 Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens)
GSE52244 Expression array 15 [HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version]
GSE10789 Expression array 6 NCI/ATC Hs-OperonV3
GSE224047 RNA-seq 10 Illumina NextSeq 500 (Homo sapiens)
GSE168557 Expression array 6 Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version)
GSE136189 Methylation profiling (Array) 40 Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip


When the gene can detect a peak in the dataset, a peak plot will be displayed.


> Dataset: GSE94732 - BCKDHB peak across samples

Peak Plot