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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for BBOX1
check button Gene summary
Basic gene informationGene symbolBBOX1
Gene namebutyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
SynonymsBBH|BBOX|G-BBH|gamma-BBH
CytomapUCSC genome browser: 11p14.2
Type of geneprotein-coding
RefGenesNM_003986.2,
Descriptiongamma-butyrobetaine dioxygenasegamma-butyrobetaine hydroxylasegamma-butyrobetaine,2-oxoglutarate dioxygenase 1
Modification date20141207
dbXrefs MIM : 603312
HGNC : HGNC
Ensembl : ENSG00000129151
HPRD : 04498
Vega : OTTHUMG00000166121
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BBOX1
BioGPS: 8424
PathwayNCI Pathway Interaction Database: BBOX1
KEGG: BBOX1
REACTOME: BBOX1
Pathway Commons: BBOX1
ContextiHOP: BBOX1
ligand binding site mutation search in PubMed: BBOX1
UCL Cancer Institute: BBOX1
Assigned class in TissGDB*A
Included tissue-specific gene expression resourcesHPA,TiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)Kidney
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)KIRC,KIRP,KICH
Reference showing the relevant tissue of BBOX1Genomic structure, alternative maturation and tissue expression of the human BBOX1 gene. Rigault C, Le Borgne F, Demarquoy J. Biochim Biophys Acta. 2006 Dec;1761(12):1469-81. Epub 2006 Oct 4. (pmid:17110165)
go to article
Description by TissGene annotationsRisk TissGene in OS
Fused withOncogene
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0045329carnitine biosynthetic process20599753
GO:0045329carnitine biosynthetic process20599753


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TissGeneExp for BBOX1

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
BRCA0.0819761343.829176134-3.74724.32E-244.04E-23
LIHC2.0747588365.403112836-3.3283543.07E-103.73E-09
LUSC0.387500953-1.551006891.9385078431.02E-072.86E-07
KICH-2.0919811645.794098836-7.886083.76E-171.48E-15
THCA1.6710780223.314339039-1.6432610173.06E-081.43E-07
KIRP5.3601287116.967578711-1.607450.005290.012393083
PRAD-1.724833549-0.678431626-1.0464019230.0006110.002080929


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TissGene-miRNA for BBOX1

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for BBOX1
TissGeneSNV for BBOX1

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.P246SSKCM2
p.D157EBLCA1
p.R344CUVM1
p.T298SLUAD1
p.G154ABLCA1
p.D23NSKCM1
p.A312DKIRC1
p.R349QLUSC1
p.R296KSKCM1
p.G13WHNSC1
p.L53FSKCM1
p.G166RSKCM1
p.W33XSKCM1
p.R288HESCA1
p.L144ILUAD1
p.S253YLUAD1
p.D42GESCA1
p.E325KSKCM1
p.R382SHNSC1
p.F176VREAD1
p.V214ACOAD1
p.E107KSKCM1
p.R350CSTAD1
p.G154RSKCM1
p.A312VTHYM1
p.W369CSARC1
p.S326CCESC1
p.Q250KLUAD1
p.R106KSKCM1
p.L376FUCEC1
p.D59HLUSC1
p.E81KLUAD1
p.A155TMESO1
p.T143NLUAD1
p.W33*SKCM1
p.V318LLUAD1
p.D188HCESC1
p.G154ESKCM1
p.D204NCESC1
p.R101TBLCA1
p.V302LLUAD1
p.E128KLIHC1
p.E128KLUAD1
p.G66SSKCM1
p.E384KBLCA1
p.A312SKIRC1
p.R350GSTAD1
p.R344CCOAD1
p.E25GSARC1
p.A155GLUAD1
p.D126NSKCM1
p.K139XLIHC1
p.L20FSKCM1
p.E85KLUAD1
p.L34*PRAD1
p.R168KSARC1
p.G166WSTAD1
p.L34XPRAD1
p.A189ELIHC1


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TissGeneCNV for BBOX1

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for BBOX1

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0ChiTaRsNABF750399BBOX1-KLK7chr11:27114184chr19:51483708
Chimerdb3.0ChiTaRsNAAW798404BBOX1-FOSchr11:27089800chr14:75748601
Chimerdb3.0FusionScanSARCTCGA-VT-A80J-01APPFIA1-BBOX1In-Framechr11:70202360chr11:27136998
TCGAfusionPortalPRADALGGTCGA-FG-5963-01ACELF1-BBOX1NAChr11:47586826Chr11:27141196


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TissGeneNet for BBOX1

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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COAD (tumor)COAD (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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HNSC (tumor)HNSC (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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KICH (tumor)KICH (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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KIRC (tumor)KIRC (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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KIRP (tumor)KIRP (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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LIHC (tumor)LIHC (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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LUAD (tumor)LUAD (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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LUSC (tumor)LUSC (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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PRAD (tumor)PRAD (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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STAD (tumor)STAD (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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THCA (tumor)THCA (normal)
BBOX1, HSPB3 (tumor)BBOX1, HSPB3 (normal)
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TissGeneProg for BBOX1

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for BBOX1
TissGeneDrug for BBOX1

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status
DB00139Succinic acidSmall moleculeApproved|Nutraceutical


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TissGeneDisease for BBOX1

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0040336Tobacco Use Disorder1GAD