TissGeneSummary for BBOX1 |
Gene summary |
Basic gene information | Gene symbol | BBOX1 |
Gene name | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 | |
Synonyms | BBH|BBOX|G-BBH|gamma-BBH | |
Cytomap | UCSC genome browser: 11p14.2 | |
Type of gene | protein-coding | |
RefGenes | NM_003986.2, | |
Description | gamma-butyrobetaine dioxygenasegamma-butyrobetaine hydroxylasegamma-butyrobetaine,2-oxoglutarate dioxygenase 1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 603312 | |
HGNC : HGNC | ||
Ensembl : ENSG00000129151 | ||
HPRD : 04498 | ||
Vega : OTTHUMG00000166121 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_BBOX1 | |
BioGPS: 8424 | ||
Pathway | NCI Pathway Interaction Database: BBOX1 | |
KEGG: BBOX1 | ||
REACTOME: BBOX1 | ||
Pathway Commons: BBOX1 | ||
Context | iHOP: BBOX1 | |
ligand binding site mutation search in PubMed: BBOX1 | ||
UCL Cancer Institute: BBOX1 | ||
Assigned class in TissGDB* | A | |
Included tissue-specific gene expression resources | HPA,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 BBOX1 | Genomic 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 annotations | Risk 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. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0045329 | carnitine biosynthetic process | 20599753 | GO:0045329 | carnitine biosynthetic process | 20599753 |
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TissGeneExp for BBOX1 |
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 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 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. |
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) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
BRCA | 0.081976134 | 3.829176134 | -3.7472 | 4.32E-24 | 4.04E-23 |
LIHC | 2.074758836 | 5.403112836 | -3.328354 | 3.07E-10 | 3.73E-09 |
LUSC | 0.387500953 | -1.55100689 | 1.938507843 | 1.02E-07 | 2.86E-07 |
KICH | -2.091981164 | 5.794098836 | -7.88608 | 3.76E-17 | 1.48E-15 |
THCA | 1.671078022 | 3.314339039 | -1.643261017 | 3.06E-08 | 1.43E-07 |
KIRP | 5.360128711 | 6.967578711 | -1.60745 | 0.00529 | 0.012393083 |
PRAD | -1.724833549 | -0.678431626 | -1.046401923 | 0.000611 | 0.002080929 |
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TissGene-miRNA for BBOX1 |
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 type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for BBOX1 |
TissGeneSNV for BBOX1 |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.P246S | SKCM | 2 |
p.D157E | BLCA | 1 |
p.R344C | UVM | 1 |
p.T298S | LUAD | 1 |
p.G154A | BLCA | 1 |
p.D23N | SKCM | 1 |
p.A312D | KIRC | 1 |
p.R349Q | LUSC | 1 |
p.R296K | SKCM | 1 |
p.G13W | HNSC | 1 |
p.L53F | SKCM | 1 |
p.G166R | SKCM | 1 |
p.W33X | SKCM | 1 |
p.R288H | ESCA | 1 |
p.L144I | LUAD | 1 |
p.S253Y | LUAD | 1 |
p.D42G | ESCA | 1 |
p.E325K | SKCM | 1 |
p.R382S | HNSC | 1 |
p.F176V | READ | 1 |
p.V214A | COAD | 1 |
p.E107K | SKCM | 1 |
p.R350C | STAD | 1 |
p.G154R | SKCM | 1 |
p.A312V | THYM | 1 |
p.W369C | SARC | 1 |
p.S326C | CESC | 1 |
p.Q250K | LUAD | 1 |
p.R106K | SKCM | 1 |
p.L376F | UCEC | 1 |
p.D59H | LUSC | 1 |
p.E81K | LUAD | 1 |
p.A155T | MESO | 1 |
p.T143N | LUAD | 1 |
p.W33* | SKCM | 1 |
p.V318L | LUAD | 1 |
p.D188H | CESC | 1 |
p.G154E | SKCM | 1 |
p.D204N | CESC | 1 |
p.R101T | BLCA | 1 |
p.V302L | LUAD | 1 |
p.E128K | LIHC | 1 |
p.E128K | LUAD | 1 |
p.G66S | SKCM | 1 |
p.E384K | BLCA | 1 |
p.A312S | KIRC | 1 |
p.R350G | STAD | 1 |
p.R344C | COAD | 1 |
p.E25G | SARC | 1 |
p.A155G | LUAD | 1 |
p.D126N | SKCM | 1 |
p.K139X | LIHC | 1 |
p.L20F | SKCM | 1 |
p.E85K | LUAD | 1 |
p.L34* | PRAD | 1 |
p.R168K | SARC | 1 |
p.G166W | STAD | 1 |
p.L34X | PRAD | 1 |
p.A189E | LIHC | 1 |
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TissGeneCNV for BBOX1 |
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) |
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TissGeneFusions for BBOX1 |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | ChiTaRs | NA | BF750399 | BBOX1-KLK7 | chr11:27114184 | chr19:51483708 | |
Chimerdb3.0 | ChiTaRs | NA | AW798404 | BBOX1-FOS | chr11:27089800 | chr14:75748601 | |
Chimerdb3.0 | FusionScan | SARC | TCGA-VT-A80J-01A | PPFIA1-BBOX1 | In-Frame | chr11:70202360 | chr11:27136998 |
TCGAfusionPortal | PRADA | LGG | TCGA-FG-5963-01A | CELF1-BBOX1 | NA | Chr11:47586826 | Chr11:27141196 |
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TissGeneNet for BBOX1 |
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) |
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TissGeneProg for BBOX1 |
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. |
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. |
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. |
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. |
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TissGeneClin for BBOX1 |
TissGeneDrug for BBOX1 |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
DB00139 | Succinic acid | Small molecule | Approved|Nutraceutical |
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TissGeneDisease for BBOX1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |