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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for BBOX1 |
Basic gene info. | 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 | |
Genomic location | chr11 :27062508-27149354 | |
Type of gene | protein-coding | |
RefGenes | NM_003986.2, | |
Ensembl id | ENSG00000129151 | |
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 | ||
Gene Expression Atlas: ENSG00000129151 | ||
The Human Protein Atlas: ENSG00000129151 | ||
Pathway | NCI Pathway Interaction Database: BBOX1 | |
KEGG: BBOX1 | ||
REACTOME: BBOX1 | ||
ConsensusPathDB | ||
Pathway Commons: BBOX1 | ||
Metabolism | MetaCyc: BBOX1 | |
HUMANCyc: BBOX1 | ||
Regulation | Ensembl's Regulation: ENSG00000129151 | |
miRBase: chr11 :27,062,508-27,149,354 | ||
TargetScan: NM_003986 | ||
cisRED: ENSG00000129151 | ||
Context | iHOP: BBOX1 | |
cancer metabolism search in PubMed: BBOX1 | ||
UCL Cancer Institute: BBOX1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for BBOX1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: BBOX1 |
Familial Cancer Database: BBOX1 |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
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REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: BBOX1 |
MedGen: BBOX1 (Human Medical Genetics with Condition) | |
ClinVar: BBOX1 | |
Phenotype | MGI: BBOX1 (International Mouse Phenotyping Consortium) |
PhenomicDB: BBOX1 |
Mutations for BBOX1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | BBOX1 | chr11 | 27062746 | 27062766 | CD300E | chr17 | 72618661 | 72618681 |
ovary | BBOX1 | chr11 | 27123872 | 27123892 | chr11 | 26207039 | 26207059 | |
pancreas | BBOX1 | chr11 | 27072869 | 27072889 | BBOX1 | chr11 | 27074711 | 27074731 |
pancreas | BBOX1 | chr11 | 27080800 | 27080820 | BBOX1 | chr11 | 27083039 | 27083059 |
pancreas | BBOX1 | chr11 | 27096086 | 27096106 | BBOX1 | chr11 | 27074774 | 27074794 |
pancreas | BBOX1 | chr11 | 27122963 | 27122983 | BBOX1 | chr11 | 27124483 | 27124503 |
pancreas | BBOX1 | chr11 | 27127774 | 27127974 | chr11 | 27177551 | 27177751 | |
pancreas | BBOX1 | chr11 | 27141989 | 27142009 | LGR4 | chr11 | 27425891 | 27425911 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows BBOX1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
BF750399 | BBOX1 | 1 | 196 | 11 | 27113989 | 27114184 | KLK7 | 193 | 305 | 19 | 51483708 | 51485099 | |
AW798404 | BBOX1 | 76 | 103 | 11 | 27089771 | 27089800 | FOS | 101 | 224 | 14 | 75748601 | 75748724 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   | 1 |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   | 1 |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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Stat. for Non-Synonymous SNVs (# total SNVs=35) | (# total SNVs=9) |
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(# total SNVs=0) | (# total SNVs=0) |
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* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr11:27114788-27114788 | p.H136H | 3 |
chr11:27148884-27148884 | p.R350C | 2 |
chr11:27148982-27148982 | p.R382R | 2 |
chr11:27078827-27078827 | p.A100D | 2 |
chr11:27114906-27114906 | p.F176V | 2 |
chr11:27137012-27137012 | p.V183M | 2 |
chr11:27114762-27114762 | p.E128K | 1 |
chr11:27148880-27148880 | p.G348G | 1 |
chr11:27077035-27077035 | p.L20F | 1 |
chr11:27141233-27141233 | p.G226V | 1 |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 2 | 1 | 1 | 6 | 1 |   | 2 |   | 1 |   |   | 7 | 3 |   |   |   | 6 | 3 |   | 2 |
# mutation | 2 | 1 | 2 | 5 | 1 |   | 2 |   | 2 |   |   | 7 | 3 |   |   |   | 6 | 3 |   | 2 |
nonsynonymous SNV | 1 |   | 2 | 4 |   |   | 1 |   | 2 |   |   | 6 | 2 |   |   |   | 3 | 2 |   | 1 |
synonymous SNV | 1 | 1 |   | 1 | 1 |   | 1 |   |   |   |   | 1 | 1 |   |   |   | 3 | 1 |   | 1 |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr11:27148982 | p.R382R | 2 |
chr11:27114906 | p.F176V | 2 |
chr11:27147256 | p.L34L | 1 |
chr11:27077077 | p.Q250K | 1 |
chr11:27114876 | p.D59H | 1 |
chr11:27147268 | p.V271V | 1 |
chr11:27077152 | p.E384K | 1 |
chr11:27148986 | p.V60V | 1 |
chr11:27147273 | p.K274K | 1 |
chr11:27077157 | p.I64M | 1 |
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* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for BBOX1 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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ANXA1,BBOX1,CEBPB,CFI,CHI3L1,CNTNAP3,DEFB1, CCDC71L,GABRP,HAPLN3,LYN,MOB3B,MPZL2,PAK3, PLCG2,PROM1,RARRES1,TANK,TIGD2,TINAGL1,TLR2 | ALDH1A3,ARFGAP3,BBOX1,PLEKHS1,EVA1C,CA13,CDCP1, CMTM7,CXCL16,GRAMD2,LOC100190939,LRRC4C,LTF,PROM1, RARRES1,RASGEF1A,SLC34A2,SLPI,STAC2,TC2N,VGLL1 | ||||
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ANGPTL5,BBOX1,C17orf78,CALCB,CLDN22,CYP17A1,CYP7A1, EPB42,GLIPR1,HSD17B13,INSC,LBP,MRAP,NLRP6, PTCHD3,SERPINE3,SLC7A9,SPAM1,TAAR1,TBX3,TMEM229A | ACADL,BBOX1,LINC00301,C1orf194,C1QL1,FAM228A,CLPSL2, SPATA31D1,GLYAT,GTF2A1L,IFNA2,KLHDC8A,MGC2889,OR52D1, PCDHB18,S100G,SCN1A,TAAR8,TF,USP17L9P,WSCD2 |
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* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Pharmacological Information for BBOX1 |
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DB Category | DB Name | DB's ID and Url link |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00126 | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 | approved; nutraceutical | Vitamin C | ![]() | ![]() |
DB00139 | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 | approved; nutraceutical | Succinic acid | ![]() | ![]() |
DB00145 | butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 | approved; nutraceutical | Glycine | ![]() | ![]() |
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Cross referenced IDs for BBOX1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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