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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for B4GALT1 |
Basic gene info. | Gene symbol | B4GALT1 |
Gene name | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | |
Synonyms | B4GAL-T1|CDG2D|GGTB2|GT1|GTB|beta4Gal-T1 | |
Cytomap | UCSC genome browser: 9p13 | |
Genomic location | chr9 :33110638-33167356 | |
Type of gene | protein-coding | |
RefGenes | NM_001497.3, | |
Ensembl id | ENSG00000086062 | |
Description | UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 1UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 1beta-1,4-GalTase 1beta-1,4-galactosyltransferase 1glycoprotein-4-beta-galactosyltransferase 2lactose synthase | |
Modification date | 20141219 | |
dbXrefs | MIM : 137060 | |
HGNC : HGNC | ||
Ensembl : ENSG00000086062 | ||
HPRD : 00659 | ||
Vega : OTTHUMG00000019764 | ||
Protein | UniProt: P15291 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_B4GALT1 | |
BioGPS: 2683 | ||
Gene Expression Atlas: ENSG00000086062 | ||
The Human Protein Atlas: ENSG00000086062 | ||
Pathway | NCI Pathway Interaction Database: B4GALT1 | |
KEGG: B4GALT1 | ||
REACTOME: B4GALT1 | ||
ConsensusPathDB | ||
Pathway Commons: B4GALT1 | ||
Metabolism | MetaCyc: B4GALT1 | |
HUMANCyc: B4GALT1 | ||
Regulation | Ensembl's Regulation: ENSG00000086062 | |
miRBase: chr9 :33,110,638-33,167,356 | ||
TargetScan: NM_001497 | ||
cisRED: ENSG00000086062 | ||
Context | iHOP: B4GALT1 | |
cancer metabolism search in PubMed: B4GALT1 | ||
UCL Cancer Institute: B4GALT1 | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of B4GALT1 in cancer cell metabolism | 1. Ye Y, Zhou Y, Zhang L, Chen Y, Lyu X, et al. (2013) EBV-miR-BART1 is involved in regulating metabolism-associated genes in nasopharyngeal carcinoma. Biochem Biophys Res Commun 436: 19-24. doi: 10.1016/j.bbrc.2013.05.008. go to article |
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Phenotypic Information for B4GALT1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: B4GALT1 |
Familial Cancer Database: B4GALT1 |
* This gene is included in those cancer gene databases. |
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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KEGG_GALACTOSE_METABOLISM REACTOME_METABOLISM_OF_PROTEINS REACTOME_METABOLISM_OF_CARBOHYDRATES |
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OMIM | 137060; gene. 137060; gene. 607091; phenotype. 607091; phenotype. |
Orphanet | 79332; B4GALT1-CDG. 79332; B4GALT1-CDG. |
Disease | KEGG Disease: B4GALT1 |
MedGen: B4GALT1 (Human Medical Genetics with Condition) | |
ClinVar: B4GALT1 | |
Phenotype | MGI: B4GALT1 (International Mouse Phenotyping Consortium) |
PhenomicDB: B4GALT1 |
Mutations for B4GALT1 |
* 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 | B4GALT1 | chr9 | 33115775 | 33115795 | APTX | chr9 | 33000858 | 33000878 |
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 B4GALT1 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 |
EC510108 | NMRAL1 | 1 | 52 | 16 | 4513740 | 4513791 | B4GALT1 | 53 | 130 | 9 | 33111228 | 33111316 | |
AI955342 | B4GALT1 | 36 | 213 | 9 | 33110640 | 33110817 | NUDT8 | 214 | 366 | 11 | 67397225 | 67397377 | |
BE939488 | B4GALT1 | 27 | 211 | 9 | 33110725 | 33110908 | B4GALT1 | 207 | 266 | 9 | 33110918 | 33110977 | |
BE466056 | B4GALT1 | 1 | 61 | 9 | 33111195 | 33111254 | B4GALT1 | 56 | 310 | 9 | 33112106 | 33112360 |
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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 |   |   |   |   |   |   |   | 2 |   |   |   |   |   |   |   | 1 | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   | 2 |   |   |   |   |   |   |   | 1 | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
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=22) | (# total SNVs=6) |
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(# total SNVs=1) | (# 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 |
chr9:33166973-33166973 | p.N65N | 2 |
chr9:33113497-33113497 | p.Y384Y | 2 |
chr9:33135302-33135302 | p.V178G | 1 |
chr9:33113789-33113789 | p.N349N | 1 |
chr9:33166952-33166952 | p.Q72Q | 1 |
chr9:33120476-33120476 | p.A259A | 1 |
chr9:33135311-33135311 | p.P175H | 1 |
chr9:33113815-33113815 | p.I341V | 1 |
chr9:33120551-33120551 | p.E234D | 1 |
chr9:33135343-33135343 | p.G164G | 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 | 1 | 3 |   | 6 |   |   |   |   |   |   |   | 1 | 2 |   |   |   | 2 | 4 |   | 3 |
# mutation | 1 | 3 |   | 8 |   |   |   |   |   |   |   | 1 | 2 |   |   |   | 2 | 4 |   | 3 |
nonsynonymous SNV | 1 | 2 |   | 7 |   |   |   |   |   |   |   | 1 | 1 |   |   |   | 1 | 2 |   | 2 |
synonymous SNV |   | 1 |   | 1 |   |   |   |   |   |   |   |   | 1 |   |   |   | 1 | 2 |   | 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 |
chr9:33167076 | p.L292P | 1 |
chr9:33113820 | p.Q72Q | 1 |
chr9:33135286 | p.V271I | 1 |
chr9:33113830 | p.A31V | 1 |
chr9:33135287 | p.E234D | 1 |
chr9:33113848 | p.F232S | 1 |
chr9:33135343 | p.R224R | 1 |
chr9:33116030 | p.A217V | 1 |
chr9:33135352 | p.R185H | 1 |
chr9:33116073 | p.P183P | 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 B4GALT1 |
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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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B4GALT1,BAG1,CEACAM8,CHST1,CLIC6,ECT2L,ELOVL5, GHSR,HIGD1A,INSL4,KIAA0087,KSR1,NFX1,P2RX6P, PLD1,SCGB1D2,SCGB2A2,SLC6A9,SMU1,SPINK4,UBAP1 | ARF6,ARRDC3,B4GALT1,CHSY1,FAM60A,GNL3,MFSD6, NIP7,NOLC1,NOP58,NUFIP1,PPRC1,PVT1,QTRTD1, RAD18,RBM12,SRSF6,SH3BP4,SLC7A1,TEX10,WDR43 | ||||
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ARFGAP3,B4GALT1,C10orf54,MIR22HG,CCNG2,CD59,CDKN2B, ELL2,EMP1,EPAS1,GSN,IL4R,KIAA0247,FAM214B, LHFPL2,PDLIM5,SEC24A,SEC24D,SGMS2,TMEM127,UGCG | ATP2B1,B4GALT1,B4GALT5,DHRS9,DSC2,EHD4,FABP1, GPD2,HAS3,LANCL3,MAPRE3,MIER3,NT5C2,OXSR1, RNF6,SLC20A1,STK39,TMEM65,TMPRSS2,XIAP,YWHAB |
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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 B4GALT1 |
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DB Category | DB Name | DB's ID and Url link |
Chemistry | BindingDB | P15291; -. |
Chemistry | ChEMBL | CHEMBL4384; -. |
Chemistry | BindingDB | P15291; -. |
Chemistry | ChEMBL | CHEMBL4384; -. |
Organism-specific databases | PharmGKB | PA25223; -. |
Organism-specific databases | PharmGKB | PA25223; -. |
Organism-specific databases | CTD | 2683; -. |
Organism-specific databases | CTD | 2683; -. |
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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 |
DB00141 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | approved; nutraceutical | N-Acetyl-D-glucosamine | ![]() | ![]() |
DB02696 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | experimental | 6-Aminohexyl-Uridine-C1,5'-Diphosphate | ![]() | ![]() |
DB03013 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | experimental | Di(N-Acetyl-D-Glucosamine) | ![]() | ![]() |
DB03501 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | experimental | Uridine Diphosphate Galactose | ![]() | ![]() |
DB03685 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | experimental | Uridine-5'-Monophosphate | ![]() | ![]() |
DB03814 | UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 | experimental | 2-(N-Morpholino)-Ethanesulfonic Acid | ![]() | ![]() |
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Cross referenced IDs for B4GALT1 |
* 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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