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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for B3GAT1 |
Basic gene info. | Gene symbol | B3GAT1 |
Gene name | beta-1,3-glucuronyltransferase 1 | |
Synonyms | CD57|GLCATP|GLCUATP|HNK1|LEU7|NK-1|NK1 | |
Cytomap | UCSC genome browser: 11q25 | |
Genomic location | chr11 :134248397-134281812 | |
Type of gene | protein-coding | |
RefGenes | NM_018644.3, NM_054025.2, | |
Ensembl id | ENSG00000109956 | |
Description | LEU7 antigenUDP-GlcUA:glycoprotein beta-1,3-glucuronyltransferasegalactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1glcUAT-Pglucuronosyltransferase P | |
Modification date | 20141207 | |
dbXrefs | MIM : 151290 | |
HGNC : HGNC | ||
Ensembl : ENSG00000109956 | ||
HPRD : 06969 | ||
Vega : OTTHUMG00000167180 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_B3GAT1 | |
BioGPS: 27087 | ||
Gene Expression Atlas: ENSG00000109956 | ||
The Human Protein Atlas: ENSG00000109956 | ||
Pathway | NCI Pathway Interaction Database: B3GAT1 | |
KEGG: B3GAT1 | ||
REACTOME: B3GAT1 | ||
ConsensusPathDB | ||
Pathway Commons: B3GAT1 | ||
Metabolism | MetaCyc: B3GAT1 | |
HUMANCyc: B3GAT1 | ||
Regulation | Ensembl's Regulation: ENSG00000109956 | |
miRBase: chr11 :134,248,397-134,281,812 | ||
TargetScan: NM_018644 | ||
cisRED: ENSG00000109956 | ||
Context | iHOP: B3GAT1 | |
cancer metabolism search in PubMed: B3GAT1 | ||
UCL Cancer Institute: B3GAT1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for B3GAT1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: B3GAT1 |
Familial Cancer Database: B3GAT1 |
* 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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REACTOME_METABOLISM_OF_CARBOHYDRATES |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: B3GAT1 |
MedGen: B3GAT1 (Human Medical Genetics with Condition) | |
ClinVar: B3GAT1 | |
Phenotype | MGI: B3GAT1 (International Mouse Phenotyping Consortium) |
PhenomicDB: B3GAT1 |
Mutations for B3GAT1 |
* 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 |
There's no inter-chromosomal structural variation. |
- 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 | B3GAT1 | chr11 | 134266378 | 134266398 | B3GAT1 | chr11 | 134269355 | 134269375 |
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 B3GAT1 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 |
T05978 | EFHC1 | 1 | 54 | 6 | 52285524 | 52285577 | B3GAT1 | 54 | 158 | 11 | 134259170 | 134259274 |
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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=44) | (# total SNVs=17) |
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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 |
chr11:134257523-134257523 | p.V11I | 4 |
chr11:134253884-134253884 | p.R104H | 3 |
chr11:134253821-134253821 | p.R125L | 2 |
chr11:134253972-134253972 | p.R75R | 2 |
chr11:134257501-134257501 | p.T18S | 2 |
chr11:134253993-134253993 | p.R68C | 2 |
chr11:134253872-134253872 | p.T108M | 2 |
chr11:134253790-134253790 | p.R135R | 2 |
chr11:134253791-134253791 | p.R135H | 2 |
chr11:134251844-134251844 | p.S331S | 2 |
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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 | 2 | 1 | 5 | 1 |   | 1 |   | 2 |   |   | 5 | 4 | 4 | 1 |   | 10 | 5 | 1 | 7 |
# mutation | 1 | 2 | 1 | 5 | 1 |   | 1 |   | 2 |   |   | 5 | 4 | 4 | 1 |   | 10 | 5 | 1 | 8 |
nonsynonymous SNV |   | 1 |   | 3 | 1 |   |   |   | 2 |   |   | 3 | 2 | 4 | 1 |   | 6 | 4 | 1 | 4 |
synonymous SNV | 1 | 1 | 1 | 2 |   |   | 1 |   |   |   |   | 2 | 2 |   |   |   | 4 | 1 |   | 4 |
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 |
chr11:134253993 | p.R68C,B3GAT1 | 2 |
chr11:134253791 | p.R135H,B3GAT1 | 2 |
chr11:134252867 | p.L294F,B3GAT1 | 1 |
chr11:134257524 | p.R159R,B3GAT1 | 1 |
chr11:134253751 | p.G280R,B3GAT1 | 1 |
chr11:134252640 | p.A158T,B3GAT1 | 1 |
chr11:134253972 | p.T58T,B3GAT1 | 1 |
chr11:134252868 | p.K274K,B3GAT1 | 1 |
chr11:134257541 | p.D157D,B3GAT1 | 1 |
chr11:134253790 | p.G50S,B3GAT1 | 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 B3GAT1 |
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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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AACS,ACSBG1,ACSM1,AKR1D1,B3GAT1,C6orf223,DDC, FCN2,GSTM5,GUSB,ISX,LOC91948,LST-3TM12,MYOM2, PNLIPRP3,RLN3,RNASE11,RNASE12,SCP2,SLCO1B1,SULT1C3 | ABCC2,ACSL3,ADAM2,AFMID,ALOX15B,B3GAT1,C6orf223, CPB2,DHRS2,GGT1,HMGCS1,HPGD,MPV17L,PNLIPRP3, MSMO1,SERHL2,SERHL,SLC5A11,SRD5A1,TARP,UGT2B28 | ||||
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APLP1,B3GAT1,CYP4F30P,CHRNB2,LBX1,LIN28A,LRTM2, NKX2-2,PCDHA1,PCDHB1,PIK3C2G,PRLHR,RFX6,RIMBP2, SCG2,SCRT1,SVOP,SYP,TECRL,UNC13A,VWA5B2 | ANKLE1,ANKRD44,B3GAT1,BMP7,RTP5,CSAG3,FCRLB, GGA2,KLHL14,KLK6,LOC150568,NLRP11,OR5B21,P2RX5, PARP15,PLA2G2D,POU3F1,RCSD1,SLC9A7,STRA6,TMEM163 |
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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 B3GAT1 |
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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 |
DB01694 | beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) | experimental | D-tartaric acid | ![]() | ![]() |
DB03435 | beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) | experimental | Uridine-5'-Diphosphate | ![]() | ![]() |
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Cross referenced IDs for B3GAT1 |
* 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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