mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for B4GALT7
Gene summary
Basic gene Info.Gene symbolB4GALT7
Gene namexylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
SynonymsEDSP1|XGALT1|XGPT1
CytomapUCSC genome browser: 5q35.2-q35.3
Type of geneprotein-coding
RefGenesNM_007255.2,
DescriptionUDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7beta-1,4-GalTase 7beta-1,4-galactosyltransferase 7beta-1,4-galactosyltransferase VIIbeta4Gal-T7beta4GalT-VIIgalactosyltransfe
Modification date20141215
dbXrefs MIM : 604327
HGNC : HGNC
Ensembl : ENSG00000027847
HPRD : 05060
Vega : OTTHUMG00000130851
ProteinUniProt: Q9UBV7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_B4GALT7
BioGPS: 11285
PathwayNCI Pathway Interaction Database: B4GALT7
KEGG: B4GALT7
REACTOME: B4GALT7
Pathway Commons: B4GALT7
ContextiHOP: B4GALT7
ligand binding site mutation search in PubMed: B4GALT7
UCL Cancer Institute: B4GALT7
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006024glycosaminoglycan biosynthetic process10438455
GO:0006487protein N-linked glycosylation24052259


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Ligand binding site mutations for B4GALT7

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
H257R256HSTAD1
R104E106KUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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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Protein structure related information for B4GALT7
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
H257R256H-1.0176896
R104E106K-0.069398583
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for B4GALT7 from PDB

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Differential gene expression and gene-gene network for B4GALT7
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of B4GALT7 and the right PPI network was created from samples without mutations in the LBS of B4GALT7. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for B4GALT7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1869122Ehlers-Danlos syndrome, progeroid form3Biomarker, GeneticVariation
umls:C0376634Craniofacial Abnormalities1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for B4GALT7
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of B4GALT7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MNMANGANESE(2+)4irpAH257
MNMANGANESE(2+)4irpBH257
MNMANGANESE(2+)4irqAH257
MNMANGANESE(2+)4irqBH257
MNMANGANESE(2+)4irqCH257
MNMANGANESE(2+)4irqDH257
UDPURIDINE-DIPHOSPHATE4irpAR104
UDPURIDINE-DIPHOSPHATE4irpBR104
UDPURIDINE-DIPHOSPHATE4irqAR104 H257
UDPURIDINE-DIPHOSPHATE4irqBR104 H257
UDPURIDINE-DIPHOSPHATE4irqCR104 H257
UDPURIDINE-DIPHOSPHATE4irqDR104 H257


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Conservation information for LBS of B4GALT7
Multiple alignments for Q9UBV7 in multiple species
LBSAA sequence# speciesSpecies
D163YIAMHDVDLLP2Homo sapiens, Mus musculus
D163YMVMNDVDLLP1Caenorhabditis elegans
D165AMHDVDLLPLN2Homo sapiens, Mus musculus
D165VMNDVDLLPVN1Caenorhabditis elegans
F101AVLVPFRERFE2Homo sapiens, Mus musculus
F101CVIVPYRDRLE1Caenorhabditis elegans
F139VDHFRFNRAAL2Homo sapiens, Mus musculus
F139TDPLRFNRASL1Caenorhabditis elegans
H257YKTFRHLHDPA1Homo sapiens
H257YQTFRHLHDPA1Mus musculus
H257SNTFRHIHGPK1Caenorhabditis elegans
H259TFRHLHDPAWR2Homo sapiens, Mus musculus
H259TFRHIHGPK-R1Caenorhabditis elegans
P100LAVLVPFRERF2Homo sapiens, Mus musculus
P100LCVIVPYRDRL1Caenorhabditis elegans
R102VLVPFRERFEE2Homo sapiens, Mus musculus
R102VIVPYRDRLEE1Caenorhabditis elegans
R104VPFRERFEELL2Homo sapiens, Mus musculus
R104VPYRDRLEELR1Caenorhabditis elegans
R266PAWRKRD---Q2Homo sapiens, Mus musculus
R266PK-RKRDYTPK1Caenorhabditis elegans
V164IAMHDVDLLPL2Homo sapiens, Mus musculus
V164MVMNDVDLLPV1Caenorhabditis elegans
W224NRFWGWGREDD2Homo sapiens, Mus musculus
W224NKYWGWGLEDD1Caenorhabditis elegans
Y194ELHPLYHYKTY2Homo sapiens, Mus musculus
Y194QYHPKYHYEKF1Caenorhabditis elegans


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