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mutLBSgeneDB |
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| Gene summary for B4GALT7 |
 Gene summary |
| Basic gene Info. | Gene symbol | B4GALT7 |
| Gene name | xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 | |
| Synonyms | EDSP1|XGALT1|XGPT1 | |
| Cytomap | UCSC genome browser: 5q35.2-q35.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_007255.2, | |
| Description | UDP-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 date | 20141215 | |
| dbXrefs | MIM : 604327 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000027847 | ||
| HPRD : 05060 | ||
| Vega : OTTHUMG00000130851 | ||
| Protein | UniProt: Q9UBV7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_B4GALT7 | |
| BioGPS: 11285 | ||
| Pathway | NCI Pathway Interaction Database: B4GALT7 | |
| KEGG: B4GALT7 | ||
| REACTOME: B4GALT7 | ||
| Pathway Commons: B4GALT7 | ||
| Context | iHOP: B4GALT7 | |
| ligand binding site mutation search in PubMed: B4GALT7 | ||
| UCL Cancer Institute: B4GALT7 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006024 | glycosaminoglycan biosynthetic process | 10438455 | GO:0006487 | protein N-linked glycosylation | 24052259 |
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| Ligand binding site mutations for B4GALT7 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | H257 | R256H | STAD | 1 | R104 | E106K | UCEC | 1 |
| 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | H257 | R256H | -1.0176896 | R104 | E106K | -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) |
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| Phenotype information for B4GALT7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1869122 | Ehlers-Danlos syndrome, progeroid form | 3 | Biomarker, GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of B4GALT7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 4irp | A | H257 | MN | MANGANESE(2+) | 4irp | B | H257 | MN | MANGANESE(2+) | 4irq | A | H257 | MN | MANGANESE(2+) | 4irq | B | H257 | MN | MANGANESE(2+) | 4irq | C | H257 | MN | MANGANESE(2+) | 4irq | D | H257 | UDP | URIDINE-DIPHOSPHATE | 4irp | A | R104 | UDP | URIDINE-DIPHOSPHATE | 4irp | B | R104 | UDP | URIDINE-DIPHOSPHATE | 4irq | A | R104 H257 | UDP | URIDINE-DIPHOSPHATE | 4irq | B | R104 H257 | UDP | URIDINE-DIPHOSPHATE | 4irq | C | R104 H257 | UDP | URIDINE-DIPHOSPHATE | 4irq | D | R104 H257 |
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| Conservation information for LBS of B4GALT7 |
| Multiple alignments for Q9UBV7 in multiple species |
| LBS | AA sequence | # species | Species | D163 | YIAMHDVDLLP | 2 | Homo sapiens, Mus musculus | D163 | YMVMNDVDLLP | 1 | Caenorhabditis elegans | D165 | AMHDVDLLPLN | 2 | Homo sapiens, Mus musculus | D165 | VMNDVDLLPVN | 1 | Caenorhabditis elegans | F101 | AVLVPFRERFE | 2 | Homo sapiens, Mus musculus | F101 | CVIVPYRDRLE | 1 | Caenorhabditis elegans | F139 | VDHFRFNRAAL | 2 | Homo sapiens, Mus musculus | F139 | TDPLRFNRASL | 1 | Caenorhabditis elegans | H257 | YKTFRHLHDPA | 1 | Homo sapiens | H257 | YQTFRHLHDPA | 1 | Mus musculus | H257 | SNTFRHIHGPK | 1 | Caenorhabditis elegans | H259 | TFRHLHDPAWR | 2 | Homo sapiens, Mus musculus | H259 | TFRHIHGPK-R | 1 | Caenorhabditis elegans | P100 | LAVLVPFRERF | 2 | Homo sapiens, Mus musculus | P100 | LCVIVPYRDRL | 1 | Caenorhabditis elegans | R102 | VLVPFRERFEE | 2 | Homo sapiens, Mus musculus | R102 | VIVPYRDRLEE | 1 | Caenorhabditis elegans | R104 | VPFRERFEELL | 2 | Homo sapiens, Mus musculus | R104 | VPYRDRLEELR | 1 | Caenorhabditis elegans | R266 | PAWRKRD---Q | 2 | Homo sapiens, Mus musculus | R266 | PK-RKRDYTPK | 1 | Caenorhabditis elegans | V164 | IAMHDVDLLPL | 2 | Homo sapiens, Mus musculus | V164 | MVMNDVDLLPV | 1 | Caenorhabditis elegans | W224 | NRFWGWGREDD | 2 | Homo sapiens, Mus musculus | W224 | NKYWGWGLEDD | 1 | Caenorhabditis elegans | Y194 | ELHPLYHYKTY | 2 | Homo sapiens, Mus musculus | Y194 | QYHPKYHYEKF | 1 | Caenorhabditis elegans |
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