mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 GYG1
Gene summary
Basic gene Info.Gene symbolGYG1
Gene nameglycogenin 1
SynonymsGSD15|GYG
CytomapUCSC genome browser: 3q24-q25.1
Type of geneprotein-coding
RefGenesNM_001184720.1,
NM_001184721.1,NM_004130.3,
DescriptionGN-1glycogenin glucosyltransferaseglycogenin-1
Modification date20141207
dbXrefs MIM : 603942
HGNC : HGNC
Ensembl : ENSG00000163754
HPRD : 06805
Vega : OTTHUMG00000159533
ProteinUniProt: P46976
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GYG1
BioGPS: 2992
PathwayNCI Pathway Interaction Database: GYG1
KEGG: GYG1
REACTOME: GYG1
Pathway Commons: GYG1
ContextiHOP: GYG1
ligand binding site mutation search in PubMed: GYG1
UCL Cancer Institute: GYG1
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


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Ligand binding site mutations for GYG1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
K86T85AHNSC1
Y197P199QLUAD1
G127G127ALUSC1
Q164I166TSTAD1
D102F100CSTAD1
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 GYG1
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
Q164I166T-1.4058271
G127G127A-1.1670211
K86T85A-0.8858315
D102F100C-0.68184045
Y197P199Q-0.67694135
(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 GYG1 from PDB

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Differential gene expression and gene-gene network for GYG1
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 GYG1 and the right PPI network was created from samples without mutations in the LBS of GYG1. 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 GYG1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0017919Glycogen Storage Disease3Biomarker
umls:C3150754GLYCOGEN STORAGE DISEASE XV1Biomarker, GeneticVariation
umls:C0003811Arrhythmias, Cardiac1Biomarker
umls:C0151786Muscle Weakness1Biomarker
umls:C0151744Myocardial Ischemia1Biomarker

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

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Pharmacological information for GYG1
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB03435Uridine-5'-DiphosphateSmall molecule
ExperimentalDB04355Uridine-5'-Monophosphate Glucopyranosyl-MonophosphateesterSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of GYG1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MNMANGANESE(2+)3qvbAD102
UDPURIDINE-DIPHOSPHATE3qvbAD102
MNMANGANESE(2+)3rmvAD102
UDPURIDINE-DIPHOSPHATE3rmvAD102
MNMANGANESE(2+)3rmwAD102
MNMANGANESE(2+)3t7mAD102
UDPURIDINE-DIPHOSPHATE3t7mAD102
MNMANGANESE(2+)3t7mBD102
UDPURIDINE-DIPHOSPHATE3t7mBD102
MNMANGANESE(2+)3t7nAD102
UDPURIDINE-DIPHOSPHATE3t7nAD102
MNMANGANESE(2+)3t7nBD102
UDPURIDINE-DIPHOSPHATE3t7nBD102
MNMANGANESE(2+)3t7oAD102
MNMANGANESE(2+)3t7oBD102
MNMANGANESE(2+)3u2tAD102
MNMANGANESE(2+)3u2uAD102
UDPURIDINE-DIPHOSPHATE3u2uAD102
MNMANGANESE(2+)3u2uBD102
UDPURIDINE-DIPHOSPHATE3u2uBD102
MNMANGANESE(2+)3u2vAD102
UDPURIDINE-DIPHOSPHATE3u2vAD102
MNMANGANESE(2+)3u2vBD102
UDPURIDINE-DIPHOSPHATE3u2vBD102
MNMANGANESE(2+)3u2wAD102
UDPURIDINE-DIPHOSPHATE3u2wAD102
MNMANGANESE(2+)3u2wBD102
UDPURIDINE-DIPHOSPHATE3u2wBD102
MNMANGANESE(2+)3u2xAD102
UDPURIDINE-DIPHOSPHATE3u2xAD102
MNMANGANESE(2+)3u2xBD102
UDPURIDINE-DIPHOSPHATE3u2xBD102
UPGUDP-GLUCOSE3rmwAD102 Q164
GLCALPHA-D-GLUCOSE3u2vAG127 Q164
GLCALPHA-D-GLUCOSE3u2vBG127 Q164
UPGUDP-GLUCOSE3t7oAK86 D102 Q164
UPGUDP-GLUCOSE3t7oBK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2uAK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2uBK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2vAK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2vBK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2wAK86 D102 Q164
GLCALPHA-D-GLUCOSE3u2wBK86 D102 Q164
ASO1,5-ANHYDRO-D-GLUCITOL3u2xAK86 D102 Q164
ASO1,5-ANHYDRO-D-GLUCITOL3u2xBK86 D102 Q164
LCN1,5-ANHYDRO-D-ARABINO-HEX-1-ENITOL3u2wAK86 Q164
GLCALPHA-D-GLUCOSE3t7oAQ164
GLCALPHA-D-GLUCOSE3u2uAQ164
GLCALPHA-D-GLUCOSE3u2uBQ164
GLCALPHA-D-GLUCOSE3u2uAY197


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Conservation information for LBS of GYG1
Multiple alignments for P46976 in multiple species
LBSAA sequence# speciesSpecies
A103CVFMDADTLVL3Homo sapiens, Mus musculus, Rattus norvegicus
D102KCVFMDADTLV3Homo sapiens, Mus musculus, Rattus norvegicus
D104VFMDADTLVLS2Mus musculus, Rattus norvegicus
D104VFMDADTLVLA1Homo sapiens
D125LSAAPDPGWPD3Homo sapiens, Mus musculus, Rattus norvegicus
D160EQGSFDGGDQG3Homo sapiens, Mus musculus, Rattus norvegicus
D163SFDGGDQGLLN2Mus musculus, Rattus norvegicus
D163SFDGGDQGILN1Homo sapiens
E155LHLASEQGSFD3Homo sapiens, Mus musculus, Rattus norvegicus
E79LMKRPELGITL2Mus musculus, Rattus norvegicus
E79LMKRPELGVTL1Homo sapiens
G127AAPDPGWPDCF3Homo sapiens, Mus musculus, Rattus norvegicus
G135DCFNSGVFVYQ3Homo sapiens, Mus musculus, Rattus norvegicus
G162GSFDGGDQGLL2Mus musculus, Rattus norvegicus
G162GSFDGGDQGIL1Homo sapiens
G215VVHFLGRTKPW2Mus musculus, Rattus norvegicus
G215VVHFLGRVKPW1Homo sapiens
H151YNQLLHLASEQ3Homo sapiens, Mus musculus, Rattus norvegicus
H212NAKVVHFLGRT2Mus musculus, Rattus norvegicus
H212SAKVVHFLGRV1Homo sapiens
H236VKSEAHDPNMT1Homo sapiens
H236VNCDSQDPTVS1Mus musculus
H236VKCESQDPIVS1Rattus norvegicus
I192YNLSSISIYSY2Homo sapiens, Mus musculus
I192YNLSSLSIYSY1Rattus norvegicus
K218FLGRTKPWNYT2Mus musculus, Rattus norvegicus
K218FLGRVKPWNYT1Homo sapiens
K86GITLTKLHCWS2Mus musculus, Rattus norvegicus
K86GVTLTKLHCWS1Homo sapiens
L214KVVHFLGRTKP2Mus musculus, Rattus norvegicus
L214KVVHFLGRVKP1Homo sapiens
L80MKRPELGITLT2Mus musculus, Rattus norvegicus
L80MKRPELGVTLT1Homo sapiens
L9QAFVTLTTNDA3Homo sapiens, Mus musculus, Rattus norvegicus
M75AHLTLMKRPEL3Homo sapiens, Mus musculus, Rattus norvegicus
N12VTLTTNDAYAK3Homo sapiens, Mus musculus, Rattus norvegicus
N133WPDCFNSGVFV3Homo sapiens, Mus musculus, Rattus norvegicus
P126SAAPDPGWPDC3Homo sapiens, Mus musculus, Rattus norvegicus
P238SEAHDPNMTHP1Homo sapiens
P238CDSQDPTVSHP1Mus musculus
P238CESQDPIVSHP1Rattus norvegicus
Q164FDGGDQGLLNT2Mus musculus, Rattus norvegicus
Q164FDGGDQGILNT1Homo sapiens
R216VHFLGRTKPWN2Mus musculus, Rattus norvegicus
R216VHFLGRVKPWN1Homo sapiens
R77LTLMKRPELGI2Mus musculus, Rattus norvegicus
R77LTLMKRPELGV1Homo sapiens
S134PDCFNSGVFVY3Homo sapiens, Mus musculus, Rattus norvegicus
S191IYNLSSISIYS1Homo sapiens
S191VYNLSSISIYS1Mus musculus
S191VYNLSSLSIYS1Rattus norvegicus
S196SISIYSYLPAF2Homo sapiens, Mus musculus
S196SLSIYSYLPAF1Rattus norvegicus
T10AFVTLTTNDAY3Homo sapiens, Mus musculus, Rattus norvegicus
T11FVTLTTNDAYA3Homo sapiens, Mus musculus, Rattus norvegicus
T83PELGITLTKLH2Mus musculus, Rattus norvegicus
T83PELGVTLTKLH1Homo sapiens
V82RPELGITLTKL2Mus musculus, Rattus norvegicus
V82RPELGVTLTKL1Homo sapiens
Y15TTNDAYAKGAL3Homo sapiens, Mus musculus, Rattus norvegicus
Y195SSISIYSYLPA2Homo sapiens, Mus musculus
Y195SSLSIYSYLPA1Rattus norvegicus
Y197ISIYSYLPAFK2Homo sapiens, Mus musculus
Y197LSIYSYLPAFK1Rattus norvegicus


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