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 ADH7
Gene summary
Basic gene Info.Gene symbolADH7
Gene namealcohol dehydrogenase 7 (class IV), mu or sigma polypeptide
SynonymsADH4
CytomapUCSC genome browser: 4q23-q24
Type of geneprotein-coding
RefGenesNM_000673.4,
NM_001166504.1,
Descriptionalcohol dehydrogenase VIIalcohol dehydrogenase class 4 mu/sigma chainalcohol dehydrogenase class IV mu/sigma chainalcohol dehydrogenase-7class IV sigma-1 alcohol dehydrogenaseclass IV sigmasigma alcohol dehydrogenasegastric alcohol dehydrogenaseret
Modification date20141222
dbXrefs MIM : 600086
HGNC : HGNC
Ensembl : ENSG00000196344
HPRD : 02515
Vega : OTTHUMG00000159318
ProteinUniProt: P40394
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ADH7
BioGPS: 131
PathwayNCI Pathway Interaction Database: ADH7
KEGG: ADH7
REACTOME: ADH7
Pathway Commons: ADH7
ContextiHOP: ADH7
ligand binding site mutation search in PubMed: ADH7
UCL Cancer Institute: ADH7
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:0001523retinoid metabolic process9600267
GO:0006069ethanol oxidation10969996
GO:0009617response to bacterium11410738
GO:0010430fatty acid omega-oxidation9600267
GO:0045471response to ethanol9600267
GO:0055114oxidation-reduction process7876099
GO:1900116extracellular negative regulation of signal transduction9600267


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Ligand binding site mutations for ADH7
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G211F210LCOAD2
T190S189FSKCM2
V306P307SBRCA1
C116R117CGBM1
T190G191ESKCM1
F106P104SSKCM1
M153H151RSTAD1
R381S379ISTAD1
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 ADH7
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
G211F210L0.28505157
R381S379I0.24706866
F106P104S-1.1850307
C116R117C-0.93055661
T190G191E-0.74075127
T190S189F-0.39281769
V306P307S-0.21969893
M153H151R-0.20618839
(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 ADH7 from PDB
PDB IDPDB titlePDB structure
1AGNX-RAY STRUCTURE OF HUMAN SIGMA ALCOHOL DEHYDROGENASE

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Differential gene expression and gene-gene network for ADH7
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 ADH7 and the right PPI network was created from samples without mutations in the LBS of ADH7. 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 ADH7
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0014859Esophageal Neoplasms1Biomarker, GeneticVariation
umls:C0023055Laryngeal Neoplasms1Biomarker, GeneticVariation
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0031347Pharyngeal Neoplasms1Biomarker

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

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Pharmacological information for ADH7
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
NutraceuticalDB00157NADHSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ADH7 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ADH7
Multiple alignments for P40394 in multiple species
LBSAA sequence# speciesSpecies
C110LFLPQCRECNA2Homo sapiens, Mus musculus
C110LFLPQCRECNP1Rattus norvegicus
C113PQCRECNACRN1Homo sapiens
C113PQCRECNACLN1Mus musculus
C113PQCRECNPCRN1Rattus norvegicus
C116RECNACRNPDG1Homo sapiens
C116RECNACLNPEG1Mus musculus
C116RECNPCRNPEG1Rattus norvegicus
C124PEGNLCIRSDL2Mus musculus, Rattus norvegicus
C124PDGNLCIRSDI1Homo sapiens
C186ACLIGCGFSTG2Mus musculus, Rattus norvegicus
C186VCLIGCGFSTG1Homo sapiens
C329RTWKGCVFGGW2Mus musculus, Rattus norvegicus
C329RTWKGCVFGGL1Homo sapiens
C59LATGICRTDDH2Homo sapiens, Mus musculus
C59LATGICGTDDH1Rattus norvegicus
D235RIIGIDINKDK2Mus musculus, Rattus norvegicus
D235RIIGIDLNKDK1Homo sapiens
E264TKPISEVLSDM2Mus musculus, Rattus norvegicus
E264TKPISEVLSEM1Homo sapiens
E268SEVLSDMTGNT2Mus musculus, Rattus norvegicus
E268SEVLSEMTGNN1Homo sapiens
F106KVIPLFLPQCR3Homo sapiens, Mus musculus, Rattus norvegicus
F331WKGCVFGGWKS2Mus musculus, Rattus norvegicus
F331WKGCVFGGLKS1Homo sapiens
G211TCVVFGLGGVG2Homo sapiens, Mus musculus
G211TCAVFGLGGVG1Rattus norvegicus
G213VVFGLGGVGLS2Homo sapiens, Mus musculus
G213AVFGLGGVGLS1Rattus norvegicus
G214VFGLGGVGLSV3Homo sapiens, Mus musculus, Rattus norvegicus
G282TFEVIGRLETM2Mus musculus, Rattus norvegicus
G282TFEVIGHLETM1Homo sapiens
G305TSVVVGAPPSA2Mus musculus, Rattus norvegicus
G305TSVVVGVPPSA1Homo sapiens
H283FEVIGRLETMV2Mus musculus, Rattus norvegicus
H283FEVIGHLETMI1Homo sapiens
H64CRTDDHVIKGT1Homo sapiens
H64CRTDDHIIKGS1Mus musculus
H64CGTDDHVIKGT1Rattus norvegicus
H80PVIVGHEATGI1Homo sapiens
H80PVIVGHEAVGV1Mus musculus
H80PVIVGHEAVGI1Rattus norvegicus
I281YTFEVIGRLET2Mus musculus, Rattus norvegicus
I281YTFEVIGHLET1Homo sapiens
K240DINKDKFQKAL2Mus musculus, Rattus norvegicus
K240DLNKDKFEKAM1Homo sapiens
L212CVVFGLGGVGL2Homo sapiens, Mus musculus
L212CAVFGLGGVGL1Rattus norvegicus
L236IIGIDINKDKF2Mus musculus, Rattus norvegicus
L236IIGIDLNKDKF1Homo sapiens
M153PVQHFMNTSTF2Mus musculus, Rattus norvegicus
M153PVHHFMNTSTF1Homo sapiens
N237IGIDINKDKFQ2Mus musculus, Rattus norvegicus
N237IGIDLNKDKFE1Homo sapiens
R381SGQSIRTVLTF2Homo sapiens, Rattus norvegicus
R381SGKSIRTVLTF1Mus musculus
R60ATGICRTDDHV1Homo sapiens
R60ATGICRTDDHI1Mus musculus
R60ATGICGTDDHV1Rattus norvegicus
T190GCGFSTGYGAA3Homo sapiens, Mus musculus, Rattus norvegicus
T61TGICRTDDHVI1Homo sapiens
T61TGICRTDDHII1Mus musculus
T61TGICGTDDHVI1Rattus norvegicus
V215FGLGGVGLSVI2Homo sapiens, Mus musculus
V215FGLGGVGLSVV1Rattus norvegicus
V280QYTFEVIGRLE2Mus musculus, Rattus norvegicus
V280GYTFEVIGHLE1Homo sapiens
V304GTSVVVGAPPS2Mus musculus, Rattus norvegicus
V304GTSVVVGVPPS1Homo sapiens
V306SVVVGAPPSAK2Mus musculus, Rattus norvegicus
V306SVVVGVPPSAK1Homo sapiens
V330TWKGCVFGGWK2Mus musculus, Rattus norvegicus
V330TWKGCVFGGLK1Homo sapiens


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