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 ALDH7A1
Gene summary
Basic gene Info.Gene symbolALDH7A1
Gene namealdehyde dehydrogenase 7 family, member A1
SynonymsATQ1|EPD|PDE
CytomapUCSC genome browser: 5q31
Type of geneprotein-coding
RefGenesNM_001182.4,
NM_001201377.1,NM_001202404.1,
Description26g turgor protein homologP6c dehydrogenasealpha-AASA dehydrogenasealpha-aminoadipic semialdehyde dehydrogenaseantiquitin-1betaine aldehyde dehydrogenasedelta1-piperideine-6-carboxylate dehydrogenase
Modification date20141219
dbXrefs MIM : 107323
HGNC : HGNC
Ensembl : ENSG00000164904
HPRD : 00124
Vega : OTTHUMG00000128942
ProteinUniProt: P49419
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALDH7A1
BioGPS: 501
PathwayNCI Pathway Interaction Database: ALDH7A1
KEGG: ALDH7A1
REACTOME: ALDH7A1
Pathway Commons: ALDH7A1
ContextiHOP: ALDH7A1
ligand binding site mutation search in PubMed: ALDH7A1
UCL Cancer Institute: ALDH7A1
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 ALDH7A1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
F272F272LCOAD1
I191I190FLUAD1
E296E296KSKCM1
G274G274ESTAD1
S275S275RSTAD1
W203N205KSTAD1
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 ALDH7A1
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
G274G274E0.01378902
E296E296K-1.2005018
I191I190F-1.14662
F272F272L-0.7769968
S275S275R-0.45043101
W203N205K-0.1549624
(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 ALDH7A1 from PDB

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Differential gene expression and gene-gene network for ALDH7A1
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 ALDH7A1 and the right PPI network was created from samples without mutations in the LBS of ALDH7A1. 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 ALDH7A1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1849508Pyridoxine-dependent epilepsy27Biomarker, GeneticVariation
umls:C0005940Bone Diseases1Biomarker
umls:C0009363Coloboma1Biomarker
umls:C0242656Disease Progression1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

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Pharmacological information for ALDH7A1
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 ALDH7A1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of ALDH7A1
Multiple alignments for P49419 in multiple species
LBSAA sequence# speciesSpecies
A193VGIITAFNFPV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A193VGVITAFNFPC1Arabidopsis thaliana
A193VGVISAFNFPC1Caenorhabditis elegans
A199FNFPVAVYGWN2Homo sapiens, Bos taurus
A199FNFPVAVFGWN2Mus musculus, Rattus norvegicus
A199FNFPCAVLGWN1Arabidopsis thaliana
A199FNFPCAVYGWN1Caenorhabditis elegans
A220CLWKGAPTTSL4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A220VVWKGAPTTPL1Arabidopsis thaliana
A220VVWKPAPSTPL1Caenorhabditis elegans
A255LTCGGADIGTA2Homo sapiens, Bos taurus
A255AMCGGAEIGEA1Arabidopsis thaliana
A255LVCGEGDVGQA1Caenorhabditis elegans
A255LVCGGADIGTT1Mus musculus
A255LTCGGADMGTA1Rattus norvegicus
A490IPTSGAEIGGA5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
A490IPTNGAEIGGA1Arabidopsis thaliana
C330TAGQRCTTARR2Homo sapiens, Bos taurus
C330TAGQRCTTVRR2Mus musculus, Rattus norvegicus
C330TAGQRCTTCRR1Arabidopsis thaliana
C330TAGQRCTTTRR1Caenorhabditis elegans
D152VQEYVDVCDYA3Bos taurus, Mus musculus, Rattus norvegicus
D152VQEYVDICDYA2Homo sapiens, Caenorhabditis elegans
D152VQEVIDMCDFA1Arabidopsis thaliana
E149VGEVQEYVDIC2Homo sapiens, Caenorhabditis elegans
E149IGEVQEYVDVC2Mus musculus, Rattus norvegicus
E149IGEVQEVIDMC1Arabidopsis thaliana
E149VGEVQEYVDVC1Bos taurus
E296GRSLLELGGNN2Homo sapiens, Bos taurus
E296GKSLLELGGNN2Mus musculus, Rattus norvegicus
E296GKTLLELSGNN1Arabidopsis thaliana
E296GKLLLELGGNN1Caenorhabditis elegans
E427SIAHTETFAPI1Homo sapiens
E427AVVKEELFAPV1Arabidopsis thaliana
E427PVVLRETFAPI1Caenorhabditis elegans
E427SIVHTETFAPI1Bos taurus
E427PIVHQETFAPI1Mus musculus
E427PIVHKETFAPI1Rattus norvegicus
E507TGGGRESGSDA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
E507TGGGREAGSDS1Arabidopsis thaliana
E507TGGGRESGSDS1Caenorhabditis elegans
F194GIITAFNFPVA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F194GVITAFNFPCA1Arabidopsis thaliana
F194GVISAFNFPCA1Caenorhabditis elegans
F196ITAFNFPVAVY2Homo sapiens, Bos taurus
F196ITAFNFPVAVF2Mus musculus, Rattus norvegicus
F196ITAFNFPCAVL1Arabidopsis thaliana
F196ISAFNFPCAVY1Caenorhabditis elegans
F272VNLLSFTGSTQ3Homo sapiens, Mus musculus, Rattus norvegicus
F272IPLVSFTGSSR1Arabidopsis thaliana
F272VNLVSFTGSSE1Caenorhabditis elegans
F272VDLLSFTGSTQ1Bos taurus
F429AHTETFAPILY1Homo sapiens
F429VKEELFAPVLY1Arabidopsis thaliana
F429VLRETFAPILY1Caenorhabditis elegans
F429VHTETFAPILY1Bos taurus
F429VHQETFAPILY1Mus musculus
F429VHKETFAPILY1Rattus norvegicus
F496EIGGAFGGEKH4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F496EIGGAFGGEKA1Arabidopsis thaliana
F496EIGGAFGGEKE1Caenorhabditis elegans
G219VCLWKGAPTTS3Homo sapiens, Mus musculus, Rattus norvegicus
G219CVVWKGAPTTP1Arabidopsis thaliana
G219SVVWKPAPSTP1Caenorhabditis elegans
G219ACLWKGAPTTS1Bos taurus
G258GGADIGTAMAK2Homo sapiens, Bos taurus
G258GGAEIGEAIAK1Arabidopsis thaliana
G258GEGDVGQALVK1Caenorhabditis elegans
G258GGADIGTTMAR1Mus musculus
G258GGADMGTAMAR1Rattus norvegicus
G274LLSFTGSTQVG4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G274LVSFTGSSRVG1Arabidopsis thaliana
G274LVSFTGSSEIG1Caenorhabditis elegans
G298SLLELGGNNAI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G298TLLELSGNNAI1Arabidopsis thaliana
G298LLLELGGNNAI1Caenorhabditis elegans
G489NIPTSGAEIGG5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
G489NIPTNGAEIGG1Arabidopsis thaliana
H501FGGEKHTGGGR4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
H501FGGEKATGGGR1Arabidopsis thaliana
H501FGGEKETGGGR1Caenorhabditis elegans
I191GLVGIITAFNF4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I191GIVGVITAFNF1Arabidopsis thaliana
I191GVVGVISAFNF1Caenorhabditis elegans
K218NVCLWKGAPTT3Homo sapiens, Mus musculus, Rattus norvegicus
K218NCVVWKGAPTT1Arabidopsis thaliana
K218NSVVWKPAPST1Caenorhabditis elegans
K218NACLWKGAPTT1Bos taurus
L297RSLLELGGNNA2Homo sapiens, Bos taurus
L297KSLLELGGNNA2Mus musculus, Rattus norvegicus
L297KTLLELSGNNA1Arabidopsis thaliana
L297KLLLELGGNNA1Caenorhabditis elegans
N195IITAFNFPVAV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N195VITAFNFPCAV1Arabidopsis thaliana
N195VISAFNFPCAV1Caenorhabditis elegans
P221LWKGAPTTSLI2Homo sapiens, Bos taurus
P221LWKGAPTTSLV2Mus musculus, Rattus norvegicus
P221VWKGAPTTPLI1Arabidopsis thaliana
P221VWKPAPSTPLT1Caenorhabditis elegans
R329GTAGQRCTTAR2Homo sapiens, Bos taurus
R329GTAGQRCTTVR2Mus musculus, Rattus norvegicus
R329GTAGQRCTTCR1Arabidopsis thaliana
R329GTAGQRCTTTR1Caenorhabditis elegans
S275LSFTGSTQVGK4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S275VSFTGSSRVGS1Arabidopsis thaliana
S275VSFTGSSEIGK1Caenorhabditis elegans
S488VNIPTSGAEIG5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
S488VNIPTNGAEIG1Arabidopsis thaliana
T192LVGIITAFNFP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
T192IVGVITAFNFP1Arabidopsis thaliana
T192VVGVISAFNFP1Caenorhabditis elegans
T259GADIGTAMAKD2Homo sapiens, Bos taurus
T259GAEIGEAIAKD1Arabidopsis thaliana
T259EGDVGQALVKD1Caenorhabditis elegans
T259GADIGTTMARD1Mus musculus
T259GADMGTAMARD1Rattus norvegicus
T273NLLSFTGSTQV3Homo sapiens, Mus musculus, Rattus norvegicus
T273PLVSFTGSSRV1Arabidopsis thaliana
T273NLVSFTGSSEI1Caenorhabditis elegans
T273DLLSFTGSTQV1Bos taurus
T331AGQRCTTARRL2Homo sapiens, Bos taurus
T331AGQRCTTVRRL2Mus musculus, Rattus norvegicus
T331AGQRCTTCRRL1Arabidopsis thaliana
T331AGQRCTTTRRL1Caenorhabditis elegans
V200NFPVAVYGWNN2Homo sapiens, Bos taurus
V200NFPVAVFGWNN2Mus musculus, Rattus norvegicus
V200NFPCAVLGWNA1Arabidopsis thaliana
V200NFPCAVYGWNN1Caenorhabditis elegans
V278TGSTQVGKQVA2Bos taurus, Rattus norvegicus
V278TGSTQVGKQVG1Homo sapiens
V278TGSSRVGSMVQ1Arabidopsis thaliana
V278TGSSEIGKIVG1Caenorhabditis elegans
V278TGSTQVGKEVA1Mus musculus
V282QVGKQVALMVQ2Bos taurus, Rattus norvegicus
V282QVGKQVGLMVQ1Homo sapiens
V282RVGSMVQQTVN1Arabidopsis thaliana
V282EIGKIVGQQVQ1Caenorhabditis elegans
V282QVGKEVALMVQ1Mus musculus
W203VAVYGWNNAIA2Homo sapiens, Bos taurus
W203VAVFGWNNAIA2Mus musculus, Rattus norvegicus
W203CAVLGWNACIA1Arabidopsis thaliana
W203CAVYGWNNALA1Caenorhabditis elegans


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