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 ETFA
Gene summary
Basic gene Info.Gene symbolETFA
Gene nameelectron-transfer-flavoprotein, alpha polypeptide
SynonymsEMA|GA2|MADD
CytomapUCSC genome browser: 15q23-q25
Type of geneprotein-coding
RefGenesNM_000126.3,
NM_001127716.1,
Descriptionalpha-ETFelectron transfer flavoprotein alpha-subunitelectron transfer flavoprotein subunit alpha, mitochondrialelectron transfer flavoprotein, alpha polypeptideglutaric aciduria II
Modification date20141207
dbXrefs MIM : 608053
HGNC : HGNC
Ensembl : ENSG00000140374
HPRD : 01979
Vega : OTTHUMG00000172586
ProteinUniProt: P13804
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ETFA
BioGPS: 2108
PathwayNCI Pathway Interaction Database: ETFA
KEGG: ETFA
REACTOME: ETFA
Pathway Commons: ETFA
ContextiHOP: ETFA
ligand binding site mutation search in PubMed: ETFA
UCL Cancer Institute: ETFA
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 ETFA
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
N300A298VCOAD1
Q285I284VOV1
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 ETFA
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
N300A298V-0.43208029
Q285I284V-0.41419072
(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 ETFA from PDB

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Differential gene expression and gene-gene network for ETFA
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 ETFA and the right PPI network was created from samples without mutations in the LBS of ETFA. 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 ETFA
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0268596Multiple Acyl Coenzyme A Dehydrogenase Deficiency6Biomarker, GeneticVariation
umls:C2239176Carcinoma, Hepatocellular1Biomarker
umls:C0029408Osteoarthritis1Biomarker

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

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Pharmacological information for ETFA
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 ETFA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FADFAD1efvAQ285 N300
FADFAD2a1tRQ285 N300
FADFAD2a1uAQ285 N300


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Conservation information for LBS of ETFA
Multiple alignments for P13804 in multiple species
LBSAA sequence# speciesSpecies
A250VGASRAAVDAG5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
A250VGATRAAVDAG2Arabidopsis thaliana, Oryza sativa subsp. japonica
A250IGATRVAVDSG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A250IGATRASVDNG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A317DYGIVADLFKV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
A317DVGIVGDLFEI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A317DYGLQGDLYKI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A317DYGLVGDLFEV1Arabidopsis thaliana
A317DYGIVADLFEV1Oryza sativa subsp. japonica
A317DIGLKADLFKA1Caenorhabditis elegans
D302VAINKDPEAPI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D302VAVNKDADAPI2Arabidopsis thaliana, Oryza sativa subsp. japonica
D302AAINRDENAPI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D302VAINNDPDAPI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D302VAINKDPDAPI1Caenorhabditis elegans
D318YGIVADLFKVV4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
D318VGIVGDLFEIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D318YGLQGDLYKIV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D318YGLVGDLFEVI1Arabidopsis thaliana
D318YGIVADLFEVL1Oryza sativa subsp. japonica
D318IGLKADLFKAV1Caenorhabditis elegans
F320IVADLFKVVPE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
F320IVGDLFEIVPE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F320LQGDLYKIVPE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F320LVGDLFEVIPE1Arabidopsis thaliana
F320IVADLFEVLDE1Oryza sativa subsp. japonica
F320LKADLFKAVPE1Caenorhabditis elegans
G222VVVSGGRGLKS5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
G222RVVAGGRPLKD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G222NVVTGGRALKD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G222VVITGGRALKS1Arabidopsis thaliana
G222VVVTGGRGLKS1Oryza sativa subsp. japonica
G224VSGGRGLKSGE4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G224VAGGRPLKDKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G224VTGGRALKDKE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G224ITGGRALKSVE1Arabidopsis thaliana
G224VTGGRGLKSAE1Oryza sativa subsp. japonica
G224VSGGRGLKSGD1Caenorhabditis elegans
G264NDMQVGQTGKI4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
G264NDLQVGQTGKI2Arabidopsis thaliana, Bos taurus
G264NSLQIGQTGKI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G264NSLQIGQTGKV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G264NELQVGQTGKI1Oryza sativa subsp. japonica
G267QVGQTGKIVAP7Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
G267QIGQTGKIIAP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G267QIGQTGKVVAP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G279LYIAVGISGAI4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
G279LYMAFGVSGAI2Arabidopsis thaliana, Oryza sativa subsp. japonica
G279LYIAVGIDGAI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G279LYIAIGVSGAV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G279LYIAIGISGAI1Caenorhabditis elegans
H286SGAIQHLAGMK5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
H286DGAIQHLAGIK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H286SGAVQHLAGMK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H286SGAIQHLAGIK1Arabidopsis thaliana
H286SGAIQHLAGMR1Oryza sativa subsp. japonica
I280YIAVGISGAIQ4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
I280YMAFGVSGAIQ2Arabidopsis thaliana, Oryza sativa subsp. japonica
I280YIAVGIDGAIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I280YIAIGVSGAVQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I280YIAIGISGAIQ1Caenorhabditis elegans
K301IVAINKDPEAP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
K301IVAVNKDADAP2Arabidopsis thaliana, Oryza sativa subsp. japonica
K301IAAINRDENAP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K301IVAINNDPDAP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K301IVAINKDPDAP1Caenorhabditis elegans
L319GIVADLFKVVP4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
L319GIVGDLFEIVP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L319GLQGDLYKIVP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L319GLVGDLFEVIP1Arabidopsis thaliana
L319GIVADLFEVLD1Oryza sativa subsp. japonica
L319GLKADLFKAVP1Caenorhabditis elegans
N300TIVAINKDPEA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
N300VIVAVNKDADA2Arabidopsis thaliana, Oryza sativa subsp. japonica
N300VIAAINRDENA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N300VIVAINNDPDA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N300VIVAINKDPDA1Caenorhabditis elegans
Q262VPNDMQVGQTG4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
Q262ADNSLQIGQTG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q262CDNSLQIGQTG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q262VPNDLQVGQTG1Arabidopsis thaliana
Q262VPNELQVGQTG1Oryza sativa subsp. japonica
Q262VTNDLQVGQTG1Bos taurus
Q265DMQVGQTGKIV4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
Q265DLQVGQTGKIV2Arabidopsis thaliana, Bos taurus
Q265SLQIGQTGKII1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q265SLQIGQTGKVV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q265ELQVGQTGKIV1Oryza sativa subsp. japonica
Q285ISGAIQHLAGM5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
Q285IDGAIQHLAGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q285VSGAVQHLAGM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q285VSGAIQHLAGI1Arabidopsis thaliana
Q285VSGAIQHLAGM1Oryza sativa subsp. japonica
R223VVSGGRGLKSG5Homo sapiens, Caenorhabditis elegans, Bos taurus, Mus musculus, Rattus norvegicus
R223VVAGGRPLKDK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R223VVTGGRALKDK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R223VITGGRALKSV1Arabidopsis thaliana
R223VVTGGRGLKSA1Oryza sativa subsp. japonica
R249AVGASRAAVDA4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
R249AVGATRAAVDA2Arabidopsis thaliana, Oryza sativa subsp. japonica
R249AIGATRVAVDS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R249AIGATRASVDN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R249GVGASRAAVDA1Caenorhabditis elegans
S248AAVGASRAAVD4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S248AAIGATRVAVD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S248AAIGATRASVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S248GAVGATRAAVD1Arabidopsis thaliana
S248AAVGATRAAVD1Oryza sativa subsp. japonica
S248AGVGASRAAVD1Caenorhabditis elegans
S281IAVGISGAIQH4Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus
S281MAFGVSGAIQH2Arabidopsis thaliana, Oryza sativa subsp. japonica
S281IAVGIDGAIQH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S281IAIGVSGAVQH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S281IAIGISGAIQH1Caenorhabditis elegans
T266MQVGQTGKIVA4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
T266LQVGQTGKIVA3Arabidopsis thaliana, Oryza sativa subsp. japonica, Bos taurus
T266LQIGQTGKIIA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T266LQIGQTGKVVA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V263PNDMQVGQTGK4Homo sapiens, Caenorhabditis elegans, Mus musculus, Rattus norvegicus
V263DNSLQIGQTGK2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V263PNDLQVGQTGK1Arabidopsis thaliana
V263PNELQVGQTGK1Oryza sativa subsp. japonica
V263TNDLQVGQTGK1Bos taurus


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