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 ACADM
Gene summary
Basic gene Info.Gene symbolACADM
Gene nameacyl-CoA dehydrogenase, C-4 to C-12 straight chain
SynonymsACAD1|MCAD|MCADH
CytomapUCSC genome browser: 1p31
Type of geneprotein-coding
RefGenesNM_000016.5,
NM_001127328.2,NM_001286042.1,NM_001286043.1,NM_001286044.1,
NR_022013.1,
Descriptionacyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chainmedium-chain specific acyl-CoA dehydrogenase, mitochondrial
Modification date20141222
dbXrefs MIM : 607008
HGNC : HGNC
Ensembl : ENSG00000117054
HPRD : 08447
Vega : OTTHUMG00000009784
ProteinUniProt: P11310
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACADM
BioGPS: 34
PathwayNCI Pathway Interaction Database: ACADM
KEGG: ACADM
REACTOME: ACADM
Pathway Commons: ACADM
ContextiHOP: ACADM
ligand binding site mutation search in PubMed: ACADM
UCL Cancer Institute: ACADM
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:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase1902818
GO:0051791medium-chain fatty acid metabolic process1970566
GO:0051793medium-chain fatty acid catabolic process1970566
GO:0055114oxidation-reduction process1902818


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Ligand binding site mutations for ACADM
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
V169,S167D168NHNSC1
I192I192MKIRC1
Q188Q188LLUAD1
G166G166ALUAD1
T193G195ROV1
I319S320LSKCM1
L128S127YSTAD1
L409L409RUCEC1
I396A394VUCEC1
L128S127YUCEC1
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 ACADM
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
I192I192M-1.0653097
I396A394V-0.98591994
L409L409R-0.83026562
Q188Q188L-0.64665762
G166G166A-0.61660307
T193G195R-0.1248365
V169D168N-0.042680887
S167D168N-0.042680887
I319S320L-0.03982777
L128S127Y-0.02826203
(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 ACADM from PDB

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Differential gene expression and gene-gene network for ACADM
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 ACADM and the right PPI network was created from samples without mutations in the LBS of ACADM. 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 ACADM
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0220710Medium chain acyl CoA dehydrogenase deficiency33Biomarker, GeneticVariation
umls:C0520459Enterocolitis, Necrotizing1Biomarker
umls:C0085605Liver Failure1Biomarker
umls:C0028754Obesity1Biomarker
umls:C0043094Weight Gain1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
18633G195RLikely pathogenic;PathogenicGermline;unknownGeneReviews:NBK1424
MedGen:C0220710
OMIM:201450
Orphanet:ORPHA42
SNOMED CT:128596003
MedGen:CN221809

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Pharmacological information for ACADM
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
ExperimentalDB02910Octanoyl-Coenzyme ASmall molecule
ApprovedDB03147Flavin adenine dinucleotideSmall molecule
ExperimentalDB034153-Thiaoctanoyl-Coenzyme ASmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of ACADM
Multiple alignments for P11310 in multiple species
LBSAA sequence# speciesSpecies
A170AGSDVAGIKTK4Homo sapiens, Rattus norvegicus, Bos taurus, Pan troglodytes
A170AGSDVSGIKTR1Drosophila melanogaster
A170AGSDVAAIKTK1Mus musculus
A318LVEHQAISFML2Homo sapiens, Pan troglodytes
A318LVEHQGVSFLL2Mus musculus, Rattus norvegicus
A318IAYHQAVQFML1Drosophila melanogaster
A318LIEHQGISFLL1Bos taurus
C159LMCAYCVTEPG2Homo sapiens, Pan troglodytes
C159MMCAYCVTEPS2Mus musculus, Rattus norvegicus
C159LVAAYCVTEPG1Drosophila melanogaster
C159LMCAYCVTEPV1Bos taurus
E124VQTAIEANSLG3Mus musculus, Rattus norvegicus, Bos taurus
E124VQTAIEGNSLG2Homo sapiens, Pan troglodytes
E124IMTALEASGLG1Drosophila melanogaster
E237QIGRKELNMGQ3Homo sapiens, Bos taurus, Pan troglodytes
E237HIGKKELNMGQ2Mus musculus, Rattus norvegicus
E237TPGRKELNMGQ1Drosophila melanogaster
E401IYQIYEGTSQI3Homo sapiens, Drosophila melanogaster, Pan troglodytes
E401IYQIYEGTAQI3Mus musculus, Rattus norvegicus, Bos taurus
F270GEGAGFKIAMG4Drosophila melanogaster, Mus musculus, Rattus norvegicus, Bos taurus
F270GDGAGFKVAMG2Homo sapiens, Pan troglodytes
F309LERKTFGKLLV2Homo sapiens, Pan troglodytes
F309LDRKTFGKLLV2Mus musculus, Rattus norvegicus
F309LERKTFGVPIA1Drosophila melanogaster
F309LERKTFGKLLI1Bos taurus
F381LGGNGFNTEYP2Homo sapiens, Pan troglodytes
F381FGGYGFNTEYP2Mus musculus, Rattus norvegicus
F381FGGNGFNSEYP1Drosophila melanogaster
F381FGGNGFNTEYP1Bos taurus
G125QTAIEANSLGQ3Mus musculus, Rattus norvegicus, Bos taurus
G125QTAIEGNSLGQ2Homo sapiens, Pan troglodytes
G125MTALEASGLGQ1Drosophila melanogaster
G166TEPGAGSDVAG2Homo sapiens, Pan troglodytes
G166TEPGAGSDVSG1Drosophila melanogaster
G166TEPSAGSDVAA1Mus musculus
G166TEPSAGSDVAG1Rattus norvegicus
G166TEPVAGSDVAG1Bos taurus
G377AVQILGGNGFN2Homo sapiens, Pan troglodytes
G377AVQIFGGNGFN2Drosophila melanogaster, Bos taurus
G377AVQIFGGYGFN2Mus musculus, Rattus norvegicus
G378VQILGGNGFNT2Homo sapiens, Pan troglodytes
G378VQIFGGYGFNT2Mus musculus, Rattus norvegicus
G378VQIFGGNGFNS1Drosophila melanogaster
G378VQIFGGNGFNT1Bos taurus
G402YQIYEGTSQIQ3Homo sapiens, Drosophila melanogaster, Pan troglodytes
G402YQIYEGTAQIQ3Mus musculus, Rattus norvegicus, Bos taurus
H316KLLVEHQAISF2Homo sapiens, Pan troglodytes
H316KLLVEHQGVSF2Mus musculus, Rattus norvegicus
H316VPIAYHQAVQF1Drosophila melanogaster
H316KLLIEHQGISF1Bos taurus
I192GQKMWITNGGK5Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
I192GQKMWITNGGV1Drosophila melanogaster
I319VEHQAISFMLA2Homo sapiens, Pan troglodytes
I319VEHQGVSFLLA2Mus musculus, Rattus norvegicus
I319AYHQAVQFMLA1Drosophila melanogaster
I319IEHQGISFLLA1Bos taurus
I375TDAVQILGGNG2Homo sapiens, Pan troglodytes
I375SDAVQIFGGNG2Drosophila melanogaster, Bos taurus
I375TDAVQIFGGYG2Mus musculus, Rattus norvegicus
I396MRDAKIYQIYE6Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
I399AKIYQIYEGTS3Homo sapiens, Drosophila melanogaster, Pan troglodytes
I399AKIYQIYEGTA3Mus musculus, Rattus norvegicus, Bos taurus
I406EGTAQIQRLII3Mus musculus, Rattus norvegicus, Bos taurus
I406EGTSQIQRLIV2Homo sapiens, Pan troglodytes
I406EGTSQIQRLII1Drosophila melanogaster
K271EGAGFKIAMGA3Mus musculus, Rattus norvegicus, Bos taurus
K271DGAGFKVAMGA2Homo sapiens, Pan troglodytes
K271EGAGFKIAMGT1Drosophila melanogaster
L128IEANSLGQMPV3Mus musculus, Rattus norvegicus, Bos taurus
L128IEGNSLGQMPI2Homo sapiens, Pan troglodytes
L128LEASGLGQTPV1Drosophila melanogaster
L313TFGKLLVEHQA2Homo sapiens, Pan troglodytes
L313TFGKLLVEHQG2Mus musculus, Rattus norvegicus
L313TFGVPIAYHQA1Drosophila melanogaster
L313TFGKLLIEHQG1Bos taurus
L409AQIQRLIIARE3Mus musculus, Rattus norvegicus, Bos taurus
L409SQIQRLIVARE2Homo sapiens, Pan troglodytes
L409SQIQRLIISRN1Drosophila melanogaster
M190INGQKMWITNG6Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
M274GFKVAMGAFDK2Homo sapiens, Pan troglodytes
M274GFKIAMGAFDR2Mus musculus, Rattus norvegicus
M274GFKIAMGTFDK1Drosophila melanogaster
M274GFKIAMGAFDK1Bos taurus
N216PKAPANKAFTG2Homo sapiens, Pan troglodytes
N216PKVPASKAFTG2Mus musculus, Rattus norvegicus
N216PKCPPSKAFTG1Drosophila melanogaster
N216PKAPASKAFTG1Bos taurus
N239GRKELNMGQRC3Homo sapiens, Bos taurus, Pan troglodytes
N239GKKELNMGQRC2Mus musculus, Rattus norvegicus
N239GRKELNMGQRA1Drosophila melanogaster
Q120GCTGVQTAIEA3Mus musculus, Rattus norvegicus, Bos taurus
Q120GCTGVQTAIEG2Homo sapiens, Pan troglodytes
Q120GCTGIMTALEA1Drosophila melanogaster
Q188YIINGQKMWIT3Homo sapiens, Bos taurus, Pan troglodytes
Q188YVINGQKMWIT2Mus musculus, Rattus norvegicus
Q188WVINGQKMWIT1Drosophila melanogaster
Q374ATDAVQILGGN2Homo sapiens, Pan troglodytes
Q374ASDAVQIFGGN2Drosophila melanogaster, Bos taurus
Q374ATDAVQIFGGY2Mus musculus, Rattus norvegicus
Q405YEGTSQIQRLI3Homo sapiens, Drosophila melanogaster, Pan troglodytes
Q405YEGTAQIQRLI3Mus musculus, Rattus norvegicus, Bos taurus
R281AFDKTRPVVAA2Homo sapiens, Pan troglodytes
R281AFDRTRPTVAA2Mus musculus, Rattus norvegicus
R281TFDKTRPPVAA1Drosophila melanogaster
R281AFDKTRPPVAA1Bos taurus
R306KYALERKTFGK3Homo sapiens, Bos taurus, Pan troglodytes
R306KYALDRKTFGK2Mus musculus, Rattus norvegicus
R306KYALERKTFGV1Drosophila melanogaster
R349VDSGRRNTYYA4Homo sapiens, Mus musculus, Bos taurus, Pan troglodytes
R349IDQGRRNSYYA1Drosophila melanogaster
R349VDSGRRNTYFA1Rattus norvegicus
R413RLIVAREHIDK2Homo sapiens, Pan troglodytes
R413RLIIAREHIEK2Mus musculus, Rattus norvegicus
R413RLIISRNMYEA1Drosophila melanogaster
R413RLIIAREHIGR1Bos taurus
S167EPGAGSDVAGI2Homo sapiens, Pan troglodytes
S167EPGAGSDVSGI1Drosophila melanogaster
S167EPSAGSDVAAI1Mus musculus
S167EPSAGSDVAGI1Rattus norvegicus
S167EPVAGSDVAGI1Bos taurus
T121CTGVQTAIEAN3Mus musculus, Rattus norvegicus, Bos taurus
T121CTGVQTAIEGN2Homo sapiens, Pan troglodytes
T121CTGIMTALEAS1Drosophila melanogaster
T161CAYCVTEPGAG2Homo sapiens, Pan troglodytes
T161CAYCVTEPSAG2Mus musculus, Rattus norvegicus
T161AAYCVTEPGAG1Drosophila melanogaster
T161CAYCVTEPVAG1Bos taurus
T193QKMWITNGGKA5Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
T193QKMWITNGGVA1Drosophila melanogaster
T247QRCSDTRGIVF3Homo sapiens, Bos taurus, Pan troglodytes
T247QRASDTRGITF1Drosophila melanogaster
T247QRCSDTRGIAF1Mus musculus
T247QRCSDTRGITF1Rattus norvegicus
T308ALERKTFGKLL3Homo sapiens, Bos taurus, Pan troglodytes
T308ALDRKTFGKLL2Mus musculus, Rattus norvegicus
T308ALERKTFGVPI1Drosophila melanogaster
T351SGRRNTYYASI4Homo sapiens, Mus musculus, Bos taurus, Pan troglodytes
T351QGRRNSYYASI1Drosophila melanogaster
T351SGRRNTYFASI1Rattus norvegicus
T403QIYEGTSQIQR3Homo sapiens, Drosophila melanogaster, Pan troglodytes
T403QIYEGTAQIQR3Mus musculus, Rattus norvegicus, Bos taurus
V160MCAYCVTEPGA2Homo sapiens, Pan troglodytes
V160MCAYCVTEPSA2Mus musculus, Rattus norvegicus
V160VAAYCVTEPGA1Drosophila melanogaster
V160MCAYCVTEPVA1Bos taurus
V169GAGSDVAGIKT2Homo sapiens, Pan troglodytes
V169GAGSDVSGIKT1Drosophila melanogaster
V169SAGSDVAAIKT1Mus musculus
V169SAGSDVAGIKT1Rattus norvegicus
V169VAGSDVAGIKT1Bos taurus
V284KTRPVVAAGAV2Homo sapiens, Pan troglodytes
V284RTRPTVAAGAV2Mus musculus, Rattus norvegicus
V284KTRPPVAAGAV1Drosophila melanogaster
V284KTRPPVAAAAV1Bos taurus
W191NGQKMWITNGG6Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Bos taurus, Pan troglodytes
Y158PLMCAYCVTEP3Homo sapiens, Bos taurus, Pan troglodytes
Y158PMMCAYCVTEP2Mus musculus, Rattus norvegicus
Y158PLVAAYCVTEP1Drosophila melanogaster
Y400KIYQIYEGTSQ3Homo sapiens, Drosophila melanogaster, Pan troglodytes
Y400KIYQIYEGTAQ3Mus musculus, Rattus norvegicus, Bos taurus


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