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 ACAD8
Gene summary
Basic gene Info.Gene symbolACAD8
Gene nameacyl-CoA dehydrogenase family, member 8
CytomapUCSC genome browser: 11q25
Type of geneprotein-coding
Descriptionactivator-recruited cofactor 42 kDa componentacyl-Coenzyme A dehydrogenase family, member 8isobutyryl-CoA dehydrogenase, mitochondrial
Modification date20141207
dbXrefs MIM : 604773
Ensembl : ENSG00000151498
HPRD : 11985
Vega : OTTHUMG00000167177
ProteinUniProt: Q9UKU7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ACAD8
BioGPS: 27034
PathwayNCI Pathway Interaction Database: ACAD8
Pathway Commons: ACAD8
ContextiHOP: ACAD8
ligand binding site mutation search in PubMed: ACAD8
UCL Cancer Institute: ACAD8
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for ACAD8
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
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.

Protein structure related information for ACAD8
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
(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 ACAD8 from PDB

Differential gene expression and gene-gene network for ACAD8
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 ACAD8 and the right PPI network was created from samples without mutations in the LBS of ACAD8. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ACAD8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1969809Isobutyryl-CoA dehydrogenase deficiency3Biomarker, GeneticVariation
umls:C0242656Disease Progression1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

Pharmacological information for ACAD8
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
ExperimentalDB01675Methacrylyl-Coenzyme ASmall molecule
ApprovedDB03147Flavin adenine dinucleotideSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ACAD8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of ACAD8
Multiple alignments for Q9UKU7 in multiple species
LBSAA sequence# speciesSpecies
A169GSGSDAASLLT2Homo sapiens, Mus musculus
A169GSGSDAASLMT1Bos taurus
E398VHQILEGSNEV3Homo sapiens, Bos taurus, Mus musculus
E402LEGSNEVMRML2Bos taurus, Mus musculus
E402LEGSNEVMRIL1Homo sapiens
F191NGSKAFISGGG2Bos taurus, Mus musculus
F191NGSKAFISGAG1Homo sapiens
F266SEGQGFLIAVR1Homo sapiens
F266DEGQGFLIAMK1Bos taurus
F266TEGQGFLIAMK1Mus musculus
F305NVRKQFGEPLA1Homo sapiens
F305KVRKQFGEPLA1Bos taurus
F305KVRKQFGAPLA1Mus musculus
G166TEPGSGSDAAS3Homo sapiens, Bos taurus, Mus musculus
G374ALQMHGGYGYL3Homo sapiens, Bos taurus, Mus musculus
G375LQMHGGYGYLK3Homo sapiens, Bos taurus, Mus musculus
G399HQILEGSNEVM3Homo sapiens, Bos taurus, Mus musculus
I125TAYISIHNMCA2Homo sapiens, Mus musculus
I125TAYMSIHNMCV1Bos taurus
I192GSKAFISGGGE2Bos taurus, Mus musculus
I192GSKAFISGAGE1Homo sapiens
I396SRVHQILEGSN3Homo sapiens, Bos taurus, Mus musculus
I406NEVMRILISRS1Homo sapiens
I406NEVMRMLISRS1Bos taurus
I406NEVMRMLISRN1Mus musculus
L160FASYCLTEPGS3Homo sapiens, Bos taurus, Mus musculus
L273IAMKGLNGGRI2Bos taurus, Mus musculus
L273IAVRGLNGGRI1Homo sapiens
L309QFGEPLASNQY1Homo sapiens
L309QFGEPLANSQY1Bos taurus
L309QFGAPLARSQY1Mus musculus
L315ASNQYLQFTLA1Homo sapiens
L315ANSQYLQFQLA1Bos taurus
L315ARSQYLQFQLA1Mus musculus
L397RVHQILEGSNE3Homo sapiens, Bos taurus, Mus musculus
L407EVMRILISRSL1Homo sapiens
L407EVMRMLISRSL1Bos taurus
L407EVMRMLISRNL1Mus musculus
M372NQALQMHGGYG3Homo sapiens, Bos taurus, Mus musculus
N274AMKGLNGGRIN2Bos taurus, Mus musculus
N274AVRGLNGGRIN1Homo sapiens
N312EPLASNQYLQF1Homo sapiens
N312EPLANSQYLQF1Bos taurus
N312APLARSQYLQF1Mus musculus
P212TGGPGPKGISC1Homo sapiens
P212TGGPGPRGISC1Bos taurus
P212TGGSGAKGISC1Mus musculus
Q371CNQALQMHGGY3Homo sapiens, Bos taurus, Mus musculus
R277GLNGGRINVAS2Bos taurus, Mus musculus
R277GLNGGRINIAS1Homo sapiens
R302DHLNVRKQFGE1Homo sapiens
R302DYLKVRKQFGE1Bos taurus
R302EHLKVRKQFGA1Mus musculus
R410RILISRSLLQE1Homo sapiens
R410RMLISRSLLQE1Bos taurus
R410RMLISRNLLQD1Mus musculus
S167EPGSGSDAASL3Homo sapiens, Bos taurus, Mus musculus
S193SKAFISGAGES1Homo sapiens
S193SKAFISGGGEA1Bos taurus
S193SKAFISGGGES1Mus musculus
S400QILEGSNEVMR3Homo sapiens, Bos taurus, Mus musculus
T161ASYCLTEPGSG3Homo sapiens, Bos taurus, Mus musculus
V270GFLIAMKGLNG2Bos taurus, Mus musculus
V270GFLIAVRGLNG1Homo sapiens
V348ERKDAVALCSM1Homo sapiens
V348EREDAIVLCSM1Bos taurus
V348EREDAVALCSM1Mus musculus
V393VRDSRVHQILE2Homo sapiens, Bos taurus
V393MRDSRVHQILE1Mus musculus
V403EGSNEVMRMLI2Bos taurus, Mus musculus
V403EGSNEVMRILI1Homo sapiens
W238EKKVGWNSQPT3Homo sapiens, Bos taurus, Mus musculus
Y158EKFASYCLTEP3Homo sapiens, Bos taurus, Mus musculus
Y376QMHGGYGYLKD3Homo sapiens, Bos taurus, Mus musculus
Y378HGGYGYLKDYA3Homo sapiens, Bos taurus, Mus musculus

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