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 HADH
Gene summary
Basic gene Info.Gene symbolHADH
Gene namehydroxyacyl-CoA dehydrogenase
SynonymsHAD|HADH1|HADHSC|HCDH|HHF4|MSCHAD|SCHAD
CytomapUCSC genome browser: 4q22-q26
Type of geneprotein-coding
RefGenesNM_001184705.2,
NM_005327.4,
DescriptionL-3-hydroxyacyl-Coenzyme A dehydrogenase, short chainhydroxyacyl-coenzyme A dehydrogenase, mitochondrialmedium and short-chain L-3-hydroxyacyl-coenzyme A dehydrogenaseshort-chain 3-hydroxyacyl-CoA dehydrogenase
Modification date20141219
dbXrefs MIM : 601609
HGNC : HGNC
Ensembl : ENSG00000138796
Vega : OTTHUMG00000131810
ProteinUniProt: Q16836
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HADH
BioGPS: 3033
PathwayNCI Pathway Interaction Database: HADH
KEGG: HADH
REACTOME: HADH
Pathway Commons: HADH
ContextiHOP: HADH
ligand binding site mutation search in PubMed: HADH
UCL Cancer Institute: HADH
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 HADH

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
L261E259KBRCA1
M256A256TCOAD1
I62,Q58E60DLUAD1
N147N147SLUSC1
M256A256TSTAD1
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 HADH
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
I62E60D-0.5983564
Q58E60D-0.5983564
N147N147S-0.001360246
(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 HADH from PDB

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Differential gene expression and gene-gene network for HADH
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 HADH and the right PPI network was created from samples without mutations in the LBS of HADH. 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 HADH
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0028754Obesity2Biomarker
umls:C0032927Precancerous Conditions1Biomarker

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

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Pharmacological information for HADH
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
ExperimentalDB03059Acetoacetyl-Coenzyme ASmall molecule
ExperimentalDB036123-Hydroxybutyryl-Coenzyme ASmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of HADH
Multiple alignments for Q16836 in multiple species
LBSAA sequence# speciesSpecies
A119DLVVEAIVENL3Homo sapiens, Mus musculus, Rattus norvegicus
A119DLIIEAAIENI1Caenorhabditis elegans
A119DLVIEAIVENI1Caenorhabditis elegans
A252AMKLGAGYPMG4Homo sapiens, Mus musculus, Rattus norvegicus, Caenorhabditis elegans
A252AMKLGAGHPMG1Caenorhabditis elegans
D57TVVLVDQTEDI3Homo sapiens, Mus musculus, Rattus norvegicus
D57NVMLADVNKKA1Caenorhabditis elegans
D57NVTVVDSNQSA1Caenorhabditis elegans
E122VEAIVENLKLK2Mus musculus, Rattus norvegicus
E122VEAIVENLKVK1Homo sapiens
E122IEAAIENIDLK1Caenorhabditis elegans
E122IEAIVENIDIK1Caenorhabditis elegans
F171FAGLHFFNPVP3Homo sapiens, Mus musculus, Rattus norvegicus
F171FGGLHFFNPVP2Caenorhabditis elegans, Caenorhabditis elegans
F172AGLHFFNPVPM2Mus musculus, Rattus norvegicus
F172AGLHFFNPVPV1Homo sapiens
F172GGLHFFNPVPV1Caenorhabditis elegans
F172GGLHFFNPVPM1Caenorhabditis elegans
G251TAMKLGAGYPM3Homo sapiens, Mus musculus, Rattus norvegicus
G251EAMKLGAGHPM1Caenorhabditis elegans
G251VAMKLGAGYPM1Caenorhabditis elegans
G34HVTVIGGGLMG3Homo sapiens, Mus musculus, Rattus norvegicus
G34NVAIVGSGQMG1Caenorhabditis elegans
G34NVTIIGAGLMG1Caenorhabditis elegans
G36TVIGGGLMGAG3Homo sapiens, Mus musculus, Rattus norvegicus
G36AIVGSGQMGSG1Caenorhabditis elegans
G36TIIGAGLMGSG1Caenorhabditis elegans
H170RFAGLHFFNPV3Homo sapiens, Mus musculus, Rattus norvegicus
H170RFGGLHFFNPV2Caenorhabditis elegans, Caenorhabditis elegans
I120LVVEAIVENLK3Homo sapiens, Mus musculus, Rattus norvegicus
I120LIIEAAIENID1Caenorhabditis elegans
I120LVIEAIVENID1Caenorhabditis elegans
I273DTTKFILDGWH2Mus musculus, Rattus norvegicus
I273DTTKFIVDGWH1Homo sapiens
I273DTVKFVMDGWA1Caenorhabditis elegans
I273DTCKFIMDGWH1Caenorhabditis elegans
I33KHVTVIGGGLM3Homo sapiens, Mus musculus, Rattus norvegicus
I33RNVAIVGSGQM1Caenorhabditis elegans
I33NNVTIIGAGLM1Caenorhabditis elegans
I62DQTEDILAKSK3Homo sapiens, Mus musculus, Rattus norvegicus
I62DVNKKALDRAM1Caenorhabditis elegans
I62DSNQSALEKAQ1Caenorhabditis elegans
K127ENLKLKNELFQ2Mus musculus, Rattus norvegicus
K127ENLKVKNELFK1Homo sapiens
K127ENIDLKRGIFA1Caenorhabditis elegans
K127ENIDIKRKLFA1Caenorhabditis elegans
K305KKLGKKTGEGF2Mus musculus, Rattus norvegicus
K305NKFGKKTGEGF1Homo sapiens
K305GKLGRKTGDGF1Caenorhabditis elegans
K305GKNGRKSGEGF1Caenorhabditis elegans
K80KRMAKKKFTEN2Mus musculus, Rattus norvegicus
K80RKVAKKKFAEN1Homo sapiens
K80THLSKKQKGTD1Caenorhabditis elegans
K80KRVAKKKHADD1Caenorhabditis elegans
L223IVNRLLVPYLI2Mus musculus, Rattus norvegicus
L223IVNRLLVPYLM1Homo sapiens
L223IVNRLLIPYFF1Caenorhabditis elegans
L223IVNRLLVPYMF1Caenorhabditis elegans
L261MGPFELLDYVG3Homo sapiens, Mus musculus, Rattus norvegicus
L261MGPFELADYIG1Caenorhabditis elegans
L261MGPFELSDYVG1Caenorhabditis elegans
L37VIGGGLMGAGI3Homo sapiens, Mus musculus, Rattus norvegicus
L37IVGSGQMGSGI1Caenorhabditis elegans
L37IIGAGLMGSGI1Caenorhabditis elegans
M178NPVPMMKLVEV2Mus musculus, Rattus norvegicus
M178NPVPVMKLVEV1Homo sapiens
M178NPVPVMKLLEV1Caenorhabditis elegans
M178NPVPMMKLLEV1Caenorhabditis elegans
M256GAGYPMGPFEL4Homo sapiens, Mus musculus, Rattus norvegicus, Caenorhabditis elegans
M256GAGHPMGPFEL1Caenorhabditis elegans
M38IGGGLMGAGIA3Homo sapiens, Mus musculus, Rattus norvegicus
M38VGSGQMGSGIA1Caenorhabditis elegans
M38IGAGLMGSGIA1Caenorhabditis elegans
N147TIFASNTSSLQ3Homo sapiens, Mus musculus, Rattus norvegicus
N147SILTTNTSSFL1Caenorhabditis elegans
N147TLITTNTSSLR1Caenorhabditis elegans
N173GLHFFNPVPMM3Mus musculus, Rattus norvegicus, Caenorhabditis elegans
N173GLHFFNPVPVM2Homo sapiens, Caenorhabditis elegans
N220PGFIVNRLLVP4Homo sapiens, Mus musculus, Rattus norvegicus, Caenorhabditis elegans
N220PGFIVNRLLIP1Caenorhabditis elegans
P174LHFFNPVPMMK3Mus musculus, Rattus norvegicus, Caenorhabditis elegans
P174LHFFNPVPVMK2Homo sapiens, Caenorhabditis elegans
P176FFNPVPMMKLV2Mus musculus, Rattus norvegicus
P176FFNPVPVMKLV1Homo sapiens
P176FFNPVPVMKLL1Caenorhabditis elegans
P176FFNPVPMMKLL1Caenorhabditis elegans
P255LGAGYPMGPFE4Homo sapiens, Mus musculus, Rattus norvegicus, Caenorhabditis elegans
P255LGAGHPMGPFE1Caenorhabditis elegans
Q58VVLVDQTEDIL3Homo sapiens, Mus musculus, Rattus norvegicus
Q58VMLADVNKKAL1Caenorhabditis elegans
Q58VTVVDSNQSAL1Caenorhabditis elegans
S149FASNTSSLQIT3Homo sapiens, Mus musculus, Rattus norvegicus
S149LTTNTSSFLLE1Caenorhabditis elegans
S149ITTNTSSLRLA1Caenorhabditis elegans
S73KGIEESLKRMA2Mus musculus, Rattus norvegicus
S73KGIEESLRKVA1Homo sapiens
S73KAISQSVTHLS1Caenorhabditis elegans
S73QGIANSLKRVA1Caenorhabditis elegans
T148IFASNTSSLQI3Homo sapiens, Mus musculus, Rattus norvegicus
T148ILTTNTSSFLL1Caenorhabditis elegans
T148LITTNTSSLRL1Caenorhabditis elegans
T269YVGLDTTKFIL2Mus musculus, Rattus norvegicus
T269YVGLDTTKFIV1Homo sapiens
T269YIGLDTVKFVM1Caenorhabditis elegans
T269YVGLDTCKFIM1Caenorhabditis elegans
V121VVEAIVENLKL2Mus musculus, Rattus norvegicus
V121VVEAIVENLKV1Homo sapiens
V121IIEAAIENIDL1Caenorhabditis elegans
V121VIEAIVENIDI1Caenorhabditis elegans
V126VENLKLKNELF2Mus musculus, Rattus norvegicus
V126VENLKVKNELF1Homo sapiens
V126IENIDLKRGIF1Caenorhabditis elegans
V126VENIDIKRKLF1Caenorhabditis elegans
V177FNPVPMMKLVE2Mus musculus, Rattus norvegicus
V177FNPVPVMKLVE1Homo sapiens
V177FNPVPVMKLLE1Caenorhabditis elegans
V177FNPVPMMKLLE1Caenorhabditis elegans
V224VNRLLVPYLIE2Mus musculus, Rattus norvegicus
V224VNRLLVPYLME1Homo sapiens
V224VNRLLIPYFFE1Caenorhabditis elegans
V224VNRLLVPYMFE1Caenorhabditis elegans
V265ELLDYVGLDTT3Homo sapiens, Mus musculus, Rattus norvegicus
V265ELADYIGLDTV1Caenorhabditis elegans
V265ELSDYVGLDTC1Caenorhabditis elegans
V77ESLKRMAKKKF2Mus musculus, Rattus norvegicus
V77ESLRKVAKKKF1Homo sapiens
V77QSVTHLSKKQK1Caenorhabditis elegans
V77NSLKRVAKKKH1Caenorhabditis elegans
Y264FELLDYVGLDT3Homo sapiens, Mus musculus, Rattus norvegicus
Y264FELADYIGLDT1Caenorhabditis elegans
Y264FELSDYVGLDT1Caenorhabditis elegans


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