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 HSD17B10
Gene summary
Basic gene Info.Gene symbolHSD17B10
Gene namehydroxysteroid (17-beta) dehydrogenase 10
Synonyms17b-HSD10|ABAD|CAMR|DUPXp11.22|ERAB|HADH2|HCD2|MHBD|MRPP2|MRX17|MRX31|MRXS10|SCHAD|SDR5C1
CytomapUCSC genome browser: Xp11.2
Type of geneprotein-coding
RefGenesNM_001037811.2,
NM_004493.2,
Description3-hydroxy-2-methylbutyryl-CoA dehydrogenase3-hydroxyacyl-CoA dehydrogenase type-2AB-binding alcohol dehydrogenaseamyloid-beta peptide binding alcohol dehydrogenaseendoplasmic reticulum-associated amyloid beta-peptide-binding proteinmitochondrial RNas
Modification date20141207
dbXrefs MIM : 300256
HGNC : HGNC
Ensembl : ENSG00000072506
HPRD : 02223
Vega : OTTHUMG00000021612
ProteinUniProt: Q99714
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HSD17B10
BioGPS: 3028
PathwayNCI Pathway Interaction Database: HSD17B10
KEGG: HSD17B10
REACTOME: HSD17B10
Pathway Commons: HSD17B10
ContextiHOP: HSD17B10
ligand binding site mutation search in PubMed: HSD17B10
UCL Cancer Institute: HSD17B10
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 HSD17B10

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C91C91WLUAD1
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 HSD17B10
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
C91C91W-0.60278373
(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 HSD17B10 from PDB

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Differential gene expression and gene-gene network for HSD17B10
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 HSD17B10 and the right PPI network was created from samples without mutations in the LBS of HSD17B10. 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 HSD17B10
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1845517Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency3Biomarker, GeneticVariation
umls:C1846168Mental Retardation, X-Linked, Syndromic 101Biomarker, GeneticVariation
umls:C0152013Adenocarcinoma of lung1Biomarker

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

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Pharmacological information for HSD17B10
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
ExperimentalDB028201-Azepan-1-Yl-2-Phenyl-2-(4-Thioxo-1,4-Dihydro-Pyrazolo[3,4-D]Pyrimidin-5-Yl)Ethanone AdductSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of HSD17B10 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
TDT1-AZEPAN-1-YL-2-PHENYL-2-(4-THIOXO-1,4-DIHYDRO-PYRAZOLO[3,4-D]PYRIMIDIN-5-YL)ETHANONE ADDUCT1u7tAC91
NADNAD ZWITTERION1u7tBC91
TDT1-AZEPAN-1-YL-2-PHENYL-2-(4-THIOXO-1,4-DIHYDRO-PYRAZOLO[3,4-D]PYRIMIDIN-5-YL)ETHANONE ADDUCT1u7tCC91
TDT1-AZEPAN-1-YL-2-PHENYL-2-(4-THIOXO-1,4-DIHYDRO-PYRAZOLO[3,4-D]PYRIMIDIN-5-YL)ETHANONE ADDUCT1u7tDC91
NADNAD ZWITTERION2o23AC91
NADNAD ZWITTERION2o23BC91


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Conservation information for LBS of HSD17B10
Multiple alignments for Q99714 in multiple species
LBSAA sequence# speciesSpecies
A154VIINTASVAAF3Homo sapiens, Rattus norvegicus, Bos taurus
A154VIVNTASVAAF1Drosophila melanogaster
A63CVFAPADVTSE1Homo sapiens
A63VVFVPVDVTSE1Drosophila melanogaster
A63CIFAPANVTSE1Rattus norvegicus
A63CAFAPADVTSE1Bos taurus
A92VAVNCAGIAVA3Homo sapiens, Rattus norvegicus, Bos taurus
A92LTVNCAGTATA1Drosophila melanogaster
A95NCAGIAVASKT2Homo sapiens, Bos taurus
A95NCAGTATAVKT1Drosophila melanogaster
A95NCAGIAVAIKT1Rattus norvegicus
A97AGIAVASKTYN2Homo sapiens, Bos taurus
A97AGTATAVKTFN1Drosophila melanogaster
A97AGIAVAIKTYH1Rattus norvegicus
C91DVAVNCAGIAV3Homo sapiens, Rattus norvegicus, Bos taurus
C91DLTVNCAGTAT1Drosophila melanogaster
D41SAVLLDLPNSG1Homo sapiens
D41SVILADLPSSK1Drosophila melanogaster
D41TAVLLDVPNSE1Rattus norvegicus
D41TAVLLDLPNSD1Bos taurus
D64VFAPADVTSEK1Homo sapiens
D64VFVPVDVTSEK1Drosophila melanogaster
D64IFAPANVTSEK1Rattus norvegicus
D64AFAPADVTSEK1Bos taurus
F201IAPGLFGTPLL2Homo sapiens, Bos taurus
F201IAPGLFNTPML1Drosophila melanogaster
F201IAPGLFATPLL1Rattus norvegicus
G17VAVITGGASGL2Homo sapiens, Rattus norvegicus
G17VSLVTGGASGL1Drosophila melanogaster
G17VALITGGASGL1Bos taurus
G199MTIAPGLFGTP2Homo sapiens, Bos taurus
G199CTIAPGLFNTP1Drosophila melanogaster
G199VTIAPGLFATP1Rattus norvegicus
G21TGGASGLGLAT2Homo sapiens, Bos taurus
G21TGGASGLGRAT1Drosophila melanogaster
G21TGGASGLGLST1Rattus norvegicus
G93AVNCAGIAVAS2Homo sapiens, Bos taurus
G93TVNCAGTATAV1Drosophila melanogaster
G93AVNCAGIAVAI1Rattus norvegicus
K172AYSASKGGIVG3Homo sapiens, Rattus norvegicus, Bos taurus
K172AYSASKAAVVG1Drosophila melanogaster
L200TIAPGLFGTPL2Homo sapiens, Bos taurus
L200TIAPGLFNTPM1Drosophila melanogaster
L200TIAPGLFATPL1Rattus norvegicus
L205LFGTPLLTSLP1Homo sapiens
L205LFNTPMLAALP1Drosophila melanogaster
L205LFATPLLTTLP1Rattus norvegicus
L205LFGTPLLTTLP1Bos taurus
L206FGTPLLTSLPE1Homo sapiens
L206FNTPMLAALPE1Drosophila melanogaster
L206FATPLLTTLPD1Rattus norvegicus
L206FGTPLLTTLPD1Bos taurus
L209PLLTTLPDKVR2Rattus norvegicus, Bos taurus
L209PLLTSLPEKVC1Homo sapiens
L209PMLAALPEKVR1Drosophila melanogaster
L217KVRNFLASQVP2Rattus norvegicus, Bos taurus
L217KVCNFLASQVP1Homo sapiens
L217KVRTFLAKSIP1Drosophila melanogaster
L22GGASGLGLATA2Homo sapiens, Bos taurus
L22GGASGLGRATA1Drosophila melanogaster
L22GGASGLGLSTA1Rattus norvegicus
L42AVLLDLPNSGG1Homo sapiens
L42VILADLPSSKG1Drosophila melanogaster
L42AVLLDVPNSEG1Rattus norvegicus
L42AVLLDLPNSDG1Bos taurus
P198VMTIAPGLFGT2Homo sapiens, Bos taurus
P198ICTIAPGLFNT1Drosophila melanogaster
P198VVTIAPGLFAT1Rattus norvegicus
P204GLFGTPLLTSL1Homo sapiens
P204GLFNTPMLAAL1Drosophila melanogaster
P204GLFATPLLTTL1Rattus norvegicus
P204GLFGTPLLTTL1Bos taurus
Q162AAFEGQVGQAA3Homo sapiens, Rattus norvegicus, Bos taurus
Q162AAFDGQIGQAA1Drosophila melanogaster
Q165EGQVGQAAYSA3Homo sapiens, Rattus norvegicus, Bos taurus
Q165DGQIGQAAYSA1Drosophila melanogaster
S155IINTASVAAFE3Homo sapiens, Rattus norvegicus, Bos taurus
S155IVNTASVAAFD1Drosophila melanogaster
S20ITGGASGLGLA2Homo sapiens, Bos taurus
S20VTGGASGLGRA1Drosophila melanogaster
S20ITGGASGLGLS1Rattus norvegicus
T153GVIINTASVAA3Homo sapiens, Rattus norvegicus, Bos taurus
T153GVIVNTASVAA1Drosophila melanogaster
T203PGLFGTPLLTS1Homo sapiens
T203PGLFNTPMLAA1Drosophila melanogaster
T203PGLFATPLLTT1Rattus norvegicus
T203PGLFGTPLLTT1Bos taurus
V120QRVINVNLIGT2Rattus norvegicus, Bos taurus
V120QRVLDVNLMGT1Homo sapiens
V120QRVININTVGT1Drosophila melanogaster
V163AFEGQVGQAAY3Homo sapiens, Rattus norvegicus, Bos taurus
V163AFDGQIGQAAY1Drosophila melanogaster
V65FAPADVTSEKD2Homo sapiens, Bos taurus
V65FVPVDVTSEKD1Drosophila melanogaster
V65FAPANVTSEKE1Rattus norvegicus
V96CAGIAVASKTY2Homo sapiens, Bos taurus
V96CAGTATAVKTF1Drosophila melanogaster
V96CAGIAVAIKTY1Rattus norvegicus
Y168VGQAAYSASKG3Homo sapiens, Rattus norvegicus, Bos taurus
Y168IGQAAYSASKA1Drosophila melanogaster


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