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 SORD
Gene summary
Basic gene Info.Gene symbolSORD
Gene namesorbitol dehydrogenase
SynonymsHEL-S-95n|SORD1
CytomapUCSC genome browser: 15q15.3
Type of geneprotein-coding
RefGenesNM_003104.5,
NR_034039.1,
DescriptionL-iditol 2-dehydrogenaseepididymis secretory sperm binding protein Li 95n
Modification date20141207
dbXrefs MIM : 182500
HGNC : HGNC
HPRD : 01679
ProteinUniProt: Q00796
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SORD
BioGPS: 6652
PathwayNCI Pathway Interaction Database: SORD
KEGG: SORD
REACTOME: SORD
Pathway Commons: SORD
ContextiHOP: SORD
ligand binding site mutation search in PubMed: SORD
UCL Cancer Institute: SORD
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:0006062sorbitol catabolic process12962626
GO:0046370fructose biosynthetic process3365415
GO:0051160L-xylitol catabolic process8487505
GO:0051164L-xylitol metabolic process3365415


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Ligand binding site mutations for SORD

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
T251T251MKIRC1
I184G185WLUAD1
F298F298LSTAD1
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 SORD
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
F298F298L0.076259606
I184G185W-1.0132519
T251T251M-0.076007597
(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 SORD from PDB

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Differential gene expression and gene-gene network for SORD
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 SORD and the right PPI network was created from samples without mutations in the LBS of SORD. 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 SORD
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0027055Myocardial Reperfusion Injury2Biomarker
umls:C0520459Enterocolitis, Necrotizing1Biomarker

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

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Pharmacological information for SORD
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
ExperimentalDB04478Cp-166572, 2-Hydroxymethyl-4-(4-N,N-Dimethylaminosulfonyl-1-Piperazino)-PyrimidineSmall molecule

Gene-centered ligand-gene interaction network

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


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Conservation information for LBS of SORD
Multiple alignments for Q00796 in multiple species
LBSAA sequence# speciesSpecies
A253FECSGADVCID2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A253IECTGAESSVQ2Mus musculus, Rattus norvegicus
A253IECTGAEASIQ1Homo sapiens
A253VDATGVGICIH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A253FDCAGFNKTMS1Arabidopsis thaliana
A253IECTGVETSIQ1Bos taurus
C250DVVFECSGADV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C250EVTIECTGAES2Mus musculus, Rattus norvegicus
C250EVTIECTGAEA1Homo sapiens
C250DFAVDATGVGI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C250DVTFDCAGFNK1Arabidopsis thaliana
C250EVTIECTGVET1Bos taurus
C45HSVGICGSDVH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C45KATGICGSDIH2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
C45KATGICGSDVH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C45KAVGICGSDVH1Arabidopsis thaliana
D204DVIFVDVFDNK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D204QVVVTDLSASR2Mus musculus, Bos taurus
D204QVVVTDLSATR1Homo sapiens
D204DIVAVDASPSR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D204RIVIVDVDENR1Arabidopsis thaliana
D204QVVVIDLSASR1Rattus norvegicus
E156EGALIEPLSVG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E156EGACVEPLSVG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E156EGALFEPMSVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E156EGAMCEPLSVG1Arabidopsis thaliana
E71MVLGHEASGTV2Homo sapiens, Bos taurus
E71MVLGHESSGQV2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E71MVLGHEAAGTV2Mus musculus, Rattus norvegicus
E71MILGHESAGVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E71MVIGHECAGII1Arabidopsis thaliana
F119CPHMAFAATPP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F119SPSIFFCATPP1Homo sapiens
F119CPHMEFAATPP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F119CPEMKFFATPP1Arabidopsis thaliana
F119TPTIFFCATPP1Mus musculus
F119TPSIFFCATPP1Rattus norvegicus
F119SPTIFFCATPP1Bos taurus
F298DIKGVFRYC-N4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F298KLIGCFRYSFG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F298NVLGSFRYAHG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F298DVVGVFRYK-N1Arabidopsis thaliana
F60GRIGDFVVKKP3Mus musculus, Rattus norvegicus, Bos taurus
F60GGIGKYILKAP2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F60GRIGNFIVKKP1Homo sapiens
F60GGIGDFILKKP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F60MRCADFVVKEP1Arabidopsis thaliana
G182VVFGAGPVGLL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G182LVCGAGPIGMV1Homo sapiens
G182LVMGCGTVGLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G182LVMGAGPIGLV1Arabidopsis thaliana
G182LVCGAGPVGMV1Mus musculus
G182LVCGAGPIGIV1Rattus norvegicus
G182LVCGAGPIGLV1Bos taurus
G274TMVQVGMGKNY2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G274NLVLVGLGSEM1Homo sapiens
G274TFVQAGNGKPV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G274KVCLVGMGHGI1Arabidopsis thaliana
G274TLVIVGMGAEM1Mus musculus
G274TLVVVGMGPEM1Rattus norvegicus
G274TLVLVGLGSEM1Bos taurus
H70PMVLGHEASGT2Homo sapiens, Bos taurus
H70PMVLGHESSGQ2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H70PMVLGHEAAGT2Mus musculus, Rattus norvegicus
H70PMILGHESAGV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H70PMVIGHECAGI1Arabidopsis thaliana
I184FGAGPVGLLTG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I184CGAGPIGMVTL1Homo sapiens
I184MGCGTVGLLMM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I184MGAGPIGLVTM1Arabidopsis thaliana
I184CGAGPVGMVTL1Mus musculus
I184CGAGPIGIVTL1Rattus norvegicus
I184CGAGPIGLVSL1Bos taurus
I224FNSSQFSTDKA2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I224L---QISKESP1Homo sapiens
I224TPIAAKENESL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I224V---QVTTN-L1Arabidopsis thaliana
I224I---QVGKETP1Mus musculus
I224I---QVAKETP1Rattus norvegicus
I224L---QISNESP1Bos taurus
I57YRSGGIGKYIL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I57WEHGRIGDFVV2Mus musculus, Rattus norvegicus
I57WEYGRIGNFIV1Homo sapiens
I57WKEGGIGDFIL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I57LKTMRCADFVV1Arabidopsis thaliana
I57WQHGRIGDFVV1Bos taurus
L205VIFVDVFDNKL2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L205VVVTDLSASRL2Mus musculus, Bos taurus
L205VVVTDLSATRL1Homo sapiens
L205IVAVDASPSRV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L205IVIVDVDENRL1Arabidopsis thaliana
L205VVVIDLSASRL1Rattus norvegicus
L275LVLVGLGSEMT2Homo sapiens, Bos taurus
L275MVQVGMGKNYT2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L275FVQAGNGKPVI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L275VCLVGMGHGIM1Arabidopsis thaliana
L275LVIVGMGAEMV1Mus musculus
L275LVVVGMGPEMI1Rattus norvegicus
P183VFGAGPVGLLT2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P183VCGAGPIGMVT1Homo sapiens
P183VMGCGTVGLLM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P183VMGAGPIGLVT1Arabidopsis thaliana
P183VCGAGPVGMVT1Mus musculus
P183VCGAGPIGIVT1Rattus norvegicus
P183VCGAGPIGLVS1Bos taurus
R209DVFDNKLQRAK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R209DLSATRLSKAK1Homo sapiens
R209DASPSRVEFAQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R209DVDENRLAVAK1Arabidopsis thaliana
R209DLSASRLTKAK1Mus musculus
R209DLSASRLAKAK1Rattus norvegicus
R209DLSASRLSKAK1Bos taurus
R299IKGVFRYC-NT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R299LIGCFRYSFGD2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R299VLGSFRYAHGC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R299VVGVFRYK-NT1Arabidopsis thaliana
S47VGICGSDVHYW4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S47TGICGSDIHYY2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S47TGICGSDVHYW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S47VGICGSDVHYL1Arabidopsis thaliana
T122IFFCATPPDDG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T122MAFAATPPIDG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T122MEFAATPPYDG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T122MKFFATPPVHG1Arabidopsis thaliana
T251VVFECSGADVC2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T251VTIECTGAESS2Mus musculus, Rattus norvegicus
T251VTIECTGAEAS1Homo sapiens
T251FAVDATGVGIC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T251VTFDCAGFNKT1Arabidopsis thaliana
T251VTIECTGVETS1Bos taurus
V160IEPLSVGIHAC2Homo sapiens, Bos taurus
V160VEPLSVGVHSN2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V160IEPLSVGIYAC2Mus musculus, Rattus norvegicus
V160FEPMSVAVHAM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V160CEPLSVGVHAC1Arabidopsis thaliana
V273GTMVQVGMGKN2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V273GNLVLVGLGSE1Homo sapiens
V273GTFVQAGNGKP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V273GKVCLVGMGHG1Arabidopsis thaliana
V273GTLVIVGMGAE1Mus musculus
V273GTLVVVGMGPE1Rattus norvegicus
V273GTLVLVGLGSE1Bos taurus
V297VDIKGVFRYC-4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V297MKLIGCFRYSF2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V297INVLGSFRYAH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V297VDVVGVFRYK-1Arabidopsis thaliana
Y51GSDIHYYRSGG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y51GSDVHYWEHGR2Mus musculus, Rattus norvegicus
Y51GSDVHYWEYGR1Homo sapiens
Y51GSDVHYWKEGG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y51GSDVHYLKTMR1Arabidopsis thaliana
Y51GSDVHYWQHGR1Bos taurus


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