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 DBI
Gene summary
Basic gene Info.Gene symbolDBI
Gene namediazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)
SynonymsACBD1|ACBP|CCK-RP|EP
CytomapUCSC genome browser: 2q12-q21
Type of geneprotein-coding
RefGenesNM_001079862.2,
NM_001079863.1,NM_001178017.1,NM_001178041.2,NM_001178042.2,
NM_001178043.2,NM_001282633.1,NM_001282634.1,NM_001282635.1,
NM_001282636.1,NM_020548.7,NR_104221.1,
DescriptionGABA receptor modulatoracyl coenzyme A binding proteinacyl-CoA-binding proteinacyl-Coenzyme A binding domain containing 1cholecystokinin-releasing peptide, trypsin-sensitivediazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding
Modification date20141207
dbXrefs MIM : 125950
HGNC : HGNC
Ensembl : ENSG00000155368
HPRD : 08832
Vega : OTTHUMG00000131403
ProteinUniProt: P07108
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DBI
BioGPS: 1622
PathwayNCI Pathway Interaction Database: DBI
KEGG: DBI
REACTOME: DBI
Pathway Commons: DBI
ContextiHOP: DBI
ligand binding site mutation search in PubMed: DBI
UCL Cancer Institute: DBI
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:0018345protein palmitoylation21079819
GO:0036151phosphatidylcholine acyl-chain remodeling21079819


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Ligand binding site mutations for DBI

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E11E11KBLCA1
K55D57NBLCA1
Y74A73GLUSC1
A10A10SLUSC1
A10A10SOV1
E11,V13E12KSKCM1
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 DBI
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
Y74A73G-1.3442226
A10A10S-0.93042904
E11E11K-0.7587865
K55D57N-0.64389083
V13E12K-0.32373222
E11E12K-0.32373222
(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 DBI from PDB

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Differential gene expression and gene-gene network for DBI
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 DBI and the right PPI network was created from samples without mutations in the LBS of DBI. 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 DBI
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0007097Carcinoma1Biomarker
umls:C0024667Mammary Neoplasms, Animal1Biomarker
umls:C0024668Mammary Neoplasms, Experimental1Biomarker

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

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Pharmacological information for DBI
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
NutraceuticalDB01992Coenzyme ASmall molecule
ExperimentalDB03381HexadecanalSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DBI go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MYAMYRISTOYL-COA2cb8AA10 K55 Y74
MYAMYRISTOYL-COA2cb8BA10 K55 Y74
ZNZINC(2+)2cb8BE11
ZNZINC(2+)2fj9AE11
MYAMYRISTOYL-COA2cb8BV13


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Conservation information for LBS of DBI
Multiple alignments for P07108 in multiple species
LBSAA sequence# speciesSpecies
A10EFEKAAEEVRH1Homo sapiens
A10EFDKAAEEVKR1Mus musculus
A10DFDKAAEEVKR1Rattus norvegicus
A10EFDKAAEEVKH1Bos taurus
A10LFEEKAKAVNE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
A10QFNAAAEKVKS1Drosophila melanogaster
A10SFDDAAATVKT1Caenorhabditis elegans
A10TFEQAAADVKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D22KTQPTDEEMLF2Mus musculus, Rattus norvegicus
D22KTKPSDEEMLF1Homo sapiens
D22KTKPADEEMLF1Bos taurus
D22PTKPSTDELLE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D22TKRPSDDEFLQ1Drosophila melanogaster
D22KTSPSNDELLK1Caenorhabditis elegans
D22KETPNSDELLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E11FDKAAEEVKRL2Mus musculus, Rattus norvegicus
E11FEKAAEEVRHL1Homo sapiens
E11FDKAAEEVKHL1Bos taurus
E11FEEKAKAVNEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E11FNAAAEKVKSL1Drosophila melanogaster
E11FDDAAATVKTL1Caenorhabditis elegans
E11FEQAAADVKEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E68KGTSKEDAMKA2Homo sapiens, Bos taurus
E68KGTSKESAMKT1Mus musculus
E68KGTSKENAMKT1Rattus norvegicus
E68KGKSQEDAEKE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E68KGKSSEAAQQE1Drosophila melanogaster
E68KGLAKDDAQKA1Caenorhabditis elegans
E68KGKSKEDAASE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H15AEEVKRLKTQP2Mus musculus, Rattus norvegicus
H15AEEVRHLKTKP1Homo sapiens
H15AEEVKHLKTKP1Bos taurus
H15AKAVNELPTKP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H15AEKVKSLTKRP1Drosophila melanogaster
H15AATVKTLKTSP1Caenorhabditis elegans
H15AADVKELKETP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I28EEMLFIYSHFK2Mus musculus, Rattus norvegicus
I28DELLKLYALFK2Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I28EEMLFIYGHYK1Homo sapiens
I28EEMLFIYSHYK1Bos taurus
I28DELLELYALYK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I28DEFLQLYALFK1Drosophila melanogaster
K19KRLKTQPTDEE2Mus musculus, Rattus norvegicus
K19RHLKTKPSDEE1Homo sapiens
K19KHLKTKPADEE1Bos taurus
K19NELPTKPSTDE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K19KSLTKRPSDDE1Drosophila melanogaster
K19KTLKTSPSNDE1Caenorhabditis elegans
K19KELKETPNSDE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K33IYSHFKQATVG2Mus musculus, Rattus norvegicus
K33IYGHYKQATVG1Homo sapiens
K33IYSHYKQATVG1Bos taurus
K33LYALYKQATVG1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K33LYALFKQASVG1Drosophila melanogaster
K33LYALFKQGTVG1Caenorhabditis elegans
K33LYALFKQATVG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K55LKGKAKWDSWN2Mus musculus, Rattus norvegicus
K55FTGKAKWDAWN1Homo sapiens
K55FKGKAKWDAWN1Bos taurus
K55MKDRYKWEAWE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K55LKGKAKWEAWN1Drosophila melanogaster
K55LKGKAKWSAWD1Caenorhabditis elegans
K55LKGKFKWNAWE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L16EEVKRLKTQPT2Mus musculus, Rattus norvegicus
L16EEVRHLKTKPS1Homo sapiens
L16EEVKHLKTKPA1Bos taurus
L16KAVNELPTKPS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L16EKVKSLTKRPS1Drosophila melanogaster
L16ATVKTLKTSPS1Caenorhabditis elegans
L16ADVKELKETPN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L26TDEEMLFIYSH2Mus musculus, Rattus norvegicus
L26SDEEMLFIYGH1Homo sapiens
L26ADEEMLFIYSH1Bos taurus
L26STDELLELYAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L26SDDEFLQLYAL1Drosophila melanogaster
L26SNDELLKLYAL1Caenorhabditis elegans
L26NSDELLKLYAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M25PTDEEMLFIYS2Mus musculus, Rattus norvegicus
M25PSDEEMLFIYG1Homo sapiens
M25PADEEMLFIYS1Bos taurus
M25PSTDELLELYA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
M25PSDDEFLQLYA1Drosophila melanogaster
M25PSNDELLKLYA1Caenorhabditis elegans
M25PNSDELLKLYA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P20RLKTQPTDEEM2Mus musculus, Rattus norvegicus
P20HLKTKPSDEEM1Homo sapiens
P20HLKTKPADEEM1Bos taurus
P20ELPTKPSTDEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P20SLTKRPSDDEF1Drosophila melanogaster
P20TLKTSPSNDEL1Caenorhabditis elegans
P20ELKETPNSDEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R14AAEEVKRLKTQ2Mus musculus, Rattus norvegicus
R14AAEEVRHLKTK1Homo sapiens
R14AAEEVKHLKTK1Bos taurus
R14KAKAVNELPTK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
R14AAEKVKSLTKR1Drosophila melanogaster
R14AAATVKTLKTS1Caenorhabditis elegans
R14AAADVKELKET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S28Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Drosophila melanogaster, Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T18VKRLKTQPTDE2Mus musculus, Rattus norvegicus
T18VRHLKTKPSDE1Homo sapiens
T18VKHLKTKPADE1Bos taurus
T18VNELPTKPSTD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T18VKSLTKRPSDD1Drosophila melanogaster
T18VKTLKTSPSND1Caenorhabditis elegans
T18VKELKETPNSD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T51GLLDLKGKAKW3Mus musculus, Rattus norvegicus, Drosophila melanogaster
T51GMLDFTGKAKW1Homo sapiens
T51GMLDFKGKAKW1Bos taurus
T51GIFNMKDRYKW1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T51GMFDLKGKAKW1Caenorhabditis elegans
T51GLLDLKGKFKW1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V13KAAEEVKRLKT2Mus musculus, Rattus norvegicus
V13KAAEEVRHLKT1Homo sapiens
V13KAAEEVKHLKT1Bos taurus
V13EKAKAVNELPT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V13AAAEKVKSLTK1Drosophila melanogaster
V13DAAATVKTLKT1Caenorhabditis elegans
V13QAAADVKELKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y29EMLFIYSHFKQ2Mus musculus, Rattus norvegicus
Y29ELLKLYALFKQ2Caenorhabditis elegans, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y29EMLFIYGHYKQ1Homo sapiens
Y29EMLFIYSHYKQ1Bos taurus
Y29ELLELYALYKQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y29EFLQLYALFKQ1Drosophila melanogaster
Y32FIYSHFKQATV2Mus musculus, Rattus norvegicus
Y32FIYGHYKQATV1Homo sapiens
Y32FIYSHYKQATV1Bos taurus
Y32ELYALYKQATV1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y32QLYALFKQASV1Drosophila melanogaster
Y32KLYALFKQGTV1Caenorhabditis elegans
Y32KLYALFKQATV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y74DAMKAYINKVE1Homo sapiens
Y74SAMKTYVEKVD1Mus musculus
Y74NAMKTYVEKVE1Rattus norvegicus
Y74DAMKAYIDKVE1Bos taurus
Y74DAEKEYIALVD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y74AAQQEYITFVE1Drosophila melanogaster
Y74DAQKAYVALVE1Caenorhabditis elegans
Y74DAASEYISFVD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)


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