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 BLVRB
Gene summary
Basic gene Info.Gene symbolBLVRB
Gene namebiliverdin reductase B
SynonymsBVRB|FLR|HEL-S-10|SDR43U1
CytomapUCSC genome browser: 19q13.1-q13.2
Type of geneprotein-coding
RefGenesNM_000713.2,
DescriptionBVR-BFRGHBPNADPH-dependent diaphoraseNADPH-flavin reductasebiliverdin reductase B (flavin reductase (NADPH))biliverdin-IX beta-reductaseepididymis secretory protein Li 10flavin reductase (NADPH)green heme-binding proteinshort chain dehydrogenase
Modification date20141207
dbXrefs MIM : 600941
HGNC : HGNC
Ensembl : ENSG00000090013
HPRD : 02967
Vega : OTTHUMG00000182593
ProteinUniProt: P30043
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_BLVRB
BioGPS: 645
PathwayNCI Pathway Interaction Database: BLVRB
KEGG: BLVRB
REACTOME: BLVRB
Pathway Commons: BLVRB
ContextiHOP: BLVRB
ligand binding site mutation search in PubMed: BLVRB
UCL Cancer Institute: BLVRB
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:0042167heme catabolic process7929092


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Ligand binding site mutations for BLVRB
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
V128A127SBRCA1
H132R134WCOAD1
H132D131NLUAD1
R174P172HSKCM1
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 BLVRB
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
H132D131N-1.3838637
V128A127S-1.3189895
R174P172H-1.2518224
H132R134W-1.028904
(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 BLVRB from PDB

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Differential gene expression and gene-gene network for BLVRB
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 BLVRB and the right PPI network was created from samples without mutations in the LBS of BLVRB. 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 BLVRB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0279626Esophageal Squamous Cell Carcinoma1Biomarker
umls:C0038356Stomach Neoplasms1Biomarker

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

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Pharmacological information for BLVRB
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
Approved|nutraceutical|vet_approvedDB00140RiboflavinSmall molecule
NutraceuticalDB00157NADHSmall molecule
ExperimentalDB02073Biliverdine Ix AlphaSmall molecule
ExperimentalDB03247Riboflavin MonophosphateSmall molecule
ExperimentalDB034612'-Monophosphoadenosine 5'-DiphosphoriboseSmall molecule
ExperimentalDB043457,8-dimethylalloxazineSmall molecule
ExperimentalDB04363Mesobiliverdin Iv AlphaSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of BLVRB go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NAPNADP ZWITTERION1hdoAH132
NAPNADP ZWITTERION1he2AH132
NAPNADP ZWITTERION1he3AH132
NAPNADP ZWITTERION1he4AH132
NAPNADP ZWITTERION1he5AH132
BLABILIVERDIN1he2AH132 R174
MBVMESOBILIVERDIN IV ALPHA1he3AH132 R174
LUMLUMICHROME1he5AV128 H132


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Conservation information for LBS of BLVRB
Multiple alignments for P30043 in multiple species
LBSAA sequence# speciesSpecies
A112VACTSAFLLWD3Homo sapiens, Bos taurus, Mus musculus
C109DKVVACTSAFL3Homo sapiens, Bos taurus, Mus musculus
D54HVVVGDVLQAA1Homo sapiens
D54HVVVGDVRQPA1Bos taurus
D54HVVVGDVRQAA1Mus musculus
D80LGTRNDLSPTT2Homo sapiens, Bos taurus
D80LGTGNDLSPTT1Mus musculus
F113ACTSAFLLWDP3Homo sapiens, Bos taurus, Mus musculus
G10KIAIFGATGQT1Homo sapiens
G10KIALFGATGNT1Bos taurus
G10KIAIFGATGRT1Mus musculus
G13IFGATGQTGLT1Homo sapiens
G13LFGATGNTGLT1Bos taurus
G13IFGATGRTGLT1Mus musculus
G76VIVLLGTRNDL2Homo sapiens, Bos taurus
G76VIVLLGTGNDL1Mus musculus
H132DVTDDHIRMHK2Bos taurus, Mus musculus
H132AVTDDHIRMHK1Homo sapiens
H153AVMPPHIGDQP2Homo sapiens, Mus musculus
H153AVMPPHIGDHP1Bos taurus
I154VMPPHIGDQPL2Homo sapiens, Mus musculus
I154VMPPHIGDHPL1Bos taurus
L125KVPPRLQDVTD2Bos taurus, Mus musculus
L125KVPPRLQAVTD1Homo sapiens
L74DAVIVLLGTRN2Homo sapiens, Bos taurus
L74EAVIVLLGTGN1Mus musculus
L75AVIVLLGTRND2Homo sapiens, Bos taurus
L75AVIVLLGTGND1Mus musculus
L81GTRNDLSPTTV2Homo sapiens, Bos taurus
L81GTGNDLSPTTV1Mus musculus
M87SPTTVMSEGAR1Homo sapiens
M87SPTTVMSEGAQ1Bos taurus
M87SPTTVMSEGTR1Mus musculus
N79LLGTRNDLSPT2Homo sapiens, Bos taurus
N79LLGTGNDLSPT1Mus musculus
P151YVAVMPPHIGD3Homo sapiens, Bos taurus, Mus musculus
P152VAVMPPHIGDQ2Homo sapiens, Mus musculus
P152VAVMPPHIGDH1Bos taurus
Q14FGATGQTGLTT1Homo sapiens
Q14FGATGNTGLTT1Bos taurus
Q14FGATGRTGLTT1Mus musculus
R124TKVPPRLQAVT1Homo sapiens
R124SKVPPRLQDVT1Bos taurus
R124TKVPPRLQDVT1Mus musculus
R174GRGPSRVISKH3Homo sapiens, Bos taurus, Mus musculus
R35VTVLVRDSSRL2Homo sapiens, Mus musculus
R35VTVLVRDPSRL1Bos taurus
R39VRDSSRLPSEG2Homo sapiens, Mus musculus
R39VRDPSRLPSEG1Bos taurus
R78VLLGTRNDLSP2Homo sapiens, Bos taurus
R78VLLGTGNDLSP1Mus musculus
S111VVACTSAFLLW3Homo sapiens, Bos taurus, Mus musculus
T110KVVACTSAFLL3Homo sapiens, Bos taurus, Mus musculus
T12AIFGATGQTGL1Homo sapiens
T12ALFGATGNTGL1Bos taurus
T12AIFGATGRTGL1Mus musculus
T15GATGQTGLTTL1Homo sapiens
T15GATGNTGLTTL1Bos taurus
T15GATGRTGLTTL1Mus musculus
T77IVLLGTRNDLS2Homo sapiens, Bos taurus
T77IVLLGTGNDLS1Mus musculus
V128PRLQDVTDDHI2Bos taurus, Mus musculus
V128PRLQAVTDDHI1Homo sapiens
V55VVVGDVLQAAD1Homo sapiens
V55VVVGDVRQPAD1Bos taurus
V55VVVGDVRQAAD1Mus musculus
V86LSPTTVMSEGA2Homo sapiens, Bos taurus
V86LSPTTVMSEGT1Mus musculus
W116SAFLLWDPTKV2Homo sapiens, Mus musculus
W116SAFLLWDPSKV1Bos taurus


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