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 VNN1
Gene summary
Basic gene Info.Gene symbolVNN1
Gene namevanin 1
SynonymsHDLCQ8|Tiff66
CytomapUCSC genome browser: 6q23-q24
Type of geneprotein-coding
RefGenesNM_004666.2,
Descriptionpantetheinasepantetheine hydrolasevanin-1vannin 1vascular non-inflammatory molecule 1
Modification date20141207
dbXrefs MIM : 603570
HGNC : HGNC
Ensembl : ENSG00000112299
HPRD : 04651
Vega : OTTHUMG00000015587
ProteinUniProt: O95497
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_VNN1
BioGPS: 8876
PathwayNCI Pathway Interaction Database: VNN1
KEGG: VNN1
REACTOME: VNN1
Pathway Commons: VNN1
ContextiHOP: VNN1
ligand binding site mutation search in PubMed: VNN1
UCL Cancer Institute: VNN1
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:0015939pantothenate metabolic process11491533


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Ligand binding site mutations for VNN1
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
E79P78SLUAD1
M239M239ILUAD1
F338D340NUCEC1
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 VNN1
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
F338D340N-0.84922032
M239M239I-0.38739164
E79P78S-0.29942138
(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 VNN1 from PDB

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Differential gene expression and gene-gene network for VNN1
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 VNN1 and the right PPI network was created from samples without mutations in the LBS of VNN1. 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 VNN1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0021390Inflammatory Bowel Diseases2Biomarker, Therapeutic
umls:C0033860Psoriasis1Biomarker
umls:C0011615Dermatitis, Atopic1Biomarker
umls:C0242339Dyslipidemias1Biomarker

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

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Pharmacological information for VNN1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of VNN1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
RRV(2R)-2,4-DIHYDROXY-N-[(3S)-3-HYDROXY-4- PHENYLBUTYL]-3,3-DIMETHYLBUTANAMIDE4cygAE79 M239 F338
RRV(2R)-2,4-DIHYDROXY-N-[(3S)-3-HYDROXY-4- PHENYLBUTYL]-3,3-DIMETHYLBUTANAMIDE4cygBE79 M239 F338


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Conservation information for LBS of VNN1
Multiple alignments for O95497 in multiple species
LBSAA sequence# speciesSpecies
A237IVFPTAWMNVL2Homo sapiens, Canis lupus familiaris
A237ILFPTAWMDVL1Mus musculus
A237ILFPTAWMNVL1Bos taurus
C211FGIFTCFDILF2Homo sapiens, Bos taurus
C211FGVFTCFDILF2Mus musculus, Canis lupus familiaris
E185NLFMGENQFNV2Homo sapiens, Canis lupus familiaris
E185NIFMGEDQFNV1Mus musculus
E185NLFLNEDQFNA1Bos taurus
E390GLHTVEGRYYL1Homo sapiens
E390GLHTVEGQYYL1Mus musculus
E390GLHVVEGRYYL1Canis lupus familiaris
E390GLHTVEGSYYL1Bos taurus
E79IIVTPEDGIYG3Mus musculus, Canis lupus familiaris, Bos taurus
E79IIVTPEDAIYG1Homo sapiens
F182HKQNLFMGENQ1Homo sapiens
F182HKQNIFMGEDQ1Mus musculus
F182HKHNLFMGENQ1Canis lupus familiaris
F182HKQNLFLNEDQ1Bos taurus
F212GIFTCFDILFH2Homo sapiens, Bos taurus
F212GVFTCFDILFH1Mus musculus
F212GVFTCFDILFY1Canis lupus familiaris
F338FKGTVFFDEFT1Homo sapiens
F338FQSIVFFDEFT1Mus musculus
F338FTGTAFFDEFT1Canis lupus familiaris
F338FTGIIFFDEFT1Bos taurus
K178VARYHKQNLFM1Homo sapiens
K178VARYHKQNIFM1Mus musculus
K178VARYHKHNLFM1Canis lupus familiaris
K178VARYHKQNLFL1Bos taurus
M239FPTAWMNVLPH3Homo sapiens, Canis lupus familiaris, Bos taurus
M239FPTAWMDVLPH1Mus musculus
M274YPSKKMTGSGI1Homo sapiens
M274NPSRRMTGSGI1Mus musculus
M274HPSKRMTGSGI1Canis lupus familiaris
M274YPLKKMTGSGI1Bos taurus
W238VFPTAWMNVLP2Homo sapiens, Canis lupus familiaris
W238LFPTAWMDVLP1Mus musculus
W238LFPTAWMNVLP1Bos taurus


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