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 FBL
Gene summary
Basic gene Info.Gene symbolFBL
Gene namefibrillarin
SynonymsFIB|FLRN|RNU3IP1
CytomapUCSC genome browser: 19q13.1
Type of geneprotein-coding
RefGenesNM_001436.3,
Description34 kDa nucleolar scleroderma antigen34-kD nucleolar scleroderma antigenRNA, U3 small nucleolar interacting protein 1histone-glutamine methyltransferaserRNA 2'-O-methyltransferase fibrillarin
Modification date20141207
dbXrefs MIM : 134795
HGNC : HGNC
Ensembl : ENSG00000105202
HPRD : 00617
Vega : OTTHUMG00000182581
ProteinUniProt: P22087
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FBL
BioGPS: 2091
PathwayNCI Pathway Interaction Database: FBL
KEGG: FBL
REACTOME: FBL
Pathway Commons: FBL
ContextiHOP: FBL
ligand binding site mutation search in PubMed: FBL
UCL Cancer Institute: FBL
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:0001649osteoblast differentiation16210410
GO:1990258histone glutamine methylation24352239


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Ligand binding site mutations for FBL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R218R218QBRCA1
G167G167RCOAD1
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 FBL
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
R218R218Q-1.4900481
G167G167R-0.30784315
(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 FBL from PDB

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Differential gene expression and gene-gene network for FBL
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 FBL and the right PPI network was created from samples without mutations in the LBS of FBL. 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 FBL
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004364Autoimmune Diseases4Biomarker
umls:C1458155Breast Neoplasms1Biomarker

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

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Pharmacological information for FBL
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 FBL go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FBL
Multiple alignments for P22087 in multiple species
LBSAA sequence# speciesSpecies
A169LYLGAASGTTV7Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Arabidopsis thaliana, Arabidopsis thaliana
A169LYLGAASGTSV3Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A169LYLGAANGTSV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A217PVIEDARHPHK3Homo sapiens, Mus musculus, Rattus norvegicus
A217PIIEDARHPAK2Arabidopsis thaliana, Arabidopsis thaliana
A217PIIEDARHPQK2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
A217PIVEDARKPMA1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
A217PIVEDARHPHK1Caenorhabditis elegans
A217PIIEDARHPHK1Drosophila melanogaster
A217PIVEDARHVQK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D216IPVIEDARHPH3Homo sapiens, Mus musculus, Rattus norvegicus
D216IPIIEDARHPA2Arabidopsis thaliana, Arabidopsis thaliana
D216IPIIEDARHPQ2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
D216IPIVEDARKPM1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
D216VPIVEDARHPH1Caenorhabditis elegans
D216IPIIEDARHPH1Drosophila melanogaster
D216IPIVEDARHVQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D236DVIFADVAQPD4Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Mus musculus, Rattus norvegicus
D236DVIFSDVAQPD3Caenorhabditis elegans, Arabidopsis thaliana, Arabidopsis thaliana
D236DTIFADVAQPD1Drosophila melanogaster
D236DVVFADVAQPD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D236DCVFADVAQPD1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D236DAVFADVAQPD1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E191LVYAVEFSHRS5Homo sapiens, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E191CVYAVEFSHRS2Arabidopsis thaliana, Arabidopsis thaliana
E191SVYAVEFSHRS1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E191IVYAVEFSHRS1Caenorhabditis elegans
E191VVYAVEFSHRP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E191LVYAVEFSHRP1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E215IIPVIEDARHP3Homo sapiens, Mus musculus, Rattus norvegicus
E215VIPIIEDARHP3Arabidopsis thaliana, Arabidopsis thaliana, Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
E215IIPIIEDARHP2Drosophila melanogaster, Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E215VIPIVEDARKP1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
E215VVPIVEDARHP1Caenorhabditis elegans
E215VIPIVEDARHV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F192VYAVEFSHRSG9Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Caenorhabditis elegans, Drosophila melanogaster, Mus musculus, Rattus norvegicus, Arabidopsis thaliana, Arabidopsis thaliana, Schizosaccharomyces pombe (s
F192VYAVEFSHRPG2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
G167KVLYLGAASGT9Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Drosophila melanogaster, Mus musculus, Rattus norvegicus, Arabidopsis thaliana, Arabidopsis thaliana, Saccharomyces cerevisiae (strain ATCC 204508 / S288c
G167KLLYLGAASGT1Caenorhabditis elegans
G167RVLYLGAANGT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q239FADVAQPDQAR4Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923
Q239FADVAQPDQTR3Homo sapiens, Mus musculus, Rattus norvegicus
Q239FSDVAQPDQAR3Caenorhabditis elegans, Arabidopsis thaliana, Arabidopsis thaliana
Q239FADVAQPDQGR1Drosophila melanogaster
R218VIEDARHPHKY3Homo sapiens, Mus musculus, Rattus norvegicus
R218IIEDARHPAKY2Arabidopsis thaliana, Arabidopsis thaliana
R218IIEDARHPQKY2Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)
R218IVEDARKPMAY1Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987)
R218IVEDARHPHKY1Caenorhabditis elegans
R218IIEDARHPHKY1Drosophila melanogaster
R218IVEDARHVQKY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V237VIFADVAQPDQ4Homo sapiens, Neurospora crassa (strain ATCC 24698 / 74-OR23-1A / CBS 708.71 / DSM 1257 / FGSC 987), Mus musculus, Rattus norvegicus
V237VIFSDVAQPDQ3Caenorhabditis elegans, Arabidopsis thaliana, Arabidopsis thaliana
V237TIFADVAQPDQ1Drosophila melanogaster
V237VVFADVAQPDQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V237CVFADVAQPDQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
V237AVFADVAQPDQ1Ashbya gossypii (strain ATCC 10895 / CBS 109.51 / FGSC 9923 / NRRL Y-1056)


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