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 FGFR3
Gene summary
Basic gene Info.Gene symbolFGFR3
Gene namefibroblast growth factor receptor 3
SynonymsACH|CD333|CEK2|HSFGFR3EX|JTK4
CytomapUCSC genome browser: 4p16.3
Type of geneprotein-coding
RefGenesNM_000142.4,
NM_001163213.1,NM_022965.3,
DescriptionFGFR-3fibroblast growth factor receptor 3 variant 4hydroxyaryl-protein kinasetyrosine kinase JTK4
Modification date20141219
dbXrefs MIM : 134934
HGNC : HGNC
Ensembl : ENSG00000068078
HPRD : 00624
Vega : OTTHUMG00000121148
ProteinUniProt: P22607
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FGFR3
BioGPS: 2261
PathwayNCI Pathway Interaction Database: FGFR3
KEGG: FGFR3
REACTOME: FGFR3
Pathway Commons: FGFR3
ContextiHOP: FGFR3
ligand binding site mutation search in PubMed: FGFR3
UCL Cancer Institute: FGFR3
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for FGFR3.1. "Wilkie AO, Oldridge M, Tang Z, Maxson RE Jr. Craniosynostosis and related limb anomalies. Novartis Found Symp. 2001;232:122-33; discussion 133-43. Review. PubMed PMID: 11277076. " 11277076
2. "Lievens PM, Liboi E. The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum. J Biol Chem. 2003 May 9;278(19):17344-9. Epub 2003 Mar 6. PubMed PMID: 12624096. " 12624096
3. "Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE. Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr. Am J Med Genet A. 2011 Dec;155A(12):3050-3. doi:10.1002/ajmg.a.34199. Epub 2011 Oct 28. PubMed PMID: 22038757. " 22038757

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0008543fibroblast growth factor receptor signaling pathway8663044
GO:0018108peptidyl-tyrosine phosphorylation11294897
GO:0046777protein autophosphorylation11294897


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Ligand binding site mutations for FGFR3
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
R655N653SCOAD1
D635G637WKIRC1
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 FGFR3
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
D635G637W-0.5497826
R655N653S-0.12932543
(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 FGFR3 from PDB

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Differential gene expression and gene-gene network for FGFR3
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 FGFR3 and the right PPI network was created from samples without mutations in the LBS of FGFR3. 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 FGFR3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0001080Achondroplasia110Biomarker, GeneticVariation
umls:C0026764Multiple Myeloma68AlteredExpression, Biomarker, GeneticVariation
umls:C1868678Thanatophoric Dysplasia, Type I60Biomarker, GeneticVariation
umls:C0005684Malignant neoplasm of bladder57Biomarker, GeneticVariation
umls:C0039743Thanatophoric Dysplasia54Biomarker, GeneticVariation
umls:C0410529Hypochondroplasia53Biomarker, GeneticVariation
umls:C0005695Urinary Bladder Neoplasms34Biomarker, GeneticVariation
umls:C0007138Carcinoma, Transitional Cell19Biomarker, GeneticVariation
umls:C1864436Muenke Syndrome15Biomarker, GeneticVariation
umls:C0022603Keratosis, Seborrheic15Biomarker, GeneticVariation
umls:C1300257Thanatophoric dysplasia, type 210Biomarker, GeneticVariation
umls:C2677099Crouzon Syndrome With Acanthosis Nigricans10Biomarker, GeneticVariation
umls:C0302592Cervix carcinoma6Biomarker, GeneticVariation
umls:C0007873Uterine Cervical Neoplasms2Biomarker
umls:C0265269Lacrimoauriculodentodigital syndrome1Biomarker, GeneticVariation
umls:C0036631Seminoma1Biomarker, GeneticVariation
umls:C0008924Cleft Lip1Biomarker
umls:C0008925Cleft Palate1Biomarker
umls:C0175699Saethre-Chotzen Syndrome1GeneticVariation

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

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Pharmacological information for FGFR3
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
ApprovedDB00039PaliferminBiotech
InvestigationalDB05014XL999Small molecule
ApprovedDB06589PazopanibSmall molecule
ApprovedDB08901PonatinibSmall molecule
ApprovedDB09078LenvatinibSmall molecule
ApprovedDB09079NintedanibSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FGFR3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)4k33AD635
ACPADENOSINE 5'-[BETA,GAMMA-METHYLENE]TRIPHOSPHATE4k33AD635 R655


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Conservation information for LBS of FGFR3
Multiple alignments for P22607 in multiple species
LBSAA sequence# speciesSpecies
A506KPVTVAVKMLK1Homo sapiens
A506NEIAVAVKKLK1Caenorhabditis elegans
A506NNAIVAVKMVK1Drosophila melanogaster
A506KAITVAVKMLK1Gallus gallus
A558VLVEYAAKGNL1Homo sapiens
A558VVVELCKHGNL1Caenorhabditis elegans
A558VIVEYAPHGNL1Drosophila melanogaster
A558VLVEYASKGNL1Gallus gallus
D635VMKIADFGLAR2Homo sapiens, Gallus gallus
D635VLKISDFGLSR1Caenorhabditis elegans
D635VLKIADFGLAR1Drosophila melanogaster
E556LYVLVEYAAKG1Homo sapiens
E556LYVVVELCKHG1Caenorhabditis elegans
E556LYVIVEYAPHG1Drosophila melanogaster
E556LYVLVEYASKG1Gallus gallus
F483LGEGCFGQVVM2Homo sapiens, Gallus gallus
F483LGEGAFGEVWK1Caenorhabditis elegans
F483LGEGAFGRVVM1Drosophila melanogaster
G484GEGCFGQVVMA2Homo sapiens, Gallus gallus
G484GEGAFGEVWKA1Caenorhabditis elegans
G484GEGAFGRVVMA1Drosophila melanogaster
K508VTVAVKMLKDD1Homo sapiens
K508IAVAVKKLKMS1Caenorhabditis elegans
K508AIVAVKMVKEG1Drosophila melanogaster
K508ITVAVKMLKDD1Gallus gallus
L624AARNVLVTEDN2Homo sapiens, Gallus gallus
L624AARNVLVGDGH1Caenorhabditis elegans
L624AARNVLVSDDY1Drosophila melanogaster
N562YAAKGNLREFL1Homo sapiens
N562LCKHGNLRDFL1Caenorhabditis elegans
N562YAPHGNLKDFL1Drosophila melanogaster
N562YASKGNLREYL1Gallus gallus
N622DLAARNVLVTE2Homo sapiens, Gallus gallus
N622DLAARNVLVGD1Caenorhabditis elegans
N622DLAARNVLVSD1Drosophila melanogaster
R621RDLAARNVLVT2Homo sapiens, Gallus gallus
R621RDLAARNVLVG1Caenorhabditis elegans
R621RDLAARNVLVS1Drosophila melanogaster
R655KTTNGRLPVKW2Homo sapiens, Gallus gallus
R655KRGNGRLPIKW1Caenorhabditis elegans
R655KNTNGRLPIKW1Drosophila melanogaster
V486GCFGQVVMAEA2Homo sapiens, Gallus gallus
V486GAFGEVWKATY1Caenorhabditis elegans
V486GAFGRVVMAEV1Drosophila melanogaster
V555PLYVLVEYAAK1Homo sapiens
V555PLYVVVELCKH1Caenorhabditis elegans
V555PLYVIVEYAPH1Drosophila melanogaster
V555PLYVLVEYASK1Gallus gallus


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