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 FGFR4
Gene summary
Basic gene Info.Gene symbolFGFR4
Gene namefibroblast growth factor receptor 4
CytomapUCSC genome browser: 5q35.2
Type of geneprotein-coding
Descriptionhydroxyaryl-protein kinaseprotein-tyrosine kinasetyrosine kinase related to fibroblast growth factor receptortyrosylprotein kinase
Modification date20141207
dbXrefs MIM : 134935
Ensembl : ENSG00000160867
HPRD : 00625
Vega : OTTHUMG00000151523
ProteinUniProt: P22455
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FGFR4
BioGPS: 2264
PathwayNCI Pathway Interaction Database: FGFR4
Pathway Commons: FGFR4
ContextiHOP: FGFR4
ligand binding site mutation search in PubMed: FGFR4
UCL Cancer Institute: FGFR4
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 FGFR4.1. "Roidl A, Foo P, Wong W, Mann C, Bechtold S, Berger HJ, Streit S, Ruhe JE, Hart S, Ullrich A, Ho HK. The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells. Oncogene. 2010 Mar 11;29(10):1543-52. doi:10.1038/onc.2009.432. Epub 2009 Nov 30. PubMed PMID: 19946327. " 19946327

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0008284positive regulation of cell proliferation8663044
GO:0008543fibroblast growth factor receptor signaling pathway21653700
GO:0018108peptidyl-tyrosine phosphorylation18480409
GO:0046777protein autophosphorylation20798051

Ligand binding site mutations for FGFR4
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
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.

Protein structure related information for FGFR4
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
(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 FGFR4 from PDB

Differential gene expression and gene-gene network for FGFR4
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 FGFR4 and the right PPI network was created from samples without mutations in the LBS of FGFR4. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for FGFR4
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0033578Prostatic Neoplasms3Biomarker, GeneticVariation
umls:C0010606Carcinoma, Adenoid Cystic1Biomarker
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for FGFR4
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
ApprovedDB08901PonatinibSmall molecule
ApprovedDB09078LenvatinibSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FGFR4 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
0LIPONATINIB4tyjAA501 V550 R611
0LIPONATINIB4qrcAV481 A501 V550 R611

Conservation information for LBS of FGFR4
Multiple alignments for P22455 in multiple species
LBSAA sequence# speciesSpecies
A501QTSTVAVKMLK2Mus musculus, Rattus norvegicus
A501QASTVAVKMLK1Homo sapiens
A501HMATVAVKMLK1Danio rerio
A553VIVECAAKGNL2Homo sapiens, Mus musculus
A553VLVEYASKGSL1Danio rerio
A553VIVEYAAKGNL1Rattus norvegicus
A554IVECAAKGNLR2Homo sapiens, Mus musculus
A554LVEYASKGSLR1Danio rerio
A554IVEYAAKGNLR1Rattus norvegicus
A629NVMKIADFGLA2Homo sapiens, Danio rerio
A629DVMKIADFGLA2Mus musculus, Rattus norvegicus
C477PLGEGCFGQVV4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
C552YVIVECAAKGN2Homo sapiens, Mus musculus
C552YVLVEYASKGS1Danio rerio
C552YVIVEYAAKGN1Rattus norvegicus
C608LESRKCIHRDL3Homo sapiens, Mus musculus, Rattus norvegicus
C608LASKRCIHRDL1Danio rerio
D630VMKIADFGLAR4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
E475GKPLGEGCFGQ4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
E520ADLVSEMEVMK2Homo sapiens, Mus musculus
E520ADLISEMELMK1Danio rerio
E520ADLISEMEMMK1Rattus norvegicus
E551LYVIVECAAKG2Homo sapiens, Mus musculus
E551LYVLVEYASKG1Danio rerio
E551LYVIVEYAAKG1Rattus norvegicus
E560KGNLREFLRAR3Homo sapiens, Mus musculus, Rattus norvegicus
E560KGSLREYLRAR1Danio rerio
F478LGEGCFGQVVR4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
F631MKIADFGLARG4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
G474LGKPLGEGCFG4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
G476KPLGEGCFGQV4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
G556ECAAKGNLREF2Homo sapiens, Mus musculus
G556EYASKGSLREY1Danio rerio
G556EYAAKGNLREF1Rattus norvegicus
G632KIADFGLARGV4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
H610SRKCIHRDLAA3Homo sapiens, Mus musculus, Rattus norvegicus
H610SKRCIHRDLAA1Danio rerio
I527EVMKLIGRHKN2Homo sapiens, Mus musculus
I527ELMKVMDKHKN1Danio rerio
I527EMMKLIGRHKN1Rattus norvegicus
I533GRHKNIINLLG3Homo sapiens, Mus musculus, Rattus norvegicus
I533DKHKNIINLLG1Danio rerio
I534RHKNIINLLGV3Homo sapiens, Mus musculus, Rattus norvegicus
I534KHKNIINLLGV1Danio rerio
I609ESRKCIHRDLA3Homo sapiens, Mus musculus, Rattus norvegicus
I609ASKRCIHRDLA1Danio rerio
I628DNVMKIADFGL2Homo sapiens, Danio rerio
I628DDVMKIADFGL2Mus musculus, Rattus norvegicus
K503STVAVKMLKDN3Homo sapiens, Mus musculus, Rattus norvegicus
K503ATVAVKMLKDD1Danio rerio
L473VLGKPLGEGCF3Homo sapiens, Mus musculus, Rattus norvegicus
L473TLGKPLGEGCF1Danio rerio
L603RGMQYLESRKC3Homo sapiens, Mus musculus, Rattus norvegicus
L603RGMEYLASKRC1Danio rerio
L619AARNVLVTEDN2Homo sapiens, Danio rerio
L619AARNVLVTEDD2Mus musculus, Rattus norvegicus
L633IADFGLARGVH4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
M524SEMEVMKLIGR2Homo sapiens, Mus musculus
M524SEMELMKVMDK1Danio rerio
M524SEMEMMKLIGR1Rattus norvegicus
R611RKCIHRDLAAR3Homo sapiens, Mus musculus, Rattus norvegicus
R611KRCIHRDLAAR1Danio rerio
V481GCFGQVVRAEA4Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus
V502TSTVAVKMLKD2Mus musculus, Rattus norvegicus
V502ASTVAVKMLKD1Homo sapiens
V502MATVAVKMLKD1Danio rerio
V548EGPLYVIVECA2Homo sapiens, Mus musculus
V548DGPLYVLVEYA1Danio rerio
V548EGPLYVIVEYA1Rattus norvegicus
V550PLYVIVECAAK2Homo sapiens, Mus musculus
V550PLYVLVEYASK1Danio rerio
V550PLYVIVEYAAK1Rattus norvegicus

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