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 CHFR
Gene summary
Basic gene Info.Gene symbolCHFR
Gene namecheckpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
CytomapUCSC genome browser: 12q24.33
Type of geneprotein-coding
DescriptionE3 ubiquitin-protein ligase CHFRRING finger protein 196
Modification date20141207
dbXrefs MIM : 605209
Ensembl : ENSG00000072609
Vega : OTTHUMG00000167930
ProteinUniProt: Q96EP1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CHFR
BioGPS: 55743
PathwayNCI Pathway Interaction Database: CHFR
Pathway Commons: CHFR
ContextiHOP: CHFR
ligand binding site mutation search in PubMed: CHFR
UCL Cancer Institute: CHFR
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000209protein polyubiquitination19182791
GO:0019941modification-dependent protein catabolic process19182791

Ligand binding site mutations for CHFR
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 CHFR
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 CHFR from PDB

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


Phenotype information for CHFR
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0038356Stomach Neoplasms3Biomarker, PostTranslationalModification
umls:C0007131Carcinoma, Non-Small-Cell Lung3Biomarker
umls:C0014170Endometrial Neoplasms1Biomarker

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

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

Conservation information for LBS of CHFR
Multiple alignments for Q96EP1 in multiple species
LBSAA sequence# speciesSpecies
C428QPYVVCRQCPE1Homo sapiens
C428QPYMMCRQCPG1Danio rerio
C428QPYTVCRQCPG1Xenopus tropicalis
C428QPYIVCRQCPE1Mus musculus
C431VVCRQCPEYRR1Homo sapiens
C431MMCRQCPGYRK1Danio rerio
C431TVCRQCPGYVR1Xenopus tropicalis
C431IVCRQCPEYRR1Mus musculus
C476Q-DYVCPLQGS1Homo sapiens
C476PQEFRCPPQAS1Danio rerio
C476Q-EYVCPSHGS1Xenopus tropicalis
C476P-DYMCPLQGS1Mus musculus
C485GSHALCTCCFQ1Homo sapiens
C485ASHLICTCCLQ1Danio rerio
C485GSHVICTCCFQ1Xenopus tropicalis
C485GSHAICTCCFQ1Mus musculus
C488ALCTCCFQPMP1Homo sapiens
C488LICTCCLQPMP1Danio rerio
C488VICTCCFQPMP1Xenopus tropicalis
C488AICTCCFQPMP1Mus musculus
C518CLQPFCHLYWG2Homo sapiens, Mus musculus
C518CQKPFCHVYWG1Danio rerio
C518CLEPFCHMYWG1Xenopus tropicalis
C524HLYWGCTRTGC2Homo sapiens, Mus musculus
C524HVYWGCPRIGC1Danio rerio
C524HMYWGCNRMGC1Xenopus tropicalis
C635TSRPDCYWGRN2Homo sapiens, Mus musculus
C635TNRPNCYWGRN1Danio rerio
C635TSRPNCYWGRN1Xenopus tropicalis
C641YWGRNCRTQVK4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
D634VTSRPDCYWGR2Homo sapiens, Mus musculus
D634VTNRPNCYWGR1Danio rerio
D634VTSRPNCYWGR1Xenopus tropicalis
F653HHAMKFNHICE3Homo sapiens, Xenopus tropicalis, Mus musculus
F653HHALKFNHICE1Danio rerio
G58NKLVSGDHCRI1Homo sapiens
G58NKLVSGNHCKI1Danio rerio
G58NKLVSGEHCKI1Xenopus tropicalis
G58NKLVSGDHCKL1Mus musculus
H482PLQGSHALCTC1Homo sapiens
H482PPQASHLICTC1Danio rerio
H482PSHGSHVICTC1Xenopus tropicalis
H482PLQGSHAICTC1Mus musculus
H649QVKAHHAMKFN3Homo sapiens, Xenopus tropicalis, Mus musculus
H649QVKAHHALKFN1Danio rerio
H655AMKFNHICEQT3Homo sapiens, Xenopus tropicalis, Mus musculus
H655ALKFNHICEQT1Danio rerio
K109YLVYRKNEPEH2Homo sapiens, Mus musculus
K109YFVYRKNEPEQ1Danio rerio
K109YVVYRKNEPEQ1Xenopus tropicalis
N53LSFPSNKLVSG2Homo sapiens, Mus musculus
N53LSFPANKLVSG1Danio rerio
N53LSFPGNKLVSG1Xenopus tropicalis
N640CYWGRNCRTQV4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
P633AVTSRPDCYWG1Homo sapiens
P633AVTNRPNCYWG1Danio rerio
P633TVTSRPNCYWG1Xenopus tropicalis
P633TVTSRPDCYWG1Mus musculus
R42EWTIGRRRGCD2Homo sapiens, Mus musculus
R42ECTVGRKKDCD1Danio rerio
R42EWTIGRKKACD1Xenopus tropicalis
R43WTIGRRRGCDL2Homo sapiens, Mus musculus
R43CTVGRKKDCDL1Danio rerio
R43WTIGRKKACDL1Xenopus tropicalis
R642WGRNCRTQVKA4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
R661ICEQTRFKN4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
S57SNKLVSGDHCR1Homo sapiens
S57ANKLVSGNHCK1Danio rerio
S57GNKLVSGEHCK1Xenopus tropicalis
S57SNKLVSGDHCK1Mus musculus
T643GRNCRTQVKAH4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
T79LEDTSTNGTVI2Xenopus tropicalis, Mus musculus
T79LEDTSTSGTVI1Homo sapiens
T79LEDMSTNGTVI1Danio rerio
W637RPDCYWGRNCR2Homo sapiens, Mus musculus
W637RPNCYWGRNCR2Danio rerio, Xenopus tropicalis
Y636SRPDCYWGRNC2Homo sapiens, Mus musculus
Y636NRPNCYWGRNC1Danio rerio
Y636SRPNCYWGRNC1Xenopus tropicalis

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