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 RNF8
Gene summary
Basic gene Info.Gene symbolRNF8
Gene namering finger protein 8, E3 ubiquitin protein ligase
CytomapUCSC genome browser: 6p21.3
Type of geneprotein-coding
DescriptionC3HC4-type zinc finger proteinE3 ubiquitin-protein ligase RNF8UBC13/UEV-interacting ring finger proteinring finger protein (C3HC4 type) 8
Modification date20141215
dbXrefs MIM : 611685
Ensembl : ENSG00000112130
HPRD : 11521
Vega : OTTHUMG00000014620
ProteinUniProt: O76064
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RNF8
BioGPS: 9025
PathwayNCI Pathway Interaction Database: RNF8
Pathway Commons: RNF8
ContextiHOP: RNF8
ligand binding site mutation search in PubMed: RNF8
UCL Cancer Institute: RNF8
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006302double-strand break repair18001824
GO:0006511ubiquitin-dependent protein catabolic process22266820
GO:0006974cellular response to DNA damage stimulus20550933
GO:0010212response to ionizing radiation18001824
GO:0033522histone H2A ubiquitination18001824
GO:0045739positive regulation of DNA repair18001824
GO:0051865protein autoubiquitination22266820
GO:0070534protein K63-linked ubiquitination21911360
GO:0070535histone H2A K63-linked ubiquitination22980979
GO:0070936protein K48-linked ubiquitination21911360

Ligand binding site mutations for RNF8
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 RNF8
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 RNF8 from PDB

Differential gene expression and gene-gene network for RNF8
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 RNF8 and the right PPI network was created from samples without mutations in the LBS of RNF8. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for RNF8
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0004352Autistic Disorder1Biomarker

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

Pharmacological information for RNF8
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 RNF8 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (GLU,LEU,LYS,THR,GLU,ARG,TYR)2pieAS60 L82 N83

Conservation information for LBS of RNF8
Multiple alignments for O76064 in multiple species
LBSAA sequence# speciesSpecies
C403ENELQCIICSE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C403ESELQCSICSE1Danio rerio
C406LQCIICSEYFI3Homo sapiens, Mus musculus, Rattus norvegicus
C406LQCSICSELFI1Danio rerio
C406LQCIICSEYFV1Bos taurus
C418AVTLNCAHSFC5Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus
C423CAHSFCSYCIN2Homo sapiens, Bos taurus
C423CAHSFCQHCIS1Danio rerio
C423CAHSFCSFCIN1Mus musculus
C423CAHSFCSFCIS1Rattus norvegicus
C426SFCSYCINEWM2Homo sapiens, Bos taurus
C426SFCQHCISEWR1Danio rerio
C426SFCSFCINEWM1Mus musculus
C426SFCSFCISEWM1Rattus norvegicus
C437KRKVECPICRK3Mus musculus, Rattus norvegicus, Bos taurus
C437KRKIECPICRK1Homo sapiens
C437NRKDKCPMCWQ1Danio rerio
C440VECPICRKDIE2Mus musculus, Rattus norvegicus
C440IECPICRKDIK1Homo sapiens
C440DKCPMCWQNIT1Danio rerio
C440VECPICRKDIK1Bos taurus
C55LVSKICPLMIS2Homo sapiens, Bos taurus
C55LISKVCPLMIS2Mus musculus, Rattus norvegicus
C55ILSSSCPLMIS1Danio rerio
E429SYCINEWMKRK2Homo sapiens, Bos taurus
E429QHCISEWRNRK1Danio rerio
E429SFCINEWMKRK1Mus musculus
E429SFCISEWMKRK1Rattus norvegicus
H420TLNCAHSFCSY2Homo sapiens, Bos taurus
H420TLNCAHSFCSF2Mus musculus, Rattus norvegicus
H420TLNCAHSFCQH1Danio rerio
I405ELQCIICSEYF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I405ELQCSICSELF1Danio rerio
K432INEWMKRKVEC2Mus musculus, Bos taurus
K432INEWMKRKIEC1Homo sapiens
K432ISEWRNRKDKC1Danio rerio
K432ISEWMKRKVEC1Rattus norvegicus
K434EWMKRKVECPI3Mus musculus, Rattus norvegicus, Bos taurus
K434EWMKRKIECPI1Homo sapiens
K434EWRNRKDKCPM1Danio rerio
L57SKICPLMISRN2Homo sapiens, Bos taurus
L57SSSCPLMISRI1Danio rerio
L57SKVCPLMISRS1Mus musculus
L57SKVCPLMISRN1Rattus norvegicus
L82MDNKSLNGVWL3Homo sapiens, Mus musculus, Rattus norvegicus
L82TDNKSLNGVWV1Danio rerio
M58KICPLMISRNH2Homo sapiens, Bos taurus
M58SSCPLMISRIH1Danio rerio
M58KVCPLMISRSH1Mus musculus
M58KVCPLMISRNH1Rattus norvegicus
N83DNKSLNGVWLN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N83DNKSLNGVWVN1Danio rerio
R42EVTVGRGFGVT2Homo sapiens, Bos taurus
R42EVSVGRGLNVT1Danio rerio
R42EVTIGRGLSVT1Mus musculus
R42EVTIGRGFSVT1Rattus norvegicus
R433NEWMKRKVECP2Mus musculus, Bos taurus
R433NEWMKRKIECP1Homo sapiens
R433SEWRNRKDKCP1Danio rerio
R433SEWMKRKVECP1Rattus norvegicus
R61PLMISRNHCVL2Homo sapiens, Rattus norvegicus
R61PLMISRIHCVF1Danio rerio
R61PLMISRSHCVL1Mus musculus
S60CPLMISRNHCV2Homo sapiens, Rattus norvegicus
S60CPLMISRIHCV1Danio rerio
S60CPLMISRSHCV1Mus musculus
V110YIQLGVPLENK1Homo sapiens
V110SVRLGVPLDGN1Danio rerio
V110HIQLGVPLESR1Mus musculus
V110HIQLGVPLESK1Rattus norvegicus
V110HIQLGVPLENK1Bos taurus
W430YCINEWMKRKI1Homo sapiens
W430HCISEWRNRKD1Danio rerio
W430FCINEWMKRKV1Mus musculus
W430FCISEWMKRKV1Rattus norvegicus
W430YCINEWMKRKV1Bos taurus

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