mutLBSgeneDB

mutLBSgeneDB
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 RNF168
Gene summary
Basic gene Info.Gene symbolRNF168
Gene namering finger protein 168, E3 ubiquitin protein ligase
SynonymshRNF168
CytomapUCSC genome browser: 3q29
Type of geneprotein-coding
RefGenesNM_152617.3,
DescriptionE3 ubiquitin-protein ligase RNF168
Modification date20141207
dbXrefs MIM : 612688
HGNC : HGNC
Ensembl : ENSG00000163961
HPRD : 08190
Vega : OTTHUMG00000155582
ProteinUniProt: Q8IYW5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RNF168
BioGPS: 165918
PathwayNCI Pathway Interaction Database: RNF168
KEGG: RNF168
REACTOME: RNF168
Pathway Commons: RNF168
ContextiHOP: RNF168
ligand binding site mutation search in PubMed: RNF168
UCL Cancer Institute: RNF168
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:0006302double-strand break repair19203578
GO:0006511ubiquitin-dependent protein catabolic process22373579
GO:0006974cellular response to DNA damage stimulus19500350
GO:0010212response to ionizing radiation19203578
GO:0016567protein ubiquitination22373579
GO:0035518histone H2A monoubiquitination22980979
GO:0036351histone H2A-K13 ubiquitination22980979
GO:0036352histone H2A-K15 ubiquitination22980979
GO:0045739positive regulation of DNA repair19203578
GO:0070534protein K63-linked ubiquitination22266820
GO:0070535histone H2A K63-linked ubiquitination19203578


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Ligand binding site mutations for RNF168

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C16G17RCOAD1
C39P38QLUAD1
C36K37TSTAD1
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 RNF168
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
C36K37T-1.1898124
C39P38Q-0.96118055
C16G17R-0.51861411
(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 RNF168 from PDB

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Differential gene expression and gene-gene network for RNF168
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 RNF168 and the right PPI network was created from samples without mutations in the LBS of RNF168. 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 RNF168
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C2677792Riddle Syndrome3Biomarker, GeneticVariation

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

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Pharmacological information for RNF168
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 RNF168 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3l11AC16 C36 C39
ZNZINC(2+)4gb0AC16 C36 C39


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Conservation information for LBS of RNF168
Multiple alignments for Q8IYW5 in multiple species
LBSAA sequence# speciesSpecies
C16LAECQCGICME2Mus musculus, Rattus norvegicus
C16LSECQCGICME1Homo sapiens
C16WSECICPICQE1Xenopus tropicalis
C16LLECQCQICVE1Bos taurus
C19CQCGICMEILV2Homo sapiens, Rattus norvegicus
C19CICPICQEILL1Xenopus tropicalis
C19CQCGICMEILL1Mus musculus
C19CQCQICVEILF1Bos taurus
C31PVTLPCNHTLC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C31PVTLPCKHTLC1Xenopus tropicalis
C36CNHTLCNPCFQ2Mus musculus, Rattus norvegicus
C36CNHTLCKPCFQ1Homo sapiens
C36CKHTLCNPCFQ1Xenopus tropicalis
C36CNHTLCKPCFE1Bos taurus
C39TLCNPCFQSTV2Mus musculus, Rattus norvegicus
C39TLCKPCFQSTV1Homo sapiens
C39TLCNPCFQMTV1Xenopus tropicalis
C39TLCKPCFESTV1Bos taurus
C51KASLCCPFCRR2Homo sapiens, Bos taurus
C51KANLCCPFCRR2Mus musculus, Rattus norvegicus
C51KASLCCPFCRK1Xenopus tropicalis
C54LCCPFCRRRVS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
C54LCCPFCRKRVS1Xenopus tropicalis
H33TLPCNHTLCKP2Homo sapiens, Bos taurus
H33TLPCNHTLCNP2Mus musculus, Rattus norvegicus
H33TLPCKHTLCNP1Xenopus tropicalis


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