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 RCHY1
Gene summary
Basic gene Info.Gene symbolRCHY1
Gene namering finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase
SynonymsARNIP|CHIMP|PIRH2|PRO1996|RNF199|ZCHY|ZNF363
CytomapUCSC genome browser: 4q21.1
Type of geneprotein-coding
RefGenesNM_001009922.2,
NM_001278536.1,NM_001278537.1,NM_001278538.1,NM_001278539.1,
NM_015436.3,NR_037913.1,NR_037914.1,NR_103723.1,
NR_103724.1,NR_103725.1,NM_001008925.2,
DescriptionCH-rich interacting match with PLAG1E3 ubiquitin-protein ligase Pirh2RING finger and CHY zinc finger domain-containing protein 1RING finger protein 199androgen-receptor N-terminal-interacting proteinp53-induced protein with a RING-H2 domainzinc fing
Modification date20141207
dbXrefs MIM : 607680
HGNC : HGNC
Ensembl : ENSG00000163743
HPRD : 07607
Vega : OTTHUMG00000130105
ProteinUniProt: Q96PM5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RCHY1
BioGPS: 25898
PathwayNCI Pathway Interaction Database: RCHY1
KEGG: RCHY1
REACTOME: RCHY1
Pathway Commons: RCHY1
ContextiHOP: RCHY1
ligand binding site mutation search in PubMed: RCHY1
UCL Cancer Institute: RCHY1
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:0016567protein ubiquitination19043414
GO:0031398positive regulation of protein ubiquitination19483087
GO:0032436positive regulation of proteasomal ubiquitin-dependent protein catabolic process19483087
GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process19483087
GO:0051865protein autoubiquitination19483087


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Ligand binding site mutations for RCHY1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
C222L221ICOAD1
C222L221VHNSC1
C145P146TPRAD1
C186C186YSTAD1
C183R182KUCEC1
C90I89MUCEC1
T80T80AUCEC1
C65K67TUCEC1
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 RCHY1
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
C222L221V-1.8840014
C222L221I-1.804132
C145P146T-1.3645516
C186C186Y-1.2930538
T80T80A-0.85427874
C65K67T-0.85253192
C90I89M-0.82352972
C183R182K-0.45406386
(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 RCHY1 from PDB

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Differential gene expression and gene-gene network for RCHY1
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 RCHY1 and the right PPI network was created from samples without mutations in the LBS of RCHY1. 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 RCHY1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for RCHY1
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 RCHY1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)2k2cAC65 T80
ZNZINC(2+)2k2cAC90


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Conservation information for LBS of RCHY1
Multiple alignments for Q96PM5 in multiple species
LBSAA sequence# speciesSpecies


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