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 SHPRH
Gene summary
Basic gene Info.Gene symbolSHPRH
Gene nameSNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase
SynonymsbA545I5.2
CytomapUCSC genome browser: 6q24.3
Type of geneprotein-coding
RefGenesNM_001042683.2,
NM_173082.3,
Description2610103K11RikE3 ubiquitin-protein ligase SHPRHSNF2, histone-linker, PHD and RING finger domain-containing helicase
Modification date20141207
dbXrefs MIM : 608048
HGNC : HGNC
Ensembl : ENSG00000146414
HPRD : 10476
Vega : OTTHUMG00000015750
ProteinUniProt: Q149N8
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SHPRH
BioGPS: 257218
PathwayNCI Pathway Interaction Database: SHPRH
KEGG: SHPRH
REACTOME: SHPRH
Pathway Commons: SHPRH
ContextiHOP: SHPRH
ligand binding site mutation search in PubMed: SHPRH
UCL Cancer Institute: SHPRH
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:0000209protein polyubiquitination17108083


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Ligand binding site mutations for SHPRH
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
C1229C1229YCOAD1
C703F701LLUAD1
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 SHPRH
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
C703F701L-1.0655661
C1229C1229Y-0.22022696
(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 SHPRH from PDB

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Differential gene expression and gene-gene network for SHPRH
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 SHPRH and the right PPI network was created from samples without mutations in the LBS of SHPRH. 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 SHPRH
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 SHPRH
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 SHPRH go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)4qn1AC1229
ZNZINC(2+)2m85AC703


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Conservation information for LBS of SHPRH
Multiple alignments for Q149N8 in multiple species
LBSAA sequence# speciesSpecies


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