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 PHIP
Gene summary
Basic gene Info.Gene symbolPHIP
Gene namepleckstrin homology domain interacting protein
SynonymsBRWD2|DCAF14|WDR11|ndrp
CytomapUCSC genome browser: 6q14
Type of geneprotein-coding
RefGenesNM_017934.5,
DescriptionDDB1 and CUL4 associated factor 14IRS-1 PH domain-binding proteinPH-interacting proteinWD repeat-containing protein 11
Modification date20141207
dbXrefs MIM : 612870
HGNC : HGNC
Ensembl : ENSG00000146247
HPRD : 10152
Vega : OTTHUMG00000015071
ProteinUniProt: Q8WWQ0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PHIP
BioGPS: 55023
PathwayNCI Pathway Interaction Database: PHIP
KEGG: PHIP
REACTOME: PHIP
Pathway Commons: PHIP
ContextiHOP: PHIP
ligand binding site mutation search in PubMed: PHIP
UCL Cancer Institute: PHIP
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:0045944positive regulation of transcription from RNA polymerase II promoter17636024
GO:2001237negative regulation of extrinsic apoptotic signaling pathway17636024


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Ligand binding site mutations for PHIP
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
P1340P1340SUCEC1
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 PHIP
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
P1340P1340S-1.2147849
(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 PHIP from PDB

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Differential gene expression and gene-gene network for PHIP
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 PHIP and the right PPI network was created from samples without mutations in the LBS of PHIP. 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 PHIP
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1527336Sjogren's Syndrome1Biomarker

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

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Pharmacological information for PHIP
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 PHIP go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MB3N-METHYLPYRROLIDIN-2-ONE3mb3AP1340


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Conservation information for LBS of PHIP
Multiple alignments for Q8WWQ0 in multiple species
LBSAA sequence# speciesSpecies


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