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 PIH1D1
Gene summary
Basic gene Info.Gene symbolPIH1D1
Gene namePIH1 domain containing 1
SynonymsNOP17
CytomapUCSC genome browser: 19q13.33
Type of geneprotein-coding
RefGenesNM_017916.2,
DescriptionPIH1 domain-containing protein 1nucleolar protein 17 homolog
Modification date20141207
dbXrefs MIM : 611480
HGNC : HGNC
Ensembl : ENSG00000104872
HPRD : 07938
Vega : OTTHUMG00000183167
ProteinUniProt: Q9NWS0
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PIH1D1
BioGPS: 55011
PathwayNCI Pathway Interaction Database: PIH1D1
KEGG: PIH1D1
REACTOME: PIH1D1
Pathway Commons: PIH1D1
ContextiHOP: PIH1D1
ligand binding site mutation search in PubMed: PIH1D1
UCL Cancer Institute: PIH1D1
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


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Ligand binding site mutations for PIH1D1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
R168F170LLUAD1
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 PIH1D1
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
R168F170L-1.1444377
(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 PIH1D1 from PDB

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Differential gene expression and gene-gene network for PIH1D1
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 PIH1D1 and the right PPI network was created from samples without mutations in the LBS of PIH1D1. 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 PIH1D1
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 PIH1D1
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 PIH1D1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ALA,LEU,ASP,SER,ASP,ASP,GLU,PHE,VAL,PRO,TYR)4psiAR168
IIIPeptide ligand (LEU,ASP,SER,ASP,ASP,GLU,PHE,VAL,PRO,TYR)4psiBR168


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Conservation information for LBS of PIH1D1
Multiple alignments for Q9NWS0 in multiple species
LBSAA sequence# speciesSpecies
A112HAELDAKGQGC4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D111PHAELDAKGQG4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F66SEGKVFINICH3Homo sapiens, Mus musculus, Rattus norvegicus
F66AEGKVFINICH1Bos taurus
I17SEAEAIGADSA1Homo sapiens
I17SDTESMGEETV1Mus musculus
I17SDAESMGEETV1Rattus norvegicus
I17NDAETMGAETS1Bos taurus
K113AELDAKGQGCT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
K166EWRMLKYRSFL2Mus musculus, Rattus norvegicus
K166EWRMMKNRPFM1Homo sapiens
K166EWRILKNRPFL1Bos taurus
K57PGFCIKTNSSE2Homo sapiens, Rattus norvegicus
K57PGFCVKTNSSE1Mus musculus
K57PGFCIKTNSAE1Bos taurus
K64NSSEGKVFINI3Homo sapiens, Mus musculus, Rattus norvegicus
K64NSAEGKVFINI1Bos taurus
M165PEWRMLKYRSF2Mus musculus, Rattus norvegicus
M165PEWRMMKNRPF1Homo sapiens
M165PEWRILKNRPF1Bos taurus
N167WRMLKYRSFLG2Mus musculus, Rattus norvegicus
N167WRMMKNRPFMG1Homo sapiens
N167WRILKNRPFLG1Bos taurus
P52QIQPQPGFCIK2Homo sapiens, Bos taurus
P52QIQPKPGFCVK1Mus musculus
P52QIQPKPGFCIK1Rattus norvegicus
R163LNPEWRMLKYR2Mus musculus, Rattus norvegicus
R163LNPEWRMMKNR1Homo sapiens
R163LNPEWRILKNR1Bos taurus
R168RMLKYRSFLGS2Mus musculus, Rattus norvegicus
R168RMMKNRPFMGS1Homo sapiens
R168RILKNRPFLGS1Bos taurus


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