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 PIWIL1
Gene summary
Basic gene Info.Gene symbolPIWIL1
Gene namepiwi-like RNA-mediated gene silencing 1
CytomapUCSC genome browser: 12q24.33
Type of geneprotein-coding
Descriptionpiwi homologpiwi-like protein 1
Modification date20141207
dbXrefs MIM : 605571
Ensembl : ENSG00000125207
HPRD : 10409
Vega : OTTHUMG00000168382
ProteinUniProt: Q96J94
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PIWIL1
BioGPS: 9271
PathwayNCI Pathway Interaction Database: PIWIL1
Pathway Commons: PIWIL1
ContextiHOP: PIWIL1
ligand binding site mutation search in PubMed: PIWIL1
UCL Cancer Institute: PIWIL1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for PIWIL1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for PIWIL1
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
(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 PIWIL1 from PDB

Differential gene expression and gene-gene network for PIWIL1
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 PIWIL1 and the right PPI network was created from samples without mutations in the LBS of PIWIL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for PIWIL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0236969Substance-Related Disorders1Biomarker

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

Pharmacological information for PIWIL1
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 PIWIL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids3o3iXF332 A335 F342 Y346 Y350
NUCNucleic Acids3o6eXF332 A335 F342 Y346 Y350 A380
NUCNucleic Acids3o7vXF332 A335 F342 Y346 Y350 A380
NUCNucleic Acids2l5dAF342 Y346 Y350

Conservation information for LBS of PIWIL1
Multiple alignments for Q96J94 in multiple species
LBSAA sequence# speciesSpecies
A335STFKKADGSEV2Homo sapiens, Mus musculus
A335CKFKTNDG-EI1Drosophila melanogaster
A335NTFKKGDT-EI1Danio rerio
A335CTFRRADGSEI1Gallus gallus
A380TLPGPAMLIPE2Homo sapiens, Mus musculus
A380NDQA-IMIIPE1Drosophila melanogaster
A380PPPGPAMLVPE1Danio rerio
A380VTVGPVVLIPE1Gallus gallus
F332NPKSTFKKADG2Homo sapiens, Mus musculus
F332TPLCKFKTNDG1Drosophila melanogaster
F332TPNNTFKKGDT1Danio rerio
F332NPQCTFRRADG1Gallus gallus
F342GSEVSFLEYYR2Homo sapiens, Mus musculus
F342G-EISYVDYYK1Drosophila melanogaster
F342T-EISFKNYFK1Danio rerio
F342GSEISYIDYYK1Gallus gallus
K315TKYNNKTYRVD2Homo sapiens, Mus musculus
K315TDYNNKTYRID1Drosophila melanogaster
K315TKYNNKTYRID1Danio rerio
K315TKYNNRTYRVD1Gallus gallus
M381LPGPAMLIPEL2Homo sapiens, Mus musculus
M381DQA-IMIIPEL1Drosophila melanogaster
M381PPGPAMLVPEF1Danio rerio
M381TVGPVVLIPEL1Gallus gallus
N313VLTKYNNKTYR2Homo sapiens, Mus musculus
N313ILTDYNNKTYR1Drosophila melanogaster
N313ILTKYNNKTYR1Danio rerio
N313VLTKYNNRTYR1Gallus gallus
P379GTLPGPAMLIP2Homo sapiens, Mus musculus
P379GNDQA-IMIIP1Drosophila melanogaster
P379RPPPGPAMLVP1Danio rerio
P379NVTVGPVVLIP1Gallus gallus
Q349EYYRKQYNQEI2Homo sapiens, Mus musculus
Q349DYYKKRYNIII1Drosophila melanogaster
Q349NYFKSQYGLDI1Danio rerio
Q349DYYKRQYNQDI1Gallus gallus
Y312VVLTKYNNKTY1Homo sapiens
Y312VILTDYNNKTY1Drosophila melanogaster
Y312IILTKYNNKTY1Danio rerio
Y312IVLTKYNNRTY1Gallus gallus
Y312IVLTKYNNKTY1Mus musculus
Y317YNNKTYRVDDI2Homo sapiens, Mus musculus
Y317YNNKTYRIDDV1Drosophila melanogaster
Y317YNNKTYRIDDI1Danio rerio
Y317YNNRTYRVDDI1Gallus gallus
Y345VSFLEYYRKQY2Homo sapiens, Mus musculus
Y345ISYVDYYKKRY1Drosophila melanogaster
Y345ISFKNYFKSQY1Danio rerio
Y345ISYIDYYKRQY1Gallus gallus
Y346SFLEYYRKQYN2Homo sapiens, Mus musculus
Y346SYVDYYKKRYN1Drosophila melanogaster
Y346SFKNYFKSQYG1Danio rerio
Y346SYIDYYKRQYN1Gallus gallus
Y350YYRKQYNQEIT2Homo sapiens, Mus musculus
Y350YYKKRYNIIIR1Drosophila melanogaster
Y350YFKSQYGLDIT1Danio rerio
Y350YYKRQYNQDIS1Gallus gallus

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