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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for PKLR
check button Gene summary
Basic gene informationGene symbolPKLR
Gene namepyruvate kinase, liver and RBC
SynonymsPK1|PKL|PKR|PKRL|RPK
CytomapUCSC genome browser: 1q21
Type of geneprotein-coding
RefGenesNM_000298.5,
NM_181871.3,
DescriptionR-type/L-type pyruvate kinasepyruvate kinase 1pyruvate kinase PKLRpyruvate kinase isozyme R/Lpyruvate kinase isozymes L/Rpyruvate kinase isozymes R/Lpyruvate kinase type Lpyruvate kinase, liver and blood cellred cell/liver pyruvate kinase
Modification date20141207
dbXrefs MIM : 609712
HGNC : HGNC
Ensembl : ENSG00000143627
HPRD : 11841
Vega : OTTHUMG00000035875
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PKLR
BioGPS: 5313
PathwayNCI Pathway Interaction Database: PKLR
KEGG: PKLR
REACTOME: PKLR
Pathway Commons: PKLR
ContextiHOP: PKLR
ligand binding site mutation search in PubMed: PKLR
UCL Cancer Institute: PKLR
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,GTEx
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx)KidneyLiver
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA)KIRC,KIRP,KICHLIHC
Reference showing the relevant tissue of PKLR
Description by TissGene annotationsTissgsKTS
CNV lost TissGeneKTS
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID


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TissGeneExp for PKLR

check button Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
gene exp


check button Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01)
gene isoform exp


check button Gene expressions across normal tissues of GTEx data
(GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct)
- Here, we shows the matched tissue types only among our 28 cancer types.
normal gene exp


check button Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1))
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
KICH-3.3032526293.461923371-6.7651769.53E-129.17E-11
KIRP2.1782414965.402194621-3.2239531254.20E-050.000156419


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TissGene-miRNA for PKLR

check button Significantly anti-correlated miRNAs of TissGene across 28 cancer types
(Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016)
(TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21)
(TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16)
(Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25))
Cancer typemiRNA idmiRNA accessionP-val.Coeff.# samples


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TissGeneMut for PKLR
TissGeneSNV for PKLR

check button nsSNV counts per each loci.
Different colors of circles represent different cancer types. Circle size denotes number of samples.
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)

* Click on the image to enlarge it in a new window.
SNV lollipop
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check button Somatic nucleotide variants of TissGene across 28 cancer types
(X-axis: cancer type and Y-axis: % of mutated samples)
The numbers in parentheses are numbers of samples with mutation (nsSNVs).
(TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.E318KSKCM2
p.E287KSKCM2
p.M81ISKCM1
p.D260NSKCM1
p.R328PLUAD1
p.R531CUCEC1
p.R479CKIRP1
p.S2LBLCA1
p.C467WBRCA1
p.E375KSKCM1
p.T164ICOAD1
p.L45MLUAD1
p.G263ESKCM1
p.D324NBLCA1
p.A24ELUAD1
p.A54VLUAD1
p.A197TBRCA1
p.S499FSKCM1
p.R510QLUSC1
p.S43TCESC1
p.A305ELUAD1
p.A428VSKCM1
p.R258QHNSC1
p.R289LOV1
p.A400TSARC1
p.T384MLUSC1
p.E375QPRAD1
p.R518HLIHC1
p.L272PLIHC1
p.V297IUCEC1
p.D22HBLCA1
p.K348NSTAD1
p.R116XCOAD1
p.M346ISKCM1
p.D293NBLCA1
p.R486QLGG1
p.A459VSTAD1
p.V269IGBM1
p.L45QLUAD1
p.R13LLUAD1
p.R559QESCA1
p.A336TUCEC1
p.T125MUCEC1
p.G301DSKCM1
p.M377ISKCM1
p.R528QESCA1
p.A386ELUAD1
p.G305ESKCM1
p.D369HBLCA1
p.Y126CPAAD1
p.F191ICOAD1
p.A459TSTAD1
p.G244ALUAD1
p.G478DPAAD1
p.P160LSTAD1
p.L270PLUAD1
p.R216HSTAD1
p.G232ESKCM1
p.D528YCOAD1
p.R455QLGG1
p.T384MUCEC1
p.V202MSTAD1
p.A110VREAD1
p.L76RLIHC1
p.M112ISKCM1
p.S468FSKCM1
p.L301PLUAD1
p.F464LCESC1
p.R531HBRCA1
p.A469DBLCA1
p.R415*UCEC1
p.R289QHNSC1
p.G332DSKCM1
p.P383LSKCM1
p.R473HTHCA1
p.T193MSTAD1
p.Q353HLUSC1
p.V147GSKCM1
p.W494*SKCM1
p.L226ICOAD1
p.D324HLUAD1
p.G274ESKCM1
p.I60VSARC1
p.D293HLUAD1
p.E344KSKCM1
p.S2LHNSC1
p.G225EBLCA1
p.E19KLUAD1
p.L45PBLCA1
p.W327*UCEC1
p.G263RCOAD1
p.P383SSKCM1
p.P32LHNSC1
p.S2LUCEC1
p.E125KCESC1
p.P65SLUAD1
p.V52MLGG1
p.D229NSKCM1
p.R455QPRAD1


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TissGeneCNV for PKLR

check button Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples)
(TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16)
CNV


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TissGeneFusions for PKLR

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP


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TissGeneNet for PKLR

check button Co-expressed gene networks based on protein-protein interaction data (CePIN)
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(PINA2 ppi data)
BRCA (tumor)BRCA (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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COAD (tumor)COAD (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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HNSC (tumor)HNSC (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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KICH (tumor)KICH (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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KIRC (tumor)KIRC (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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KIRP (tumor)KIRP (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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LIHC (tumor)LIHC (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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LUAD (tumor)LUAD (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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LUSC (tumor)LUSC (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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PRAD (tumor)PRAD (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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STAD (tumor)STAD (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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THCA (tumor)THCA (normal)
PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (tumor)PKLR, PAK1, KIAA0101, MYOC, PXN, PSME1, SUMO4, CLEC4G, ARHGEF6, KIF23, OTUD5, USPL1, USP3 (normal)
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TissGeneProg for PKLR

check button Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image to enlarge it in a new window.
survival 1

check button Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 2

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 3

check button Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types
(TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16)
(TCGA clinicalMatrix, phenotype data, version 2016-04-27)

* Click on the image enlarge it in a new window.
survival 4

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TissGeneClin for PKLR
TissGeneDrug for PKLR

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for PKLR

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0340968Deficiency of pyruvate kinase25BeFree,CTD_human,MGD,ORPHANET,UNIPROT
umls:C0019196Hepatitis C16BeFree
umls:C2239176Liver carcinoma7BeFree
umls:C0019693HIV Infections6BeFree
umls:C0042769Virus Diseases6BeFree
umls:C0596263Carcinogenesis6BeFree
umls:C0002878Anemia, Hemolytic5BeFree,LHGDN
umls:C0011860Diabetes Mellitus, Non-Insulin-Dependent4BeFree,GAD
umls:C0002395Alzheimer's Disease3BeFree
umls:C0002871Anemia3BeFree,LHGDN
umls:C0006142Malignant neoplasm of breast3BeFree
umls:C0011849Diabetes Mellitus3BeFree,GAD
umls:C0019348Herpes Simplex Infections3BeFree
umls:C0024530Malaria3BeFree
umls:C0524910Hepatitis C, Chronic3BeFree
umls:C0678222Breast Carcinoma3BeFree
umls:C0007137Squamous cell carcinoma2BeFree
umls:C0011847Diabetes2BeFree
umls:C0011853Diabetes Mellitus, Experimental2CTD_human,RGD
umls:C0017636Glioblastoma2BeFree
umls:C0023418leukemia2BeFree
umls:C0023449Acute lymphocytic leukemia2BeFree
umls:C0023467Leukemia, Myelocytic, Acute2BeFree
umls:C0025007Measles2BeFree
umls:C0025202melanoma2BeFree
umls:C0027819Neuroblastoma2BeFree
umls:C0235974Pancreatic carcinoma2BeFree
umls:C0346647Malignant neoplasm of pancreas2BeFree
umls:C0700095Central neuroblastoma2BeFree
umls:C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2BeFree
umls:C0002736Amyotrophic Lateral Sclerosis1BeFree
umls:C0002881Anemia, Hemolytic, Congenital1GAD
umls:C0007131Non-Small Cell Lung Carcinoma1BeFree
umls:C0011226Hepatitis D Infection1BeFree
umls:C0013421Dystonia1BeFree
umls:C0015625Fanconi Anemia1BeFree
umls:C0015672Fatigue1BeFree
umls:C0015674Chronic Fatigue Syndrome1BeFree
umls:C0019163Hepatitis B1BeFree
umls:C0020074HSAN Type IV1BeFree
umls:C0020179Huntington Disease1BeFree
umls:C0020456Hyperglycemia1RGD
umls:C0021400Influenza1BeFree
umls:C0022336Creutzfeldt-Jakob disease1BeFree
umls:C0022680Polycystic Kidney Diseases1GAD
umls:C0023434Chronic Lymphocytic Leukemia1BeFree
umls:C0023448Lymphoid leukemia1BeFree
umls:C0023903Liver neoplasms1BeFree
umls:C0024121Lung Neoplasms1BeFree
umls:C0024131Lupus Vulgaris1BeFree
umls:C0024138Lupus Erythematosus, Discoid1BeFree
umls:C0024141Lupus Erythematosus, Systemic1BeFree
umls:C0024299Lymphoma1BeFree
umls:C0024314Lymphoproliferative Disorders1BeFree
umls:C0026769Multiple Sclerosis1BeFree
umls:C0027765nervous system disorder1BeFree
umls:C0029463Osteosarcoma1BeFree
umls:C0035126Reperfusion Injury1RGD
umls:C0035235Respiratory Syncytial Virus Infections1BeFree
umls:C0037354Smallpox1BeFree
umls:C0079772T-Cell Lymphoma1BeFree
umls:C0085669Acute leukemia1BeFree
umls:C0221016Red blood cell disorder1BeFree
umls:C0233794Memory impairment1BeFree
umls:C0242379Malignant neoplasm of lung1BeFree
umls:C0267446Acute gastroenteritis1BeFree
umls:C0333463Senile Plaques1BeFree
umls:C0333516Tumor necrosis1BeFree
umls:C0375023Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site1BeFree
umls:C0376358Malignant neoplasm of prostate1BeFree
umls:C0393593Dystonia Disorders1BeFree
umls:C0409974Lupus Erythematosus1BeFree
umls:C0520463Chronic active hepatitis1BeFree
umls:C0524851Neurodegenerative Disorders1BeFree
umls:C0585442Osteosarcoma of bone1BeFree
umls:C0598766Leukemogenesis1BeFree
umls:C0600139Prostate carcinoma1BeFree
umls:C0684249Carcinoma of lung1BeFree
umls:C1261473Sarcoma1BeFree
umls:C1292769Precursor B-cell lymphoblastic leukemia1BeFree
umls:C1387532Chronic hemolytic anemia1GAD
umls:C1512409Hepatocarcinogenesis1BeFree
umls:C1863224Adenosine Triphosphate, Elevated, Of Erythrocytes1CLINVAR,CTD_human,UNIPROT
umls:C2349595Fetal anemia1BeFree
umls:C2931859Acquired CJD1BeFree
umls:C3469521FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)1BeFree
umls:C3669246Mammary adenocarcinoma1BeFree
umls:C1970028MALARIA, SUSCEPTIBILITY TO (finding)0MGD