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TissGeneSummary for PKDREJ |
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Basic gene information | Gene symbol | PKDREJ |
Gene name | polycystin (PKD) family receptor for egg jelly | |
Synonyms | - | |
Cytomap | UCSC genome browser: 22q13.31 | |
Type of gene | protein-coding | |
RefGenes | NM_006071.1, | |
Description | PKD and REJ homologpolycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)polycystic kidney disease and receptor for egg jelly-related protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 604670 | |
HGNC : HGNC | ||
Ensembl : ENSG00000130943 | ||
HPRD : 05239 | ||
Vega : OTTHUMG00000150493 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PKDREJ | |
BioGPS: 10343 | ||
Pathway | NCI Pathway Interaction Database: PKDREJ | |
KEGG: PKDREJ | ||
REACTOME: PKDREJ | ||
Pathway Commons: PKDREJ | ||
Context | iHOP: PKDREJ | |
ligand binding site mutation search in PubMed: PKDREJ | ||
UCL Cancer Institute: PKDREJ | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of PKDREJ | ||
Description by TissGene annotations | Cancer gene |
* 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. |
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GO ID | GO term | PubMed ID |
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TissGeneExp for PKDREJ |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (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. |
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![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
BRCA | -1.433166149 | -0.262322289 | -1.17084386 | 4.90E-19 | 3.27E-18 |
THCA | -1.946906485 | -0.640374282 | -1.306532203 | 1.36E-15 | 1.91E-14 |
KICH | -2.115433061 | -0.325797061 | -1.789636 | 2.55E-09 | 1.48E-08 |
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TissGene-miRNA for PKDREJ |
![]() (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 type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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TissGeneMut for PKDREJ |
TissGeneSNV for PKDREJ |
![]() 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. |
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![]() (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) |
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- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.D2074N | SKCM | 3 |
p.E2115K | SKCM | 2 |
p.R1305Q | SKCM | 2 |
p.D702N | SKCM | 2 |
p.G1504E | SKCM | 2 |
p.D920N | SKCM | 2 |
p.W1114* | SKCM | 2 |
p.Y2068X | THCA | 1 |
p.I1444V | HNSC | 1 |
p.Q1548E | HNSC | 1 |
p.D1759Y | COAD | 1 |
p.A1961G | STAD | 1 |
p.W300C | PRAD | 1 |
p.D489N | HNSC | 1 |
p.M2193I | ESCA | 1 |
p.E1657K | HNSC | 1 |
p.D938Y | KIRP | 1 |
p.V1234M | SKCM | 1 |
p.Q1889K | LUAD | 1 |
p.R1695K | SKCM | 1 |
p.W1906* | KICH | 1 |
p.L1793F | LUSC | 1 |
p.T1156I | KIRC | 1 |
p.N900D | HNSC | 1 |
p.Q1796H | PAAD | 1 |
p.P1222S | LUAD | 1 |
p.L1727I | READ | 1 |
p.A1961S | BRCA | 1 |
p.L341F | STAD | 1 |
p.Y862H | ESCA | 1 |
p.E2216K | LUAD | 1 |
p.G1291R | STAD | 1 |
p.P171R | LIHC | 1 |
p.A254T | STAD | 1 |
p.T1338P | GBM | 1 |
p.R1142W | PAAD | 1 |
p.S977P | LIHC | 1 |
p.R799Q | SKCM | 1 |
p.D426N | ACC | 1 |
p.R1891W | STAD | 1 |
p.Q1330H | BLCA | 1 |
p.H1344Y | SKCM | 1 |
p.R475S | KICH | 1 |
p.A667T | SKCM | 1 |
p.L416M | LUSC | 1 |
p.E1693K | SKCM | 1 |
p.P1519S | SKCM | 1 |
p.H1523Q | SKCM | 1 |
p.P823S | SKCM | 1 |
p.A252V | HNSC | 1 |
p.L1623I | UCEC | 1 |
p.E1803K | SKCM | 1 |
p.H81R | THCA | 1 |
p.S1932L | COAD | 1 |
p.Q825K | ESCA | 1 |
p.D602N | SKCM | 1 |
p.P1506S | SKCM | 1 |
p.Y2068* | THCA | 1 |
p.L478S | LIHC | 1 |
p.V2162I | PRAD | 1 |
p.L655V | STAD | 1 |
p.L837I | UCEC | 1 |
p.A571P | HNSC | 1 |
p.D920N | COAD | 1 |
p.N1318K | SKCM | 1 |
p.T981M | COAD | 1 |
p.V2162D | SKCM | 1 |
p.T1716A | SKCM | 1 |
p.Q873* | LUSC | 1 |
p.G1855A | PRAD | 1 |
p.S925L | COAD | 1 |
p.D489N | SKCM | 1 |
p.A714V | SKCM | 1 |
p.R1085C | LUAD | 1 |
p.E804* | UCEC | 1 |
p.E1820D | STAD | 1 |
p.P1455L | LGG | 1 |
p.V216I | READ | 1 |
p.R1699K | HNSC | 1 |
p.F525C | UCEC | 1 |
p.F1974L | UCEC | 1 |
p.D1661N | HNSC | 1 |
p.D2074N | UCEC | 1 |
p.D2047H | UCS | 1 |
p.R1142W | THYM | 1 |
p.R1241C | PAAD | 1 |
p.G514R | SKCM | 1 |
p.S1785L | SKCM | 1 |
p.R797S | HNSC | 1 |
p.L356M | BLCA | 1 |
p.R253H | ESCA | 1 |
p.M1160I | STAD | 1 |
p.E922K | SKCM | 1 |
p.H1153Y | SKCM | 1 |
p.R1173G | LUAD | 1 |
p.G1216R | GBM | 1 |
p.T1010P | SKCM | 1 |
p.R2076C | STAD | 1 |
p.T1076I | PAAD | 1 |
p.S747I | SKCM | 1 |
p.D1349E | LUAD | 1 |
p.S1463P | ACC | 1 |
p.V1198M | STAD | 1 |
p.D1546N | HNSC | 1 |
p.D363N | COAD | 1 |
p.D343N | STAD | 1 |
p.I471V | COAD | 1 |
p.D1735N | LUAD | 1 |
p.R436W | BRCA | 1 |
p.E2115* | LGG | 1 |
p.T274M | SARC | 1 |
p.S715T | SKCM | 1 |
p.N1854H | KIRP | 1 |
p.R1297H | ESCA | 1 |
p.S836Y | PAAD | 1 |
p.S1904N | SKCM | 1 |
p.R1173W | COAD | 1 |
p.I1164T | STAD | 1 |
p.A962T | SKCM | 1 |
p.G2055S | SARC | 1 |
p.D2215Y | COAD | 1 |
p.R1672K | SKCM | 1 |
p.R2018K | SKCM | 1 |
p.S1433G | SKCM | 1 |
p.H2048D | HNSC | 1 |
p.W1114X | SKCM | 1 |
p.R2201G | STAD | 1 |
p.D343N | HNSC | 1 |
p.R2076H | UCEC | 1 |
p.Q1676* | KIRP | 1 |
p.V204I | STAD | 1 |
p.K1804N | STAD | 1 |
p.S813I | GBM | 1 |
p.P1169S | SKCM | 1 |
p.E1900X | ESCA | 1 |
p.A1722V | SKCM | 1 |
p.H1773Y | ACC | 1 |
p.L623F | SKCM | 1 |
p.R1679Q | SKCM | 1 |
p.R1762K | HNSC | 1 |
p.G514R | LGG | 1 |
p.G1603S | LUSC | 1 |
p.T888K | SKCM | 1 |
p.F1593V | UCEC | 1 |
p.H1874R | UCEC | 1 |
p.R390Q | STAD | 1 |
p.D1225E | STAD | 1 |
p.Q660H | UCEC | 1 |
p.N1385S | OV | 1 |
p.S2044Y | ESCA | 1 |
p.P1531L | LUSC | 1 |
p.Q1676X | KIRP | 1 |
p.D772N | SKCM | 1 |
p.S1932L | PAAD | 1 |
p.F1710L | COAD | 1 |
p.R432T | STAD | 1 |
p.A950V | COAD | 1 |
p.N1369K | COAD | 1 |
p.M2050I | SKCM | 1 |
p.F1975L | UCEC | 1 |
p.V1584I | SKCM | 1 |
p.L1402V | BRCA | 1 |
p.I1097V | PAAD | 1 |
p.R436L | LUAD | 1 |
p.R2198H | KIRC | 1 |
p.G1122S | BLCA | 1 |
p.V1335D | UCEC | 1 |
p.V327L | SKCM | 1 |
p.V1263E | STAD | 1 |
p.S297L | HNSC | 1 |
p.D1605H | HNSC | 1 |
p.L737H | STAD | 1 |
p.Y1487X | READ | 1 |
p.Q660R | LIHC | 1 |
p.P1506R | ESCA | 1 |
p.E1900* | ESCA | 1 |
p.S263F | HNSC | 1 |
p.T1638M | UCS | 1 |
p.L1508F | SKCM | 1 |
p.V12L | COAD | 1 |
p.Q2079H | BLCA | 1 |
p.V661A | COAD | 1 |
p.L1689I | SKCM | 1 |
p.S925L | STAD | 1 |
p.L1121I | UCEC | 1 |
p.S2044Y | UCEC | 1 |
p.L1534H | BLCA | 1 |
p.E1432K | HNSC | 1 |
p.H1323Y | LUSC | 1 |
p.V1198M | LIHC | 1 |
p.E1810K | SKCM | 1 |
p.S1557F | SKCM | 1 |
p.F831S | LIHC | 1 |
p.H1555R | STAD | 1 |
p.E464K | UCEC | 1 |
p.I2038L | SKCM | 1 |
p.S1471L | LUSC | 1 |
p.T856A | STAD | 1 |
p.G546E | SKCM | 1 |
p.D1458G | READ | 1 |
p.W1649R | BLCA | 1 |
p.D589N | SKCM | 1 |
p.P250Q | TGCT | 1 |
p.M1663K | KIRP | 1 |
p.E1783K | HNSC | 1 |
p.S244L | HNSC | 1 |
p.R436Q | COAD | 1 |
p.S2044F | UCEC | 1 |
p.A1515V | COAD | 1 |
p.D795N | SKCM | 1 |
p.M933V | LIHC | 1 |
p.L1058F | SKCM | 1 |
p.M1424I | HNSC | 1 |
p.P916S | SKCM | 1 |
p.V2162I | SARC | 1 |
p.R1664C | LUAD | 1 |
p.F490V | UCS | 1 |
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TissGeneCNV for PKDREJ |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for PKDREJ |
![]() (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
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TissGeneNet for PKDREJ |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for PKDREJ |
![]() (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. |
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![]() (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. |
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![]() (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. |
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![]() (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. |
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TissGeneClin for PKDREJ |
TissGeneDrug for PKDREJ |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for PKDREJ |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0022680 | Polycystic Kidney Diseases | 1 | BeFree |
umls:C0595921 | Intraocular pressure disorder | 1 | BeFree |