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| TissGeneSummary for KCNJ1 |
 Gene summary |
| Basic gene information | Gene symbol | KCNJ1 |
| Gene name | potassium inwardly-rectifying channel, subfamily J, member 1 | |
| Synonyms | KIR1.1|ROMK|ROMK1 | |
| Cytomap | UCSC genome browser: 11q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000220.4, NM_153764.2,NM_153765.2,NM_153766.2,NM_153767.3, | |
| Description | ATP-regulated potassium channel ROM-KATP-sensitive inward rectifier potassium channel 1inward rectifier K(+) channel Kir1.1inwardly rectifying K+ channelpotassium channel, inwardly rectifying subfamily J member 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600359 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000151704 | ||
| HPRD : 08981 | ||
| Vega : OTTHUMG00000048247 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KCNJ1 | |
| BioGPS: 3758 | ||
| Pathway | NCI Pathway Interaction Database: KCNJ1 | |
| KEGG: KCNJ1 | ||
| REACTOME: KCNJ1 | ||
| Pathway Commons: KCNJ1 | ||
| Context | iHOP: KCNJ1 | |
| ligand binding site mutation search in PubMed: KCNJ1 | ||
| UCL Cancer Institute: KCNJ1 | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Kidney | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICH | |
| Reference showing the relevant tissue of KCNJ1 | Expression of the potassium channel ROMK in adult and fetal human kidney. Nüsing RM, Pantalone F, Gröne HJ, Seyberth HW, Wegmann M. Histochem Cell Biol. 2005 Jun;123(6):553-9. Epub 2005 May 14. (pmid:15895241) go to article | |
| Description by TissGene annotations | ||
| * 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. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for KCNJ1 |
| 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) |
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| 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) |
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| 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. |
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| 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) |
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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 |
| KIRP | 1.13067998 | 10.72095185 | -9.590271875 | 5.21E-24 | 5.92E-22 |
| KIRC | 1.635678591 | 10.62845776 | -8.992779167 | 3.37E-51 | 3.28E-49 |
| KICH | 2.66129748 | 10.70131348 | -8.040016 | 1.97E-13 | 2.63E-12 |
| THCA | 0.601451378 | 2.267137819 | -1.665686441 | 3.85E-06 | 1.34E-05 |
| PRAD | -1.604899828 | -0.565101751 | -1.039798077 | 0.000104 | 0.000434821 |
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| TissGene-miRNA for KCNJ1 |
| 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 type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for KCNJ1 |
| TissGeneSNV for KCNJ1 |
| 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. |
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| 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) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.N2S | HNSC | 2 |
| p.G353V | LUAD | 2 |
| p.S164C | LUAD | 1 |
| p.S381L | PAAD | 1 |
| p.V194A | LUAD | 1 |
| p.F341L | LUSC | 1 |
| p.M357T | DLBC | 1 |
| p.C308Y | UCEC | 1 |
| p.L287F | BLCA | 1 |
| p.A87S | UCEC | 1 |
| p.F94L | CESC | 1 |
| p.D254N | LUAD | 1 |
| p.R29W | READ | 1 |
| p.G316R | LUAD | 1 |
| p.D271N | HNSC | 1 |
| p.A263V | COAD | 1 |
| p.H99Q | LUAD | 1 |
| p.T313K | LUAD | 1 |
| p.C49Y | LUSC | 1 |
| p.G226E | SKCM | 1 |
| p.M350I | STAD | 1 |
| p.A283V | STAD | 1 |
| p.V149I | SKCM | 1 |
| p.S311F | SKCM | 1 |
| p.M369I | STAD | 1 |
| p.N215S | LIHC | 1 |
| p.V10I | LGG | 1 |
| p.F113Y | SKCM | 1 |
| p.V27I | LGG | 1 |
| p.D271N | SKCM | 1 |
| p.R12C | READ | 1 |
| p.A198T | OV | 1 |
| p.G220E | SKCM | 1 |
| p.D345N | SKCM | 1 |
| p.R18Q | READ | 1 |
| p.L267F | HNSC | 1 |
| p.V329L | HNSC | 1 |
| p.R305C | COAD | 1 |
| p.F154L | BLCA | 1 |
| p.V10I | LUAD | 1 |
| p.V310L | HNSC | 1 |
| p.M62T | COAD | 1 |
| p.R184Q | COAD | 1 |
| p.V271A | UCEC | 1 |
| p.P297S | SKCM | 1 |
| p.R78S | UCEC | 1 |
| p.A307S | SARC | 1 |
| p.R203L | ESCA | 1 |
| p.C358F | LUSC | 1 |
| p.S96F | LUAD | 1 |
| p.L286F | HNSC | 1 |
| p.G209E | SKCM | 1 |
| p.R292W | LGG | 1 |
| p.V166I | SKCM | 1 |
| p.R311Q | KICH | 1 |
| p.E52* | UCEC | 1 |
| p.P314S | SKCM | 1 |
| p.R39K | LUSC | 1 |
| p.G148R | SKCM | 1 |
| p.F173L | BLCA | 1 |
| p.P112L | SKCM | 1 |
| p.V213A | LUAD | 1 |
| p.D74H | HNSC | 1 |
| p.A307S | COAD | 1 |
| p.D55H | HNSC | 1 |
| p.S294F | SKCM | 1 |
| p.P297L | SKCM | 1 |
| p.S362L | PAAD | 1 |
| p.G237E | SKCM | 1 |
| p.W25X | SKCM | 1 |
| p.S303P | STAD | 1 |
| p.A326T | ESCA | 1 |
| p.T332K | LUAD | 1 |
| p.H335D | BLCA | 1 |
| p.R48W | LUAD | 1 |
| p.E318D | BRCA | 1 |
| p.C189Y | HNSC | 1 |
| p.P314L | SKCM | 1 |
| p.F21L | LUSC | 1 |
| p.L268F | BLCA | 1 |
| p.T11M | ESCA | 1 |
| p.F154V | KIRC | 1 |
| p.P95L | SKCM | 1 |
| p.A84S | BLCA | 1 |
| p.R292Q | KICH | 1 |
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| TissGeneCNV for KCNJ1 |
| 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) |
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| TissGeneFusions for KCNJ1 |
| Fusion genes including TissGene (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 KCNJ1 |
| 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) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| COAD (tumor) | COAD (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| KICH (tumor) | KICH (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| STAD (tumor) | STAD (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| THCA (tumor) | THCA (normal) |
| KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (tumor) | KCNJ1, UBC, CFTR, SLC9A3R1, SGK1, IL16, PRKCD, SLC9A3R2, GOLGA3, SH3RF1 (normal) |
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| TissGeneProg for KCNJ1 |
| 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. |
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| 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. |
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| 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. |
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| 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. |
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| TissGeneClin for KCNJ1 |
| TissGeneDrug for KCNJ1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| DB00217 | Bethanidine | Inhibitor | Small molecule | Approved |
| DB00222 | Glimepiride | Inhibitor | Small molecule | Approved |
| DB00350 | Minoxidil | Inducer | Small molecule | Approved |
| DB01124 | Tolbutamide | Inhibitor | Small molecule | Approved |
| DB01382 | Glycodiazine | Other/unknown | Small molecule | Approved |
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| TissGeneDisease for KCNJ1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0004775 | Bartter Disease | 21 | BeFree,CTD_human,LHGDN |
| umls:C0020538 | Hypertensive disease | 4 | BeFree,CTD_human,GAD |
| umls:C1855849 | Bartter syndrome, antenatal , type 2 | 4 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
| umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 3 | BeFree |
| umls:C0011847 | Diabetes | 2 | BeFree |
| umls:C0011849 | Diabetes Mellitus | 2 | BeFree |
| umls:C0021670 | insulinoma | 2 | BeFree |
| umls:C0027709 | Nephrocalcinosis | 2 | BeFree |
| umls:C0268450 | Gitelman Syndrome | 2 | BeFree |
| umls:C0001430 | Adenoma | 1 | BeFree |
| umls:C0020295 | Hydronephrosis | 1 | BeFree |
| umls:C0020503 | Hyperparathyroidism, Secondary | 1 | GAD |
| umls:C0020599 | Hypocalciuria | 1 | BeFree |
| umls:C0022661 | Kidney Failure, Chronic | 1 | BeFree |
| umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
| umls:C0027726 | Nephrotic Syndrome | 1 | RGD |
| umls:C0033805 | Pseudohypoaldosteronism | 1 | BeFree,LHGDN |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0268113 | Familial juvenile gout | 1 | BeFree |
| umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 1 | BeFree |
| umls:C0342276 | Maturity onset diabetes mellitus in young | 1 | BeFree |
| umls:C1516170 | Cancer Cell Growth | 1 | BeFree |
| umls:C1846343 | Bartter syndrome, type 3 | 1 | BeFree |
| umls:C1960636 | Dysglycemia | 1 | BeFree |
| umls:C3163620 | Hypotension Adverse Event | 1 | GAD |
| umls:C3279800 | KEPPEN-LUBINSKY SYNDROME | 1 | BeFree |
| umls:C3714756 | Intellectual Disability | 1 | BeFree |
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