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| TissGeneSummary for KRT1 |
 Gene summary |
| Basic gene information | Gene symbol | KRT1 |
| Gene name | keratin 1 | |
| Synonyms | CK1|EHK|EHK1|EPPK|K1|KRT1A|NEPPK | |
| Cytomap | UCSC genome browser: 12q13.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006121.3, | |
| Description | 67 kDa cytokeratinCK-1cytokeratin 1cytokeratin-1epidermolytic hyperkeratosis 1hair alpha proteinkeratin, type II cytoskeletal 1type-II keratin Kb1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 139350 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000167768 | ||
| HPRD : 00763 | ||
| Vega : OTTHUMG00000169749 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KRT1 | |
| BioGPS: 3848 | ||
| Pathway | NCI Pathway Interaction Database: KRT1 | |
| KEGG: KRT1 | ||
| REACTOME: KRT1 | ||
| Pathway Commons: KRT1 | ||
| Context | iHOP: KRT1 | |
| ligand binding site mutation search in PubMed: KRT1 | ||
| UCL Cancer Institute: KRT1 | ||
| Assigned class in TissGDB* | A | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTExHPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of KRT1 | New facets of keratin K77: interspecies variations of expression and different intracellular location in embryonic and adult skin of humans and mice. Langbein L, Reichelt J, Eckhart L, Praetzel-Wunder S, Kittstein W, Gassler N, Schweizer J. Cell Tissue Res. 2013 Dec;354(3):793-812. doi: 10.1007/s00441-013-1716-5. Epub 2013 Sep 22. (pmid:24057875) 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 KRT1 |
| 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 |
| LUAD | -0.420028901 | 1.533227996 | -1.953256897 | 4.14E-09 | 1.97E-08 |
| COAD | -0.639053436 | 1.498504256 | -2.137557692 | 2.20E-06 | 1.14E-05 |
| LUSC | 3.292795508 | 2.21900139 | 1.073794118 | 0.0311 | 0.045302199 |
| STAD | 0.033928535 | 2.078772285 | -2.04484375 | 0.0119 | 0.039242082 |
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| TissGene-miRNA for KRT1 |
| 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 KRT1 |
| TissGeneSNV for KRT1 |
| 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.S557G | TGCT | 6 |
| p.G98C | KIRC | 4 |
| p.S557G | COAD | 4 |
| p.S557G | DLBC | 2 |
| p.R179* | SKCM | 2 |
| p.S394L | SKCM | 2 |
| p.R29C | COAD | 2 |
| p.E359K | SKCM | 2 |
| p.S557G | ACC | 2 |
| p.S557G | KIRP | 1 |
| p.T156S | SKCM | 1 |
| p.Q381R | STAD | 1 |
| p.R463S | KIRC | 1 |
| p.G138E | UCEC | 1 |
| p.Y539H | LIHC | 1 |
| p.N470H | LUAD | 1 |
| p.E213K | SKCM | 1 |
| p.R239Q | CESC | 1 |
| p.S604F | CESC | 1 |
| p.V632M | KIRC | 1 |
| p.G71S | LUAD | 1 |
| p.S349N | STAD | 1 |
| p.G16C | LIHC | 1 |
| p.E411K | SKCM | 1 |
| p.R392I | ESCA | 1 |
| p.R239Q | SKCM | 1 |
| p.R30S | LUAD | 1 |
| p.S599T | SKCM | 1 |
| p.K633R | COAD | 1 |
| p.G596S | READ | 1 |
| p.D348Y | LIHC | 1 |
| p.F129C | CESC | 1 |
| p.R239Q | BLCA | 1 |
| p.E172K | COAD | 1 |
| p.R179P | LGG | 1 |
| p.R179* | PAAD | 1 |
| p.G603S | BRCA | 1 |
| p.W212X | SKCM | 1 |
| p.G603D | ESCA | 1 |
| p.G550V | LUAD | 1 |
| p.F17L | ESCA | 1 |
| p.R29C | BRCA | 1 |
| p.R343C | BRCA | 1 |
| p.E496K | SKCM | 1 |
| p.A454S | DLBC | 1 |
| p.K441N | UCEC | 1 |
| p.T643P | STAD | 1 |
| p.R223K | CESC | 1 |
| p.G144C | LIHC | 1 |
| p.R38H | STAD | 1 |
| p.G59R | KICH | 1 |
| p.Q249* | SKCM | 1 |
| p.E281D | READ | 1 |
| p.D219Y | UCEC | 1 |
| p.E478G | CESC | 1 |
| p.G96C | KIRC | 1 |
| p.W212* | SKCM | 1 |
| p.G581R | LGG | 1 |
| p.S557G | CESC | 1 |
| p.G97C | KIRC | 1 |
| p.D360N | SKCM | 1 |
| p.N402I | SKCM | 1 |
| p.R392* | UCEC | 1 |
| p.R29C | LGG | 1 |
| p.E283K | SKCM | 1 |
| p.Q249X | SKCM | 1 |
| p.S221Y | GBM | 1 |
| p.S186L | LUAD | 1 |
| p.D248N | SKCM | 1 |
| p.G607R | LIHC | 1 |
| p.E271G | GBM | 1 |
| p.Y539N | LUAD | 1 |
| p.E202K | SKCM | 1 |
| p.I287N | UCEC | 1 |
| p.F231I | SKCM | 1 |
| p.R179X | PAAD | 1 |
| p.S599F | SKCM | 1 |
| p.Q203H | SARC | 1 |
| p.V642I | COAD | 1 |
| p.R267Q | STAD | 1 |
| p.R30K | SKCM | 1 |
| p.D243G | BLCA | 1 |
| p.R267W | BRCA | 1 |
| p.D457N | SKCM | 1 |
| p.S626T | LUAD | 1 |
| p.G89A | COAD | 1 |
| p.R3Q | COAD | 1 |
| p.G621E | ESCA | 1 |
| p.D248N | OV | 1 |
| p.G121D | SKCM | 1 |
| p.R483S | LUAD | 1 |
| p.Q329K | LUAD | 1 |
| p.A436V | BRCA | 1 |
| p.Q357R | STAD | 1 |
| p.S625T | KIRC | 1 |
| p.E271Q | CESC | 1 |
| p.V503A | PAAD | 1 |
| p.P229L | SKCM | 1 |
| p.G20C | LUSC | 1 |
| p.G14E | SKCM | 1 |
| p.Q217L | UCEC | 1 |
| p.G537S | SKCM | 1 |
| p.M296I | COAD | 1 |
| p.G495R | SKCM | 1 |
| p.N205K | ESCA | 1 |
| p.R392K | SKCM | 1 |
| p.M296I | HNSC | 1 |
| p.L252F | SKCM | 1 |
| p.E370K | PRAD | 1 |
| p.G605C | HNSC | 1 |
| p.D464N | UCEC | 1 |
| p.G514R | SKCM | 1 |
| p.R343H | UCEC | 1 |
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| TissGeneCNV for KRT1 |
| 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 KRT1 |
| 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 |
| Chimerdb3.0 | ChiTaRs | NA | BC028294 | UBE2R2-KRT1 | chr9:33917123 | chr12:53068520 | |
| Chimerdb3.0 | ChiTaRs | NA | AJ293393 | KRT1-TMPO | chr12:53068614 | chr12:98943554 |
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| TissGeneNet for KRT1 |
| 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) |
| KRT1, COPS6, CAND1, CUL5, APC, TFAP2A, UBC, CUL4B, CDH1, CUL3, EGFR, UCHL5, DSP, PRKCE, DCUN1D1, NEDD8, FANCA, CSTA, FANCC, MBL2, CALB2 (tumor) | KRT1, CAND1, CUL2, YWHAZ, CUL4B, CDH1, IVL, CUL3, PITX3, EGFR, UCHL5, LOR, DCUN1D1, CCNA2, CUL4A, FANCA, CSTA, ANTXR2, KRT5, MAPK11, PI3 (normal) |
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| COAD (tumor) | COAD (normal) |
| KRT1, COPS6, CAND1, CUL5, YWHAZ, MDM2, CUL4B, CDH1, CUL3, DSP, PRKCE, CCNA2, POU5F1, FANCA, KNG1, TJP1, CSTA, FANCC, ANTXR2, F12, CALB2 (tumor) | KRT1, COPS6, CAND1, APC, MDM2, CDH1, IVL, CUL3, PITX3, EGFR, PRKCE, LOR, CCNA2, CUL4A, CSTA, ANTXR2, KRT5, MAPK11, PI3, F12, CALB2 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| KRT1, CAND1, TFAP2A, YWHAZ, CDH1, IVL, YWHAQ, DSP, PRKCE, LOR, EVPL, NEDD8, CCNA2, FANCA, KNG1, CSTA, ANTXR2, KRT5, MBL2, PI3, F12 (tumor) | KRT1, TFAP2A, UBC, YWHAZ, MDM2, CDH1, IVL, YWHAQ, DSP, PRKCE, LOR, EVPL, CCNA2, POU5F1, FANCA, TJP1, CSTA, FANCC, KRT5, PI3, CALB2 (normal) |
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| KICH (tumor) | KICH (normal) |
| KRT1, COPS6, TFAP2A, UBC, CUL4B, CDH1, IVL, CUL3, PITX3, ALB, UCHL5, PRKCE, EVPL, DCUN1D1, KNG1, TJP1, CSTA, FANCC, MBL2, F12, CALB2 (tumor) | KRT1, COPS6, APC, UBC, MDM2, IVL, CUL3, YWHAQ, CUL1, ALB, EGFR, UCHL5, PRKCE, DCUN1D1, NEDD8, FANCA, TJP1, CSTA, ANTXR2, MBL2, CALB2 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| KRT1, CAND1, CUL5, TFAP2A, CDH1, CUL3, PITX3, ALB, EGFR, UCHL5, DSP, EVPL, DCUN1D1, CUL4A, FANCA, CSTA, ANTXR2, KRT5, MAPK11, F12, CALB2 (tumor) | KRT1, CUL2, APC, TFAP2A, UBC, YWHAZ, YWHAQ, CUL1, COPS5, TANK, PRKCE, DCUN1D1, CUL4A, POU5F1, TJP1, CSTA, FANCC, ANTXR2, KRT5, MBL2, MAPK11 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| KRT1, COPS6, APC, TFAP2A, CDH1, IVL, CUL3, COPS5, TANK, EVPL, DCUN1D1, CCNA2, CUL4A, POU5F1, KNG1, CSTA, ANTXR2, KRT5, PI3, F12, CALB2 (tumor) | KRT1, COPS6, APC, IVL, CUL1, COPS5, UCHL5, DSP, PRKCE, EVPL, DCUN1D1, CCNA2, POU5F1, TJP1, CSTA, ANTXR2, KRT5, MAPK11, PI3, F12, CALB2 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| KRT1, CAND1, CUL5, CUL2, APC, MDM2, CUL4B, IVL, YWHAQ, EGFR, UCHL5, LOR, EVPL, DCUN1D1, CUL4A, ANTXR2, KRT5, MAPK11, PI3, F12, CALB2 (tumor) | KRT1, CUL5, YWHAZ, CUL4B, IVL, COPS5, PITX3, UCHL5, DSP, LOR, EVPL, NEDD8, CCNA2, CUL4A, POU5F1, FANCA, CSTA, ANTXR2, KRT5, PI3, CALB2 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| KRT1, TFAP2A, UBC, YWHAZ, MDM2, IVL, CUL3, YWHAQ, TANK, UCHL5, DSP, LOR, EVPL, DCUN1D1, CUL4A, TJP1, CSTA, FANCC, MBL2, MAPK11, F12 (tumor) | KRT1, COPS6, CUL2, APC, YWHAZ, IVL, YWHAQ, COPS5, EGFR, UCHL5, DSP, PRKCE, LOR, CCNA2, FANCA, CSTA, FANCC, ANTXR2, KRT5, F12, CALB2 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| KRT1, CUL5, CUL2, UBC, YWHAZ, MDM2, CUL4B, CDH1, IVL, CUL1, COPS5, TANK, ALB, DCUN1D1, NEDD8, CUL4A, KNG1, CSTA, FANCC, ANTXR2, CALB2 (tumor) | KRT1, COPS6, APC, TFAP2A, YWHAZ, CUL4B, IVL, CUL3, COPS5, EGFR, UCHL5, DSP, LOR, EVPL, CCNA2, CUL4A, TJP1, CSTA, KRT5, PI3, CALB2 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| KRT1, APC, YWHAZ, MDM2, CUL4B, CDH1, IVL, CUL1, COPS5, TANK, PITX3, DSP, NEDD8, KNG1, TJP1, CSTA, FANCC, KRT5, MAPK11, PI3, CALB2 (tumor) | KRT1, CUL5, UBC, YWHAZ, IVL, YWHAQ, COPS5, PITX3, UCHL5, DSP, LOR, CCNA2, CUL4A, POU5F1, TJP1, CSTA, ANTXR2, KRT5, MAPK11, PI3, CALB2 (normal) |
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| STAD (tumor) | STAD (normal) |
| KRT1, CAND1, TFAP2A, UBC, YWHAZ, MDM2, CUL4B, IVL, CUL3, EGFR, UCHL5, DSP, LOR, EVPL, CCNA2, CSTA, ANTXR2, KRT5, PI3, F12, CALB2 (tumor) | KRT1, UBC, IVL, COPS5, PITX3, EGFR, UCHL5, DSP, PRKCE, LOR, EVPL, CCNA2, CUL4A, FANCA, KNG1, TJP1, CSTA, KRT5, MBL2, MAPK11, CALB2 (normal) |
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| THCA (tumor) | THCA (normal) |
| KRT1, CUL4B, CDH1, YWHAQ, PITX3, ALB, EGFR, DSP, LOR, EVPL, CCNA2, CUL4A, POU5F1, FANCA, TJP1, CSTA, ANTXR2, KRT5, MBL2, MAPK11, F12 (tumor) | KRT1, CUL5, CUL2, APC, TFAP2A, YWHAZ, IVL, PITX3, PRKCE, LOR, DCUN1D1, CCNA2, FANCA, CSTA, FANCC, ANTXR2, KRT5, MBL2, MAPK11, PI3, CALB2 (normal) |
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| TissGeneProg for KRT1 |
| 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 KRT1 |
| TissGeneDrug for KRT1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for KRT1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0079153 | Hyperkeratosis, Epidermolytic | 43 | BeFree,CLINVAR,CTD_human,LHGDN,MGD,ORPHANET,RGD,UNIPROT |
| umls:C0343110 | Epidermolytic palmoplantar keratoderma of Vorner | 26 | BeFree,ORPHANET |
| umls:C0022596 | Palmoplantar Keratosis | 12 | BeFree |
| umls:C0870082 | Hyperkeratosis | 7 | BeFree |
| umls:C1721006 | Keratoderma, Palmoplantar, Epidermolytic | 7 | BeFree,CLINVAR,CTD_human,ORPHANET |
| umls:C0022584 | Keratoderma, Palmoplantar, Diffuse | 3 | BeFree |
| umls:C0037286 | Skin Neoplasms | 3 | BeFree,CTD_human |
| umls:C0432306 | Ichthyosis Bullosa of Siemens | 3 | BeFree |
| umls:C0011606 | Exfoliative dermatitis | 2 | BeFree |
| umls:C0022579 | Keratoderma | 2 | BeFree |
| umls:C0037274 | Dermatologic disorders | 2 | BeFree |
| umls:C0037277 | Skin Diseases, Genetic | 2 | BeFree |
| umls:C0079298 | Epidermolysis Bullosa Simplex | 2 | BeFree |
| umls:C0263580 | Ichthyosis hystrix | 2 | BeFree |
| umls:C1519346 | Skin Carcinogenesis | 2 | BeFree |
| umls:C1833030 | PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC | 2 | BeFree,CLINVAR,CTD_human,UNIPROT |
| umls:C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| umls:C0030354 | Papilloma | 1 | BeFree |
| umls:C0086543 | Cataract | 1 | BeFree |
| umls:C0149678 | Epstein-Barr Virus Infections | 1 | BeFree |
| umls:C0265334 | Pachyonychia Congenita | 1 | BeFree |
| umls:C0278488 | Carcinoma breast stage IV | 1 | BeFree |
| umls:C0334082 | NEVUS, EPIDERMAL (disorder) | 1 | BeFree |
| umls:C0432316 | Epidermolysis bullosa simplex with mottled pigmentation | 1 | BeFree |
| umls:C0521707 | Bilateral cataracts (disorder) | 1 | BeFree |
| umls:C1838440 | ICHTHYOSIS EXFOLIATIVA | 1 | BeFree |
| umls:C1840296 | Ichthyosis hystrix, Curth Macklin type | 1 | BeFree,CTD_human,ORPHANET |
| umls:C1843463 | Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
| umls:C3665704 | Congenital reticular ichthyosiform erythroderma | 1 | BeFree,ORPHANET |
| umls:C0432307 | Ichthyosis hystrix of Curth-Macklin | 0 | ORPHANET |
| umls:C1862005 | Epidermolytic Hyperkeratosis, Late-Onset | 0 | CLINVAR |
| umls:C2931122 | Keratosis palmoplantaris striata 1 | 0 | CTD_human |
| umls:C2931123 | Keratosis palmoplantaris striata 3 | 0 | CTD_human |
| umls:C2931735 | Epidermolytic palmoplantar keratoderma Vorner type | 0 | ORPHANET |
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