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| TissGeneSummary for DSC1 |
 Gene summary |
| Basic gene information | Gene symbol | DSC1 |
| Gene name | desmocollin 1 | |
| Synonyms | CDHF1|DG2/DG3 | |
| Cytomap | UCSC genome browser: 18q12.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004948.3, NM_024421.2, | |
| Description | cadherin family member 1desmocollin-1desmosomal glycoprotein 2/3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 125643 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000134765 | ||
| HPRD : 00511 | ||
| Vega : OTTHUMG00000131982 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DSC1 | |
| BioGPS: 1823 | ||
| Pathway | NCI Pathway Interaction Database: DSC1 | |
| KEGG: DSC1 | ||
| REACTOME: DSC1 | ||
| Pathway Commons: DSC1 | ||
| Context | iHOP: DSC1 | |
| ligand binding site mutation search in PubMed: DSC1 | ||
| UCL Cancer Institute: DSC1 | ||
| 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) | Skin | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCM | |
| Reference showing the relevant tissue of DSC1 | ||
| 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 DSC1 |
| 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 |
| LUSC | 1.010831008 | -2.624502325 | 3.635333333 | 1.22E-15 | 8.30E-15 |
| BRCA | -0.572339838 | 1.856778583 | -2.429118421 | 3.56E-19 | 2.38E-18 |
| HNSC | 3.769607388 | 1.945372504 | 1.824234884 | 0.00203 | 0.006274038 |
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| TissGene-miRNA for DSC1 |
| 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 DSC1 |
| TissGeneSNV for DSC1 |
| 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.D235N | SKCM | 2 |
| p.S343L | SKCM | 2 |
| p.E514K | SKCM | 2 |
| p.P670L | SKCM | 2 |
| p.E870K | SKCM | 2 |
| p.E399K | SKCM | 2 |
| p.P308L | SKCM | 2 |
| p.G809R | SKCM | 2 |
| p.E206K | SKCM | 1 |
| p.E347K | SKCM | 1 |
| p.K624N | OV | 1 |
| p.R632H | BLCA | 1 |
| p.E623K | SKCM | 1 |
| p.P741H | LUSC | 1 |
| p.R813K | UCEC | 1 |
| p.E470K | SKCM | 1 |
| p.S93Y | ESCA | 1 |
| p.E323K | SKCM | 1 |
| p.R256Q | PCPG | 1 |
| p.D677N | SKCM | 1 |
| p.D346N | SKCM | 1 |
| p.P473L | SKCM | 1 |
| p.K721N | UCS | 1 |
| p.P351S | SKCM | 1 |
| p.D650E | SKCM | 1 |
| p.R634Q | BRCA | 1 |
| p.A141D | BLCA | 1 |
| p.K133R | LUAD | 1 |
| p.G262R | SKCM | 1 |
| p.P38S | SKCM | 1 |
| p.L35I | SKCM | 1 |
| p.P645S | PRAD | 1 |
| p.G556A | LUAD | 1 |
| p.I248L | UCEC | 1 |
| p.P119S | SKCM | 1 |
| p.C315Y | COAD | 1 |
| p.A729T | SKCM | 1 |
| p.C723S | GBM | 1 |
| p.P498S | LUAD | 1 |
| p.E470A | UCEC | 1 |
| p.A574T | STAD | 1 |
| p.V460I | COAD | 1 |
| p.G262E | SKCM | 1 |
| p.L269F | SKCM | 1 |
| p.R557Q | UCEC | 1 |
| p.P598L | SKCM | 1 |
| p.D326N | LUSC | 1 |
| p.F609L | UCEC | 1 |
| p.G856S | SKCM | 1 |
| p.P138T | THYM | 1 |
| p.R135* | UCEC | 1 |
| p.I734T | OV | 1 |
| p.D513E | SKCM | 1 |
| p.D98Y | COAD | 1 |
| p.Q509* | SKCM | 1 |
| p.V155I | UCEC | 1 |
| p.Q100E | HNSC | 1 |
| p.I340M | BLCA | 1 |
| p.S353F | SKCM | 1 |
| p.A696S | HNSC | 1 |
| p.V862L | LUAD | 1 |
| p.N732D | UCEC | 1 |
| p.G860D | UCEC | 1 |
| p.A554E | ESCA | 1 |
| p.N571K | OV | 1 |
| p.E371D | UCEC | 1 |
| p.E781K | SKCM | 1 |
| p.V419F | SKCM | 1 |
| p.S861L | SKCM | 1 |
| p.A574S | LUAD | 1 |
| p.S257F | BLCA | 1 |
| p.G690R | SKCM | 1 |
| p.S791F | LUAD | 1 |
| p.S849L | STAD | 1 |
| p.D650N | SKCM | 1 |
| p.E853K | SKCM | 1 |
| p.R135* | GBM | 1 |
| p.R131C | PAAD | 1 |
| p.D28N | SKCM | 1 |
| p.P473L | BLCA | 1 |
| p.E356K | GBM | 1 |
| p.C417R | LUSC | 1 |
| p.I688L | READ | 1 |
| p.T277S | UCEC | 1 |
| p.E536* | UCEC | 1 |
| p.H297R | COAD | 1 |
| p.P138S | SKCM | 1 |
| p.R36P | LGG | 1 |
| p.A554E | LUSC | 1 |
| p.R868W | SKCM | 1 |
| p.L877I | LUSC | 1 |
| p.P152S | SKCM | 1 |
| p.H290Y | SKCM | 1 |
| p.G794R | SKCM | 1 |
| p.V33I | SKCM | 1 |
| p.F249Y | SKCM | 1 |
| p.G740E | SKCM | 1 |
| p.Q509X | LIHC | 1 |
| p.G796R | LUAD | 1 |
| p.E439K | SKCM | 1 |
| p.E499K | SKCM | 1 |
| p.A239T | UCEC | 1 |
| p.K894Q | PAAD | 1 |
| p.D98N | SKCM | 1 |
| p.R36* | SKCM | 1 |
| p.K204* | LUAD | 1 |
| p.R868P | PAAD | 1 |
| p.P725S | SKCM | 1 |
| p.G505V | UCS | 1 |
| p.G604E | UCS | 1 |
| p.E588K | SKCM | 1 |
| p.G333S | UCEC | 1 |
| p.R826W | SKCM | 1 |
| p.E489Q | BLCA | 1 |
| p.D612N | SKCM | 1 |
| p.D289Y | LGG | 1 |
| p.L35R | SKCM | 1 |
| p.K32N | SKCM | 1 |
| p.V581A | UCEC | 1 |
| p.E233K | SKCM | 1 |
| p.E829K | SKCM | 1 |
| p.H840D | LUAD | 1 |
| p.G767D | READ | 1 |
| p.S537F | SKCM | 1 |
| p.E489K | LGG | 1 |
| p.G805R | SKCM | 1 |
| p.S147L | SKCM | 1 |
| p.P227S | SKCM | 1 |
| p.Q488H | SKCM | 1 |
| p.H566Y | SKCM | 1 |
| p.P386S | SKCM | 1 |
| p.E88K | SKCM | 1 |
| p.A551S | LUAD | 1 |
| p.Q479H | HNSC | 1 |
| p.P882H | LUSC | 1 |
| p.E188G | OV | 1 |
| p.S643F | OV | 1 |
| p.C667F | SKCM | 1 |
| p.S58A | BLCA | 1 |
| p.D845N | SKCM | 1 |
| p.E243K | SKCM | 1 |
| p.P298A | HNSC | 1 |
| p.S443F | SKCM | 1 |
| p.C848F | DLBC | 1 |
| p.N758S | SKCM | 1 |
| p.A888T | SKCM | 1 |
| p.L56I | LUAD | 1 |
| p.M675I | SKCM | 1 |
| p.E271K | UCEC | 1 |
| p.R868Q | UCEC | 1 |
| p.M697I | SKCM | 1 |
| p.R663* | LUAD | 1 |
| p.D515N | SKCM | 1 |
| p.Q608* | SKCM | 1 |
| p.E672Q | LUSC | 1 |
| p.E223V | LUAD | 1 |
| p.G397E | SKCM | 1 |
| p.G740R | SKCM | 1 |
| p.L20P | BRCA | 1 |
| p.H290Y | LUSC | 1 |
| p.R89K | SKCM | 1 |
| p.S831F | SKCM | 1 |
| p.T452A | LIHC | 1 |
| p.A446V | UCEC | 1 |
| p.P150S | SKCM | 1 |
| p.R718K | SKCM | 1 |
| p.E313K | SKCM | 1 |
| p.R632C | SKCM | 1 |
| p.P308S | PAAD | 1 |
| p.P272T | LUAD | 1 |
| p.T407K | LUAD | 1 |
| p.N521K | BLCA | 1 |
| p.L858V | CESC | 1 |
| p.S465I | BLCA | 1 |
| p.G75S | SKCM | 1 |
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| TissGeneCNV for DSC1 |
| 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 DSC1 |
| 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 DSC1 |
| 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) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| COAD (tumor) | COAD (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| KICH (tumor) | KICH (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| STAD (tumor) | STAD (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| THCA (tumor) | THCA (normal) |
| DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (tumor) | DSC1, UBC, KIAA0101, DSG2, PKP2, USP1, UCHL5, DSP, HNF1A, JUP, PRKAB1, GOSR1, C12orf44, DSG1, PKP1, PKP3 (normal) |
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| TissGeneProg for DSC1 |
| 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 DSC1 |
| TissGeneDrug for DSC1 |
| 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 DSC1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C1274167 | IgA pemphigus | 2 | BeFree |
| umls:C0001418 | Adenocarcinoma | 1 | BeFree |
| umls:C0009319 | Colitis | 1 | BeFree |
| umls:C0009404 | Colorectal Neoplasms | 1 | LHGDN |
| umls:C0019112 | Hemorrhoids | 1 | BeFree |
| umls:C0025202 | melanoma | 1 | CTD_human |
| umls:C0600336 | Subcorneal pustular dermatosis | 1 | BeFree |
| umls:C1319315 | Adenocarcinoma of large intestine | 1 | BeFree |
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