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) |
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 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. |
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) |
- 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. |
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) |
- 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) |
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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. |
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. |
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. |
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 |