TissGeneSummary for DSG1 |
Gene summary |
Basic gene information | Gene symbol | DSG1 |
Gene name | desmoglein 1 | |
Synonyms | CDHF4|DG1|DSG|EPKHE|EPKHIA|PPKS1|SPPK1 | |
Cytomap | UCSC genome browser: 18q12.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001942.2, | |
Description | DGIcadherin family member 4desmoglein-1desmosomal glycoprotein 1pemphigus foliaceus antigen | |
Modification date | 20141222 | |
dbXrefs | MIM : 125670 | |
HGNC : HGNC | ||
Ensembl : ENSG00000134760 | ||
HPRD : 00515 | ||
Vega : OTTHUMG00000131983 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DSG1 | |
BioGPS: 1828 | ||
Pathway | NCI Pathway Interaction Database: DSG1 | |
KEGG: DSG1 | ||
REACTOME: DSG1 | ||
Pathway Commons: DSG1 | ||
Context | iHOP: DSG1 | |
ligand binding site mutation search in PubMed: DSG1 | ||
UCL Cancer Institute: DSG1 | ||
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) | SkinEye | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMUVM | |
Reference showing the relevant tissue of DSG1 | Toxin in bullous impetigo and staphylococcal scalded-skin syndrome targets desmoglein 1. Amagai M, Matsuyoshi N, Wang ZH, Andl C, Stanley JR. Nat Med. 2000 Nov;6(11):1275-7. (pmid:11062541) go to article | |
Description by TissGene annotations | Fused withOncogene |
* 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 | GO:0050821 | protein stabilization | 7983064 | GO:0050821 | protein stabilization | 7983064 |
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TissGeneExp for DSG1 |
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 |
LIHC | 4.15694169 | 6.32696769 | -2.170026 | 2.05E-05 | 8.09E-05 |
LUSC | 3.650371024 | -0.707642702 | 4.358013725 | 1.40E-13 | 7.13E-13 |
COAD | 0.719306921 | -1.216985387 | 1.936292308 | 4.95E-08 | 3.75E-07 |
BRCA | 0.83382541 | 4.503096462 | -3.669271053 | 1.82E-23 | 1.64E-22 |
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TissGene-miRNA for DSG1 |
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 DSG1 |
TissGeneSNV for DSG1 |
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.G315E | SKCM | 5 |
p.H595Y | SKCM | 3 |
p.S158L | SKCM | 3 |
p.E788K | SKCM | 2 |
p.R219* | SKCM | 2 |
p.E924K | SKCM | 2 |
p.P823S | SKCM | 2 |
p.D855N | SKCM | 2 |
p.R325I | READ | 2 |
p.S1018F | SKCM | 2 |
p.P602L | SKCM | 1 |
p.G426E | SKCM | 1 |
p.S400L | LUAD | 1 |
p.D538Y | UCEC | 1 |
p.P532T | LUAD | 1 |
p.M322I | SKCM | 1 |
p.A184T | DLBC | 1 |
p.M933I | SKCM | 1 |
p.D264N | SKCM | 1 |
p.R491K | SKCM | 1 |
p.E270K | SKCM | 1 |
p.P577S | HNSC | 1 |
p.N286K | SKCM | 1 |
p.P585L | LUAD | 1 |
p.D876N | SKCM | 1 |
p.G653R | BLCA | 1 |
p.R219X | SKCM | 1 |
p.I927N | ACC | 1 |
p.R200I | LUAD | 1 |
p.R117* | SKCM | 1 |
p.Q81H | DLBC | 1 |
p.E942K | SKCM | 1 |
p.I720V | UCEC | 1 |
p.H359Y | UCEC | 1 |
p.P786S | SKCM | 1 |
p.V1045M | HNSC | 1 |
p.N378S | LGG | 1 |
p.A236D | LUSC | 1 |
p.G819S | SKCM | 1 |
p.D2N | SKCM | 1 |
p.D136Y | COAD | 1 |
p.E942K | UCEC | 1 |
p.M933I | BLCA | 1 |
p.Q787* | KIRC | 1 |
p.D490N | UCEC | 1 |
p.P825L | SKCM | 1 |
p.V306A | STAD | 1 |
p.R86H | GBM | 1 |
p.G653R | KICH | 1 |
p.R128Q | SKCM | 1 |
p.A246T | UVM | 1 |
p.G396D | LGG | 1 |
p.G382S | SKCM | 1 |
p.R1036* | SKCM | 1 |
p.G659E | SKCM | 1 |
p.A78S | KIRC | 1 |
p.E953D | THYM | 1 |
p.V101I | SKCM | 1 |
p.G462E | SKCM | 1 |
p.Y721C | LIHC | 1 |
p.R1036Q | UCEC | 1 |
p.A57T | LUAD | 1 |
p.G533E | HNSC | 1 |
p.H359N | BLCA | 1 |
p.G231D | UCEC | 1 |
p.M681V | DLBC | 1 |
p.P729L | HNSC | 1 |
p.G89A | BLCA | 1 |
p.Q670E | CESC | 1 |
p.V560I | SKCM | 1 |
p.G987E | SKCM | 1 |
p.V586I | SKCM | 1 |
p.Y1047X | KIRP | 1 |
p.R242X | STAD | 1 |
p.Y339C | LUAD | 1 |
p.Y230H | LUAD | 1 |
p.A900E | UCEC | 1 |
p.V851E | ESCA | 1 |
p.M322I | COAD | 1 |
p.R291T | CESC | 1 |
p.R49H | UCEC | 1 |
p.S485N | SARC | 1 |
p.E600Q | BLCA | 1 |
p.A78V | THYM | 1 |
p.T806I | BLCA | 1 |
p.G329E | SKCM | 1 |
p.E62V | LUAD | 1 |
p.G752V | LUSC | 1 |
p.M933K | SKCM | 1 |
p.S418L | LUAD | 1 |
p.S844F | SKCM | 1 |
p.G1007V | LUAD | 1 |
p.N480H | UCEC | 1 |
p.A986D | LUAD | 1 |
p.E641K | STAD | 1 |
p.V374A | SKCM | 1 |
p.G592R | SKCM | 1 |
p.R887Q | SKCM | 1 |
p.E588K | SKCM | 1 |
p.S630L | CESC | 1 |
p.G711E | SKCM | 1 |
p.Y841F | COAD | 1 |
p.P203H | ESCA | 1 |
p.G231A | ESCA | 1 |
p.E790K | SKCM | 1 |
p.S170Y | COAD | 1 |
p.E741K | SKCM | 1 |
p.T846S | SKCM | 1 |
p.D261N | LGG | 1 |
p.S767L | SKCM | 1 |
p.S370T | LUAD | 1 |
p.R682K | SKCM | 1 |
p.E839K | SKCM | 1 |
p.D402N | BLCA | 1 |
p.T478K | LUAD | 1 |
p.P496A | LUAD | 1 |
p.T846I | SKCM | 1 |
p.G966C | PAAD | 1 |
p.G764E | SKCM | 1 |
p.M691I | SKCM | 1 |
p.D31Y | COAD | 1 |
p.E655Q | BLCA | 1 |
p.N488H | DLBC | 1 |
p.D402Y | ESCA | 1 |
p.G535E | SKCM | 1 |
p.D31Y | READ | 1 |
p.L1003V | ACC | 1 |
p.T968N | LUAD | 1 |
p.S938C | LUSC | 1 |
p.P815S | SKCM | 1 |
p.G1008E | SKCM | 1 |
p.E781X | THYM | 1 |
p.I290N | OV | 1 |
p.G989S | HNSC | 1 |
p.E942K | LGG | 1 |
p.Q279* | SKCM | 1 |
p.L567F | BLCA | 1 |
p.R438I | UCEC | 1 |
p.G932S | PRAD | 1 |
p.D572N | SKCM | 1 |
p.D468H | LUAD | 1 |
p.M883I | LUAD | 1 |
p.D628G | LUSC | 1 |
p.G985C | LGG | 1 |
p.H947Y | SKCM | 1 |
p.R887* | PAAD | 1 |
p.N327H | UCEC | 1 |
p.S400* | BLCA | 1 |
p.R219Q | UCEC | 1 |
p.P773S | SKCM | 1 |
p.L645M | UCEC | 1 |
p.N428I | SKCM | 1 |
p.G688D | SKCM | 1 |
p.M681I | BLCA | 1 |
p.Y460* | LUSC | 1 |
p.D845H | BRCA | 1 |
p.E319* | UCEC | 1 |
p.I613M | DLBC | 1 |
p.I310M | HNSC | 1 |
p.F693V | COAD | 1 |
p.G989S | STAD | 1 |
p.Q787X | KIRC | 1 |
p.G1007E | SKCM | 1 |
p.V894G | STAD | 1 |
p.P154L | SKCM | 1 |
p.E671* | UCEC | 1 |
p.P614S | UCEC | 1 |
p.R1038Q | SKCM | 1 |
p.S389L | SKCM | 1 |
p.P791H | LUAD | 1 |
p.H913Y | SKCM | 1 |
p.D294H | LUSC | 1 |
p.P914S | SKCM | 1 |
p.R386H | ESCA | 1 |
p.Q279X | SKCM | 1 |
p.P585L | ESCA | 1 |
p.M984I | SKCM | 1 |
p.W51L | ACC | 1 |
p.E118* | UCEC | 1 |
p.P798Q | SKCM | 1 |
p.P203L | LUSC | 1 |
p.R887Q | UCEC | 1 |
p.R242* | GBM | 1 |
p.E202K | SKCM | 1 |
p.S273L | SKCM | 1 |
p.R1036X | SKCM | 1 |
p.G575S | LUSC | 1 |
p.V926A | COAD | 1 |
p.V527E | LUAD | 1 |
p.P565S | SKCM | 1 |
p.E118K | HNSC | 1 |
p.E289K | SKCM | 1 |
p.D436N | BLCA | 1 |
p.T215N | LUAD | 1 |
p.E781K | BRCA | 1 |
p.S890L | UCEC | 1 |
p.P565L | SKCM | 1 |
p.S680F | SKCM | 1 |
p.G440S | SKCM | 1 |
p.E321* | UCEC | 1 |
p.I14V | KIRC | 1 |
p.N256K | OV | 1 |
p.P769S | SKCM | 1 |
p.G653A | BRCA | 1 |
p.R242* | STAD | 1 |
p.G487D | LGG | 1 |
p.G711* | UCEC | 1 |
p.G98R | LUAD | 1 |
p.M568I | SKCM | 1 |
p.E667D | UCEC | 1 |
p.H359Y | SKCM | 1 |
p.G592V | LUSC | 1 |
p.E60K | LUAD | 1 |
p.M425T | LUAD | 1 |
p.R1036X | THYM | 1 |
p.H42Y | STAD | 1 |
p.N188K | LGG | 1 |
p.R887X | PAAD | 1 |
p.A78D | UCEC | 1 |
p.E270K | UCEC | 1 |
p.G329* | LUAD | 1 |
p.Q1025* | SKCM | 1 |
p.D149Y | LUAD | 1 |
p.S311Y | ESCA | 1 |
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TissGeneCNV for DSG1 |
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 DSG1 |
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 | FusionScan | LUSC | TCGA-94-7033-01A | CTTN-DSG1 | In-Frame | chr11:70269101 | chr18:28906543 |
TCGAfusionPortal | PRADA | LUSC | TCGA-94-7033-01A | CTTN-DSG1 | In-frame | Chr11:70269101 | Chr18:28906544 |
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TissGeneNet for DSG1 |
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 DSG1 |
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 DSG1 |
TissGeneDrug for DSG1 |
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 DSG1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0263313 | Pemphigus Foliaceus | 34 | BeFree,GAD |
umls:C0030809 | Pemphigus Vulgaris | 23 | BeFree |
umls:C0030807 | Pemphigus | 12 | BeFree,LHGDN |
umls:C0037274 | Dermatologic disorders | 11 | BeFree |
umls:C0011436 | Dentinogenesis Imperfecta | 9 | BeFree |
umls:C0022596 | Palmoplantar Keratosis | 9 | BeFree,LHGDN |
umls:C0263314 | Pemphigus and fogo selvagem | 9 | BeFree |
umls:C0038165 | Staphylococcal Scalded Skin Syndrome | 4 | BeFree |
umls:C0004364 | Autoimmune Diseases | 3 | BeFree,LHGDN |
umls:C0022579 | Keratoderma | 3 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 2 | BeFree,LHGDN |
umls:C0021100 | Bullous impetigo | 2 | BeFree |
umls:C0030805 | Bullous pemphigoid | 2 | BeFree |
umls:C0031106 | Periodontitis, Juvenile | 2 | BeFree |
umls:C0341106 | Eosinophilic esophagitis | 2 | BeFree |
umls:C0870082 | Hyperkeratosis | 2 | BeFree |
umls:C2973527 | Dentinogenesis imperfecta without osteogenesis imperfecta | 2 | BeFree |
umls:C3809719 | ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE | 2 | BeFree,CLINVAR,ORPHANET |
umls:C0011603 | Dermatitis | 1 | BeFree,CTD_human |
umls:C0013080 | Down Syndrome | 1 | BeFree |
umls:C0014868 | Esophagitis | 1 | GAD |
umls:C0020517 | Hypersensitivity | 1 | CTD_human |
umls:C0022593 | Keratosis | 1 | BeFree |
umls:C0025202 | melanoma | 1 | BeFree |
umls:C0025517 | Metabolic Diseases | 1 | CTD_human |
umls:C0035126 | Reperfusion Injury | 1 | RGD |
umls:C0037284 | Skin lesion | 1 | BeFree |
umls:C0265962 | Ichthyosis linearis circumflexa | 1 | BeFree |
umls:C0406632 | Autoimmune skin disease | 1 | BeFree |
umls:C0406650 | Linear IgA Bullous Dermatosis | 1 | BeFree |
umls:C0740281 | Multiple allergies | 1 | BeFree |
umls:C1112570 | Paraneoplastic pemphigus | 1 | BeFree |
umls:C3539909 | Allergic disposition | 1 | BeFree |
umls:C2931122 | Keratosis palmoplantaris striata 1 | 0 | CTD_human,ORPHANET |