TissGeneSummary for DSG3 |
Gene summary |
Basic gene information | Gene symbol | DSG3 |
Gene name | desmoglein 3 | |
Synonyms | CDHF6|PVA | |
Cytomap | UCSC genome browser: 18q12.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001944.2, | |
Description | 130 kDa pemphigus vulgaris antigen130-kD pemphigus vulgaris antigencadherin family member 6desmoglein-3pemphigus vulgaris antigen | |
Modification date | 20141222 | |
dbXrefs | MIM : 169615 | |
HGNC : HGNC | ||
Ensembl : ENSG00000134757 | ||
HPRD : 01355 | ||
Vega : OTTHUMG00000131985 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DSG3 | |
BioGPS: 1830 | ||
Pathway | NCI Pathway Interaction Database: DSG3 | |
KEGG: DSG3 | ||
REACTOME: DSG3 | ||
Pathway Commons: DSG3 | ||
Context | iHOP: DSG3 | |
ligand binding site mutation search in PubMed: DSG3 | ||
UCL Cancer Institute: DSG3 | ||
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) | Esophagus | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | ESCA | |
Reference showing the relevant tissue of DSG3 | ||
Description by TissGene annotations | Cancer gene Fused withTSGene |
* 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 DSG3 |
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 |
COAD | 0.385335486 | -2.664376052 | 3.049711538 | 1.18E-05 | 5.32E-05 |
BRCA | 1.231110452 | 3.648842031 | -2.417731579 | 1.00E-08 | 3.30E-08 |
LUSC | 7.004629905 | -1.645177938 | 8.649807843 | 1.66E-23 | 3.01E-22 |
PRAD | -1.111606822 | 0.211943178 | -1.32355 | 0.00259 | 0.007347076 |
LUAD | -2.75779714 | -3.817631623 | 1.059834483 | 0.00146 | 0.003115871 |
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TissGene-miRNA for DSG3 |
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 |
ACC | hsa-let-7f-5p | MIMAT0000067 | 0.019 | -0.27 | 78 |
ACC | hsa-let-7f-5p | MIMAT0000067 | 0.019 | -0.27 | 78 |
THYM | hsa-miR-374b-5p | MIMAT0004955 | 0.0027 | -0.27 | 122 |
ACC | hsa-miR-98-5p | MIMAT0000096 | 0.016 | -0.28 | 78 |
ACC | hsa-miR-98-5p | MIMAT0000096 | 0.016 | -0.28 | 78 |
THYM | hsa-miR-374a-5p | MIMAT0000727 | 0.0017 | -0.28 | 122 |
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TissGeneMut for DSG3 |
TissGeneSNV for DSG3 |
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.D93N | SKCM | 4 |
p.E202K | SKCM | 3 |
p.M786I | SKCM | 2 |
p.R234C | SKCM | 2 |
p.E555K | SKCM | 2 |
p.G134E | SKCM | 2 |
p.G748E | SKCM | 2 |
p.T126K | LUAD | 2 |
p.G664E | SKCM | 2 |
p.S613L | SKCM | 2 |
p.E498K | SKCM | 2 |
p.S942F | SKCM | 2 |
p.P973S | SKCM | 2 |
p.M719I | SKCM | 2 |
p.D321N | SKCM | 2 |
p.P385L | SKCM | 2 |
p.R287* | UCEC | 2 |
p.V651E | GBM | 1 |
p.K400T | READ | 1 |
p.S794F | CESC | 1 |
p.R575W | SKCM | 1 |
p.D993N | SKCM | 1 |
p.H356Y | SKCM | 1 |
p.D183N | SKCM | 1 |
p.K344* | UCEC | 1 |
p.L130I | LIHC | 1 |
p.D103H | CESC | 1 |
p.S273* | LUAD | 1 |
p.G744R | SKCM | 1 |
p.C898G | OV | 1 |
p.G239C | STAD | 1 |
p.S571I | ACC | 1 |
p.A195V | SKCM | 1 |
p.N300D | UCEC | 1 |
p.M721I | SKCM | 1 |
p.C492S | LUAD | 1 |
p.A708V | LGG | 1 |
p.S548L | UCEC | 1 |
p.T987A | SKCM | 1 |
p.E35K | SKCM | 1 |
p.E803K | SKCM | 1 |
p.R983Q | SKCM | 1 |
p.S273L | BLCA | 1 |
p.E935D | ESCA | 1 |
p.R384C | SKCM | 1 |
p.L626F | ACC | 1 |
p.G380E | SKCM | 1 |
p.L148S | SKCM | 1 |
p.E28K | SKCM | 1 |
p.H356N | SKCM | 1 |
p.D453Y | READ | 1 |
p.T980M | GBM | 1 |
p.T753S | HNSC | 1 |
p.S700F | SKCM | 1 |
p.R117W | STAD | 1 |
p.P486H | LUAD | 1 |
p.D294N | SKCM | 1 |
p.D822N | BRCA | 1 |
p.A745V | SKCM | 1 |
p.D431N | SKCM | 1 |
p.A752V | BLCA | 1 |
p.P657Q | LUAD | 1 |
p.G644R | SKCM | 1 |
p.E165Q | ESCA | 1 |
p.G732V | LUAD | 1 |
p.R575W | DLBC | 1 |
p.K256R | SKCM | 1 |
p.T144M | GBM | 1 |
p.D116N | GBM | 1 |
p.G894E | SARC | 1 |
p.T371I | STAD | 1 |
p.S548W | LUSC | 1 |
p.D259N | SKCM | 1 |
p.R580H | STAD | 1 |
p.D500N | SKCM | 1 |
p.A821T | UCEC | 1 |
p.I444M | CESC | 1 |
p.G61E | SKCM | 1 |
p.P559S | SKCM | 1 |
p.G617R | BLCA | 1 |
p.G313E | SKCM | 1 |
p.R49C | UCEC | 1 |
p.K499E | SKCM | 1 |
p.E672K | SKCM | 1 |
p.S771F | DLBC | 1 |
p.R997C | COAD | 1 |
p.W301* | SKCM | 1 |
p.E317K | LUAD | 1 |
p.P507L | SKCM | 1 |
p.E295* | LUAD | 1 |
p.I922F | SKCM | 1 |
p.F5I | BLCA | 1 |
p.R362* | LUAD | 1 |
p.H667R | GBM | 1 |
p.G670V | LUAD | 1 |
p.E278* | BRCA | 1 |
p.M766I | LUAD | 1 |
p.K499T | SKCM | 1 |
p.L841M | LUAD | 1 |
p.A752V | SKCM | 1 |
p.M427I | LIHC | 1 |
p.A857S | LUAD | 1 |
p.P507S | SKCM | 1 |
p.S874Y | OV | 1 |
p.E498K | COAD | 1 |
p.Q572H | CESC | 1 |
p.G903E | SKCM | 1 |
p.D781G | UCEC | 1 |
p.G670E | SKCM | 1 |
p.E28Q | ESCA | 1 |
p.P688S | SKCM | 1 |
p.A411V | SKCM | 1 |
p.P968S | SKCM | 1 |
p.Q572* | CESC | 1 |
p.V511F | KIRC | 1 |
p.R287Q | COAD | 1 |
p.N417K | SKCM | 1 |
p.S947F | DLBC | 1 |
p.E992K | CESC | 1 |
p.G736C | UCEC | 1 |
p.C898F | LUSC | 1 |
p.D183Y | UCEC | 1 |
p.V538G | LUAD | 1 |
p.S699G | DLBC | 1 |
p.G744E | SKCM | 1 |
p.D817N | SKCM | 1 |
p.A809E | LUAD | 1 |
p.P121T | LUAD | 1 |
p.M38I | CESC | 1 |
p.E935D | UCEC | 1 |
p.E555* | LUAD | 1 |
p.A195S | DLBC | 1 |
p.G670R | GBM | 1 |
p.S731Y | LUAD | 1 |
p.E680K | SKCM | 1 |
p.A71S | STAD | 1 |
p.D76N | STAD | 1 |
p.R275H | UCEC | 1 |
p.G649E | STAD | 1 |
p.E278* | UCEC | 1 |
p.A712V | GBM | 1 |
p.G474S | SKCM | 1 |
p.G878S | STAD | 1 |
p.R287Q | UCEC | 1 |
p.W301X | SKCM | 1 |
p.D805N | UCEC | 1 |
p.G61* | LUAD | 1 |
p.S830F | SKCM | 1 |
p.K394R | UCEC | 1 |
p.R429H | LUSC | 1 |
p.G380R | SKCM | 1 |
p.T473S | GBM | 1 |
p.L550H | LUAD | 1 |
p.G23R | SKCM | 1 |
p.D259Y | COAD | 1 |
p.K854* | BLCA | 1 |
p.A821T | GBM | 1 |
p.P6H | LUAD | 1 |
p.R86Q | UCEC | 1 |
p.P95Q | LUAD | 1 |
p.E278D | UCEC | 1 |
p.G433A | THYM | 1 |
p.S231R | LUAD | 1 |
p.E354D | COAD | 1 |
p.P95S | BLCA | 1 |
p.G756V | THYM | 1 |
p.D487N | READ | 1 |
p.R26Q | STAD | 1 |
p.E819K | SKCM | 1 |
p.D243N | BLCA | 1 |
p.P600S | SKCM | 1 |
p.P600L | SKCM | 1 |
p.R964K | SKCM | 1 |
p.F836C | UCEC | 1 |
p.S921F | SKCM | 1 |
p.T824S | LUAD | 1 |
p.D413N | UCEC | 1 |
p.G894E | SKCM | 1 |
p.R384C | BRCA | 1 |
p.D864E | LUAD | 1 |
p.P493Q | LUAD | 1 |
p.R983* | UCEC | 1 |
p.E119K | SKCM | 1 |
p.R219C | STAD | 1 |
p.Q795* | BRCA | 1 |
p.S439X | COAD | 1 |
p.V237A | COAD | 1 |
p.A442G | CESC | 1 |
p.H928N | LUAD | 1 |
p.A674V | SKCM | 1 |
p.R575Q | PAAD | 1 |
p.P154T | LUAD | 1 |
p.S88A | KIRP | 1 |
p.S902L | LUSC | 1 |
p.P96T | LGG | 1 |
p.R287X | COAD | 1 |
p.A821S | BRCA | 1 |
p.G670R | SKCM | 1 |
p.M450I | SKCM | 1 |
p.A513T | OV | 1 |
p.D292N | SKCM | 1 |
p.Y77X | STAD | 1 |
p.V944M | UCEC | 1 |
p.T220N | LUAD | 1 |
p.G216V | LUAD | 1 |
p.E277K | SKCM | 1 |
p.G710C | LUAD | 1 |
p.D116N | SKCM | 1 |
p.F123I | SKCM | 1 |
p.D259Y | CESC | 1 |
p.G89E | SKCM | 1 |
p.D805N | SKCM | 1 |
p.S970Y | UCEC | 1 |
p.R234C | STAD | 1 |
p.P95S | STAD | 1 |
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TissGeneCNV for DSG3 |
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 DSG3 |
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 | AW993609 | DSG3-TNRC6B | chr18:29049117 | chr22:40730106 | |
Chimerdb3.0 | FusionScan | ESCA | TCGA-IG-A4P3-01A | DSG3-ABTB2 | In-Frame | chr18:29046717 | chr11:34226237 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A8NW-01A | DSG3-DSC3 | In-Frame | chr18:29027888 | chr18:28588491 |
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TissGeneNet for DSG3 |
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 DSG3 |
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 DSG3 |
TissGeneDrug for DSG3 |
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 DSG3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0030809 | Pemphigus Vulgaris | 56 | BeFree,GAD |
umls:C0030807 | Pemphigus | 20 | BeFree,LHGDN |
umls:C0263313 | Pemphigus Foliaceus | 14 | BeFree |
umls:C0001418 | Adenocarcinoma | 4 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 4 | BeFree,LHGDN |
umls:C0004364 | Autoimmune Diseases | 3 | BeFree |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 3 | BeFree |
umls:C0007137 | Squamous cell carcinoma | 3 | BeFree |
umls:C0037274 | Dermatologic disorders | 3 | BeFree |
umls:C0333307 | Superficial ulcer | 3 | BeFree |
umls:C0005758 | Bulla | 2 | LHGDN |
umls:C0085932 | Skin Diseases, Bullous | 2 | BeFree |
umls:C0149782 | Squamous cell carcinoma of lung | 2 | BeFree |
umls:C0151785 | Disease of mucous membrane | 2 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 2 | BeFree |
umls:C0278996 | Cancer of Head and Neck | 2 | BeFree |
umls:C0279626 | Squamous cell carcinoma of esophagus | 2 | BeFree |
umls:C0596263 | Carcinogenesis | 2 | BeFree |
umls:C0684249 | Carcinoma of lung | 2 | BeFree |
umls:C1112570 | Paraneoplastic pemphigus | 2 | BeFree |
umls:C1168401 | Squamous cell carcinoma of the head and neck | 2 | BeFree |
umls:C0007095 | Carcinoid Tumor | 1 | BeFree |
umls:C0011608 | Dermatitis Herpetiformis | 1 | BeFree |
umls:C0014859 | Esophageal Neoplasms | 1 | BeFree |
umls:C0018671 | Head and Neck Neoplasms | 1 | LHGDN |
umls:C0022578 | Keratoconus | 1 | BeFree,LHGDN |
umls:C0024121 | Lung Neoplasms | 1 | LHGDN |
umls:C0026272 | Mixed Connective Tissue Disease | 1 | BeFree |
umls:C0030567 | Parkinson Disease | 1 | GAD |
umls:C0030805 | Bullous pemphigoid | 1 | BeFree |
umls:C0032463 | Polycythemia Vera | 1 | BeFree |
umls:C0037284 | Skin lesion | 1 | BeFree |
umls:C0152018 | Esophageal carcinoma | 1 | BeFree |
umls:C0206754 | Neuroendocrine Tumors | 1 | BeFree |
umls:C0263314 | Pemphigus and fogo selvagem | 1 | BeFree |
umls:C0546837 | Malignant neoplasm of esophagus | 1 | BeFree |
umls:C0574769 | Loss of scalp hair | 1 | BeFree |
umls:C0686619 | Secondary malignant neoplasm of lymph node | 1 | BeFree |
umls:C1516170 | Cancer Cell Growth | 1 | BeFree |
umls:C1709246 | Non-Neoplastic Disorder | 1 | BeFree |
umls:C1868502 | Pemphigus vulgaris, familial | 0 | MGD |