Atlas of Genetics and Cytogenetics in Oncology and Haematology

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DSG4 (desmoglein 4)

Identity

Alias (NCBI)CDGF13
CDHF13
HYPT6
LAH
HGNC (Hugo) DSG4
HGNC Alias symbCDHF13
LAH
LocusID (NCBI) 147409
Atlas_Id 62659
Location 18q12.1  [Link to chromosome band 18q12]
Location_base_pair Starts at 31376777 and ends at 31414908 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)DSG4   21307
Cards
Entrez_Gene (NCBI)DSG4  147409  desmoglein 4
AliasesCDGF13; CDHF13; HYPT6; LAH
GeneCards (Weizmann)DSG4
Ensembl hg19 (Hinxton)ENSG00000175065 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000175065 [Gene_View]  ENSG00000175065 [Sequence]  chr18:31376777-31414908 [Contig_View]  DSG4 [Vega]
ICGC DataPortalENSG00000175065
TCGA cBioPortalDSG4
AceView (NCBI)DSG4
Genatlas (Paris)DSG4
WikiGenes147409
SOURCE (Princeton)DSG4
Genetics Home Reference (NIH)DSG4
Genomic and cartography
GoldenPath hg38 (UCSC)DSG4  -     chr18:31376777-31414908 +  18q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DSG4  -     18q12.1   [Description]    (hg19-Feb_2009)
GoldenPathDSG4 - 18q12.1 [CytoView hg19]  DSG4 - 18q12.1 [CytoView hg38]
ImmunoBaseENSG00000175065
genome Data Viewer NCBIDSG4 [Mapview hg19]  
OMIM607892   607903   
Gene and transcription
Genbank (Entrez)AY168788 AY177664 AY227350 AY228236 BC039098
RefSeq transcript (Entrez)NM_001134453 NM_177986
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DSG4
Alternative Splicing GalleryENSG00000175065
Gene ExpressionDSG4 [ NCBI-GEO ]   DSG4 [ EBI - ARRAY_EXPRESS ]   DSG4 [ SEEK ]   DSG4 [ MEM ]
Gene Expression Viewer (FireBrowse)DSG4 [ Firebrowse - Broad ]
GenevisibleExpression of DSG4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)147409
GTEX Portal (Tissue expression)DSG4
Human Protein AtlasENSG00000175065-DSG4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86SJ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86SJ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86SJ6
Splice isoforms : SwissVarQ86SJ6
PhosPhoSitePlusQ86SJ6
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin-like_dom    Cadherin-like_sf    Cadherin_CS    Cadherin_cytoplasmic-dom    Catenin_binding_dom_sf    Desmoglein    Desmosomal_cadherin   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_C (PF01049)   
Domain families : Pfam (NCBI)pfam00028    pfam01049   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)DSG4
DMDM Disease mutations147409
Blocks (Seattle)DSG4
SuperfamilyQ86SJ6
Human Protein Atlas [tissue]ENSG00000175065-DSG4 [tissue]
Peptide AtlasQ86SJ6
HPRD06387
IPIIPI00515022   IPI00428691   
Protein Interaction databases
DIP (DOE-UCLA)Q86SJ6
IntAct (EBI)Q86SJ6
FunCoupENSG00000175065
BioGRIDDSG4
STRING (EMBL)DSG4
ZODIACDSG4
Ontologies - Pathways
QuickGOQ86SJ6
Ontology : AmiGOcornified envelope  hair follicle development  calcium ion binding  plasma membrane  cell-cell junction  homophilic cell adhesion via plasma membrane adhesion molecules  integral component of membrane  desmosome  BMP signaling pathway  keratinization  cornification  cell-cell adhesion  
Ontology : EGO-EBIcornified envelope  hair follicle development  calcium ion binding  plasma membrane  cell-cell junction  homophilic cell adhesion via plasma membrane adhesion molecules  integral component of membrane  desmosome  BMP signaling pathway  keratinization  cornification  cell-cell adhesion  
Pathways : KEGGCell Communication   
NDEx NetworkDSG4
Atlas of Cancer Signalling NetworkDSG4
Wikipedia pathwaysDSG4
Orthology - Evolution
OrthoDB147409
GeneTree (enSembl)ENSG00000175065
Phylogenetic Trees/Animal Genes : TreeFamDSG4
HOGENOMQ86SJ6
Homologs : HomoloGeneDSG4
Homology/Alignments : Family Browser (UCSC)DSG4
Gene fusions - Rearrangements
Fusion : QuiverDSG4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDSG4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DSG4
dbVarDSG4
ClinVarDSG4
1000_GenomesDSG4 
Exome Variant ServerDSG4
GNOMAD BrowserENSG00000175065
Varsome BrowserDSG4
Genetic variants : HAPMAP147409
Genomic Variants (DGV)DSG4 [DGVbeta]
DECIPHERDSG4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDSG4 
Mutations
ICGC Data PortalDSG4 
TCGA Data PortalDSG4 
Broad Tumor PortalDSG4
OASIS PortalDSG4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDSG4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDSG4
Mutations and Diseases : HGMDDSG4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch DSG4
DgiDB (Drug Gene Interaction Database)DSG4
DoCM (Curated mutations)DSG4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DSG4 (select a term)
intoGenDSG4
Cancer3DDSG4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607892    607903   
Orphanet8581    10760   
DisGeNETDSG4
MedgenDSG4
Genetic Testing Registry DSG4
NextProtQ86SJ6 [Medical]
TSGene147409
GENETestsDSG4
Target ValidationDSG4
Huge Navigator DSG4 [HugePedia]
snp3D : Map Gene to Disease147409
BioCentury BCIQDSG4
ClinGenDSG4
Clinical trials, drugs, therapy
Protein Interactions : CTD147409
Pharm GKB GenePA134925919
Clinical trialDSG4
Miscellaneous
canSAR (ICR)DSG4 (select the gene name)
HarmonizomeDSG4
DataMed IndexDSG4
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDSG4
EVEXDSG4
GoPubMedDSG4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 15:53:53 CEST 2020
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