Atlas of Genetics and Cytogenetics in Oncology and Haematology


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DST (dystonin)

Identity

Alias_namesBPAG1
bullous pemphigoid antigen 1
Alias_symbol (synonym)BP240
KIAA0728
FLJ21489
FLJ13425
FLJ32235
FLJ30627
CATX-15
BPA
MACF2
Other aliasCATX15
D6S1101
DMH
DT
EBSB2
HSAN6
HGNC (Hugo) DST
LocusID (NCBI) 667
Atlas_Id 826
Location 6p12.1  [Link to chromosome band 6p12]
Location_base_pair Starts at 56457987 and ends at 56843665 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)
DST (6p12.1) / DST (6p12.1)DST (6p12.1) / EYS (6q12)DST (6p12.1) / FBLN5 (14q32.12)
DST (6p12.1) / GLB1 (3p22.3)DST (6p12.1) / HCST (19q13.12)DST (6p12.1) / KIAA0319L (1p34.3)
DST (6p12.1) / MAN1A2 (1p12)DST (6p12.1) / PSMD2 (3q27.1)DST (6p12.1) / SDF4 (1p36.33)
DST (6p12.1) / TRIM38 (6p22.2)GORAB (1q24.2) / DST (6p12.1)HIVEP1 (6p24.1) / DST (6p12.1)
KCNQ5 (6q13) / DST (6p12.1)MYL6 (12q13.2) / DST (6p12.1)RPL38 (17q25.1) / DST (6p12.1)
SLC44A2 (19p13.2) / DST (6p12.1)SPIDR (8q11.21) / DST (6p12.1)DST 6p12.1 / EYS 6q12
DST 6p12.1 / FBLN5 14q32.12DST 6p12.1 / HCST 19q13.12DST 6p12.1 / KIAA0319L 1p34.3
DST 6p12.1 / TRIM38 6p22.2HIVEP1 6p24.1 / DST 6p12.1KCNQ5 6q13 / DST 6p12.1

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 7 ]
  t(1;6)(p34;p12) DST/KIAA0319L
t(6;6)(p12;p22) DST/TRIM38
t(6;6)(p12;p24) HIVEP1/DST
t(6;6)(p12;q12) DST/EYS
t(6;6)(p12;q13) KCNQ5/DST
t(6;14)(p12;q32) DST/FBLN5
t(6;19)(p12;q13) DST/HCST


External links

Nomenclature
HGNC (Hugo)DST   1090
Cards
Entrez_Gene (NCBI)DST  667  dystonin
AliasesBP240; BPA; BPAG1; CATX-15; 
CATX15; D6S1101; DMH; DT; EBSB2; HSAN6; MACF2
GeneCards (Weizmann)DST
Ensembl hg19 (Hinxton)ENSG00000151914 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000151914 [Gene_View]  ENSG00000151914 [Sequence]  chr6:56457987-56843665 [Contig_View]  DST [Vega]
ICGC DataPortalENSG00000151914
TCGA cBioPortalDST
AceView (NCBI)DST
Genatlas (Paris)DST
WikiGenes667
SOURCE (Princeton)DST
Genetics Home Reference (NIH)DST
Genomic and cartography
GoldenPath hg38 (UCSC)DST  -     chr6:56457987-56843665 -  6p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DST  -     6p12.1   [Description]    (hg19-Feb_2009)
EnsemblDST - 6p12.1 [CytoView hg19]  DST - 6p12.1 [CytoView hg38]
Mapping of homologs : NCBIDST [Mapview hg19]  DST [Mapview hg38]
OMIM113810   614653   615425   
Gene and transcription
Genbank (Entrez)AA150769 AB018271 AF083131 AF165191 AF400226
RefSeq transcript (Entrez)NM_001144769 NM_001144770 NM_001144771 NM_001723 NM_015548 NM_020388 NM_183380
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DST
Cluster EST : UnigeneHs.735651 [ NCBI ]
CGAP (NCI)Hs.735651
Alternative Splicing GalleryENSG00000151914
Gene ExpressionDST [ NCBI-GEO ]   DST [ EBI - ARRAY_EXPRESS ]   DST [ SEEK ]   DST [ MEM ]
Gene Expression Viewer (FireBrowse)DST [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)667
GTEX Portal (Tissue expression)DST
Human Protein AtlasENSG00000151914-DST [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ03001   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ03001  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ03001
Splice isoforms : SwissVarQ03001
PhosPhoSitePlusQ03001
Domaine pattern : Prosite (Expaxy)ACTININ_1 (PS00019)    ACTININ_2 (PS00020)    CH (PS50021)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    GAR (PS51460)    SH3 (PS50002)   
Domains : Interpro (EBI)Actinin_actin-bd_CS    CH-domain    CH_dom_sf    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    GAR_dom    GAR_dom_sf    Plakin_repeat_sf    Plectin_repeat    Spectrin/alpha-actinin    Spectrin_repeat   
Domain families : Pfam (Sanger)CH (PF00307)    EF-hand_7 (PF13499)    GAS2 (PF02187)    Plectin (PF00681)    Spectrin (PF00435)   
Domain families : Pfam (NCBI)pfam00307    pfam13499    pfam02187    pfam00681    pfam00435   
Domain families : Smart (EMBL)CH (SM00033)  EFh (SM00054)  GAS2 (SM00243)  PLEC (SM00250)  SPEC (SM00150)  
Conserved Domain (NCBI)DST
DMDM Disease mutations667
Blocks (Seattle)DST
PDB (SRS)3GJO   
PDB (PDBSum)3GJO   
PDB (IMB)3GJO   
PDB (RSDB)3GJO   
Structural Biology KnowledgeBase3GJO   
SCOP (Structural Classification of Proteins)3GJO   
CATH (Classification of proteins structures)3GJO   
SuperfamilyQ03001
Human Protein Atlas [tissue]ENSG00000151914-DST [tissue]
Peptide AtlasQ03001
HPRD00222
IPIIPI00816328   IPI01018800   IPI00217992   IPI01018799   IPI00142768   IPI00642259   IPI00645369   IPI00074148   IPI01015366   IPI00956289   IPI00386233   IPI00979196   IPI00984823   IPI00747958   IPI00983535   IPI01011509   IPI00983436   IPI00984222   
Protein Interaction databases
DIP (DOE-UCLA)Q03001
IntAct (EBI)Q03001
FunCoupENSG00000151914
BioGRIDDST
STRING (EMBL)DST
ZODIACDST
Ontologies - Pathways
QuickGOQ03001
Ontology : AmiGOactin binding  integrin binding  structural molecule activity  calcium ion binding  protein binding  basement membrane  nucleus  nucleus  nuclear envelope  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  cytosol  intermediate filament  intermediate filament  focal adhesion  focal adhesion  cell cortex  cytoskeleton organization  cell adhesion  integrin-mediated signaling pathway  microtubule binding  protein C-terminus binding  retrograde axonal transport  response to wounding  basal plasma membrane  microtubule cytoskeleton  membrane  integral component of membrane  maintenance of cell polarity  Z disc  hemidesmosome  hemidesmosome  cytoplasmic microtubule organization  cell leading edge  cytoplasmic vesicle  hemidesmosome assembly  H zone  microtubule plus-end  wound healing  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  cadherin binding  cell motility  microtubule plus-end binding  axon cytoplasm  
Ontology : EGO-EBIactin binding  integrin binding  structural molecule activity  calcium ion binding  protein binding  basement membrane  nucleus  nucleus  nuclear envelope  cytoplasm  cytoplasm  cytoplasm  endoplasmic reticulum membrane  cytosol  cytosol  intermediate filament  intermediate filament  focal adhesion  focal adhesion  cell cortex  cytoskeleton organization  cell adhesion  integrin-mediated signaling pathway  microtubule binding  protein C-terminus binding  retrograde axonal transport  response to wounding  basal plasma membrane  microtubule cytoskeleton  membrane  integral component of membrane  maintenance of cell polarity  Z disc  hemidesmosome  hemidesmosome  cytoplasmic microtubule organization  cell leading edge  cytoplasmic vesicle  hemidesmosome assembly  H zone  microtubule plus-end  wound healing  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  intermediate filament cytoskeleton organization  cadherin binding  cell motility  microtubule plus-end binding  axon cytoplasm  
NDEx NetworkDST
Atlas of Cancer Signalling NetworkDST
Wikipedia pathwaysDST
Orthology - Evolution
OrthoDB667
GeneTree (enSembl)ENSG00000151914
Phylogenetic Trees/Animal Genes : TreeFamDST
HOVERGENQ03001
HOGENOMQ03001
Homologs : HomoloGeneDST
Homology/Alignments : Family Browser (UCSC)DST
Gene fusions - Rearrangements
Fusion : MitelmanDST/EYS [6p12.1/6q12]  
Fusion : MitelmanDST/FBLN5 [6p12.1/14q32.12]  [t(6;14)(p12;q32)]  
Fusion : MitelmanDST/HCST [6p12.1/19q13.12]  [t(6;19)(p12;q13)]  
Fusion : MitelmanDST/KIAA0319L [6p12.1/1p34.3]  [t(1;6)(p34;p12)]  
Fusion : MitelmanDST/TRIM38 [6p12.1/6p22.2]  [t(6;6)(p12;p22)]  
Fusion : MitelmanHIVEP1/DST [6p24.1/6p12.1]  [t(6;6)(p12;p24)]  
Fusion : MitelmanKCNQ5/DST [6q13/6p12.1]  [t(6;6)(p12;q13)]  
Fusion PortalDST 6p12.1 EYS 6q12 GBM
Fusion PortalDST 6p12.1 FBLN5 14q32.12 HNSC
Fusion PortalDST 6p12.1 HCST 19q13.12 LUAD
Fusion PortalDST 6p12.1 KIAA0319L 1p34.3 BRCA
Fusion PortalDST 6p12.1 TRIM38 6p22.2 LUSC
Fusion PortalHIVEP1 6p24.1 DST 6p12.1 BRCA
Fusion PortalKCNQ5 6q13 DST 6p12.1 LUSC
Fusion : QuiverDST
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDST [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DST
dbVarDST
ClinVarDST
1000_GenomesDST 
Exome Variant ServerDST
ExAC (Exome Aggregation Consortium)ENSG00000151914
GNOMAD BrowserENSG00000151914
Varsome BrowserDST
Genetic variants : HAPMAP667
Genomic Variants (DGV)DST [DGVbeta]
DECIPHERDST [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDST 
Mutations
ICGC Data PortalDST 
TCGA Data PortalDST 
Broad Tumor PortalDST
OASIS PortalDST [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDST  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDST
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 DST
DgiDB (Drug Gene Interaction Database)DST
DoCM (Curated mutations)DST (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DST (select a term)
intoGenDST
Cancer3DDST(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM113810    614653    615425   
Orphanet21478    23043   
DisGeNETDST
MedgenDST
Genetic Testing Registry DST
NextProtQ03001 [Medical]
TSGene667
GENETestsDST
Target ValidationDST
Huge Navigator DST [HugePedia]
snp3D : Map Gene to Disease667
BioCentury BCIQDST
ClinGenDST
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD667
Chemical/Pharm GKB GenePA25399
Clinical trialDST
Miscellaneous
canSAR (ICR)DST (select the gene name)
Probes
Litterature
PubMed105 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDST
EVEXDST
GoPubMedDST
iHOPDST
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:20:08 CEST 2018

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