Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

DTNBP1 (dystrobrevin binding protein 1)

Identity

Alias_symbol (synonym)Dysbindin
My031
HPS7
DBND
BLOC1S8
Other aliasSDY
HGNC (Hugo) DTNBP1
LocusID (NCBI) 84062
Atlas_Id 55950
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 15523571 and ends at 15663058 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)
DTNBP1 (6p22.3) / DNAH8 (6p21.2)DTNBP1 (6p22.3) / RSBN1L (7q11.23)FRK (6q22.1) / DTNBP1 (6p22.3)
GPR146 (7p22.3) / DTNBP1 (6p22.3)RICTOR (5p13.1) / DTNBP1 (6p22.3)

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) [ 5 ]
  t(5;6)(p13;p22) RICTOR/DTNBP1
t(6;6)(p21;p22) DTNBP1/DNAH8
t(6;6)(p22;q22) FRK/DTNBP1
t(6;7)(p22;p22) GPR146/DTNBP1
t(6;7)(p22;q11) DTNBP1/RSBN1L


External links

Nomenclature
HGNC (Hugo)DTNBP1   17328
LRG (Locus Reference Genomic)LRG_588
Cards
Entrez_Gene (NCBI)DTNBP1  84062  dystrobrevin binding protein 1
AliasesBLOC1S8; DBND; HPS7; My031; 
SDY
GeneCards (Weizmann)DTNBP1
Ensembl hg19 (Hinxton)ENSG00000047579 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000047579 [Gene_View]  ENSG00000047579 [Sequence]  chr6:15523571-15663058 [Contig_View]  DTNBP1 [Vega]
ICGC DataPortalENSG00000047579
TCGA cBioPortalDTNBP1
AceView (NCBI)DTNBP1
Genatlas (Paris)DTNBP1
WikiGenes84062
SOURCE (Princeton)DTNBP1
Genetics Home Reference (NIH)DTNBP1
Genomic and cartography
GoldenPath hg38 (UCSC)DTNBP1  -     chr6:15523571-15663058 -  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DTNBP1  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblDTNBP1 - 6p22.3 [CytoView hg19]  DTNBP1 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBIDTNBP1 [Mapview hg19]  DTNBP1 [Mapview hg38]
OMIM607145   614076   
Gene and transcription
Genbank (Entrez)AF061734 AF394226 AI097393 AK054593 AK290718
RefSeq transcript (Entrez)NM_001271667 NM_001271668 NM_001271669 NM_032122 NM_183040
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DTNBP1
Cluster EST : UnigeneHs.571148 [ NCBI ]
CGAP (NCI)Hs.571148
Alternative Splicing GalleryENSG00000047579
Gene ExpressionDTNBP1 [ NCBI-GEO ]   DTNBP1 [ EBI - ARRAY_EXPRESS ]   DTNBP1 [ SEEK ]   DTNBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)DTNBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84062
GTEX Portal (Tissue expression)DTNBP1
Human Protein AtlasENSG00000047579-DTNBP1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96EV8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96EV8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96EV8
Splice isoforms : SwissVarQ96EV8
PhosPhoSitePlusQ96EV8
Domains : Interpro (EBI)Dysbindin   
Domain families : Pfam (Sanger)Dysbindin (PF04440)   
Domain families : Pfam (NCBI)pfam04440   
Conserved Domain (NCBI)DTNBP1
DMDM Disease mutations84062
Blocks (Seattle)DTNBP1
SuperfamilyQ96EV8
Human Protein Atlas [tissue]ENSG00000047579-DTNBP1 [tissue]
Peptide AtlasQ96EV8
HPRD06190
IPIIPI00328918   IPI00394984   IPI00479571   IPI01011214   IPI00847171   IPI00967053   IPI00965263   IPI00965525   IPI00965075   IPI00965847   
Protein Interaction databases
DIP (DOE-UCLA)Q96EV8
IntAct (EBI)Q96EV8
FunCoupENSG00000047579
BioGRIDDTNBP1
STRING (EMBL)DTNBP1
ZODIACDTNBP1
Ontologies - Pathways
QuickGOQ96EV8
Ontology : AmiGOpositive regulation of neurotransmitter secretion  protein binding  nucleus  cytoplasm  endoplasmic reticulum membrane  cytosol  blood coagulation  anterograde axonal transport  endosome membrane  positive regulation of gene expression  regulation of dopamine secretion  postsynaptic density  microtubule cytoskeleton  sarcoplasm  cell junction  axon  growth cone  midbody  synaptic vesicle membrane  synaptic vesicle membrane  BLOC-1 complex  neuron projection development  actin cytoskeleton reorganization  negative regulation of protein binding  melanosome organization  melanosome membrane  sarcolemma  neuron projection  dendritic spine  regulation of JUN kinase activity  postsynaptic membrane  anterograde synaptic vesicle transport  neuron projection morphogenesis  dendrite morphogenesis  platelet dense granule organization  regulation of dopamine receptor signaling pathway  negative regulation of protein serine/threonine kinase activity  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  glutamatergic synapse  axon cytoplasm  regulation of synaptic vesicle exocytosis  
Ontology : EGO-EBIpositive regulation of neurotransmitter secretion  protein binding  nucleus  cytoplasm  endoplasmic reticulum membrane  cytosol  blood coagulation  anterograde axonal transport  endosome membrane  positive regulation of gene expression  regulation of dopamine secretion  postsynaptic density  microtubule cytoskeleton  sarcoplasm  cell junction  axon  growth cone  midbody  synaptic vesicle membrane  synaptic vesicle membrane  BLOC-1 complex  neuron projection development  actin cytoskeleton reorganization  negative regulation of protein binding  melanosome organization  melanosome membrane  sarcolemma  neuron projection  dendritic spine  regulation of JUN kinase activity  postsynaptic membrane  anterograde synaptic vesicle transport  neuron projection morphogenesis  dendrite morphogenesis  platelet dense granule organization  regulation of dopamine receptor signaling pathway  negative regulation of protein serine/threonine kinase activity  Schaffer collateral - CA1 synapse  hippocampal mossy fiber to CA3 synapse  glutamatergic synapse  axon cytoplasm  regulation of synaptic vesicle exocytosis  
NDEx NetworkDTNBP1
Atlas of Cancer Signalling NetworkDTNBP1
Wikipedia pathwaysDTNBP1
Orthology - Evolution
OrthoDB84062
GeneTree (enSembl)ENSG00000047579
Phylogenetic Trees/Animal Genes : TreeFamDTNBP1
HOVERGENQ96EV8
HOGENOMQ96EV8
Homologs : HomoloGeneDTNBP1
Homology/Alignments : Family Browser (UCSC)DTNBP1
Gene fusions - Rearrangements
Fusion : QuiverDTNBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDTNBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DTNBP1
dbVarDTNBP1
ClinVarDTNBP1
1000_GenomesDTNBP1 
Exome Variant ServerDTNBP1
ExAC (Exome Aggregation Consortium)ENSG00000047579
GNOMAD BrowserENSG00000047579
Varsome BrowserDTNBP1
Genetic variants : HAPMAP84062
Genomic Variants (DGV)DTNBP1 [DGVbeta]
DECIPHERDTNBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDTNBP1 
Mutations
ICGC Data PortalDTNBP1 
TCGA Data PortalDTNBP1 
Broad Tumor PortalDTNBP1
OASIS PortalDTNBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDTNBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDTNBP1
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
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
BioMutasearch DTNBP1
DgiDB (Drug Gene Interaction Database)DTNBP1
DoCM (Curated mutations)DTNBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DTNBP1 (select a term)
intoGenDTNBP1
Cancer3DDTNBP1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607145    614076   
Orphanet19198   
DisGeNETDTNBP1
MedgenDTNBP1
Genetic Testing Registry DTNBP1
NextProtQ96EV8 [Medical]
TSGene84062
GENETestsDTNBP1
Target ValidationDTNBP1
Huge Navigator DTNBP1 [HugePedia]
snp3D : Map Gene to Disease84062
BioCentury BCIQDTNBP1
ClinGenDTNBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84062
Chemical/Pharm GKB GenePA27512
Clinical trialDTNBP1
Miscellaneous
canSAR (ICR)DTNBP1 (select the gene name)
Probes
Litterature
PubMed190 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDTNBP1
EVEXDTNBP1
GoPubMedDTNBP1
iHOPDTNBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:03:25 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.