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DYNC1I1 (dynein cytoplasmic 1 intermediate chain 1)

Identity

Alias_namesDNCI1
dynein
Alias_symbol (synonym)DNCIC1
Other alias
HGNC (Hugo) DYNC1I1
LocusID (NCBI) 1780
Atlas_Id 52486
Location 7q21.3  [Link to chromosome band 7q21]
Location_base_pair Starts at 95772506 and ends at 96098424 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)
IMMP2L (7q31.1) / DYNC1I1 (7q21.3)KMT2E (7q22.3) / DYNC1I1 (7q21.3)MET (7q31.2) / DYNC1I1 (7q21.3)
PTPN12 (7q11.23) / DYNC1I1 (7q21.3)SRPK2 (7q22.3) / DYNC1I1 (7q21.3)IMMP2L 7q31.1 / DYNC1I1 7q21.3
MET 7q31.2 / DYNC1I1 7q21.3PTPN12 7q11.23 / DYNC1I1 7q21.3SRPK2 7q22.3 / DYNC1I1 7q21.3

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(7;7)(q11;q21) PTPN12/DYNC1I1
DYNC1I1/ASB4 (7q21)
t(7;7)(q21;q22) SRPK2/DYNC1I1
t(7;7)(q21;q31) IMMP2L/DYNC1I1
t(7;7)(q21;q31) MET/DYNC1I1


External links

Nomenclature
HGNC (Hugo)DYNC1I1   2963
Cards
Entrez_Gene (NCBI)DYNC1I1  1780  dynein cytoplasmic 1 intermediate chain 1
AliasesDNCI1; DNCIC1
GeneCards (Weizmann)DYNC1I1
Ensembl hg19 (Hinxton)ENSG00000158560 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000158560 [Gene_View]  ENSG00000158560 [Sequence]  chr7:95772506-96098424 [Contig_View]  DYNC1I1 [Vega]
ICGC DataPortalENSG00000158560
TCGA cBioPortalDYNC1I1
AceView (NCBI)DYNC1I1
Genatlas (Paris)DYNC1I1
WikiGenes1780
SOURCE (Princeton)DYNC1I1
Genetics Home Reference (NIH)DYNC1I1
Genomic and cartography
GoldenPath hg38 (UCSC)DYNC1I1  -     chr7:95772506-96098424 +  7q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DYNC1I1  -     7q21.3   [Description]    (hg19-Feb_2009)
EnsemblDYNC1I1 - 7q21.3 [CytoView hg19]  DYNC1I1 - 7q21.3 [CytoView hg38]
Mapping of homologs : NCBIDYNC1I1 [Mapview hg19]  DYNC1I1 [Mapview hg38]
OMIM603772   
Gene and transcription
Genbank (Entrez)AF063228 AF123074 AK091339 AK297427 AK309419
RefSeq transcript (Entrez)NM_001135556 NM_001135557 NM_001278421 NM_001278422 NM_004411
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DYNC1I1
Cluster EST : UnigeneHs.440364 [ NCBI ]
CGAP (NCI)Hs.440364
Alternative Splicing GalleryENSG00000158560
Gene ExpressionDYNC1I1 [ NCBI-GEO ]   DYNC1I1 [ EBI - ARRAY_EXPRESS ]   DYNC1I1 [ SEEK ]   DYNC1I1 [ MEM ]
Gene Expression Viewer (FireBrowse)DYNC1I1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1780
GTEX Portal (Tissue expression)DYNC1I1
Human Protein AtlasENSG00000158560-DYNC1I1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14576   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14576  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14576
Splice isoforms : SwissVarO14576
PhosPhoSitePlusO14576
Domaine pattern : Prosite (Expaxy)WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)DYNC1I1/DYNC1I2    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)Dynein_IC2 (PF11540)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam11540    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)DYNC1I1
DMDM Disease mutations1780
Blocks (Seattle)DYNC1I1
SuperfamilyO14576
Human Protein Atlas [tissue]ENSG00000158560-DYNC1I1 [tissue]
Peptide AtlasO14576
HPRD04798
IPIIPI00022461   IPI00220137   IPI01012006   IPI01012537   IPI00220138   IPI00973774   IPI00983968   
Protein Interaction databases
DIP (DOE-UCLA)O14576
IntAct (EBI)O14576
FunCoupENSG00000158560
BioGRIDDYNC1I1
STRING (EMBL)DYNC1I1
ZODIACDYNC1I1
Ontologies - Pathways
QuickGOO14576
Ontology : AmiGOkinetochore  condensed chromosome kinetochore  spindle pole  motor activity  microtubule motor activity  protein binding  nucleus  cytoplasm  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  ER to Golgi vesicle-mediated transport  microtubule-based movement  microtubule binding  ATP-dependent microtubule motor activity, plus-end-directed  antigen processing and presentation of exogenous peptide antigen via MHC class II  dynein complex  spectrin binding  vesicle  cytoplasmic ribonucleoprotein granule  dynein light chain binding  dynein heavy chain binding  vesicle transport along microtubule  vesicle transport along microtubule  perinuclear region of cytoplasm  recycling endosome  
Ontology : EGO-EBIkinetochore  condensed chromosome kinetochore  spindle pole  motor activity  microtubule motor activity  protein binding  nucleus  cytoplasm  cytosol  cytoplasmic dynein complex  cytoplasmic dynein complex  microtubule  ER to Golgi vesicle-mediated transport  microtubule-based movement  microtubule binding  ATP-dependent microtubule motor activity, plus-end-directed  antigen processing and presentation of exogenous peptide antigen via MHC class II  dynein complex  spectrin binding  vesicle  cytoplasmic ribonucleoprotein granule  dynein light chain binding  dynein heavy chain binding  vesicle transport along microtubule  vesicle transport along microtubule  perinuclear region of cytoplasm  recycling endosome  
Pathways : KEGGPhagosome    Vasopressin-regulated water reabsorption    Salmonella infection   
NDEx NetworkDYNC1I1
Atlas of Cancer Signalling NetworkDYNC1I1
Wikipedia pathwaysDYNC1I1
Orthology - Evolution
OrthoDB1780
GeneTree (enSembl)ENSG00000158560
Phylogenetic Trees/Animal Genes : TreeFamDYNC1I1
HOVERGENO14576
HOGENOMO14576
Homologs : HomoloGeneDYNC1I1
Homology/Alignments : Family Browser (UCSC)DYNC1I1
Gene fusions - Rearrangements
Fusion : MitelmanIMMP2L/DYNC1I1 [7q31.1/7q21.3]  [t(7;7)(q21;q31)]  
Fusion : MitelmanMET/DYNC1I1 [7q31.2/7q21.3]  [t(7;7)(q21;q31)]  
Fusion : MitelmanPTPN12/DYNC1I1 [7q11.23/7q21.3]  [t(7;7)(q11;q21)]  
Fusion : MitelmanSRPK2/DYNC1I1 [7q22.3/7q21.3]  [t(7;7)(q21;q22)]  
Fusion PortalIMMP2L 7q31.1 DYNC1I1 7q21.3 GBM
Fusion PortalMET 7q31.2 DYNC1I1 7q21.3 BRCA
Fusion PortalPTPN12 7q11.23 DYNC1I1 7q21.3 LGG
Fusion PortalSRPK2 7q22.3 DYNC1I1 7q21.3 LUAD
Fusion : QuiverDYNC1I1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDYNC1I1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DYNC1I1
dbVarDYNC1I1
ClinVarDYNC1I1
1000_GenomesDYNC1I1 
Exome Variant ServerDYNC1I1
ExAC (Exome Aggregation Consortium)ENSG00000158560
GNOMAD BrowserENSG00000158560
Varsome BrowserDYNC1I1
Genetic variants : HAPMAP1780
Genomic Variants (DGV)DYNC1I1 [DGVbeta]
DECIPHERDYNC1I1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDYNC1I1 
Mutations
ICGC Data PortalDYNC1I1 
TCGA Data PortalDYNC1I1 
Broad Tumor PortalDYNC1I1
OASIS PortalDYNC1I1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDYNC1I1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDYNC1I1
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 DYNC1I1
DgiDB (Drug Gene Interaction Database)DYNC1I1
DoCM (Curated mutations)DYNC1I1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DYNC1I1 (select a term)
intoGenDYNC1I1
Cancer3DDYNC1I1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603772   
Orphanet
DisGeNETDYNC1I1
MedgenDYNC1I1
Genetic Testing Registry DYNC1I1
NextProtO14576 [Medical]
TSGene1780
GENETestsDYNC1I1
Target ValidationDYNC1I1
Huge Navigator DYNC1I1 [HugePedia]
snp3D : Map Gene to Disease1780
BioCentury BCIQDYNC1I1
ClinGenDYNC1I1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1780
Chemical/Pharm GKB GenePA27434
Clinical trialDYNC1I1
Miscellaneous
canSAR (ICR)DYNC1I1 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDYNC1I1
EVEXDYNC1I1
GoPubMedDYNC1I1
iHOPDYNC1I1
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 11:03:38 CET 2018

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