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OBSCN (obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF)

Identity

Alias_symbol (synonym)KIAA1556
UNC89
KIAA1639
ARHGEF30
Other alias
HGNC (Hugo) OBSCN
LocusID (NCBI) 84033
Atlas_Id 43385
Location 1q42.13  [Link to chromosome band 1q42]
Location_base_pair Starts at 228208130 and ends at 228378874 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)
CIRBP-AS1 (19p13.3) / OBSCN (1q42.13)OBSCN (1q42.13) / CASZ1 (1p36.22)OBSCN (1q42.13) / DISC1 (1q42.2)
OBSCN (1q42.13) / IGSF21 (1p36.13)RNF187 (1q42.13) / OBSCN (1q42.13)OBSCN 1q42.13 / CASZ1 1p36.22
OBSCN 1q42.13 / DISC1 1q42.2OBSCN 1q42.13 / IGSF21 1p36.13

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)OBSCN   15719
LRG (Locus Reference Genomic)LRG_412
Cards
Entrez_Gene (NCBI)OBSCN  84033  obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
AliasesARHGEF30; UNC89
GeneCards (Weizmann)OBSCN
Ensembl hg19 (Hinxton)ENSG00000154358 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154358 [Gene_View]  chr1:228208130-228378874 [Contig_View]  OBSCN [Vega]
ICGC DataPortalENSG00000154358
TCGA cBioPortalOBSCN
AceView (NCBI)OBSCN
Genatlas (Paris)OBSCN
WikiGenes84033
SOURCE (Princeton)OBSCN
Genetics Home Reference (NIH)OBSCN
Genomic and cartography
GoldenPath hg38 (UCSC)OBSCN  -     chr1:228208130-228378874 +  1q42.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OBSCN  -     1q42.13   [Description]    (hg19-Feb_2009)
EnsemblOBSCN - 1q42.13 [CytoView hg19]  OBSCN - 1q42.13 [CytoView hg38]
Mapping of homologs : NCBIOBSCN [Mapview hg19]  OBSCN [Mapview hg38]
OMIM608616   
Gene and transcription
Genbank (Entrez)AB046776 AB046859 AJ002535 AK024186 AK097489
RefSeq transcript (Entrez)NM_001098623 NM_001271223 NM_052843
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OBSCN
Cluster EST : UnigeneHs.656999 [ NCBI ]
CGAP (NCI)Hs.656999
Alternative Splicing GalleryENSG00000154358
Gene ExpressionOBSCN [ NCBI-GEO ]   OBSCN [ EBI - ARRAY_EXPRESS ]   OBSCN [ SEEK ]   OBSCN [ MEM ]
Gene Expression Viewer (FireBrowse)OBSCN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84033
GTEX Portal (Tissue expression)OBSCN
Human Protein AtlasENSG00000154358-OBSCN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VST9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VST9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VST9
Splice isoforms : SwissVarQ5VST9
PhosPhoSitePlusQ5VST9
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    FN3 (PS50853)    IG_LIKE (PS50835)    IQ (PS50096)    PH_DOMAIN (PS50003)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_ST (PS00108)    PROTEIN_KINASE_TYR (PS00109)   
Domains : Interpro (EBI)DH-domain    FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Ig_V-set    IQ_motif_EF-hand-BS    Kinase-like_dom    PH_dom-like    PH_domain    Prot_kinase_dom    Protein_kinase_ATP_BS    Ser/Thr_kinase_AS    SH3_domain    Tyr_kinase_AS   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    IQ (PF00612)    Pkinase (PF00069)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam00612    pfam00069    pfam00621   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  IGv (SM00406)  IQ (SM00015)  PH (SM00233)  RhoGEF (SM00325)  S_TKc (SM00220)  
Conserved Domain (NCBI)OBSCN
DMDM Disease mutations84033
Blocks (Seattle)OBSCN
PDB (SRS)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
PDB (PDBSum)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
PDB (IMB)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
PDB (RSDB)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
Structural Biology KnowledgeBase1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
SCOP (Structural Classification of Proteins)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
CATH (Classification of proteins structures)1V1C    2CR6    2DKU    2DM7    2E7B    2EDF    2EDH    2EDL    2EDQ    2EDR    2EDT    2EDW    2ENY    2EO1    2GQH    2MWC    2N56    2YZ8    4C4K    4RSV   
SuperfamilyQ5VST9
Human Protein Atlas [tissue]ENSG00000154358-OBSCN [tissue]
Peptide AtlasQ5VST9
HPRD08594
IPIIPI00288940   IPI00742748   IPI00744119   IPI00479915   IPI00854629   IPI00953396   IPI00016383   IPI00641787   
Protein Interaction databases
DIP (DOE-UCLA)Q5VST9
IntAct (EBI)Q5VST9
FunCoupENSG00000154358
BioGRIDOBSCN
STRING (EMBL)OBSCN
ZODIACOBSCN
Ontologies - Pathways
QuickGOQ5VST9
Ontology : AmiGOprotein serine/threonine kinase activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  calmodulin binding  ATP binding  cytosol  cytosol  plasma membrane  protein phosphorylation  multicellular organism development  structural constituent of muscle  nuclear body  myofibril  Z disc  ankyrin binding  M band  titin binding  regulation of Rho protein signal transduction  protein localization to M-band  sarcolemma  positive regulation of apoptotic process  positive regulation of GTPase activity  sarcomere organization  metal ion binding  regulation of small GTPase mediated signal transduction  
Ontology : EGO-EBIprotein serine/threonine kinase activity  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  protein binding  calmodulin binding  ATP binding  cytosol  cytosol  plasma membrane  protein phosphorylation  multicellular organism development  structural constituent of muscle  nuclear body  myofibril  Z disc  ankyrin binding  M band  titin binding  regulation of Rho protein signal transduction  protein localization to M-band  sarcolemma  positive regulation of apoptotic process  positive regulation of GTPase activity  sarcomere organization  metal ion binding  regulation of small GTPase mediated signal transduction  
NDEx NetworkOBSCN
Atlas of Cancer Signalling NetworkOBSCN
Wikipedia pathwaysOBSCN
Orthology - Evolution
OrthoDB84033
GeneTree (enSembl)ENSG00000154358
Phylogenetic Trees/Animal Genes : TreeFamOBSCN
HOVERGENQ5VST9
HOGENOMQ5VST9
Homologs : HomoloGeneOBSCN
Homology/Alignments : Family Browser (UCSC)OBSCN
Gene fusions - Rearrangements
Fusion : MitelmanOBSCN/CASZ1 [1q42.13/1p36.22]  
Fusion : MitelmanOBSCN/DISC1 [1q42.13/1q42.2]  [t(1;1)(q42;q42)]  
Fusion : MitelmanOBSCN/IGSF21 [1q42.13/1p36.13]  [t(1;1)(p36;q42)]  
Fusion : MitelmanRNF187/OBSCN [1q42.13/1q42.13]  [t(1;1)(q42;q42)]  
Fusion: TCGA_MDACCOBSCN 1q42.13 CASZ1 1p36.22 HNSC
Fusion: TCGA_MDACCOBSCN 1q42.13 DISC1 1q42.2 SKCM
Fusion: TCGA_MDACCOBSCN 1q42.13 IGSF21 1p36.13 BRCA
Tumor Fusion PortalOBSCN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOBSCN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OBSCN
dbVarOBSCN
ClinVarOBSCN
1000_GenomesOBSCN 
Exome Variant ServerOBSCN
ExAC (Exome Aggregation Consortium)ENSG00000154358
GNOMAD BrowserENSG00000154358
Genetic variants : HAPMAP84033
Genomic Variants (DGV)OBSCN [DGVbeta]
DECIPHEROBSCN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOBSCN 
Mutations
ICGC Data PortalOBSCN 
TCGA Data PortalOBSCN 
Broad Tumor PortalOBSCN
OASIS PortalOBSCN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOBSCN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOBSCN
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 OBSCN
DgiDB (Drug Gene Interaction Database)OBSCN
DoCM (Curated mutations)OBSCN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OBSCN (select a term)
intoGenOBSCN
Cancer3DOBSCN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608616   
Orphanet
DisGeNETOBSCN
MedgenOBSCN
Genetic Testing Registry OBSCN
NextProtQ5VST9 [Medical]
TSGene84033
GENETestsOBSCN
Target ValidationOBSCN
Huge Navigator OBSCN [HugePedia]
snp3D : Map Gene to Disease84033
BioCentury BCIQOBSCN
ClinGenOBSCN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84033
Chemical/Pharm GKB GenePA31888
Clinical trialOBSCN
Miscellaneous
canSAR (ICR)OBSCN (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOBSCN
EVEXOBSCN
GoPubMedOBSCN
iHOPOBSCN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:27:07 CET 2017

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