Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OBSL1 (obscurin like 1)

Identity

Alias_symbol (synonym)KIAA0657
Other alias-
HGNC (Hugo) OBSL1
LocusID (NCBI) 23363
Atlas_Id 71088
Location 2q35  [Link to chromosome band 2q35]
Location_base_pair Starts at 219561716 and ends at 219571546 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)
HSPB1 (7q11.23) / OBSL1 (2q35)

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)OBSL1   29092
Cards
Entrez_Gene (NCBI)OBSL1  23363  obscurin like 1
Aliases
GeneCards (Weizmann)OBSL1
Ensembl hg19 (Hinxton)ENSG00000124006 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000124006 [Gene_View]  chr2:219561716-219571546 [Contig_View]  OBSL1 [Vega]
ICGC DataPortalENSG00000124006
TCGA cBioPortalOBSL1
AceView (NCBI)OBSL1
Genatlas (Paris)OBSL1
WikiGenes23363
SOURCE (Princeton)OBSL1
Genetics Home Reference (NIH)OBSL1
Genomic and cartography
GoldenPath hg38 (UCSC)OBSL1  -     chr2:219561716-219571546 -  2q35   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OBSL1  -     2q35   [Description]    (hg19-Feb_2009)
EnsemblOBSL1 - 2q35 [CytoView hg19]  OBSL1 - 2q35 [CytoView hg38]
Mapping of homologs : NCBIOBSL1 [Mapview hg19]  OBSL1 [Mapview hg38]
OMIM610991   612921   
Gene and transcription
Genbank (Entrez)AB014557 AF035292 AK023854 AK025946 AK299261
RefSeq transcript (Entrez)NM_001173408 NM_001173431 NM_015311
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OBSL1
Cluster EST : UnigeneHs.526594 [ NCBI ]
CGAP (NCI)Hs.526594
Alternative Splicing GalleryENSG00000124006
Gene ExpressionOBSL1 [ NCBI-GEO ]   OBSL1 [ EBI - ARRAY_EXPRESS ]   OBSL1 [ SEEK ]   OBSL1 [ MEM ]
Gene Expression Viewer (FireBrowse)OBSL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23363
GTEX Portal (Tissue expression)OBSL1
Human Protein AtlasENSG00000124006-OBSL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75147   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75147  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75147
Splice isoforms : SwissVarO75147
PhosPhoSitePlusO75147
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)   
Domains : Interpro (EBI)FN3_dom    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2   
Domain families : Pfam (Sanger)I-set (PF07679)   
Domain families : Pfam (NCBI)pfam07679   
Domain families : Smart (EMBL)IG (SM00409)  IGc2 (SM00408)  
Conserved Domain (NCBI)OBSL1
DMDM Disease mutations23363
Blocks (Seattle)OBSL1
PDB (SRS)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
PDB (PDBSum)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
PDB (IMB)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
PDB (RSDB)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
Structural Biology KnowledgeBase2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
SCOP (Structural Classification of Proteins)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
CATH (Classification of proteins structures)2CPC    2E6P    2E6Q    2LU7    2LVC    2WP3    2WWK    2WWM    3KNB    5FM5   
SuperfamilyO75147
Human Protein Atlas [tissue]ENSG00000124006-OBSL1 [tissue]
Peptide AtlasO75147
IPIIPI00883737   IPI00306305   IPI00893234   IPI00956694   IPI00921853   IPI00783062   IPI00441294   IPI00657882   IPI00937435   
Protein Interaction databases
DIP (DOE-UCLA)O75147
IntAct (EBI)O75147
FunCoupENSG00000124006
BioGRIDOBSL1
STRING (EMBL)OBSL1
ZODIACOBSL1
Ontologies - Pathways
QuickGOO75147
Ontology : AmiGOmicrotubule cytoskeleton organization  protein binding  cytoplasm  Golgi apparatus  centrosome  muscle myosin complex  striated muscle contraction  cytoskeleton organization  actin filament organization  Golgi organization  regulation of mitotic nuclear division  cytoskeletal adaptor activity  structural constituent of muscle  intercalated disc  Z disc  M band  protein localization to Golgi apparatus  sarcomere organization  perinuclear region of cytoplasm  perinuclear region of cytoplasm  positive regulation of dendrite morphogenesis  actin filament binding  muscle alpha-actinin binding  cardiac myofibril assembly  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  3M complex  
Ontology : EGO-EBImicrotubule cytoskeleton organization  protein binding  cytoplasm  Golgi apparatus  centrosome  muscle myosin complex  striated muscle contraction  cytoskeleton organization  actin filament organization  Golgi organization  regulation of mitotic nuclear division  cytoskeletal adaptor activity  structural constituent of muscle  intercalated disc  Z disc  M band  protein localization to Golgi apparatus  sarcomere organization  perinuclear region of cytoplasm  perinuclear region of cytoplasm  positive regulation of dendrite morphogenesis  actin filament binding  muscle alpha-actinin binding  cardiac myofibril assembly  striated muscle myosin thick filament assembly  structural molecule activity conferring elasticity  3M complex  
NDEx NetworkOBSL1
Atlas of Cancer Signalling NetworkOBSL1
Wikipedia pathwaysOBSL1
Orthology - Evolution
OrthoDB23363
GeneTree (enSembl)ENSG00000124006
Phylogenetic Trees/Animal Genes : TreeFamOBSL1
HOVERGENO75147
HOGENOMO75147
Homologs : HomoloGeneOBSL1
Homology/Alignments : Family Browser (UCSC)OBSL1
Gene fusions - Rearrangements
Tumor Fusion PortalOBSL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOBSL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OBSL1
dbVarOBSL1
ClinVarOBSL1
1000_GenomesOBSL1 
Exome Variant ServerOBSL1
ExAC (Exome Aggregation Consortium)ENSG00000124006
GNOMAD BrowserENSG00000124006
Genetic variants : HAPMAP23363
Genomic Variants (DGV)OBSL1 [DGVbeta]
DECIPHEROBSL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOBSL1 
Mutations
ICGC Data PortalOBSL1 
TCGA Data PortalOBSL1 
Broad Tumor PortalOBSL1
OASIS PortalOBSL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOBSL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOBSL1
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 OBSL1
DgiDB (Drug Gene Interaction Database)OBSL1
DoCM (Curated mutations)OBSL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OBSL1 (select a term)
intoGenOBSL1
Cancer3DOBSL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610991    612921   
Orphanet2393   
DisGeNETOBSL1
MedgenOBSL1
Genetic Testing Registry OBSL1
NextProtO75147 [Medical]
TSGene23363
GENETestsOBSL1
Target ValidationOBSL1
Huge Navigator OBSL1 [HugePedia]
snp3D : Map Gene to Disease23363
BioCentury BCIQOBSL1
ClinGenOBSL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23363
Chemical/Pharm GKB GenePA142671235
Clinical trialOBSL1
Miscellaneous
canSAR (ICR)OBSL1 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOBSL1
EVEXOBSL1
GoPubMedOBSL1
iHOPOBSL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:05:56 CET 2017

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