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COBLL1 (cordon-bleu WH2 repeat protein like 1)

Identity

Alias_namesCOBL-like 1
cordon-bleu WH2 repeat protein-like 1
Alias_symbol (synonym)KIAA0977
Other aliasCOBLR1
HGNC (Hugo) COBLL1
LocusID (NCBI) 22837
Atlas_Id 52445
Location 2q24.3  [Link to chromosome band 2q24]
Location_base_pair Starts at 165536695 and ends at 165698678 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADAT2 (6q24.2) / COBLL1 (2q24.3)COBLL1 (2q24.3) / SCN3A (2q24.3)COBLL1 (2q24.3) / SLC38A11 (2q24.3)
COBLL1 (2q24.3) / SMAD4 (18q21.2)COBLL1 (2q24.3) / SMYD3 (1q44)LAMB4 (7q31.1) / COBLL1 (2q24.3)
COBLL1 2q24.3 / SCN3A 2q24.3COBLL1 2q24.3 / SLC38A11 2q24.3COBLL1 2q24.3 / SMYD3 1q44

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)COBLL1   23571
Cards
Entrez_Gene (NCBI)COBLL1  22837  cordon-bleu WH2 repeat protein like 1
AliasesCOBLR1
GeneCards (Weizmann)COBLL1
Ensembl hg19 (Hinxton)ENSG00000082438 [Gene_View]  chr2:165536695-165698678 [Contig_View]  COBLL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000082438 [Gene_View]  chr2:165536695-165698678 [Contig_View]  COBLL1 [Vega]
ICGC DataPortalENSG00000082438
TCGA cBioPortalCOBLL1
AceView (NCBI)COBLL1
Genatlas (Paris)COBLL1
WikiGenes22837
SOURCE (Princeton)COBLL1
Genetics Home Reference (NIH)COBLL1
Genomic and cartography
GoldenPath hg19 (UCSC)COBLL1  -     chr2:165536695-165698678 -  2q24.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COBLL1  -     2q24.3   [Description]    (hg38-Dec_2013)
EnsemblCOBLL1 - 2q24.3 [CytoView hg19]  COBLL1 - 2q24.3 [CytoView hg38]
Mapping of homologs : NCBICOBLL1 [Mapview hg19]  COBLL1 [Mapview hg38]
OMIM610318   
Gene and transcription
Genbank (Entrez)AB023194 AI261693 AK001813 AK002054 AK002057
RefSeq transcript (Entrez)NM_001278458 NM_001278460 NM_001278461 NM_014900
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929305
Consensus coding sequences : CCDS (NCBI)COBLL1
Cluster EST : UnigeneHs.744314 [ NCBI ]
CGAP (NCI)Hs.744314
Alternative Splicing GalleryENSG00000082438
Gene ExpressionCOBLL1 [ NCBI-GEO ]   COBLL1 [ EBI - ARRAY_EXPRESS ]   COBLL1 [ SEEK ]   COBLL1 [ MEM ]
Gene Expression Viewer (FireBrowse)COBLL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22837
GTEX Portal (Tissue expression)COBLL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ53SF7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ53SF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ53SF7
Splice isoforms : SwissVarQ53SF7
PhosPhoSitePlusQ53SF7
Domaine pattern : Prosite (Expaxy)WH2 (PS51082)   
Domains : Interpro (EBI)Cordon-bleu_ubiquitin_domain    WH2_dom   
Domain families : Pfam (Sanger)Cobl (PF09469)   
Domain families : Pfam (NCBI)pfam09469   
Conserved Domain (NCBI)COBLL1
DMDM Disease mutations22837
Blocks (Seattle)COBLL1
PDB (SRS)2DAJ   
PDB (PDBSum)2DAJ   
PDB (IMB)2DAJ   
PDB (RSDB)2DAJ   
Structural Biology KnowledgeBase2DAJ   
SCOP (Structural Classification of Proteins)2DAJ   
CATH (Classification of proteins structures)2DAJ   
SuperfamilyQ53SF7
Human Protein AtlasENSG00000082438
Peptide AtlasQ53SF7
HPRD10844
IPIIPI01011600   IPI00807728   IPI00007133   IPI00411553   IPI00807633   IPI00807339   IPI00788734   IPI00797879   IPI00917209   IPI00917376   IPI00917707   IPI00916729   IPI00916919   
Protein Interaction databases
DIP (DOE-UCLA)Q53SF7
IntAct (EBI)Q53SF7
FunCoupENSG00000082438
BioGRIDCOBLL1
STRING (EMBL)COBLL1
ZODIACCOBLL1
Ontologies - Pathways
QuickGOQ53SF7
Ontology : AmiGOactin monomer binding  actin filament polymerization  actin filament network formation  extracellular exosome  
Ontology : EGO-EBIactin monomer binding  actin filament polymerization  actin filament network formation  extracellular exosome  
NDEx NetworkCOBLL1
Atlas of Cancer Signalling NetworkCOBLL1
Wikipedia pathwaysCOBLL1
Orthology - Evolution
OrthoDB22837
GeneTree (enSembl)ENSG00000082438
Phylogenetic Trees/Animal Genes : TreeFamCOBLL1
HOVERGENQ53SF7
HOGENOMQ53SF7
Homologs : HomoloGeneCOBLL1
Homology/Alignments : Family Browser (UCSC)COBLL1
Gene fusions - Rearrangements
Fusion : MitelmanCOBLL1/SCN3A [2q24.3/2q24.3]  
Fusion : MitelmanCOBLL1/SLC38A11 [2q24.3/2q24.3]  [t(2;2)(q24;q24)]  
Fusion : MitelmanCOBLL1/SMYD3 [2q24.3/1q44]  [t(1;2)(q44;q24)]  
Fusion: TCGACOBLL1 2q24.3 SCN3A 2q24.3 LUSC
Fusion: TCGACOBLL1 2q24.3 SLC38A11 2q24.3 LUSC
Fusion: TCGACOBLL1 2q24.3 SMYD3 1q44 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOBLL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COBLL1
dbVarCOBLL1
ClinVarCOBLL1
1000_GenomesCOBLL1 
Exome Variant ServerCOBLL1
ExAC (Exome Aggregation Consortium)COBLL1 (select the gene name)
Genetic variants : HAPMAP22837
Genomic Variants (DGV)COBLL1 [DGVbeta]
DECIPHER (Syndromes)2:165536695-165698678  ENSG00000082438
CONAN: Copy Number AnalysisCOBLL1 
Mutations
ICGC Data PortalCOBLL1 
TCGA Data PortalCOBLL1 
Broad Tumor PortalCOBLL1
OASIS PortalCOBLL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOBLL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOBLL1
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 COBLL1
DgiDB (Drug Gene Interaction Database)COBLL1
DoCM (Curated mutations)COBLL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COBLL1 (select a term)
intoGenCOBLL1
Cancer3DCOBLL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610318   
Orphanet
MedgenCOBLL1
Genetic Testing Registry COBLL1
NextProtQ53SF7 [Medical]
TSGene22837
GENETestsCOBLL1
Huge Navigator COBLL1 [HugePedia]
snp3D : Map Gene to Disease22837
BioCentury BCIQCOBLL1
ClinGenCOBLL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22837
Chemical/Pharm GKB GenePA134990267
Clinical trialCOBLL1
Miscellaneous
canSAR (ICR)COBLL1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOBLL1
EVEXCOBLL1
GoPubMedCOBLL1
iHOPCOBLL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:01:10 CET 2017

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