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CBLL1 (Cbl proto-oncogene like 1)

Identity

Alias_namesCas-Br-M (murine) ecotropic retroviral transforming sequence-like 1
Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase
Cbl proto-oncogene like 1, E3 ubiquitin protein ligase
Alias_symbol (synonym)HAKAI
FLJ23109
RNF188
Other alias
HGNC (Hugo) CBLL1
LocusID (NCBI) 79872
Atlas_Id 935
Location 7q22.3  [Link to chromosome band 7q22]
Location_base_pair Starts at 107743697 and ends at 107761667 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)
CBLL1 (7q22.3) / SLC26A4 (7q22.3)COG5 (7q22.3) / CBLL1 (7q22.3)CBLL1 7q22.3 / SLC26A4 7q22.3
COG5 7q22.3 / CBLL1 7q22.3

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

 


External links

Nomenclature
HGNC (Hugo)CBLL1   21225
Cards
Entrez_Gene (NCBI)CBLL1  79872  Cbl proto-oncogene like 1
AliasesHAKAI; RNF188
GeneCards (Weizmann)CBLL1
Ensembl hg19 (Hinxton)ENSG00000105879 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105879 [Gene_View]  chr7:107743697-107761667 [Contig_View]  CBLL1 [Vega]
ICGC DataPortalENSG00000105879
TCGA cBioPortalCBLL1
AceView (NCBI)CBLL1
Genatlas (Paris)CBLL1
WikiGenes79872
SOURCE (Princeton)CBLL1
Genetics Home Reference (NIH)CBLL1
Genomic and cartography
GoldenPath hg38 (UCSC)CBLL1  -     chr7:107743697-107761667 +  7q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CBLL1  -     7q22.3   [Description]    (hg19-Feb_2009)
EnsemblCBLL1 - 7q22.3 [CytoView hg19]  CBLL1 - 7q22.3 [CytoView hg38]
Mapping of homologs : NCBICBLL1 [Mapview hg19]  CBLL1 [Mapview hg38]
OMIM606872   
Gene and transcription
Genbank (Entrez)AI055864 AK026762 AK293352 AK307992 BC027460
RefSeq transcript (Entrez)NM_001284291 NM_024814
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CBLL1
Cluster EST : UnigeneHs.592271 [ NCBI ]
CGAP (NCI)Hs.592271
Alternative Splicing GalleryENSG00000105879
Gene ExpressionCBLL1 [ NCBI-GEO ]   CBLL1 [ EBI - ARRAY_EXPRESS ]   CBLL1 [ SEEK ]   CBLL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CBLL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79872
GTEX Portal (Tissue expression)CBLL1
Human Protein AtlasENSG00000105879-CBLL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ75N03   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ75N03  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ75N03
Splice isoforms : SwissVarQ75N03
Catalytic activity : Enzyme2.3.2.27 [ Enzyme-Expasy ]   2.3.2.272.3.2.27 [ IntEnz-EBI ]   2.3.2.27 [ BRENDA ]   2.3.2.27 [ KEGG ]   
PhosPhoSitePlusQ75N03
Domaine pattern : Prosite (Expaxy)ZF_RING_1 (PS00518)    ZF_RING_2 (PS50089)   
Domains : Interpro (EBI)Znf_C2H2/integrase_DNA-bd    Znf_RING    Znf_RING/FYVE/PHD    Znf_RING_CS   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CBLL1
DMDM Disease mutations79872
Blocks (Seattle)CBLL1
SuperfamilyQ75N03
Human Protein Atlas [tissue]ENSG00000105879-CBLL1 [tissue]
Peptide AtlasQ75N03
HPRD07590
IPIIPI00290429   IPI00925925   IPI00927457   IPI00926800   IPI00927532   IPI00927719   
Protein Interaction databases
DIP (DOE-UCLA)Q75N03
IntAct (EBI)Q75N03
FunCoupENSG00000105879
BioGRIDCBLL1
STRING (EMBL)CBLL1
ZODIACCBLL1
Ontologies - Pathways
QuickGOQ75N03
Ontology : AmiGOubiquitin ligase complex  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytosol  negative regulation of cell adhesion  zinc ion binding  single organismal cell-cell adhesion  protein ubiquitination  protein ubiquitination  nuclear speck  regulation of cell adhesion  positive regulation of cell migration  entry of bacterium into host cell  identical protein binding  positive regulation of endocytosis  ubiquitin protein ligase activity  
Ontology : EGO-EBIubiquitin ligase complex  ubiquitin-protein transferase activity  ubiquitin-protein transferase activity  protein binding  cytosol  negative regulation of cell adhesion  zinc ion binding  single organismal cell-cell adhesion  protein ubiquitination  protein ubiquitination  nuclear speck  regulation of cell adhesion  positive regulation of cell migration  entry of bacterium into host cell  identical protein binding  positive regulation of endocytosis  ubiquitin protein ligase activity  
NDEx NetworkCBLL1
Atlas of Cancer Signalling NetworkCBLL1
Wikipedia pathwaysCBLL1
Orthology - Evolution
OrthoDB79872
GeneTree (enSembl)ENSG00000105879
Phylogenetic Trees/Animal Genes : TreeFamCBLL1
HOVERGENQ75N03
HOGENOMQ75N03
Homologs : HomoloGeneCBLL1
Homology/Alignments : Family Browser (UCSC)CBLL1
Gene fusions - Rearrangements
Fusion : MitelmanCBLL1/SLC26A4 [7q22.3/7q22.3]  
Fusion : MitelmanCOG5/CBLL1 [7q22.3/7q22.3]  [t(7;7)(q22;q31)]  
Fusion: TCGA_MDACCCBLL1 7q22.3 SLC26A4 7q22.3 LUAD
Fusion: TCGA_MDACCCOG5 7q22.3 CBLL1 7q22.3 LUAD
Tumor Fusion PortalCBLL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCBLL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CBLL1
dbVarCBLL1
ClinVarCBLL1
1000_GenomesCBLL1 
Exome Variant ServerCBLL1
ExAC (Exome Aggregation Consortium)ENSG00000105879
GNOMAD BrowserENSG00000105879
Genetic variants : HAPMAP79872
Genomic Variants (DGV)CBLL1 [DGVbeta]
DECIPHERCBLL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCBLL1 
Mutations
ICGC Data PortalCBLL1 
TCGA Data PortalCBLL1 
Broad Tumor PortalCBLL1
OASIS PortalCBLL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCBLL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCBLL1
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 CBLL1
DgiDB (Drug Gene Interaction Database)CBLL1
DoCM (Curated mutations)CBLL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CBLL1 (select a term)
intoGenCBLL1
Cancer3DCBLL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606872   
Orphanet
DisGeNETCBLL1
MedgenCBLL1
Genetic Testing Registry CBLL1
NextProtQ75N03 [Medical]
TSGene79872
GENETestsCBLL1
Target ValidationCBLL1
Huge Navigator CBLL1 [HugePedia]
snp3D : Map Gene to Disease79872
BioCentury BCIQCBLL1
ClinGenCBLL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79872
Chemical/Pharm GKB GenePA134960329
Clinical trialCBLL1
Miscellaneous
canSAR (ICR)CBLL1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCBLL1
EVEXCBLL1
GoPubMedCBLL1
iHOPCBLL1
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 14:06:08 CET 2017

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