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NUMBL (NUMB like, endocytic adaptor protein)

Identity

Alias_namesnumb (Drosophila) homolog-like
Alias_symbol (synonym)NUMB-R
CTG3a
CAG3A
TNRC23
NUMBR
NUMBLIKE
Other aliasNBL
HGNC (Hugo) NUMBL
LocusID (NCBI) 9253
Atlas_Id 47456
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 40665906 and ends at 40690658 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)		ADCK4 (19q13.2) / NUMBL (19q13.2)NUMBL (19q13.2) / CBX6 (22q13.1)PRNP (20p13) / NUMBL (19q13.2)
PRR12 (19q13.33) / NUMBL (19q13.2)

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)NUMBL   8061
Cards
Entrez_Gene (NCBI)NUMBL  9253  NUMB like, endocytic adaptor protein
AliasesCAG3A; CTG3a; NBL; NUMB-R; 
NUMBLIKE; NUMBR; TNRC23
GeneCards (Weizmann)NUMBL
Ensembl hg19 (Hinxton)ENSG00000105245 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105245 [Gene_View]  chr19:40665906-40690658 [Contig_View]  NUMBL [Vega]
ICGC DataPortalENSG00000105245
TCGA cBioPortalNUMBL
AceView (NCBI)NUMBL
Genatlas (Paris)NUMBL
WikiGenes9253
SOURCE (Princeton)NUMBL
Genetics Home Reference (NIH)NUMBL
Genomic and cartography
GoldenPath hg38 (UCSC)NUMBL  -     chr19:40665906-40690658 -  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NUMBL  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblNUMBL - 19q13.2 [CytoView hg19]  NUMBL - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBINUMBL [Mapview hg19]  NUMBL [Mapview hg38]
OMIM604018   
Gene and transcription
Genbank (Entrez)AF015041 AI374943 AK289398 AK299484 BC001794
RefSeq transcript (Entrez)NM_001289979 NM_001289980 NM_004756
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NUMBL
Cluster EST : UnigeneHs.326953 [ NCBI ]
CGAP (NCI)Hs.326953
Alternative Splicing GalleryENSG00000105245
Gene ExpressionNUMBL [ NCBI-GEO ]   NUMBL [ EBI - ARRAY_EXPRESS ]   NUMBL [ SEEK ]   NUMBL [ MEM ]
Gene Expression Viewer (FireBrowse)NUMBL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9253
GTEX Portal (Tissue expression)NUMBL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6R0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6R0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6R0
Splice isoforms : SwissVarQ9Y6R0
PhosPhoSitePlusQ9Y6R0
Domaine pattern : Prosite (Expaxy)PID (PS01179)   
Domains : Interpro (EBI)Numb/numb-like    Numb_domain    PH_dom-like    PTB/PI_dom   
Domain families : Pfam (Sanger)NumbF (PF06311)    PID (PF00640)   
Domain families : Pfam (NCBI)pfam06311    pfam00640   
Domain families : Smart (EMBL)PTB (SM00462)  
Conserved Domain (NCBI)NUMBL
DMDM Disease mutations9253
Blocks (Seattle)NUMBL
PDB (SRS)3F0W   
PDB (PDBSum)3F0W   
PDB (IMB)3F0W   
PDB (RSDB)3F0W   
Structural Biology KnowledgeBase3F0W   
SCOP (Structural Classification of Proteins)3F0W   
CATH (Classification of proteins structures)3F0W   
SuperfamilyQ9Y6R0
Human Protein AtlasENSG00000105245
Peptide AtlasQ9Y6R0
HPRD04931
IPIIPI00002560   IPI01010315   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6R0
IntAct (EBI)Q9Y6R0
FunCoupENSG00000105245
BioGRIDNUMBL
STRING (EMBL)NUMBL
ZODIACNUMBL
Ontologies - Pathways
QuickGOQ9Y6R0
Ontology : AmiGOprotein binding  cytoplasm  nervous system development  axonogenesis  cytokine-mediated signaling pathway  protein metabolic process  lateral ventricle development  neuroblast division in subventricular zone  adherens junction organization  positive regulation of neurogenesis  
Ontology : EGO-EBIprotein binding  cytoplasm  nervous system development  axonogenesis  cytokine-mediated signaling pathway  protein metabolic process  lateral ventricle development  neuroblast division in subventricular zone  adherens junction organization  positive regulation of neurogenesis  
Pathways : KEGGNotch signaling pathway   
NDEx NetworkNUMBL
Atlas of Cancer Signalling NetworkNUMBL
Wikipedia pathwaysNUMBL
Orthology - Evolution
OrthoDB9253
GeneTree (enSembl)ENSG00000105245
Phylogenetic Trees/Animal Genes : TreeFamNUMBL
HOVERGENQ9Y6R0
HOGENOMQ9Y6R0
Homologs : HomoloGeneNUMBL
Homology/Alignments : Family Browser (UCSC)NUMBL
Gene fusions - Rearrangements
Fusion : MitelmanADCK4/NUMBL [19q13.2/19q13.2]  [t(19;19)(q13;q13)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNUMBL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NUMBL
dbVarNUMBL
ClinVarNUMBL
1000_GenomesNUMBL 
Exome Variant ServerNUMBL
ExAC (Exome Aggregation Consortium)NUMBL (select the gene name)
Genetic variants : HAPMAP9253
Genomic Variants (DGV)NUMBL [DGVbeta]
DECIPHERNUMBL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNUMBL 
Mutations
ICGC Data PortalNUMBL 
TCGA Data PortalNUMBL 
Broad Tumor PortalNUMBL
OASIS PortalNUMBL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNUMBL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNUMBL
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 NUMBL
DgiDB (Drug Gene Interaction Database)NUMBL
DoCM (Curated mutations)NUMBL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NUMBL (select a term)
intoGenNUMBL
Cancer3DNUMBL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604018   
Orphanet
MedgenNUMBL
Genetic Testing Registry NUMBL
NextProtQ9Y6R0 [Medical]
TSGene9253
GENETestsNUMBL
Target ValidationNUMBL
Huge Navigator NUMBL [HugePedia]
snp3D : Map Gene to Disease9253
BioCentury BCIQNUMBL
ClinGenNUMBL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9253
Chemical/Pharm GKB GenePA31846
Clinical trialNUMBL
Miscellaneous
canSAR (ICR)NUMBL (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNUMBL
EVEXNUMBL
GoPubMedNUMBL
iHOPNUMBL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:47:40 CEST 2017
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