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ABR (active BCR-related)

Identity

Alias_namesactive BCR-related gene
Alias_symbol (synonym)MDB
Other alias
HGNC (Hugo) ABR
LocusID (NCBI) 29
Atlas_Id 549
Location 17p13.3  [Link to chromosome band 17p13]
Location_base_pair Starts at 1003518 and ends at 1109100 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)
A2M (12p13.31) / ABR (17p13.3)AARS (16q22.1) / ABR (17p13.3)ABR (17p13.3) / ABR (17p13.3)
ABR (17p13.3) / CLUH (17p13.3)ABR (17p13.3) / CRK (17p13.3)ABR (17p13.3) / FMNL1 (17q21.31)
ABR (17p13.3) / GAS7 (17p13.1)ABR (17p13.3) / GLOD4 (17p13.3)ABR (17p13.3) / MAN2B1 (19p13.2)
ABR (17p13.3) / NXN (17p13.3)ABR (17p13.3) / PITPNA (17p13.3)ABR (17p13.3) / TPRN (9q34.3)
ABR (17p13.3) / YWHAE (17p13.3)EWSR1 (22q12.2) / ABR (17p13.3)MAST4 (5q12.3) / ABR (17p13.3)
MTMR4 (17q22) / ABR (17p13.3)NXN (17p13.3) / ABR (17p13.3)ABR 17p13.3 / CRK 17p13.3
ABR 17p13.3 / GAS7 17p13.1ABR 17p13.3 KIAA0664ABR 17p13.3 / MAN2B1 19p13.2
ABR 17p13.3 / PITPNA 17p13.3ABR 17p13.3 / YWHAE 17p13.3EWSR1 22q12.2 / ABR 17p13.3
NXN 17p13.3 / ABR 17p13.3

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)ABR   81
Cards
Entrez_Gene (NCBI)ABR  29  active BCR-related
AliasesMDB
GeneCards (Weizmann)ABR
Ensembl hg19 (Hinxton)ENSG00000159842 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159842 [Gene_View]  chr17:1003518-1109100 [Contig_View]  ABR [Vega]
ICGC DataPortalENSG00000159842
TCGA cBioPortalABR
AceView (NCBI)ABR
Genatlas (Paris)ABR
WikiGenes29
SOURCE (Princeton)ABR
Genetics Home Reference (NIH)ABR
Genomic and cartography
GoldenPath hg38 (UCSC)ABR  -     chr17:1003518-1109100 -  17p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABR  -     17p13.3   [Description]    (hg19-Feb_2009)
EnsemblABR - 17p13.3 [CytoView hg19]  ABR - 17p13.3 [CytoView hg38]
Mapping of homologs : NCBIABR [Mapview hg19]  ABR [Mapview hg38]
OMIM600365   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001092 NM_001159746 NM_001256847 NM_001282149 NM_001322840 NM_001322841 NM_001322842 NM_021962
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_011987 NT_187613 NT_187664
Consensus coding sequences : CCDS (NCBI)ABR
Cluster EST : UnigeneHs.677395 [ NCBI ]
CGAP (NCI)Hs.677395
Alternative Splicing GalleryENSG00000159842
Gene ExpressionABR [ NCBI-GEO ]   ABR [ EBI - ARRAY_EXPRESS ]   ABR [ SEEK ]   ABR [ MEM ]
Gene Expression Viewer (FireBrowse)ABR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)29
GTEX Portal (Tissue expression)ABR
Human Protein AtlasENSG00000159842-ABR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12979   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12979  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12979
Splice isoforms : SwissVarQ12979
PhosPhoSitePlusQ12979
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    DH_1 (PS00741)    DH_2 (PS50010)    PH_DOMAIN (PS50003)    RHOGAP (PS50238)   
Domains : Interpro (EBI)C2_dom    DH-domain    GDS_CDC24_CS    PH_dom-like    PH_domain    Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)C2 (PF00168)    PH (PF00169)    RhoGAP (PF00620)    RhoGEF (PF00621)   
Domain families : Pfam (NCBI)pfam00168    pfam00169    pfam00620    pfam00621   
Domain families : Smart (EMBL)C2 (SM00239)  PH (SM00233)  RhoGAP (SM00324)  RhoGEF (SM00325)  
Conserved Domain (NCBI)ABR
DMDM Disease mutations29
Blocks (Seattle)ABR
SuperfamilyQ12979
Human Protein Atlas [tissue]ENSG00000159842-ABR [tissue]
Peptide AtlasQ12979
HPRD02649
IPIIPI00030389   IPI00298955   IPI01015645   IPI00872392   IPI00922743   IPI00930680   
Protein Interaction databases
DIP (DOE-UCLA)Q12979
IntAct (EBI)Q12979
FunCoupENSG00000159842
BioGRIDABR
STRING (EMBL)ABR
ZODIACABR
Ontologies - Pathways
QuickGOQ12979
Ontology : AmiGOnegative regulation of cellular extravasation  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  GTPase activator activity  cytosol  plasma membrane  small GTPase mediated signal transduction  brain development  membrane  membrane  actin cytoskeleton organization  response to lipopolysaccharide  regulation of Rho protein signal transduction  inner ear morphogenesis  positive regulation of apoptotic process  regulation of vascular permeability  negative regulation of neutrophil degranulation  positive regulation of GTPase activity  negative regulation of inflammatory response  positive regulation of phagocytosis  neuromuscular process controlling balance  regulation of small GTPase mediated signal transduction  negative regulation of blood vessel remodeling  
Ontology : EGO-EBInegative regulation of cellular extravasation  guanyl-nucleotide exchange factor activity  Rho guanyl-nucleotide exchange factor activity  GTPase activator activity  GTPase activator activity  cytosol  plasma membrane  small GTPase mediated signal transduction  brain development  membrane  membrane  actin cytoskeleton organization  response to lipopolysaccharide  regulation of Rho protein signal transduction  inner ear morphogenesis  positive regulation of apoptotic process  regulation of vascular permeability  negative regulation of neutrophil degranulation  positive regulation of GTPase activity  negative regulation of inflammatory response  positive regulation of phagocytosis  neuromuscular process controlling balance  regulation of small GTPase mediated signal transduction  negative regulation of blood vessel remodeling  
NDEx NetworkABR
Atlas of Cancer Signalling NetworkABR
Wikipedia pathwaysABR
Orthology - Evolution
OrthoDB29
GeneTree (enSembl)ENSG00000159842
Phylogenetic Trees/Animal Genes : TreeFamABR
HOVERGENQ12979
HOGENOMQ12979
Homologs : HomoloGeneABR
Homology/Alignments : Family Browser (UCSC)ABR
Gene fusions - Rearrangements
Fusion : MitelmanABR/CLUH [17p13.3/17p13.3]  
Fusion : MitelmanABR/CRK [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion : MitelmanABR/GAS7 [17p13.3/17p13.1]  [t(17;17)(p13;p13)]  
Fusion : MitelmanABR/MAN2B1 [17p13.3/19p13.2]  [t(17;19)(p13;p13)]  
Fusion : MitelmanABR/PITPNA [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion : MitelmanABR/YWHAE [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion : MitelmanEWSR1/ABR [22q12.2/17p13.3]  [t(17;22)(p13;q12)]  
Fusion : MitelmanNXN/ABR [17p13.3/17p13.3]  [t(17;17)(p13;p13)]  
Fusion: TCGAABR 17p13.3 CRK 17p13.3 LUAD
Fusion: TCGAABR 17p13.3 GAS7 17p13.1 LUSC
Fusion: TCGAABR 17p13.3 KIAA0664 BRCA
Fusion: TCGAABR 17p13.3 MAN2B1 19p13.2 LGG
Fusion: TCGAABR 17p13.3 PITPNA 17p13.3 BRCA
Fusion: TCGAABR 17p13.3 YWHAE 17p13.3 LGG
Fusion: TCGAEWSR1 22q12.2 ABR 17p13.3 HNSC
Fusion: TCGANXN 17p13.3 ABR 17p13.3 LUAD
Fusion: Tumor Portal ABR
Fusion Cancer (Beijing)A2M [12p13.31]  -  ABR [17p13.3]  [FUSC002083]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABR
dbVarABR
ClinVarABR
1000_GenomesABR 
Exome Variant ServerABR
ExAC (Exome Aggregation Consortium)ENSG00000159842
GNOMAD BrowserENSG00000159842
Genetic variants : HAPMAP29
Genomic Variants (DGV)ABR [DGVbeta]
DECIPHERABR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABR 
Mutations
ICGC Data PortalABR 
TCGA Data PortalABR 
Broad Tumor PortalABR
OASIS PortalABR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABR
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 ABR
DgiDB (Drug Gene Interaction Database)ABR
DoCM (Curated mutations)ABR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABR (select a term)
intoGenABR
Cancer3DABR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600365   
Orphanet
MedgenABR
Genetic Testing Registry ABR
NextProtQ12979 [Medical]
TSGene29
GENETestsABR
Target ValidationABR
Huge Navigator ABR [HugePedia]
snp3D : Map Gene to Disease29
BioCentury BCIQABR
ClinGenABR (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29
Chemical/Pharm GKB GenePA24417
Clinical trialABR
Miscellaneous
canSAR (ICR)ABR (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABR
EVEXABR
GoPubMedABR
iHOPABR
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 : Thu Nov 9 12:38:49 CET 2017

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