Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AMBRA1 (autophagy and beclin 1 regulator 1)

Identity

Alias (NCBI)DCAF3
WDR94
HGNC (Hugo) AMBRA1
HGNC Alias symbFLJ20294
KIAA1736
WDR94
DCAF3
HGNC Alias nameWD repeat domain 94
 DDB1 and CUL4 associated factor 3
HGNC Previous nameautophagy/beclin-1 regulator 1
LocusID (NCBI) 55626
Atlas_Id 53689
Location 11p11.2  [Link to chromosome band 11p11]
Location_base_pair Starts at 46396412 and ends at 46591364 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)
ABLIM1 (10q25.3) / AMBRA1 (11p11.2)ACSS2 (20q11.22) / AMBRA1 (11p11.2)AMBRA1 (11p11.2) / ARHGAP1 (11p11.2)
AMBRA1 (11p11.2) / CCDC61 (19q13.32)AMBRA1 (11p11.2) / EVL (14q32.2)AMBRA1 (11p11.2) / HARBI1 (11p11.2)
AMBRA1 (11p11.2) / ZFHX4 (8q21.11)ATG13 (11p11.2) / AMBRA1 (11p11.2)PHF21A (11p11.2) / AMBRA1 (11p11.2)
WDPCP (2p15) / AMBRA1 (11p11.2)ZFHX4 (8q21.11) / AMBRA1 (11p11.2)AMBRA1 11p11.2 / ARHGAP1 11p11.2
AMBRA1 11p11.2 / CCDC61 19q13.32AMBRA1 11p11.2 / HARBI1 11p11.2ATG13 11p11.2 / AMBRA1 11p11.2
PHF21A 11p11.2 / AMBRA1 11p11.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  AMBRA1/ARHGAP1 (11p11)
AMBRA1/HARBI1 (11p11)
AMBRA1/LRP4 (11p11)
ATG13/AMBRA1 (11p11)
PHF21A/AMBRA1 (11p11)
t(11;19)(p11;q13) AMBRA1/CCDC61

External links

Nomenclature
HGNC (Hugo)AMBRA1   25990
Cards
Entrez_Gene (NCBI)AMBRA1    autophagy and beclin 1 regulator 1
AliasesDCAF3; WDR94
GeneCards (Weizmann)AMBRA1
Ensembl hg19 (Hinxton)ENSG00000110497 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000110497 [Gene_View]  ENSG00000110497 [Sequence]  chr11:46396412-46591364 [Contig_View]  AMBRA1 [Vega]
ICGC DataPortalENSG00000110497
TCGA cBioPortalAMBRA1
AceView (NCBI)AMBRA1
Genatlas (Paris)AMBRA1
SOURCE (Princeton)AMBRA1
Genetics Home Reference (NIH)AMBRA1
Genomic and cartography
GoldenPath hg38 (UCSC)AMBRA1  -     chr11:46396412-46591364 -  11p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AMBRA1  -     11p11.2   [Description]    (hg19-Feb_2009)
GoldenPathAMBRA1 - 11p11.2 [CytoView hg19]  AMBRA1 - 11p11.2 [CytoView hg38]
ImmunoBaseENSG00000110497
genome Data Viewer NCBIAMBRA1 [Mapview hg19]  
OMIM611359   
Gene and transcription
Genbank (Entrez)AB051523 AK000301 AK023197 AK057896 AK302808
RefSeq transcript (Entrez)NM_001267782 NM_001267783 NM_001300731 NM_001367468 NM_001367469 NM_001367470 NM_001367471 NM_017749
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AMBRA1
Alternative Splicing GalleryENSG00000110497
Gene ExpressionAMBRA1 [ NCBI-GEO ]   AMBRA1 [ EBI - ARRAY_EXPRESS ]   AMBRA1 [ SEEK ]   AMBRA1 [ MEM ]
Gene Expression Viewer (FireBrowse)AMBRA1 [ Firebrowse - Broad ]
GenevisibleExpression of AMBRA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55626
GTEX Portal (Tissue expression)AMBRA1
Human Protein AtlasENSG00000110497-AMBRA1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C0C7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C0C7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C0C7
Splice isoforms : SwissVarQ9C0C7
PhosPhoSitePlusQ9C0C7
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)AMBRA1
Blocks (Seattle)AMBRA1
SuperfamilyQ9C0C7
Human Protein Atlas [tissue]ENSG00000110497-AMBRA1 [tissue]
Peptide AtlasQ9C0C7
HPRD10975
IPIIPI00877906   IPI00106552   IPI00855865   IPI00398257   IPI00177605   IPI00909655   IPI00976983   IPI00975655   
Protein Interaction databases
DIP (DOE-UCLA)Q9C0C7
IntAct (EBI)Q9C0C7
BioGRIDAMBRA1
STRING (EMBL)AMBRA1
ZODIACAMBRA1
Ontologies - Pathways
QuickGOQ9C0C7
Ontology : AmiGOautophagosome assembly  autophagy of mitochondrion  mitophagy  mitophagy  protein binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  autophagosome  cytosol  cytosol  axoneme  autophagy  negative regulation of cell proliferation  cellular response to starvation  positive regulation of autophagy  negative regulation of cardiac muscle cell apoptotic process  macroautophagy  neural tube development  cell differentiation  ubiquitin protein ligase binding  intracellular membrane-bounded organelle  negative regulation of neuron apoptotic process  positive regulation of phosphatidylinositol 3-kinase activity  phagocytic vesicle  perinuclear region of cytoplasm  GTPase binding  response to mitochondrial depolarisation  response to mitochondrial depolarisation  
Ontology : EGO-EBIautophagosome assembly  autophagy of mitochondrion  mitophagy  mitophagy  protein binding  cytoplasm  mitochondrion  mitochondrion  mitochondrial outer membrane  autophagosome  cytosol  cytosol  axoneme  autophagy  negative regulation of cell proliferation  cellular response to starvation  positive regulation of autophagy  negative regulation of cardiac muscle cell apoptotic process  macroautophagy  neural tube development  cell differentiation  ubiquitin protein ligase binding  intracellular membrane-bounded organelle  negative regulation of neuron apoptotic process  positive regulation of phosphatidylinositol 3-kinase activity  phagocytic vesicle  perinuclear region of cytoplasm  GTPase binding  response to mitochondrial depolarisation  response to mitochondrial depolarisation  
NDEx NetworkAMBRA1
Atlas of Cancer Signalling NetworkAMBRA1
Wikipedia pathwaysAMBRA1
Orthology - Evolution
OrthoDB55626
GeneTree (enSembl)ENSG00000110497
Phylogenetic Trees/Animal Genes : TreeFamAMBRA1
HOGENOMQ9C0C7
Homologs : HomoloGeneAMBRA1
Homology/Alignments : Family Browser (UCSC)AMBRA1
Gene fusions - Rearrangements
Fusion : MitelmanAMBRA1/ARHGAP1 [11p11.2/11p11.2]  
Fusion : MitelmanAMBRA1/CCDC61 [11p11.2/19q13.32]  
Fusion : MitelmanAMBRA1/HARBI1 [11p11.2/11p11.2]  
Fusion : MitelmanATG13/AMBRA1 [11p11.2/11p11.2]  
Fusion : MitelmanPHF21A/AMBRA1 [11p11.2/11p11.2]  
Fusion PortalAMBRA1 11p11.2 ARHGAP1 11p11.2 LUAD
Fusion PortalAMBRA1 11p11.2 CCDC61 19q13.32 LGG
Fusion PortalAMBRA1 11p11.2 HARBI1 11p11.2 BRCA OV
Fusion PortalATG13 11p11.2 AMBRA1 11p11.2 LUSC
Fusion PortalPHF21A 11p11.2 AMBRA1 11p11.2 LUAD
Fusion : QuiverAMBRA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAMBRA1 [hg38]
dbVarAMBRA1
ClinVarAMBRA1
MonarchAMBRA1
1000_GenomesAMBRA1 
Exome Variant ServerAMBRA1
GNOMAD BrowserENSG00000110497
Varsome BrowserAMBRA1
Genomic Variants (DGV)AMBRA1 [DGVbeta]
DECIPHERAMBRA1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAMBRA1 
Mutations
ICGC Data PortalAMBRA1 
TCGA Data PortalAMBRA1 
Broad Tumor PortalAMBRA1
OASIS PortalAMBRA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAMBRA1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAMBRA1
Mutations and Diseases : HGMDAMBRA1
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 AMBRA1
DgiDB (Drug Gene Interaction Database)AMBRA1
DoCM (Curated mutations)AMBRA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AMBRA1 (select a term)
intoGenAMBRA1
Cancer3DAMBRA1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611359   
Orphanet
DisGeNETAMBRA1
MedgenAMBRA1
Genetic Testing Registry AMBRA1
NextProtQ9C0C7 [Medical]
GENETestsAMBRA1
Target ValidationAMBRA1
Huge Navigator AMBRA1 [HugePedia]
ClinGenAMBRA1
Clinical trials, drugs, therapy
MyCancerGenomeAMBRA1
Protein Interactions : CTD
Pharm GKB GenePA162376307
PharosQ9C0C7
Clinical trialAMBRA1
Miscellaneous
canSAR (ICR)AMBRA1 (select the gene name)
HarmonizomeAMBRA1
DataMed IndexAMBRA1
Probes
Litterature
PubMed69 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAMBRA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:05:15 CET 2021
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