Atlas of Genetics and Cytogenetics in Oncology and Haematology


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APP (amyloid beta precursor protein)

Identity

Alias_namesAD1
Alzheimer disease
amyloid beta (A4) precursor protein
Other aliasAAA
ABETA
ABPP
APPI
CTFgamma
CVAP
PN-II
PN2
preA4
HGNC (Hugo) APP
LocusID (NCBI) 351
Atlas_Id 45541
Location 21q21.3  [Link to chromosome band 21q21]
Location_base_pair Starts at 25880550 and ends at 26170820 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)
ALB (4q13.3) / APP (21q21.3)APP (21q21.3) / APP (21q21.3)APP (21q21.3) / CCDC91 (12p11.22)
APP (21q21.3) / CYYR1 (21q21.3)APP (21q21.3) / EEA1 (12q22)APP (21q21.3) / FLOT1 (6p21.33)
APP (21q21.3) / MALAT1 (11q13.1)APP (21q21.3) / PDLIM3 (4q35.1)APP (21q21.3) / RAB11FIP1 (8p11.23)
APP (21q21.3) / RCAN1 (21q22.12)APP (21q21.3) / SEC63 (6q21)ATP5J (21q21.3) / APP (21q21.3)
CDYL (6p25.1) / APP (21q21.3)CLCN4 (Xp22.2) / APP (21q21.3)DAG1 (3p21.31) / APP (21q21.3)
ENO1 (1p36.23) / APP (21q21.3)HSP90B1 (12q23.3) / APP (21q21.3)SH3BGRL3 (1p36.11) / APP (21q21.3)
APP 21q21.3 / EEA1 12q22APP 21q21.3 / RCAN1 21q22.12APP 21q21.3 / SEC63 6q21

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) [ 3 ]
  t(6;21)(q21;q21) APP/SEC63
t(12;21)(q22;q21) APP/EEA1
t(21;21)(q21;q22) APP/RCAN1


External links

Nomenclature
HGNC (Hugo)APP   620
Cards
Entrez_Gene (NCBI)APP  351  amyloid beta precursor protein
AliasesAAA; ABETA; ABPP; AD1; 
APPI; CTFgamma; CVAP; PN-II; PN2; preA4
GeneCards (Weizmann)APP
Ensembl hg19 (Hinxton)ENSG00000142192 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142192 [Gene_View]  ENSG00000142192 [Sequence]  chr21:25880550-26170820 [Contig_View]  APP [Vega]
ICGC DataPortalENSG00000142192
TCGA cBioPortalAPP
AceView (NCBI)APP
Genatlas (Paris)APP
WikiGenes351
SOURCE (Princeton)APP
Genetics Home Reference (NIH)APP
Genomic and cartography
GoldenPath hg38 (UCSC)APP  -     chr21:25880550-26170820 -  21q21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APP  -     21q21.3   [Description]    (hg19-Feb_2009)
EnsemblAPP - 21q21.3 [CytoView hg19]  APP - 21q21.3 [CytoView hg38]
Mapping of homologs : NCBIAPP [Mapview hg19]  APP [Mapview hg38]
OMIM104300   104760   605714   
Gene and transcription
Genbank (Entrez)A02759 AB066441 AF282245 AK294534 AK295373
RefSeq transcript (Entrez)NM_000484 NM_001136016 NM_001136129 NM_001136130 NM_001136131 NM_001204301 NM_001204302 NM_001204303 NM_201413 NM_201414
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APP
Cluster EST : UnigeneHs.434980 [ NCBI ]
CGAP (NCI)Hs.434980
Alternative Splicing GalleryENSG00000142192
Gene ExpressionAPP [ NCBI-GEO ]   APP [ EBI - ARRAY_EXPRESS ]   APP [ SEEK ]   APP [ MEM ]
Gene Expression Viewer (FireBrowse)APP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)351
GTEX Portal (Tissue expression)APP
Human Protein AtlasENSG00000142192-APP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05067   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05067  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05067
Splice isoforms : SwissVarP05067
PhosPhoSitePlusP05067
Domaine pattern : Prosite (Expaxy)A4_EXTRA (PS00319)    A4_INTRA (PS00320)    BPTI_KUNITZ_1 (PS00280)    BPTI_KUNITZ_2 (PS50279)   
Domains : Interpro (EBI)Amyloid_glyco    Amyloid_glyco_Abeta    Amyloid_glyco_Cu-bd    Amyloid_glyco_E2_domain    Amyloid_glyco_extra    Amyloid_glyco_extracell_CS    Amyloid_glyco_heparin-bd    Amyloid_glyco_intracell_CS    APP    APP_amyloid_C    Kunitz_BPTI    Prtase_inh_Kunz-CS   
Domain families : Pfam (Sanger)APP_amyloid (PF10515)    APP_Cu_bd (PF12924)    APP_E2 (PF12925)    APP_N (PF02177)    Beta-APP (PF03494)    Kunitz_BPTI (PF00014)   
Domain families : Pfam (NCBI)pfam10515    pfam12924    pfam12925    pfam02177    pfam03494    pfam00014   
Domain families : Smart (EMBL)A4_EXTRA (SM00006)  KU (SM00131)  
Conserved Domain (NCBI)APP
DMDM Disease mutations351
Blocks (Seattle)APP
PDB (SRS)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
PDB (PDBSum)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
PDB (IMB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
PDB (RSDB)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
Structural Biology KnowledgeBase1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
SCOP (Structural Classification of Proteins)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
CATH (Classification of proteins structures)1AAP    1AMB    1AMC    1AML    1BA4    1BA6    1BJB    1BJC    1BRC    1CA0    1HZ3    1IYT    1MWP    1OWT    1QCM    1QWP    1QXC    1QYT    1TAW    1TKN    1UO7    1UO8    1UOA    1UOI    1X11    1Z0Q    1ZE7    1ZE9    1ZJD    2BEG    2BOM    2BP4    2FJZ    2FK1    2FK2    2FK3    2FKL    2FMA    2G47    2IPU    2LFM    2LLM    2LMN    2LMO    2LMP    2LMQ    2LNQ    2LOH    2LP1    2LZ3    2LZ4    2M4J    2M9R    2M9S    2MGT    2MJ1    2MPZ    2MVX    2MXU    2NAO    2OTK    2R0W    2WK3    2Y29    2Y2A    2Y3J    2Y3K    2Y3L    3AYU    3BAE    3BKJ    3DXC    3DXD    3DXE    3GCI    3IFL    3IFN    3IFO    3IFP    3JQ5    3JQL    3JTI    3KTM    3L33    3L81    3MOQ    3MXC    3MXY    3NYJ    3NYL    3OVJ    3OW9    3SV1    3U0T    3UMH    3UMI    3UMK    4HIX    4JFN    4M1C    4MDR    4MVI    4MVK    4MVL    4NGE    4OJF    4ONF    4ONG    4PQD    4PWQ    4XXD    5AEF    5AM8    5AMB    5BUO    5C67    5CSZ    5HOW    5HOX    5HOY    5KK3   
SuperfamilyP05067
Human Protein Atlas [tissue]ENSG00000142192-APP [tissue]
Peptide AtlasP05067
HPRD00100
IPIIPI00006608   IPI00394658   IPI00219182   IPI00219183   IPI00412568   IPI00219185   IPI00219186   IPI00219187   IPI00412924   IPI00412681   IPI01014704   IPI00982225   IPI00981582   IPI00914602   
Protein Interaction databases
DIP (DOE-UCLA)P05067
IntAct (EBI)P05067
FunCoupENSG00000142192
BioGRIDAPP
STRING (EMBL)APP
ZODIACAPP
Ontologies - Pathways
QuickGOP05067
Ontology : AmiGOpositive regulation of protein phosphorylation  positive regulation of protein phosphorylation  suckling behavior  astrocyte activation involved in immune response  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  endosome  endoplasmic reticulum lumen  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  Golgi apparatus  Golgi lumen  cytosol  plasma membrane  integral component of plasma membrane  clathrin-coated pit  cell-cell junction  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  endocytosis  response to oxidative stress  cell adhesion  regulation of epidermal growth factor-activated receptor activity  G-protein coupled receptor signaling pathway  Notch signaling pathway  axonogenesis  learning or memory  learning or memory  learning or memory  learning  mating behavior  locomotory behavior  axo-dendritic transport  heparin binding  cholesterol metabolic process  negative regulation of cell proliferation  adult locomotory behavior  visual learning  cell surface  cellular process  response to lead ion  regulation of gene expression  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  positive regulation of peptidyl-threonine phosphorylation  negative regulation of endopeptidase activity  positive regulation of peptidase activity  positive regulation of G2/M transition of mitotic cell cycle  microglia development  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  enzyme binding  regulation of Wnt signaling pathway  COPII-coated ER to Golgi transport vesicle  extracellular matrix organization  extracellular matrix organization  axon  forebrain development  platelet alpha granule lumen  neuron projection development  neuromuscular junction  endosome lumen  positive regulation of protein binding  trans-Golgi network membrane  tumor necrosis factor production  positive regulation of peptidyl-serine phosphorylation  ionotropic glutamate receptor signaling pathway  ciliary rootlet  regulation of multicellular organism growth  positive regulation of phosphorylation  positive regulation of NF-kappaB import into nucleus  identical protein binding  terminal bouton  dendritic spine  dendritic shaft  receptor complex  post-translational protein modification  cellular protein metabolic process  main axon  innate immune response  membrane raft  apical part of cell  synapse  negative regulation of neuron differentiation  positive regulation of mitotic cell cycle  positive regulation of transcription by RNA polymerase II  positive regulation of JNK cascade  transition metal ion binding  astrocyte activation  regulation of long-term neuronal synaptic plasticity  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of peptidyl-tyrosine phosphorylation  regulation of synapse structure or activity  synapse organization  neuromuscular process controlling balance  positive regulation of DNA binding transcription factor activity  positive regulation of NF-kappaB transcription factor activity  synaptic growth at neuromuscular junction  spindle midzone  positive regulation of protein metabolic process  positive regulation of protein metabolic process  neuron apoptotic process  PTB domain binding  smooth endoplasmic reticulum calcium ion homeostasis  positive regulation of astrocyte activation  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  growth factor receptor binding  cellular response to cAMP  cellular response to norepinephrine stimulus  modulation of age-related behavioral decline  modulation of age-related behavioral decline  modulation of age-related behavioral decline  astrocyte projection  modulation of excitatory postsynaptic potential  regulation of spontaneous synaptic transmission  negative regulation of long-term synaptic potentiation  positive regulation of long-term synaptic potentiation  positive regulation of NIK/NF-kappaB signaling  positive regulation of amyloid-beta formation  positive regulation of microglial cell activation  cellular response to amyloid-beta  negative regulation of low-density lipoprotein receptor activity  positive regulation of amyloid fibril formation  amyloid fibril formation  cellular response to nerve growth factor stimulus  neuron projection maintenance  growth cone lamellipodium  growth cone filopodium  regulation of NMDA receptor activity  positive regulation of T cell migration  
Ontology : EGO-EBIpositive regulation of protein phosphorylation  positive regulation of protein phosphorylation  suckling behavior  astrocyte activation involved in immune response  platelet degranulation  DNA binding  serine-type endopeptidase inhibitor activity  receptor binding  protein binding  extracellular region  extracellular space  extracellular space  nuclear envelope lumen  cytoplasm  cytoplasm  endosome  endoplasmic reticulum lumen  smooth endoplasmic reticulum  rough endoplasmic reticulum  Golgi apparatus  Golgi apparatus  Golgi lumen  cytosol  plasma membrane  integral component of plasma membrane  clathrin-coated pit  cell-cell junction  mRNA polyadenylation  regulation of translation  protein phosphorylation  cellular copper ion homeostasis  endocytosis  response to oxidative stress  cell adhesion  regulation of epidermal growth factor-activated receptor activity  G-protein coupled receptor signaling pathway  Notch signaling pathway  axonogenesis  learning or memory  learning or memory  learning or memory  learning  mating behavior  locomotory behavior  axo-dendritic transport  heparin binding  cholesterol metabolic process  negative regulation of cell proliferation  adult locomotory behavior  visual learning  cell surface  cellular process  response to lead ion  regulation of gene expression  positive regulation of gene expression  positive regulation of gene expression  negative regulation of gene expression  positive regulation of peptidyl-threonine phosphorylation  negative regulation of endopeptidase activity  positive regulation of peptidase activity  positive regulation of G2/M transition of mitotic cell cycle  microglia development  integral component of membrane  axon midline choice point recognition  neuron remodeling  dendrite development  peptidase activator activity  enzyme binding  regulation of Wnt signaling pathway  COPII-coated ER to Golgi transport vesicle  extracellular matrix organization  extracellular matrix organization  axon  forebrain development  platelet alpha granule lumen  neuron projection development  neuromuscular junction  endosome lumen  positive regulation of protein binding  trans-Golgi network membrane  tumor necrosis factor production  positive regulation of peptidyl-serine phosphorylation  ionotropic glutamate receptor signaling pathway  ciliary rootlet  regulation of multicellular organism growth  positive regulation of phosphorylation  positive regulation of NF-kappaB import into nucleus  identical protein binding  terminal bouton  dendritic spine  dendritic shaft  receptor complex  post-translational protein modification  cellular protein metabolic process  main axon  innate immune response  membrane raft  apical part of cell  synapse  negative regulation of neuron differentiation  positive regulation of mitotic cell cycle  positive regulation of transcription by RNA polymerase II  positive regulation of JNK cascade  transition metal ion binding  astrocyte activation  regulation of long-term neuronal synaptic plasticity  perinuclear region of cytoplasm  collateral sprouting in absence of injury  regulation of peptidyl-tyrosine phosphorylation  regulation of synapse structure or activity  synapse organization  neuromuscular process controlling balance  positive regulation of DNA binding transcription factor activity  positive regulation of NF-kappaB transcription factor activity  synaptic growth at neuromuscular junction  spindle midzone  positive regulation of protein metabolic process  positive regulation of protein metabolic process  neuron apoptotic process  PTB domain binding  smooth endoplasmic reticulum calcium ion homeostasis  positive regulation of astrocyte activation  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  growth factor receptor binding  cellular response to cAMP  cellular response to norepinephrine stimulus  modulation of age-related behavioral decline  modulation of age-related behavioral decline  modulation of age-related behavioral decline  astrocyte projection  modulation of excitatory postsynaptic potential  regulation of spontaneous synaptic transmission  negative regulation of long-term synaptic potentiation  positive regulation of long-term synaptic potentiation  positive regulation of NIK/NF-kappaB signaling  positive regulation of amyloid-beta formation  positive regulation of microglial cell activation  cellular response to amyloid-beta  negative regulation of low-density lipoprotein receptor activity  positive regulation of amyloid fibril formation  amyloid fibril formation  cellular response to nerve growth factor stimulus  neuron projection maintenance  growth cone lamellipodium  growth cone filopodium  regulation of NMDA receptor activity  positive regulation of T cell migration  
Pathways : BIOCARTAPlatelet Amyloid Precursor Protein Pathway [Genes]    Deregulation of CDK5 in Alzheimers Disease [Genes]    Generation of amyloid b-peptide by PS1 [Genes]   
Pathways : KEGGNeurodegenerative Disorders    Alzheimer's disease   
NDEx NetworkAPP
Atlas of Cancer Signalling NetworkAPP
Wikipedia pathwaysAPP
Orthology - Evolution
OrthoDB351
GeneTree (enSembl)ENSG00000142192
Phylogenetic Trees/Animal Genes : TreeFamAPP
HOVERGENP05067
HOGENOMP05067
Homologs : HomoloGeneAPP
Homology/Alignments : Family Browser (UCSC)APP
Gene fusions - Rearrangements
Fusion : MitelmanAPP/EEA1 [21q21.3/12q22]  
Fusion : MitelmanAPP/RCAN1 [21q21.3/21q22.12]  [t(21;21)(q21;q22)]  
Fusion : MitelmanAPP/SEC63 [21q21.3/6q21]  [t(6;21)(q21;q21)]  
Fusion PortalAPP 21q21.3 EEA1 12q22 LGG
Fusion PortalAPP 21q21.3 RCAN1 21q22.12 BRCA
Fusion PortalAPP 21q21.3 SEC63 6q21 THCA
Fusion : QuiverAPP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APP
dbVarAPP
ClinVarAPP
1000_GenomesAPP 
Exome Variant ServerAPP
ExAC (Exome Aggregation Consortium)ENSG00000142192
GNOMAD BrowserENSG00000142192
Genetic variants : HAPMAP351
Genomic Variants (DGV)APP [DGVbeta]
DECIPHERAPP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPP 
Mutations
ICGC Data PortalAPP 
TCGA Data PortalAPP 
Broad Tumor PortalAPP
OASIS PortalAPP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPP
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch APP
DgiDB (Drug Gene Interaction Database)APP
DoCM (Curated mutations)APP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APP (select a term)
intoGenAPP
Cancer3DAPP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104300    104760    605714   
Orphanet631    21801    21800    21802    21799    21798    14579   
DisGeNETAPP
MedgenAPP
Genetic Testing Registry APP
NextProtP05067 [Medical]
TSGene351
GENETestsAPP
Target ValidationAPP
Huge Navigator APP [HugePedia]
snp3D : Map Gene to Disease351
BioCentury BCIQAPP
ClinGenAPP (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD351
Chemical/Pharm GKB GenePA24910
Clinical trialAPP
Miscellaneous
canSAR (ICR)APP (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPP
EVEXAPP
GoPubMedAPP
iHOPAPP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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