Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

APH1A (aph-1 homolog A, gamma-secretase subunit)

Identity

Alias_namesanterior pharynx defective 1 homolog A (C. elegans)
APH1A gamma secretase subunit
Alias_symbol (synonym)APH-1A
CGI-78
Other alias6530402N02Rik
APH-1
HGNC (Hugo) APH1A
LocusID (NCBI) 51107
Atlas_Id 60421
Location 1q21.2  [Link to chromosome band 1q21]
Location_base_pair Starts at 150265399 and ends at 150269209 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)
APH1A (1q21.2) / APH1A (1q21.2)APH1A (1q21.2) / SLAMF1 (1q23.3)

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

 

|TD<


External links

Nomenclature
HGNC (Hugo)APH1A   29509
Cards
Entrez_Gene (NCBI)APH1A  51107  aph-1 homolog A, gamma-secretase subunit
Aliases6530402N02Rik; APH-1; APH-1A; CGI-78
GeneCards (Weizmann)APH1A
Ensembl hg19 (Hinxton)ENSG00000117362 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117362 [Gene_View]  chr1:150265399-150269209 [Contig_View]  APH1A [Vega]
ICGC DataPortalENSG00000117362
TCGA cBioPortalAPH1A
AceView (NCBI)APH1A
Genatlas (Paris)APH1A
WikiGenes51107
SOURCE (Princeton)APH1A
Genetics Home Reference (NIH)APH1A
Genomic and cartography
GoldenPath hg38 (UCSC)APH1A  -     chr1:150265399-150269209 -  1q21.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APH1A  -     1q21.2   [Description]    (hg19-Feb_2009)
EnsemblAPH1A - 1q21.2 [CytoView hg19]  APH1A - 1q21.2 [CytoView hg38]
Mapping of homologs : NCBIAPH1A [Mapview hg19]  APH1A [Mapview hg38]
OMIM607629   
Gene and transcription
Genbank (Entrez)AF151835 AF508787 AK027879 AK075295 AK075452
RefSeq transcript (Entrez)NM_001077628 NM_001243771 NM_001243772 NM_016022
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APH1A
Cluster EST : UnigeneHs.735911 [ NCBI ]
CGAP (NCI)Hs.735911
Alternative Splicing GalleryENSG00000117362
Gene ExpressionAPH1A [ NCBI-GEO ]   APH1A [ EBI - ARRAY_EXPRESS ]   APH1A [ SEEK ]   APH1A [ MEM ]
Gene Expression Viewer (FireBrowse)APH1A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51107
GTEX Portal (Tissue expression)APH1A
Human Protein AtlasENSG00000117362-APH1A [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96BI3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96BI3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96BI3
Splice isoforms : SwissVarQ96BI3
PhosPhoSitePlusQ96BI3
Domains : Interpro (EBI)Aph-1   
Domain families : Pfam (Sanger)Aph-1 (PF06105)   
Domain families : Pfam (NCBI)pfam06105   
Conserved Domain (NCBI)APH1A
DMDM Disease mutations51107
Blocks (Seattle)APH1A
PDB (SRS)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (PDBSum)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (IMB)5A63    5FN2    5FN3    5FN4    5FN5   
PDB (RSDB)5A63    5FN2    5FN3    5FN4    5FN5   
Structural Biology KnowledgeBase5A63    5FN2    5FN3    5FN4    5FN5   
SCOP (Structural Classification of Proteins)5A63    5FN2    5FN3    5FN4    5FN5   
CATH (Classification of proteins structures)5A63    5FN2    5FN3    5FN4    5FN5   
SuperfamilyQ96BI3
Human Protein Atlas [tissue]ENSG00000117362-APH1A [tissue]
Peptide AtlasQ96BI3
IPIIPI00059964   IPI00844196   IPI00909298   IPI00514433   IPI00977480   IPI01014631   
Protein Interaction databases
DIP (DOE-UCLA)Q96BI3
IntAct (EBI)Q96BI3
FunCoupENSG00000117362
BioGRIDAPH1A
STRING (EMBL)APH1A
ZODIACAPH1A
Ontologies - Pathways
QuickGOQ96BI3
Ontology : AmiGOmetanephros development  endopeptidase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch signaling pathway  Notch receptor processing  Notch receptor processing  membrane  integral component of membrane  protein processing  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  Golgi cisterna membrane  beta-amyloid formation  amyloid precursor protein metabolic process  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  ephrin receptor signaling pathway  gamma-secretase complex  gamma-secretase complex  
Ontology : EGO-EBImetanephros development  endopeptidase activity  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  Golgi apparatus  plasma membrane  integral component of plasma membrane  membrane protein ectodomain proteolysis  Notch signaling pathway  Notch signaling pathway  Notch receptor processing  Notch receptor processing  membrane  integral component of membrane  protein processing  membrane protein intracellular domain proteolysis  membrane protein intracellular domain proteolysis  Golgi cisterna membrane  beta-amyloid formation  amyloid precursor protein metabolic process  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  positive regulation of apoptotic process  positive regulation of catalytic activity  ephrin receptor signaling pathway  gamma-secretase complex  gamma-secretase complex  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
NDEx NetworkAPH1A
Atlas of Cancer Signalling NetworkAPH1A
Wikipedia pathwaysAPH1A
Orthology - Evolution
OrthoDB51107
GeneTree (enSembl)ENSG00000117362
Phylogenetic Trees/Animal Genes : TreeFamAPH1A
HOVERGENQ96BI3
HOGENOMQ96BI3
Homologs : HomoloGeneAPH1A
Homology/Alignments : Family Browser (UCSC)APH1A
Gene fusions - Rearrangements
Tumor Fusion PortalAPH1A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPH1A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APH1A
dbVarAPH1A
ClinVarAPH1A
1000_GenomesAPH1A 
Exome Variant ServerAPH1A
ExAC (Exome Aggregation Consortium)ENSG00000117362
GNOMAD BrowserENSG00000117362
Genetic variants : HAPMAP51107
Genomic Variants (DGV)APH1A [DGVbeta]
DECIPHERAPH1A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPH1A 
Mutations
ICGC Data PortalAPH1A 
TCGA Data PortalAPH1A 
Broad Tumor PortalAPH1A
OASIS PortalAPH1A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPH1A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPH1A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch APH1A
DgiDB (Drug Gene Interaction Database)APH1A
DoCM (Curated mutations)APH1A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APH1A (select a term)
intoGenAPH1A
Cancer3DAPH1A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607629   
Orphanet
DisGeNETAPH1A
MedgenAPH1A
Genetic Testing Registry APH1A
NextProtQ96BI3 [Medical]
TSGene51107
GENETestsAPH1A
Target ValidationAPH1A
Huge Navigator APH1A [HugePedia]
snp3D : Map Gene to Disease51107
BioCentury BCIQAPH1A
ClinGenAPH1A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51107
Chemical/Pharm GKB GenePA142672599
Clinical trialAPH1A
Miscellaneous
canSAR (ICR)APH1A (select the gene name)
Probes
Litterature
PubMed66 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPH1A
EVEXAPH1A
GoPubMedAPH1A
iHOPAPH1A
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 : Tue Nov 21 12:59:15 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.