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APH1B (aph-1 homolog B, gamma-secretase subunit)

Identity

Alias (NCBI)APH-1B
PRO1328
PSFL
TAAV688
HGNC (Hugo) APH1B
HGNC Alias symbPSFL
APH-1B
DKFZp564D0372
HGNC Previous nameanterior pharynx defective 1 homolog B (C. elegans)
 APH1B gamma secretase subunit
LocusID (NCBI) 83464
Atlas_Id 47465
Location 15q22.2  [Link to chromosome band 15q22]
Location_base_pair Starts at 63277605 and ends at 63309126 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)
APH1B (15q22.2) / APH1B (15q22.2)APH1B (15q22.2) / ERP29 (12q24.13)

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)APH1B   24080
Cards
Entrez_Gene (NCBI)APH1B    aph-1 homolog B, gamma-secretase subunit
AliasesAPH-1B; PRO1328; PSFL; TAAV688
GeneCards (Weizmann)APH1B
Ensembl hg19 (Hinxton)ENSG00000138613 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138613 [Gene_View]  ENSG00000138613 [Sequence]  chr15:63277605-63309126 [Contig_View]  APH1B [Vega]
ICGC DataPortalENSG00000138613
TCGA cBioPortalAPH1B
AceView (NCBI)APH1B
Genatlas (Paris)APH1B
SOURCE (Princeton)APH1B
Genetics Home Reference (NIH)APH1B
Genomic and cartography
GoldenPath hg38 (UCSC)APH1B  -     chr15:63277605-63309126 +  15q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APH1B  -     15q22.2   [Description]    (hg19-Feb_2009)
GoldenPathAPH1B - 15q22.2 [CytoView hg19]  APH1B - 15q22.2 [CytoView hg38]
ImmunoBaseENSG00000138613
Genome Data Viewer NCBIAPH1B [Mapview hg19]  
OMIM607630   
Gene and transcription
Genbank (Entrez)AA808355 AB189172 AB197122 AF508794 AI693802
RefSeq transcript (Entrez)NM_001145646 NM_031301
Consensus coding sequences : CCDS (NCBI)APH1B
Gene ExpressionAPH1B [ NCBI-GEO ]   APH1B [ EBI - ARRAY_EXPRESS ]   APH1B [ SEEK ]   APH1B [ MEM ]
Gene Expression Viewer (FireBrowse)APH1B [ Firebrowse - Broad ]
GenevisibleExpression of APH1B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)83464
GTEX Portal (Tissue expression)APH1B
Human Protein AtlasENSG00000138613-APH1B [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WW43   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WW43  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WW43
PhosPhoSitePlusQ8WW43
Domains : Interpro (EBI)Aph-1   
Domain families : Pfam (Sanger)Aph-1 (PF06105)   
Domain families : Pfam (NCBI)pfam06105   
Conserved Domain (NCBI)APH1B
SuperfamilyQ8WW43
AlphaFold pdb e-kbQ8WW43   
Human Protein Atlas [tissue]ENSG00000138613-APH1B [tissue]
HPRD06361
Protein Interaction databases
DIP (DOE-UCLA)Q8WW43
IntAct (EBI)Q8WW43
BioGRIDAPH1B
STRING (EMBL)APH1B
ZODIACAPH1B
Ontologies - Pathways
QuickGOQ8WW43
Ontology : AmiGOprotein binding  endoplasmic reticulum  plasma membrane  Notch signaling pathway  Notch receptor processing  Notch receptor processing  locomotory behavior  endosome membrane  positive regulation of endopeptidase activity  positive regulation of endopeptidase activity  integral component of membrane  integral component of membrane  protein processing  protein processing  protein processing  protein processing  transport vesicle  protein-macromolecule adaptor activity  protein-macromolecule adaptor activity  membrane protein intracellular domain proteolysis  amyloid-beta formation  amyloid-beta formation  Notch receptor processing, ligand-dependent  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  positive regulation of apoptotic process  ephrin receptor signaling pathway  endopeptidase activator activity  endopeptidase activator activity  gamma-secretase complex  gamma-secretase complex  gamma-secretase complex  amyloid fibril formation  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  plasma membrane  Notch signaling pathway  Notch receptor processing  Notch receptor processing  locomotory behavior  endosome membrane  positive regulation of endopeptidase activity  positive regulation of endopeptidase activity  integral component of membrane  integral component of membrane  protein processing  protein processing  protein processing  protein processing  transport vesicle  protein-macromolecule adaptor activity  protein-macromolecule adaptor activity  membrane protein intracellular domain proteolysis  amyloid-beta formation  amyloid-beta formation  Notch receptor processing, ligand-dependent  amyloid precursor protein catabolic process  amyloid precursor protein catabolic process  positive regulation of apoptotic process  ephrin receptor signaling pathway  endopeptidase activator activity  endopeptidase activator activity  gamma-secretase complex  gamma-secretase complex  gamma-secretase complex  amyloid fibril formation  
Pathways : KEGGNotch signaling pathway    Alzheimer's disease   
NDEx NetworkAPH1B
Atlas of Cancer Signalling NetworkAPH1B
Wikipedia pathwaysAPH1B
Orthology - Evolution
OrthoDB83464
GeneTree (enSembl)ENSG00000138613
Phylogenetic Trees/Animal Genes : TreeFamAPH1B
Homologs : HomoloGeneAPH1B
Homology/Alignments : Family Browser (UCSC)APH1B
Gene fusions - Rearrangements
Fusion : QuiverAPH1B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPH1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APH1B
dbVarAPH1B
ClinVarAPH1B
MonarchAPH1B
1000_GenomesAPH1B 
Exome Variant ServerAPH1B
GNOMAD BrowserENSG00000138613
Varsome BrowserAPH1B
ACMGAPH1B variants
VarityQ8WW43
Genomic Variants (DGV)APH1B [DGVbeta]
DECIPHERAPH1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPH1B 
Mutations
ICGC Data PortalAPH1B 
TCGA Data PortalAPH1B 
Broad Tumor PortalAPH1B
OASIS PortalAPH1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPH1B  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAPH1B
Mutations and Diseases : HGMDAPH1B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAPH1B
DgiDB (Drug Gene Interaction Database)APH1B
DoCM (Curated mutations)APH1B
CIViC (Clinical Interpretations of Variants in Cancer)APH1B
Cancer3DAPH1B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607630   
Orphanet
DisGeNETAPH1B
MedgenAPH1B
Genetic Testing Registry APH1B
NextProtQ8WW43 [Medical]
GENETestsAPH1B
Target ValidationAPH1B
Huge Navigator APH1B [HugePedia]
ClinGenAPH1B
Clinical trials, drugs, therapy
MyCancerGenomeAPH1B
Protein Interactions : CTDAPH1B
Pharm GKB GenePA142672600
PharosQ8WW43
Clinical trialAPH1B
Miscellaneous
canSAR (ICR)APH1B
HarmonizomeAPH1B
DataMed IndexAPH1B
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAPH1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:59:40 CEST 2021

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