Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AKAP4 (A-kinase anchoring protein 4)

Identity

Alias_namesA kinase (PRKA) anchor protein 4
Alias_symbol (synonym)p82
hAKAP82
AKAP82
Fsc1
HI
CT99
Other aliasAKAP 82
AKAP-4
FSC1
PRKA4
HGNC (Hugo) AKAP4
LocusID (NCBI) 8852
Atlas_Id 46741
Location Xp11.22  [Link to chromosome band Xp11]
Location_base_pair Starts at 50190777 and ends at 50200353 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)
IL13 (5q31.1) / AKAP4 (Xp11.22)

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)AKAP4   374
Cards
Entrez_Gene (NCBI)AKAP4  8852  A-kinase anchoring protein 4
AliasesAKAP; AKAP-4; AKAP82; CT99; 
FSC1; HI; PRKA4; hAKAP82; p82
GeneCards (Weizmann)AKAP4
Ensembl hg19 (Hinxton)ENSG00000147081 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147081 [Gene_View]  ENSG00000147081 [Sequence]  chrX:50190777-50200353 [Contig_View]  AKAP4 [Vega]
ICGC DataPortalENSG00000147081
TCGA cBioPortalAKAP4
AceView (NCBI)AKAP4
Genatlas (Paris)AKAP4
WikiGenes8852
SOURCE (Princeton)AKAP4
Genetics Home Reference (NIH)AKAP4
Genomic and cartography
GoldenPath hg38 (UCSC)AKAP4  -     chrX:50190777-50200353 -  Xp11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKAP4  -     Xp11.22   [Description]    (hg19-Feb_2009)
GoldenPathAKAP4 - Xp11.22 [CytoView hg19]  AKAP4 - Xp11.22 [CytoView hg38]
ImmunoBaseENSG00000147081
Mapping of homologs : NCBIAKAP4 [Mapview hg19]  AKAP4 [Mapview hg38]
OMIM300185   
Gene and transcription
Genbank (Entrez)AF072756 AK292463 BC033007 BC070150 BC126250
RefSeq transcript (Entrez)NM_003886 NM_139289
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKAP4
Cluster EST : UnigeneHs.97633 [ NCBI ]
CGAP (NCI)Hs.97633
Alternative Splicing GalleryENSG00000147081
Gene ExpressionAKAP4 [ NCBI-GEO ]   AKAP4 [ EBI - ARRAY_EXPRESS ]   AKAP4 [ SEEK ]   AKAP4 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8852
GTEX Portal (Tissue expression)AKAP4
Human Protein AtlasENSG00000147081-AKAP4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5JQC9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5JQC9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5JQC9
Splice isoforms : SwissVarQ5JQC9
PhosPhoSitePlusQ5JQC9
Domains : Interpro (EBI)AKAP_110    AKAP_110_C    RII_binding_1    SPHK1-interactor_AKAP_110   
Domain families : Pfam (Sanger)AKAP_110 (PF05716)    RII_binding_1 (PF10522)   
Domain families : Pfam (NCBI)pfam05716    pfam10522   
Domain families : Smart (EMBL)AKAP_110 (SM00807)  
Conserved Domain (NCBI)AKAP4
DMDM Disease mutations8852
Blocks (Seattle)AKAP4
SuperfamilyQ5JQC9
Human Protein Atlas [tissue]ENSG00000147081-AKAP4 [tissue]
Peptide AtlasQ5JQC9
HPRD02173
IPIIPI00157860   IPI00333264   IPI00552135   IPI00022057   IPI00880102   
Protein Interaction databases
DIP (DOE-UCLA)Q5JQC9
IntAct (EBI)Q5JQC9
FunCoupENSG00000147081
BioGRIDAKAP4
STRING (EMBL)AKAP4
ZODIACAKAP4
Ontologies - Pathways
QuickGOQ5JQC9
Ontology : AmiGOprotein binding  nucleus  cytoplasm  cytoskeleton  cAMP-dependent protein kinase complex  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  single fertilization  protein localization  Z disc  flagellated sperm motility  motile cilium  sperm fibrous sheath  motile cilium assembly  establishment of protein localization  perinuclear region of cytoplasm  protein kinase A binding  protein kinase A binding  sperm principal piece  
Ontology : EGO-EBIprotein binding  nucleus  cytoplasm  cytoskeleton  cAMP-dependent protein kinase complex  signal transduction  transmembrane receptor protein serine/threonine kinase signaling pathway  single fertilization  protein localization  Z disc  flagellated sperm motility  motile cilium  sperm fibrous sheath  motile cilium assembly  establishment of protein localization  perinuclear region of cytoplasm  protein kinase A binding  protein kinase A binding  sperm principal piece  
NDEx NetworkAKAP4
Atlas of Cancer Signalling NetworkAKAP4
Wikipedia pathwaysAKAP4
Orthology - Evolution
OrthoDB8852
GeneTree (enSembl)ENSG00000147081
Phylogenetic Trees/Animal Genes : TreeFamAKAP4
HOGENOMQ5JQC9
Homologs : HomoloGeneAKAP4
Homology/Alignments : Family Browser (UCSC)AKAP4
Gene fusions - Rearrangements
Fusion : QuiverAKAP4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKAP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP4
dbVarAKAP4
ClinVarAKAP4
1000_GenomesAKAP4 
Exome Variant ServerAKAP4
ExAC (Exome Aggregation Consortium)ENSG00000147081
GNOMAD BrowserENSG00000147081
Varsome BrowserAKAP4
Genetic variants : HAPMAP8852
Genomic Variants (DGV)AKAP4 [DGVbeta]
DECIPHERAKAP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKAP4 
Mutations
ICGC Data PortalAKAP4 
TCGA Data PortalAKAP4 
Broad Tumor PortalAKAP4
OASIS PortalAKAP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKAP4
Mutations and Diseases : HGMDAKAP4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch AKAP4
DgiDB (Drug Gene Interaction Database)AKAP4
DoCM (Curated mutations)AKAP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP4 (select a term)
intoGenAKAP4
Cancer3DAKAP4(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300185   
Orphanet
DisGeNETAKAP4
MedgenAKAP4
Genetic Testing Registry AKAP4
NextProtQ5JQC9 [Medical]
TSGene8852
GENETestsAKAP4
Target ValidationAKAP4
Huge Navigator AKAP4 [HugePedia]
snp3D : Map Gene to Disease8852
BioCentury BCIQAKAP4
ClinGenAKAP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8852
Chemical/Pharm GKB GenePA24668
Clinical trialAKAP4
Miscellaneous
canSAR (ICR)AKAP4 (select the gene name)
DataMed IndexAKAP4
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP4
EVEXAKAP4
GoPubMedAKAP4
iHOPAKAP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 26 17:58:34 CEST 2019
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