Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AKAP13 (A-kinase anchoring protein 13)

Identity

Alias_namesLBC
lymphoid blast crisis oncogene
A kinase (PRKA) anchor protein 13
Alias_symbol (synonym)Ht31
BRX
AKAP-Lbc
c-lbc
PROTO-LB
HA-3
ARHGEF13
Other aliasAKAP-13
PRKA13
PROTO-LBC
p47
HGNC (Hugo) AKAP13
LocusID (NCBI) 11214
Atlas_Id 53096
Location 15q25.3  [Link to chromosome band 15q25]
Location_base_pair Starts at 85380616 and ends at 85749358 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)
ADAMTS12 (5p13.3) / AKAP13 (15q25.3)AKAP13 (15q25.3) / AKAP13 (15q25.3)AKAP13 (15q25.3) / C3orf58 (3q24)
AKAP13 (15q25.3) / CHD2 (15q26.1)AKAP13 (15q25.3) / CHSY3 (5q23.3)AKAP13 (15q25.3) / DMXL2 (15q21.2)
AKAP13 (15q25.3) / IGF1R (15q26.3)AKAP13 (15q25.3) / IQCG (3q29)AKAP13 (15q25.3) / NCOA2 (8q13.3)
AKAP13 (15q25.3) / NRG1 (8p12)AKAP13 (15q25.3) / NTRK3 (15q25.3)AKAP13 (15q25.3) / PDE8A (15q25.3)
AKAP13 (15q25.3) / RET (10q11.21)AKAP13 (15q25.3) / SERPINA1 (14q32.13)AKAP13 (15q25.3) / SUPT3H (6p21.1)
AKAP13 (15q25.3) / USP47 (11p15.3)AKAP13 (15q25.3) / ZFYVE1 (14q24.2)DDT (22q11.23) / AKAP13 (15q25.3)
GSN (9q33.2) / AKAP13 (15q25.3)IQGAP1 (15q26.1) / AKAP13 (15q25.3)KMT2A (11q23.3) / AKAP13 (15q25.3)
PIP5K1C (19p13.3) / AKAP13 (15q25.3)PPFIBP1 (12p11.23) / AKAP13 (15q25.3)RNF180 (5q12.3) / AKAP13 (15q25.3)
SPG11 (15q21.1) / AKAP13 (15q25.3)STX8 (17p13.1) / AKAP13 (15q25.3)TMTC1 (12p11.22) / AKAP13 (15q25.3)
XPO6 (16p11.2) / AKAP13 (15q25.3)AKAP13 15q25.3 / CHD2 15q26.1AKAP13 15q25.3 / CHSY3 5q23.3
AKAP13 15q25.3 / IGF1R 15q26.3AKAP13 15q25.3 / NRG1 8p12AKAP13 15q25.3 / NTRK3 15q25.3
AKAP13 15q25.3 / RET 10q11.21GSN 9q33.2 / AKAP13 15q25.3

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

 

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(5;15)(q12;q25) RNF180/AKAP13
t(11;15)(q23;q25) KMT2A/AKAP13

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 10 ]
  inv(15)(q21q25) AKAP13/DMXL2
t(5;15)(q23;q25) AKAP13/CHSY3
t(8;15)(p12;q25) AKAP13/NRG1
t(9;15)(q33;q25) GSN/AKAP13
t(10;15)(q11;q25) AKAP13/RET
AKAP13/NTRK3 (15q25)
AKAP13/PDE8A (15q25)
t(15;15)(q25;q26) AKAP13/CHD2
t(15;15)(q25;q26) AKAP13/IGF1R
t(15;15)(q25;q26) IQGAP1/AKAP13

External links

Nomenclature
HGNC (Hugo)AKAP13   371
Cards
Entrez_Gene (NCBI)AKAP13  11214  A-kinase anchoring protein 13
AliasesAKAP-13; AKAP-Lbc; ARHGEF13; BRX; 
HA-3; Ht31; LBC; PRKA13; PROTO-LB; PROTO-LBC; c-lbc; p47
GeneCards (Weizmann)AKAP13
Ensembl hg19 (Hinxton)ENSG00000170776 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170776 [Gene_View]  ENSG00000170776 [Sequence]  chr15:85380616-85749358 [Contig_View]  AKAP13 [Vega]
ICGC DataPortalENSG00000170776
TCGA cBioPortalAKAP13
AceView (NCBI)AKAP13
Genatlas (Paris)AKAP13
WikiGenes11214
SOURCE (Princeton)AKAP13
Genetics Home Reference (NIH)AKAP13
Genomic and cartography
GoldenPath hg38 (UCSC)AKAP13  -     chr15:85380616-85749358 +  15q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AKAP13  -     15q25.3   [Description]    (hg19-Feb_2009)
GoldenPathAKAP13 - 15q25.3 [CytoView hg19]  AKAP13 - 15q25.3 [CytoView hg38]
ImmunoBaseENSG00000170776
Mapping of homologs : NCBIAKAP13 [Mapview hg19]  AKAP13 [Mapview hg38]
OMIM604686   
Gene and transcription
Genbank (Entrez)AB055890 AB209414 AF086293 AF126008 AF387101
RefSeq transcript (Entrez)NM_001270546 NM_006738 NM_007200 NM_144767
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AKAP13
Cluster EST : UnigeneHs.710656 [ NCBI ]
CGAP (NCI)Hs.710656
Alternative Splicing GalleryENSG00000170776
Gene ExpressionAKAP13 [ NCBI-GEO ]   AKAP13 [ EBI - ARRAY_EXPRESS ]   AKAP13 [ SEEK ]   AKAP13 [ MEM ]
Gene Expression Viewer (FireBrowse)AKAP13 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11214
GTEX Portal (Tissue expression)AKAP13
Human Protein AtlasENSG00000170776-AKAP13 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ12802   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ12802  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ12802
Splice isoforms : SwissVarQ12802
PhosPhoSitePlusQ12802
Domaine pattern : Prosite (Expaxy)DH_2 (PS50010)    PH_DOMAIN (PS50003)    ZF_DAG_PE_1 (PS00479)    ZF_DAG_PE_2 (PS50081)   
Domains : Interpro (EBI)AKAP13    DBL_dom_sf    DH-domain    PE/DAG-bd    PH-like_dom_sf    PH_domain    RII_binding_1   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGEF (PF00621)    RII_binding_1 (PF10522)   
Domain families : Pfam (NCBI)pfam00169    pfam00621    pfam10522   
Domain families : Smart (EMBL)C1 (SM00109)  PH (SM00233)  RhoGEF (SM00325)  
Conserved Domain (NCBI)AKAP13
DMDM Disease mutations11214
Blocks (Seattle)AKAP13
PDB (RSDB)2DRN    2LG1    4D0N    4D0O    6BCA   
PDB Europe2DRN    2LG1    4D0N    4D0O    6BCA   
PDB (PDBSum)2DRN    2LG1    4D0N    4D0O    6BCA   
PDB (IMB)2DRN    2LG1    4D0N    4D0O    6BCA   
Structural Biology KnowledgeBase2DRN    2LG1    4D0N    4D0O    6BCA   
SCOP (Structural Classification of Proteins)2DRN    2LG1    4D0N    4D0O    6BCA   
CATH (Classification of proteins structures)2DRN    2LG1    4D0N    4D0O    6BCA   
SuperfamilyQ12802
Human Protein Atlas [tissue]ENSG00000170776-AKAP13 [tissue]
Peptide AtlasQ12802
HPRD05253
IPIIPI00329783   IPI00065931   IPI00829717   IPI00829774   IPI00384381   IPI00829853   IPI00885071   IPI01018636   IPI00872432   IPI00375281   
Protein Interaction databases
DIP (DOE-UCLA)Q12802
IntAct (EBI)Q12802
FunCoupENSG00000170776
BioGRIDAKAP13
STRING (EMBL)AKAP13
ZODIACAKAP13
Ontologies - Pathways
QuickGOQ12802
Ontology : AmiGOcAMP-dependent protein kinase activity  MAP-kinase scaffold activity  Rho guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytosol  cytosol  actin filament  cell cortex  protein phosphorylation  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  heart development  membrane  Rho GTPase binding  cortical actin cytoskeleton  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of MAP kinase activity  metal ion binding  perinuclear region of cytoplasm  protein kinase A binding  regulation of small GTPase mediated signal transduction  nuclear export  cardiac muscle cell differentiation  molecular adaptor activity  regulation of sarcomere organization  bone development  cell growth involved in cardiac muscle cell development  adrenergic receptor signaling pathway  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  regulation of glucocorticoid mediated signaling pathway  
Ontology : EGO-EBIcAMP-dependent protein kinase activity  MAP-kinase scaffold activity  Rho guanyl-nucleotide exchange factor activity  protein binding  nucleus  cytosol  cytosol  actin filament  cell cortex  protein phosphorylation  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway  heart development  membrane  Rho GTPase binding  cortical actin cytoskeleton  positive regulation of Rho protein signal transduction  positive regulation of Rho protein signal transduction  positive regulation of apoptotic process  positive regulation of I-kappaB kinase/NF-kappaB signaling  positive regulation of MAP kinase activity  metal ion binding  perinuclear region of cytoplasm  protein kinase A binding  regulation of small GTPase mediated signal transduction  nuclear export  cardiac muscle cell differentiation  molecular adaptor activity  regulation of sarcomere organization  bone development  cell growth involved in cardiac muscle cell development  adrenergic receptor signaling pathway  adenylate cyclase-activating adrenergic receptor signaling pathway involved in heart process  regulation of glucocorticoid mediated signaling pathway  
NDEx NetworkAKAP13
Atlas of Cancer Signalling NetworkAKAP13
Wikipedia pathwaysAKAP13
Orthology - Evolution
OrthoDB11214
GeneTree (enSembl)ENSG00000170776
Phylogenetic Trees/Animal Genes : TreeFamAKAP13
HOGENOMQ12802
Homologs : HomoloGeneAKAP13
Homology/Alignments : Family Browser (UCSC)AKAP13
Gene fusions - Rearrangements
Fusion : MitelmanAKAP13/CHD2 [15q25.3/15q26.1]  
Fusion : MitelmanAKAP13/CHSY3 [15q25.3/5q23.3]  [t(5;15)(q23;q25)]  
Fusion : MitelmanAKAP13/DMXL2 [15q25.3/15q21.2]  [inv(15)(q21q25)]  
Fusion : MitelmanAKAP13/IGF1R [15q25.3/15q26.3]  [t(15;15)(q25;q26)]  
Fusion : MitelmanAKAP13/NRG1 [15q25.3/8p12]  [t(8;15)(p12;q25)]  
Fusion : MitelmanAKAP13/NTRK3 [15q25.3/15q25.3]  [t(15;15)(q25;q25)]  
Fusion : MitelmanAKAP13/PDE8A [15q25.3/15q25.3]  [t(15;15)(q25;q25)]  
Fusion : MitelmanAKAP13/RET [15q25.3/10q11.21]  [t(10;15)(q11;q25)]  
Fusion : MitelmanGSN/AKAP13 [9q33.2/15q25.3]  [t(9;15)(q33;q25)]  
Fusion : MitelmanIQGAP1/AKAP13 [15q26.1/15q25.3]  [t(15;15)(q25;q26)]  
Fusion PortalAKAP13 15q25.3 CHD2 15q26.1 LUSC
Fusion PortalAKAP13 15q25.3 CHSY3 5q23.3 BRCA
Fusion PortalAKAP13 15q25.3 IGF1R 15q26.3 BRCA
Fusion PortalAKAP13 15q25.3 NRG1 8p12 BRCA
Fusion PortalAKAP13 15q25.3 NTRK3 15q25.3 LGG
Fusion PortalAKAP13 15q25.3 RET 10q11.21 THCA
Fusion PortalGSN 9q33.2 AKAP13 15q25.3 THCA
Fusion : QuiverAKAP13
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAKAP13 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AKAP13
dbVarAKAP13
ClinVarAKAP13
1000_GenomesAKAP13 
Exome Variant ServerAKAP13
ExAC (Exome Aggregation Consortium)ENSG00000170776
GNOMAD BrowserENSG00000170776
Varsome BrowserAKAP13
Genetic variants : HAPMAP11214
Genomic Variants (DGV)AKAP13 [DGVbeta]
DECIPHERAKAP13 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAKAP13 
Mutations
ICGC Data PortalAKAP13 
TCGA Data PortalAKAP13 
Broad Tumor PortalAKAP13
OASIS PortalAKAP13 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAKAP13  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAKAP13
Mutations and Diseases : HGMDAKAP13
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 AKAP13
DgiDB (Drug Gene Interaction Database)AKAP13
DoCM (Curated mutations)AKAP13 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AKAP13 (select a term)
intoGenAKAP13
Cancer3DAKAP13(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604686   
Orphanet
DisGeNETAKAP13
MedgenAKAP13
Genetic Testing Registry AKAP13
NextProtQ12802 [Medical]
TSGene11214
GENETestsAKAP13
Target ValidationAKAP13
Huge Navigator AKAP13 [HugePedia]
snp3D : Map Gene to Disease11214
BioCentury BCIQAKAP13
ClinGenAKAP13
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11214
Chemical/Pharm GKB GenePA24665
Clinical trialAKAP13
Miscellaneous
canSAR (ICR)AKAP13 (select the gene name)
DataMed IndexAKAP13
Probes
Litterature
PubMed89 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAKAP13
EVEXAKAP13
GoPubMedAKAP13
iHOPAKAP13
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:31:45 CET 2019
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