Summary ?
GeneID10142
SymbolAKAP9
SynonymsAKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAO
DescriptionA-kinase anchoring protein 9
ReferenceMIM:604001|HGNC:HGNC:379|Ensembl:ENSG00000127914|HPRD:04921|Vega:OTTHUMG00000131127
Gene typeprotein-coding
Map location7q21-q22
Pascal p-value0.111
Fetal beta1.52
SupportG2Cdb.humanNRC
CompositeSet
Darnell FMRP targets
Potential synaptic genes

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:GWASdbGenome-wide Association StudiesGWASdb records for schizophrenia
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
PMID:cooccurHigh-throughput literature-searchSystematic search in PubMed for genes co-occurring with SCZ keywords. A total of 3027 genes were included.
LiteratureHigh-throughput literature-searchCo-occurance with Schizophrenia keywords: schizophrenia,schizophrenic,schizophreniasClick to show details
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 
NetworkShortest path distance of core genes in the Human protein-protein interaction networkContribution to shortest path in PPI network: 0.3189 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
AKAP9chr791674467ATNM_005751
NM_147185
p.1770I>F
p.1770I>F
missense
missense
SchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RHBDF20.470.52
HMOX10.460.51
C10orf540.460.51
SERPINA10.450.40
CD400.450.49
TMBIM10.450.48
CASS40.450.47
SPI10.450.47
NLRC50.440.46
RAC20.440.47
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
RTF1-0.30-0.31
RP9-0.30-0.34
MPHOSPH10-0.29-0.30
CIR1-0.29-0.32
RBMX2-0.29-0.33
NOVA1-0.29-0.29
THOC2-0.29-0.31
RIOK1-0.28-0.29
RSBN1L-0.28-0.30
ZNF30-0.28-0.30

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0005102receptor bindingTASNeurotransmitter (GO term level: 4)9482789 
GO:0016301kinase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0007268synaptic transmissionTASneuron, Synap, Neurotransmitter (GO term level: 6)9482789 
GO:0007165signal transductionTAS10390370 
GO:0006810transportTAS10390370 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005794Golgi apparatusIEA-
GO:0005813centrosomeTAS10202149 
GO:0005856cytoskeletonTAS9482789 
GO:0005737cytoplasmIEA-

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
CALM1CALML2 | CAMI | DD132 | PHKDcalmodulin 1 (phosphorylase kinase, delta)Affinity Capture-Western
Reconstituted Complex
BioGRID12221128 
CALM2CAMII | PHKD | PHKD2calmodulin 2 (phosphorylase kinase, delta)Two-hybridBioGRID12221128 
CLIC1G6 | NCC27chloride intracellular channel 1-HPRD,BioGRID12163479 
CSNK1DHCKIDcasein kinase 1, delta-HPRD,BioGRID12270714 
CSNK1EHCKIE | MGC10398casein kinase 1, epsilon-HPRD12270714 
FNBP1FBP17 | KIAA0554 | MGC126804formin binding protein 1-HPRD,BioGRID15047863 
GRIN1NMDA1 | NMDAR1 | NR1glutamate receptor, ionotropic, N-methyl D-aspartate 1-HPRD9482789|10862698 
GRIN1NMDA1 | NMDAR1 | NR1glutamate receptor, ionotropic, N-methyl D-aspartate 1-HPRD10862698 
KCNQ1ATFB1 | FLJ26167 | JLNS1 | KCNA8 | KCNA9 | KVLQT1 | Kv1.9 | Kv7.1 | LQT | LQT1 | RWS | SQT2 | WRSpotassium voltage-gated channel, KQT-like subfamily, member 1-HPRD,BioGRID11799244 
PCNTKEN | MOPD2 | PCN | PCNT2 | PCNTB | PCTN2 | SCKL4pericentrin-HPRD12221128 
PKN1DBK | MGC46204 | PAK1 | PKN | PKN-ALPHA | PRK1 | PRKCL1protein kinase N1-HPRD,BioGRID10358086 
PPP1CAMGC15877 | MGC1674 | PP-1A | PPP1Aprotein phosphatase 1, catalytic subunit, alpha isoform-HPRD10358086 
PPP2R1BMGC26454 | PR65Bprotein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform-HPRD10358086 
PRKAR2AMGC3606 | PKR2 | PRKAR2protein kinase, cAMP-dependent, regulatory, type II, alpha-HPRD,BioGRID10358086 
PRKAR2AMGC3606 | PKR2 | PRKAR2protein kinase, cAMP-dependent, regulatory, type II, alpha-HPRD10358086 |11799244 
PRKAR2BPRKAR2 | RII-BETAprotein kinase, cAMP-dependent, regulatory, type II, beta-HPRD11799244 
PRKCEMGC125656 | MGC125657 | PKCE | nPKC-epsilonprotein kinase C, epsilon-HPRD10945988 
TACC3ERIC1 | MGC117382 | MGC133242transforming, acidic coiled-coil containing protein 3-HPRD,BioGRID12015314 
TRIP10CIP4 | HSTP | STOT | STPthyroid hormone receptor interactor 10Reconstituted Complex
Two-hybrid
BioGRID15047863 
TSNAXTRAXtranslin-associated factor X-HPRD12036294 
TUBGCP3GCP3 | SPBC98 | Spc98ptubulin, gamma complex associated protein 3-HPRD,BioGRID12221128 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
BIOCARTA AKAPCENTROSOME PATHWAY 1514All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE 421253All SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186155All SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279221All SZGR 2.0 genes in this pathway
REACTOME CELL CYCLE MITOTIC 325185All SZGR 2.0 genes in this pathway
REACTOME RECRUITMENT OF MITOTIC CENTROSOME PROTEINS AND COMPLEXES 6643All SZGR 2.0 genes in this pathway
REACTOME LOSS OF NLP FROM MITOTIC CENTROSOMES 5938All SZGR 2.0 genes in this pathway
REACTOME NEUROTRANSMITTER RECEPTOR BINDING AND DOWNSTREAM TRANSMISSION IN THE POSTSYNAPTIC CELL 137110All SZGR 2.0 genes in this pathway
REACTOME RAS ACTIVATION UOPN CA2 INFUX THROUGH NMDA RECEPTOR 1715All SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF NMDA RECEPTOR UPON GLUTAMATE BINDING AND POSTSYNAPTIC EVENTS 3732All SZGR 2.0 genes in this pathway
REACTOME CREB PHOSPHORYLATION THROUGH THE ACTIVATION OF RAS 2723All SZGR 2.0 genes in this pathway
REACTOME POST NMDA RECEPTOR ACTIVATION EVENTS 3328All SZGR 2.0 genes in this pathway
REACTOME UNBLOCKING OF NMDA RECEPTOR GLUTAMATE BINDING AND ACTIVATION 1514All SZGR 2.0 genes in this pathway
REACTOME CREB PHOSPHORYLATION THROUGH THE ACTIVATION OF CAMKII 1514All SZGR 2.0 genes in this pathway
REACTOME MITOTIC G2 G2 M PHASES 8150All SZGR 2.0 genes in this pathway
ONKEN UVEAL MELANOMA UP 783507All SZGR 2.0 genes in this pathway
WILCOX RESPONSE TO PROGESTERONE DN 6644All SZGR 2.0 genes in this pathway
DOANE RESPONSE TO ANDROGEN DN 241146All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
AKL HTLV1 INFECTION DN 6841All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 UP 418263All SZGR 2.0 genes in this pathway
NAGASHIMA NRG1 SIGNALING DN 5835All SZGR 2.0 genes in this pathway
RODRIGUES THYROID CARCINOMA POORLY DIFFERENTIATED DN 805505All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR DN 6439All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR DN 7550All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 5 6WK DN 13797All SZGR 2.0 genes in this pathway
MCBRYAN PUBERTAL BREAST 6 7WK UP 197135All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
APPIERTO RESPONSE TO FENRETINIDE UP 3826All SZGR 2.0 genes in this pathway
FARMER BREAST CANCER APOCRINE VS BASAL 330217All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 COMMON DN 483336All SZGR 2.0 genes in this pathway
BUYTAERT PHOTODYNAMIC THERAPY STRESS UP 811508All SZGR 2.0 genes in this pathway
LOPEZ MBD TARGETS 957597All SZGR 2.0 genes in this pathway
KOYAMA SEMA3B TARGETS DN 411249All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
NIKOLSKY BREAST CANCER 7Q21 Q22 AMPLICON 7633All SZGR 2.0 genes in this pathway
NIKOLSKY MUTATED AND AMPLIFIED IN BREAST CANCER 9460All SZGR 2.0 genes in this pathway
DING LUNG CANCER EXPRESSION BY COPY NUMBER 10062All SZGR 2.0 genes in this pathway
NING CHRONIC OBSTRUCTIVE PULMONARY DISEASE DN 12179All SZGR 2.0 genes in this pathway
SHEPARD CRUSH AND BURN MUTANT DN 185111All SZGR 2.0 genes in this pathway
MATSUDA NATURAL KILLER DIFFERENTIATION 475313All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE INCIPIENT UP 390242All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL LONG TERM 302191All SZGR 2.0 genes in this pathway
KAYO AGING MUSCLE UP 244165All SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE UP 16911088All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
ZHANG BREAST CANCER PROGENITORS UP 425253All SZGR 2.0 genes in this pathway
ICHIBA GRAFT VERSUS HOST DISEASE D7 UP 10767All SZGR 2.0 genes in this pathway
TAVAZOIE METASTASIS 10868All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 2 8650All SZGR 2.0 genes in this pathway
IKEDA MIR133 TARGETS UP 4327All SZGR 2.0 genes in this pathway
PLASARI TGFB1 SIGNALING VIA NFIC 1HR DN 10677All SZGR 2.0 genes in this pathway
FOSTER KDM1A TARGETS DN 211119All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway
ZWANG EGF INTERVAL DN 214124All SZGR 2.0 genes in this pathway