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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 318

FusionGeneSummary for ACACA_PRKCA

check button Fusion gene summary
Fusion gene informationFusion gene name: ACACA_PRKCA
Fusion gene ID: 318
HgeneTgene
Gene symbol

ACACA

PRKCA

Gene ID

31

5578

Gene nameacetyl-CoA carboxylase alphaprotein kinase C alpha
SynonymsACAC|ACACAD|ACC|ACC1|ACCAAAG6|PKC-alpha|PKCA|PRKACA
Cytomap

17q12

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionacetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alphaprotein kinase C alpha typePKC-Aaging-associated gene 6
Modification date2018052220180523
UniProtAcc

Q13085

P17252

Ensembl transtripts involved in fusion geneENST00000353139, ENST00000360679, 
ENST00000394406, ENST00000335166, 
ENST00000416895, ENST00000361253, 
ENST00000588142, ENST00000589665, 
ENST00000413366, ENST00000583361, 
Fusion gene scores* DoF score23 X 13 X 11=328916 X 8 X 6=768
# samples 2115
** MAII scorelog2(21/3289*10)=-3.96918777516928
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/768*10)=-2.35614381022528
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACACA [Title/Abstract] AND PRKCA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgenePRKCA

GO:0006468

protein phosphorylation

10770950

TgenePRKCA

GO:0035408

histone H3-T6 phosphorylation

20228790

TgenePRKCA

GO:0043536

positive regulation of blood vessel endothelial cell migration

20011604

TgenePRKCA

GO:0090330

regulation of platelet aggregation

12724315


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-3C-AALI-01AACACAchr17

35468466

-PRKCAchr17

64637473

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shiftENST00000353139ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
5CDS-intronENST00000353139ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
Frame-shiftENST00000360679ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
5CDS-intronENST00000360679ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
Frame-shiftENST00000394406ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
5CDS-intronENST00000394406ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
Frame-shiftENST00000335166ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
5CDS-intronENST00000335166ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-3CDSENST00000416895ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-intronENST00000416895ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
Frame-shiftENST00000361253ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
5CDS-intronENST00000361253ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-3CDSENST00000588142ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-intronENST00000588142ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-3CDSENST00000589665ENST00000413366ACACAchr17

35468466

-PRKCAchr17

64637473

+
intron-intronENST00000589665ENST00000583361ACACAchr17

35468466

-PRKCAchr17

64637473

+

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FusionProtFeatures for ACACA_PRKCA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACACA

Q13085

PRKCA

P17252

Calcium-activated, phospholipid- and diacylglycerol(DAG)-dependent serine/threonine-protein kinase that is involvedin positive and negative regulation of cell proliferation,apoptosis, differentiation, migration and adhesion, tumorigenesis,cardiac hypertrophy, angiogenesis, platelet function andinflammation, by directly phosphorylating targets such as RAF1,BCL2, CSPG4, TNNT2/CTNT, or activating signaling cascade involvingMAPK1/3 (ERK1/2) and RAP1GAP. Involved in cell proliferation andcell growth arrest by positive and negative regulation of the cellcycle. Can promote cell growth by phosphorylating and activatingRAF1, which mediates the activation of the MAPK/ERK signalingcascade, and/or by up-regulating CDKN1A, which facilitates activecyclin-dependent kinase (CDK) complex formation in glioma cells.In intestinal cells stimulated by the phorbol ester PMA, cantrigger a cell cycle arrest program which is associated with theaccumulation of the hyper-phosphorylated growth-suppressive formof RB1 and induction of the CDK inhibitors CDKN1A and CDKN1B.Exhibits anti-apoptotic function in glioma cells and protects themfrom apoptosis by suppressing the p53/TP53-mediated activation ofIGFBP3, and in leukemia cells mediates anti-apoptotic action byphosphorylating BCL2. During macrophage differentiation induced bymacrophage colony-stimulating factor (CSF1), is translocated tothe nucleus and is associated with macrophage development. Afterwounding, translocates from focal contacts to lamellipodia andparticipates in the modulation of desmosomal adhesion. Plays arole in cell motility by phosphorylating CSPG4, which inducesassociation of CSPG4 with extensive lamellipodia at the cellperiphery and polarization of the cell accompanied by increases incell motility. During chemokine-induced CD4(+) T cell migration,phosphorylates CDC42-guanine exchange factor DOCK8 resulting inits dissociation from LRCH1 and the activation of GTPase CDC42(PubMed:28028151). Is highly expressed in a number of cancer cellswhere it can act as a tumor promoter and is implicated inmalignant phenotypes of several tumors such as gliomas and breastcancers. Negatively regulates myocardial contractility andpositively regulates angiogenesis, platelet aggregation andthrombus formation in arteries. Mediates hypertrophic growth ofneonatal cardiomyocytes, in part through a MAPK1/3 (ERK1/2)-dependent signaling pathway, and upon PMA treatment, is requiredto induce cardiomyocyte hypertrophy up to heart failure and death,by increasing protein synthesis, protein-DNA ratio and cellsurface area. Regulates cardiomyocyte function by phosphorylatingcardiac troponin T (TNNT2/CTNT), which induces significantreduction in actomyosin ATPase activity, myofilament calciumsensitivity and myocardial contractility. In angiogenesis, isrequired for full endothelial cell migration, adhesion tovitronectin (VTN), and vascular endothelial growth factor A(VEGFA)-dependent regulation of kinase activation and vasculartube formation. Involved in the stabilization of VEGFA mRNA atpost-transcriptional level and mediates VEGFA-induced cellproliferation. In the regulation of calcium-induced plateletaggregation, mediates signals from the CD36/GP4 receptor forgranule release, and activates the integrin heterodimer ITGA2B-ITGB3 through the RAP1GAP pathway for adhesion. During response tolipopolysaccharides (LPS), may regulate selective LPS-inducedmacrophage functions involved in host defense and inflammation.But in some inflammatory responses, may negatively regulate NF-kappa-B-induced genes, through IL1A-dependent induction of NF-kappa-B inhibitor alpha (NFKBIA/IKBA). Upon stimulation with 12-O-tetradecanoylphorbol-13-acetate (TPA), phosphorylates EIF4G1,which modulates EIF4G1 binding to MKNK1 and may be involved in theregulation of EIF4E phosphorylation. Phosphorylates KIT, leadingto inhibition of KIT activity. Phosphorylates ATF2 which promotescooperation between ATF2 and JUN, activating transcription.{ECO:0000269|PubMed:10848585, ECO:0000269|PubMed:11909826,ECO:0000269|PubMed:12724315, ECO:0000269|PubMed:12832403,ECO:0000269|PubMed:15016832, ECO:0000269|PubMed:15504744,ECO:0000269|PubMed:15526160, ECO:0000269|PubMed:18056764,ECO:0000269|PubMed:19176525, ECO:0000269|PubMed:21576361,ECO:0000269|PubMed:23990668, ECO:0000269|PubMed:28028151,ECO:0000269|PubMed:9738012, ECO:0000269|PubMed:9830023,ECO:0000269|PubMed:9873035, ECO:0000269|PubMed:9927633}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ACACA_PRKCA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ACACA_PRKCA


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ACACABRCA1, CHGB, PRKAA2, MLLT3, MLLT1, NPM1, AKR1B10, SIRT1, ARRB1, SIRT7, UBE2N, ATXN1, INPPL1, CBL, UBASH3B, PIK3R2, SHC1, AP2M1, ERCC6L, IKBKAP, CA9, VCP, FN1, IFIT1, FBXO6, CCT3, COPB1, DCAF6, EPB41L1, KIF5B, NUP50, PSMB7, SMEK1, EEF2K, STK25, PHKG2, ADRBK1, CSNK1A1, CSNK1E, PRKAA1, STK3, ILK, RPS6KA1, RIOK2, PRKAB1, PRKAG1, FUS, ENO1, MOV10, NXF1, MDM2, SUZ12, RNF2, BMI1, EGFR, SOCS6, SGCZ, C20orf195, PSG1, ARHGAP25, LIPH, IARS, PSMB2, PSMC6, PSMD2, NTRK1, PTEN, NDUFA4, C15orf48, COQ9, ZNF746, OAS2, LGALS3BP, C4orf26, TRIM25PRKCAATP1A1, HABP4, HAND1, HAND2, FSCN1, EGFR, SLC1A1, PLD1, KLF5, GABRB3, MGMT, PLD2, PICK1, GRM7, AKAP12, GJA1, YWHAG, C1QBP, AVPR1A, AVPR1B, GSK3B, RGS2, OGG1, YWHAZ, TIAM1, GNB2L1, ITGB1, AFAP1, EZR, DLG4, LMNB1, LMNA, CD53, CD9, TRIM41, HMGA1, HMGA2, TNP1, TNP2, HIST1H3A, CHUK, IKBKB, NFE2L2, PRKCA, MTOR, TRPV6, AKAP5, DDX58, HIST1H1A, HIST1H1B, HIST1H1C, HIST1H1D, HIST1H1E, HIST1H1T, EIF4EBP1, MBP, HDAC6, CTNNB1, NR1H2, ELAVL1, HIST3H3, ANXA6, LNX1, LNX2, GLI3, IBTK, SCRIB, CBL, TOP2A, RICTOR, MAPKAP1, SELL, PFKFB1, NCF1, ACIN1, DSP, RALBP1, PPP1R14A, PLCG2, VTN, SDC2, ITGB2, HSP90AA1, GSK3A, GRIN1, GRIN2B, CASR, RRAD, NFKBIA, HMGN1, HMGN2, NPM1, NUMB, FBXO25, CDKN2A, PSMB4, SACM1L, PTGIR, TBXA2R, CYP3A4, RBCK1, RNF31, MOV10, NXF1, EP300, PPARG, CCDC8, EIF2S1, SLC25A41, SLC25A11, TAS2R7, TMEM185A, JSRP1, CCNL2, VPS4B, UQCRB, WWC2, WWC3, WWC1, MAPK7, NTRK1, NOXA1, GRM5, AKAP13, STXBP1, SPAG1, BTG2, CACYBP, SLC9A3R1, SLC9A3R2, KIF2A, KIF11, FAS, NF2, PLA2G4A, SMURF1, PRKCB, PRKCG, PRKCH, PIP5K1A, SHCBP1, GCLM, STARD7, CYP2S1, FGD4, DUSP11, FBXO21, HR, PPM1A, ATM, TES


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ACACA_PRKCA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACACAQ13085DB00121BiotinAcetyl-CoA carboxylase 1small moleculeapproved|investigational|nutraceutical
TgenePRKCAP17252DB00675TamoxifenProtein kinase C alpha typesmall moleculeapproved
TgenePRKCAP17252DB05013Ingenol MebutateProtein kinase C alpha typesmall moleculeapproved

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RelatedDiseases for ACACA_PRKCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACACAC0018801Heart failure1CTD_human
HgeneACACAC2239176Liver carcinoma1CTD_human
TgenePRKCAC0036341Schizophrenia2PSYGENET
TgenePRKCAC0011853Diabetes Mellitus, Experimental1CTD_human
TgenePRKCAC0018800Cardiomegaly1CTD_human
TgenePRKCAC0021841Intestinal Neoplasms1CTD_human
TgenePRKCAC0032617Polyuria1CTD_human
TgenePRKCAC0033975Psychotic Disorders1PSYGENET
TgenePRKCAC0036337Schizoaffective Disorder1PSYGENET
TgenePRKCAC0162283Nephrogenic Diabetes Insipidus1CTD_human
TgenePRKCAC0349204Nonorganic psychosis1PSYGENET