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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: 28695

FusionGeneSummary for PRKAR1A_RARA

check button Fusion gene summary
Fusion gene informationFusion gene name: PRKAR1A_RARA
Fusion gene ID: 28695
HgeneTgene
Gene symbol

PRKAR1A

RARA

Gene ID

5573

5914

Gene nameprotein kinase cAMP-dependent type I regulatory subunit alpharetinoic acid receptor alpha
SynonymsACRDYS1|ADOHR|CAR|CNC|CNC1|PKR1|PPNAD1|PRKAR1|TSE1NR1B1|RAR
Cytomap

17q24.2

17q21.2

Type of geneprotein-codingprotein-coding
DescriptioncAMP-dependent protein kinase type I-alpha regulatory subunitCarney complex type 1cAMP-dependent protein kinase regulatory subunit RIalphacAMP-dependent protein kinase type I-alpha regulatory chainprotein kinase A type 1a regulatory subunitprotein kiretinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2
Modification date2018052320180523
UniProtAcc

P10644

P10276

Ensembl transtripts involved in fusion geneENST00000358598, ENST00000392711, 
ENST00000589228, ENST00000536854, 
ENST00000586397, ENST00000588188, 
ENST00000254066, ENST00000394089, 
ENST00000425707, ENST00000394086, 
ENST00000394081, ENST00000420042, 
Fusion gene scores* DoF score9 X 10 X 4=36018 X 16 X 10=2880
# samples 1242
** MAII scorelog2(12/360*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(42/2880*10)=-2.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PRKAR1A [Title/Abstract] AND RARA [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgenePRKAR1A

GO:2000480

negative regulation of cAMP-dependent protein kinase activity

21812984

TgeneRARA

GO:0007165

signal transduction

2825025

TgeneRARA

GO:0030853

negative regulation of granulocyte differentiation

19917671

TgeneRARA

GO:0032689

negative regulation of interferon-gamma production

18416830

TgeneRARA

GO:0032720

negative regulation of tumor necrosis factor production

18416830

TgeneRARA

GO:0032736

positive regulation of interleukin-13 production

18416830

TgeneRARA

GO:0032753

positive regulation of interleukin-4 production

18416830

TgeneRARA

GO:0032754

positive regulation of interleukin-5 production

18416830

TgeneRARA

GO:0045630

positive regulation of T-helper 2 cell differentiation

18416830

TgeneRARA

GO:0045892

negative regulation of transcription, DNA-templated

20080953

TgeneRARA

GO:0045893

positive regulation of transcription, DNA-templated

18845237|19850744|20080953

TgeneRARA

GO:0045944

positive regulation of transcription by RNA polymerase II

19850744

TgeneRARA

GO:0071300

cellular response to retinoic acid

19917671

TgeneRARA

GO:0071391

cellular response to estrogen stimulus

20080953


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
ChiTaRS3.1EF428111PRKAR1Achr17

66511717

+RARAchr17

38504566

+
ChiTaRS3.1EF428110PRKAR1Achr17

66518996

+RARAchr17

38504566

+
* 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-shitENST00000358598ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000358598ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000392711ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000392711ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000589228ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000589228ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000536854ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000536854ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000586397ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000586397ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000588188ENST00000254066PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000588188ENST00000394089PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000425707PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000394086PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000394081PRKAR1Achr17

66511717

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000420042PRKAR1Achr17

66511717

+RARAchr17

38504566

+
Frame-shitENST00000358598ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000358598ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000358598ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000392711ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000392711ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000392711ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000589228ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000589228ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000589228ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000536854ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000536854ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000536854ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000586397ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000586397ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000586397ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000588188ENST00000254066PRKAR1Achr17

66518996

+RARAchr17

38504566

+
Frame-shitENST00000588188ENST00000394089PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000425707PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000394086PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000394081PRKAR1Achr17

66518996

+RARAchr17

38504566

+
5CDS-intronENST00000588188ENST00000420042PRKAR1Achr17

66518996

+RARAchr17

38504566

+

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FusionProtFeatures for PRKAR1A_RARA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRKAR1A

P10644

RARA

P10276

Regulatory subunit of the cAMP-dependent protein kinasesinvolved in cAMP signaling in cells. {ECO:0000269|PubMed:16491121,ECO:0000269|PubMed:20215566, ECO:0000269|PubMed:26405036}. Receptor for retinoic acid. Retinoic acid receptors bindas heterodimers to their target response elements in response totheir ligands, all-trans or 9-cis retinoic acid, and regulate geneexpression in various biological processes. The RXR/RARheterodimers bind to the retinoic acid response elements (RARE)composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In theabsence of ligand, the RXR-RAR heterodimers associate with amultiprotein complex containing transcription corepressors thatinduce histone acetylation, chromatin condensation andtranscriptional suppression. On ligand binding, the corepressorsdissociate from the receptors and associate with the coactivatorsleading to transcriptional activation. RARA plays an essentialrole in the regulation of retinoic acid-induced germ celldevelopment during spermatogenesis. Has a role in the survival ofearly spermatocytes at the beginning prophase of meiosis. InSertoli cells, may promote the survival and development of earlymeiotic prophase spermatocytes. In concert with RARG, required forskeletal growth, matrix homeostasis and growth plate function (Bysimilarity). {ECO:0000250|UniProtKB:P11416,ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19850744,ECO:0000269|PubMed:20215566}.

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 PRKAR1A_RARA


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 PRKAR1A_RARA


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
PRKAR1APRKAR1B, AKAP1, MYO7A, AKAP10, C2orf88, PLEKHF2, PYCARD, NPRL2, UBE2M, NUAK1, MCRS1, PRKACA, PRKAR1A, AKAP4, ARFGEF2, ARFGEF1, EGFR, GRB2, PRKX, AKAP11, GABARAPL1, WNK1, UBC, PJA2, CBS, NELL2, C2orf44, BAHD1, ZBED1, MAPK6, TAB1, ELAVL1, SLC2A4, CUL3, PATZ1, PRPF31, SAFB, HSP90AA4P, MEN1, SLC38A5, SMURF1, PRPF40A, SMAD2, CDK2, CCNE1, RFC2, PPP1CA, NPM1, SOX2, HIVEP1, CAPN11, SETD7, SET, DYRK1B, DYRK1A, GSK3B, ARPC3, PFDN5, PRKACB, AGO2, AGO3, CEP250, MAPT, RAF1, CUL7, CCDC8, ILK, MTOR, BTRC, STOML2, PRKACG, PALM2-AKAP2, AKAP3, GPR161, ANKRD26, FRMD5, IFI16, XPO1, VAPA, VAPB, PRKAR2B, IQCB1, YWHAZRARANRBF2, ZBTB16, MECR, RXRG, RXRB, NCOA6, GADD45G, GADD45A, NRIP1, KAT2B, HDAC3, HDAC4, TDG, PML, TRIP4, KDM5A, RXRA, POU2F1, NCOR2, NR0B2, BAG1, TADA3, NCOR1, NKX2-1, TRIM24, IRX4, SP1, NPAS2, CLOCK, ARNTL, NR2E3, CCND3, NCOA2, SRC, AJUBA, LIMD1, WTIP, SKI, HR, PIN1, SUV39H1, PSMC5, EP300, PARP1, MED6, TOP2B, SAP130, HNRNPU, RFC4, NPM1, MRTO4, SNRNP40, MED1, NCOA1, HMGA1, RUVBL1, RUNX1, SIAH1, RARA, HDAC2, NCOA3, CREBBP, LRIF1, KLF5, SMARCD3, ARID1A, SPI1, PRDX6, NR1H2, ITGB1BP2, MED25, MAPK6, FOXO1, MAPK1, TRIM32, PHF8, TNIP1, HACE1, SQSTM1, UBQLN1, ARID5A, UBE3A, PRAM1, FAS, PRAME, TBL1XR1, SUZ12, EZH2, USP7, TMEM54, MMS19, AKT1, FN1, WWOX, E2F1, MBD3, MTA2, CBX5, CEBPA, HDAC1, NSD1, TEKT4, SNW1, SIRT1, ACTN4, SRF, MDM2, ZNF131, RARG, RARB, TRIM25


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


Top

RelatedDrugs for PRKAR1A_RARA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRARAP10276DB00210AdapaleneRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00459AcitretinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00982IsotretinoinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00523AlitretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00799TazaroteneRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00755TretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for PRKAR1A_RARA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRKAR1AC3276228ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE6UNIPROT
HgenePRKAR1AC2607929Carney Complex, Type 13ORPHANET;UNIPROT
HgenePRKAR1AC0001627Congenital adrenal hyperplasia1CTD_human
HgenePRKAR1AC0010481Cushing Syndrome1CTD_human
HgenePRKAR1AC0023487Acute Promyelocytic Leukemia1CTD_human;ORPHANET
HgenePRKAR1AC3887949Apparent mineralocorticoid excess1CTD_human
TgeneRARAC0023487Acute Promyelocytic Leukemia22CTD_human;HPO;ORPHANET
TgeneRARAC0036341Schizophrenia3PSYGENET
TgeneRARAC0005586Bipolar Disorder1PSYGENET
TgeneRARAC0010701Phyllodes Tumor1CTD_human
TgeneRARAC0085183Neoplasms, Second Primary1CTD_human
TgeneRARAC0149940Sciatic Neuropathy1CTD_human
TgeneRARAC0206650Fibroadenoma1CTD_human
TgeneRARAC0525045Mood Disorders1PSYGENET
TgeneRARAC1458155Mammary Neoplasms1CTD_human
TgeneRARAC2239176Liver carcinoma1CTD_human