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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: 647

FusionGeneSummary for ACVR1B_PCBP2

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR1B_PCBP2
Fusion gene ID: 647
HgeneTgene
Gene symbol

ACVR1B

PCBP2

Gene ID

91

5094

Gene nameactivin A receptor type 1Bpoly(rC) binding protein 2
SynonymsACTRIB|ACVRLK4|ALK4|SKR2HNRNPE2|HNRPE2|hnRNP-E2
Cytomap

12q13.13

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2poly(rC)-binding protein 2alpha-CP2heterogeneous nuclear ribonucleoprotein E2heterogenous nuclear ribonucleoprotein E2hnRNP E2
Modification date2018052320180522
UniProtAcc

P36896

Q15366

Ensembl transtripts involved in fusion geneENST00000257963, ENST00000541224, 
ENST00000426655, ENST00000415850, 
ENST00000542485, ENST00000563121, 
ENST00000359282, ENST00000603815, 
ENST00000437231, ENST00000447282, 
ENST00000549863, ENST00000359462, 
ENST00000546463, ENST00000552296, 
ENST00000552819, ENST00000455667, 
ENST00000439930, ENST00000548933, 
ENST00000541275, 
Fusion gene scores* DoF score5 X 4 X 3=6014 X 14 X 7=1372
# samples 515
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(15/1372*10)=-3.19324607567693
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACVR1B [Title/Abstract] AND PCBP2 [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
HgeneACVR1B

GO:0000082

G1/S transition of mitotic cell cycle

11117535

HgeneACVR1B

GO:0006355

regulation of transcription, DNA-templated

8622651|12665502

HgeneACVR1B

GO:0006468

protein phosphorylation

12065756

HgeneACVR1B

GO:0007165

signal transduction

8622651|12665502

HgeneACVR1B

GO:0018107

peptidyl-threonine phosphorylation

18039968

HgeneACVR1B

GO:0030308

negative regulation of cell growth

11117535

HgeneACVR1B

GO:0032924

activin receptor signaling pathway

9892009

HgeneACVR1B

GO:0032927

positive regulation of activin receptor signaling pathway

16720724

HgeneACVR1B

GO:0045648

positive regulation of erythrocyte differentiation

9032295

HgeneACVR1B

GO:0046777

protein autophosphorylation

18039968

HgeneACVR1B

GO:1901165

positive regulation of trophoblast cell migration

21356369

TgenePCBP2

GO:0039694

viral RNA genome replication

12414943

TgenePCBP2

GO:0075522

IRES-dependent viral translational initiation

12414943


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-B6-A0WX-01AACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
* 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-shiftENST00000257963ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000257963ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000541224ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000426655ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
Frame-shiftENST00000415850ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000542485ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000359282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000603815ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000437231ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000447282ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000549863ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000359462ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000546463ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000552296ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000552819ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000455667ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000439930ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000548933ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+
intron-3CDSENST00000563121ENST00000541275ACVR1Bchr12

52345618

+PCBP2chr12

53849669

+

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FusionProtFeatures for ACVR1B_PCBP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACVR1B

P36896

PCBP2

Q15366

Transmembrane serine/threonine kinase activin type-1receptor forming an activin receptor complex with activin receptortype-2 (ACVR2A or ACVR2B). Transduces the activin signal from thecell surface to the cytoplasm and is thus regulating a manyphysiological and pathological processes including neuronaldifferentiation and neuronal survival, hair follicle developmentand cycling, FSH production by the pituitary gland, wound healing,extracellular matrix production, immunosuppression andcarcinogenesis. Activin is also thought to have a paracrine orautocrine role in follicular development in the ovary. Within thereceptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as aprimary activin receptors whereas the type-1 receptors like ACVR1Bact as downstream transducers of activin signals. Activin binds totype-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 thenphosphorylates and activates the type-1 receptor such as ACVR1B.Once activated, the type-1 receptor binds and phosphorylates theSMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activinreceptor and subsequent phosphorylation, SMAD2 and SMAD3 arereleased into the cytoplasm where they interact with the commonpartner SMAD4. This SMAD complex translocates into the nucleuswhere it mediates activin-induced transcription. Inhibitory SMAD7,which is recruited to ACVR1B through FKBP1A, can prevent theassociation of SMAD2 and SMAD3 with the activin receptor complex,thereby blocking the activin signal. Activin signal transductionis also antagonized by the binding to the receptor of inhibin-Bvia the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2.{ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945,ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172,ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295,ECO:0000269|PubMed:9892009}.

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 ACVR1B_PCBP2


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 ACVR1B_PCBP2


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
ACVR1BBMPR2, ACVR2B, INHBB, INHBA, SMAD7, SMAD2, SMAD3, ACVR2A, ACVR1, TDGF1, SNX2, SNX1, FKBP1A, SMURF1, TSC22D1, NEDD4L, IGSF1, ELAVL1, BAMBI, SMAD6, HSP90AA1, PEG10, PRKACB, BAG6, OS9, RXRA, SPINT2, TSPAN3, TGFBR2, TMEM30A, TSPAN17, HEPACAM2, OTUB1, NTRK1, TSNAX, VPS16, ZNF644, XIAP, GPR114, TMEM30B, MRAP2PCBP2PCBP2, PTBP1, HNRNPK, HNRNPL, MEPCE, CDK9, RUVBL1, RUVBL2, POLR3H, KAT2A, H2AFX, UBC, HDAC5, PSMA3, HNRNPD, PABPC1, ELAVL1, MAVS, ITCH, IFIH1, CUL3, CUL2, CDK2, CUL1, COPS5, QKI, PCBP1, FBXO6, EEF1A1, PPIB, BARD1, PAXIP1, FN1, VCAM1, SF3B2, SLU7, WDR83, WDR77, NKAP, NOS2, PRPF40A, BRCA1, UBL4A, ITGA4, CD81, IGSF8, HMGA1, HMGA2, ADRB2, CASK, TARDBP, CEP250, HUWE1, FUS, SNRPA, PHF6, CUL7, OBSL1, CCDC8, EED, FTH1, HNRNPA1, ACAT2, ANXA2, ARF4, ARF5, CCDC58, DAZAP1, FUBP1, FUBP3, GBA, GNB2L1, GNPNAT1, KIF2C, LGALS1, LGALS3, MAGI3, PIN1, SCYL2, STIP1, TIA1, TIAL1, TRIP6, UBE2M, NTRK1, MCM2, CDC5L, CDH1, CYLD, URI1


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 ACVR1B_PCBP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for ACVR1B_PCBP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource