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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACVR1B-GRASP (FusionGDB2 ID:HG91TG160622)

Fusion Gene Summary for ACVR1B-GRASP

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR1B-GRASP
Fusion gene ID: hg91tg160622
HgeneTgene
Gene symbol

ACVR1B

GRASP

Gene ID

91

160622

Gene nameactivin A receptor type 1Btrafficking regulator and scaffold protein tamalin
SynonymsACTRIB|ACVRLK4|ALK4|SKR2GRASP
Cytomap('ACVR1B')('GRASP')

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 R2general receptor for phosphoinositides 1-associated scaffold proteinGRP1 (general receptor for phosphoinositides 1)-associated scaffold proteingeneral receptor for phosphoinositides 1 associated scaffold protein
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000257963, ENST00000415850, 
ENST00000426655, ENST00000541224, 
ENST00000542485, ENST00000563121, 
Fusion gene scores* DoF score6 X 5 X 4=1201 X 1 X 1=1
# samples 71
** MAII scorelog2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ACVR1B [Title/Abstract] AND GRASP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACVR1B(52345618)-GRASP(52402973), # samples:1
Anticipated loss of major functional domain due to fusion event.ACVR1B-GRASP seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ACVR1B-GRASP seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
ACVR1B-GRASP seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4READTCGA-CL-4957ACVR1Bchr12

52345618

+GRASPchr12

52402973

+


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Fusion Gene ORF analysis for ACVR1B-GRASP

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
5CDS-intronENST00000257963ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000257963ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000415850ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000415850ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000426655ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000426655ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000541224ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
5CDS-intronENST00000541224ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000257963ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000257963ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000415850ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000415850ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000426655ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000426655ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000541224ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
Frame-shiftENST00000541224ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-3CDSENST00000542485ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-3CDSENST00000542485ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-3CDSENST00000563121ENST00000293662ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-3CDSENST00000563121ENST00000552963ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-intronENST00000542485ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-intronENST00000542485ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-intronENST00000563121ENST00000380039ACVR1Bchr12

52345618

+GRASPchr12

52402973

+
intron-intronENST00000563121ENST00000552049ACVR1Bchr12

52345618

+GRASPchr12

52402973

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ACVR1B-GRASP


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ACVR1Bchr1252345618+GRASPchr1252402971+3.02E-060.999997
ACVR1Bchr1252345618+GRASPchr1252402971+3.02E-060.999997


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ACVR1B-GRASP


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:52345618/:52402973)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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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Fusion Gene Sequence for ACVR1B-GRASP


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ACVR1B-GRASP


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


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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Related Drugs for ACVR1B-GRASP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACVR1B-GRASP


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