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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:ARHGDIA-ACVRL1 (FusionGDB2 ID:6159)

Fusion Gene Summary for ARHGDIA-ACVRL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGDIA-ACVRL1
Fusion gene ID: 6159
HgeneTgene
Gene symbol

ARHGDIA

ACVRL1

Gene ID

396

94

Gene nameRho GDP dissociation inhibitor alphaactivin A receptor like type 1
SynonymsGDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I
Cytomap

17q25.3

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionrho GDP-dissociation inhibitor 1GDP-dissociation inhibitor, aplysia RAS-related 1Rho GDP dissociation inhibitor (GDI) alphaepididymis secretory sperm binding protein Li 47eserine/threonine-protein kinase receptor R3TGF-B superfamily receptor type Iactivin A receptor type II-like 1activin A receptor type ILactivin A receptor, type II-like kinase 1
Modification date2020032720200329
UniProtAcc

P52565

P37023

Ensembl transtripts involved in fusion geneENST00000269321, ENST00000582520, 
ENST00000400721, ENST00000541078, 
ENST00000580685, ENST00000581876, 
ENST00000584461, 		ENST00000419526, 
ENST00000550683, ENST00000388922, 
ENST00000550084, 
Fusion gene scores* DoF score7 X 4 X 4=1127 X 5 X 6=210
# samples 78
** MAII scorelog2(7/112*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/210*10)=-1.39231742277876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGDIA [Title/Abstract] AND ACVRL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGDIA(79825598)-ACVRL1(52306155), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneACVRL1

GO:0006468

protein phosphorylation

12065756

TgeneACVRL1

GO:0007165

signal transduction

15702480

TgeneACVRL1

GO:0007179

transforming growth factor beta receptor signaling pathway

15702480

TgeneACVRL1

GO:0010596

negative regulation of endothelial cell migration

17068149

TgeneACVRL1

GO:0030308

negative regulation of cell growth

17068149

TgeneACVRL1

GO:0030513

positive regulation of BMP signaling pathway

17068149

TgeneACVRL1

GO:0045893

positive regulation of transcription, DNA-templated

12393874

TgeneACVRL1

GO:0045944

positive regulation of transcription by RNA polymerase II

19366699

TgeneACVRL1

GO:0071560

cellular response to transforming growth factor beta stimulus

19494318


check buttonFusion gene breakpoints across ARHGDIA (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ACVRL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4SARCTCGA-DX-A3LY-01BARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+


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Fusion Gene ORF analysis for ARHGDIA-ACVRL1

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-5UTRENST00000269321ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-5UTRENST00000269321ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-5UTRENST00000582520ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-5UTRENST00000582520ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-intronENST00000269321ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-intronENST00000269321ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-intronENST00000582520ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
5CDS-intronENST00000582520ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000400721ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000400721ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000541078ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000541078ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000580685ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000580685ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000581876ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000581876ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000584461ENST00000419526ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-5UTRENST00000584461ENST00000550683ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000400721ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000400721ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000541078ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000541078ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000580685ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000580685ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000581876ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000581876ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000584461ENST00000388922ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+
intron-intronENST00000584461ENST00000550084ARHGDIAchr17

79825598

-ACVRL1chr12

52306155

+

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 ARHGDIA-ACVRL1


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)
ARHGDIAchr1779825596-ACVRL1chr1252306154+0.0153356190.9846644
ARHGDIAchr1779825596-ACVRL1chr1252306154+0.0153356190.9846644

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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 ARHGDIA-ACVRL1


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/:79825598/:52306155)
- 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
ARHGDIA

P52565

ACVRL1

P37023

FUNCTION: Controls Rho proteins homeostasis. Regulates the GDP/GTP exchange reaction of the Rho proteins by inhibiting the dissociation of GDP from them, and the subsequent binding of GTP to them. Retains Rho proteins such as CDC42, RAC1 and RHOA in an inactive cytosolic pool, regulating their stability and protecting them from degradation. Actively involved in the recycling and distribution of activated Rho GTPases in the cell, mediates extraction from membranes of both inactive and activated molecules due its exceptionally high affinity for prenylated forms. Through the modulation of Rho proteins, may play a role in cell motility regulation. In glioma cells, inhibits cell migration and invasion by mediating the signals of SEMA5A and PLXNB3 that lead to inactivation of RAC1. {ECO:0000269|PubMed:20400958, ECO:0000269|PubMed:23434736}.FUNCTION: Type I receptor for TGF-beta family ligands BMP9/GDF2 and BMP10 and important regulator of normal blood vessel development. On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. May bind activin as well. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562, ECO:0000269|PubMed:26176610}.

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 ARHGDIA-ACVRL1


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 ARHGDIA-ACVRL1


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 ARHGDIA-ACVRL1


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 ARHGDIA-ACVRL1


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