FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:BAZ2A-ACVR1B (FusionGDB2 ID:9035)

Fusion Gene Summary for BAZ2A-ACVR1B

check button Fusion gene summary
Fusion gene informationFusion gene name: BAZ2A-ACVR1B
Fusion gene ID: 9035
HgeneTgene
Gene symbol

BAZ2A

ACVR1B

Gene ID

11176

91

Gene namebromodomain adjacent to zinc finger domain 2Aactivin A receptor type 1B
SynonymsTIP5|WALp3ACTRIB|ACVRLK4|ALK4|SKR2
Cytomap

12q13.3

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionbromodomain adjacent to zinc finger domain protein 2ATTF-I interacting peptide 5TTF-I-interacting protein 5transcription termination factor I-interacting protein 5activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2
Modification date2020031320200313
UniProtAcc

Q9UIF9

P36896

Ensembl transtripts involved in fusion geneENST00000379441, ENST00000551812, 
ENST00000179765, ENST00000549884, 
ENST00000553222, 		ENST00000542485, 
ENST00000563121, ENST00000257963, 
ENST00000415850, ENST00000426655, 
ENST00000541224, 
Fusion gene scores* DoF score16 X 18 X 8=23046 X 5 X 6=180
# samples 206
** MAII scorelog2(20/2304*10)=-3.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAZ2A [Title/Abstract] AND ACVR1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAZ2A(57029966)-ACVR1B(52369049), # samples:1
BAZ2A(57023909)-ACVR1B(52369049), # samples:1
Anticipated loss of major functional domain due to fusion event.BAZ2A-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BAZ2A-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BAZ2A-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BAZ2A-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
BAZ2A-ACVR1B seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BAZ2A-ACVR1B seems lost the major protein functional domain in Tgene partner, which is a kinase 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
TgeneACVR1B

GO:0000082

G1/S transition of mitotic cell cycle

11117535

TgeneACVR1B

GO:0006355

regulation of transcription, DNA-templated

8622651|12665502

TgeneACVR1B

GO:0006468

protein phosphorylation

12065756

TgeneACVR1B

GO:0007165

signal transduction

8622651|12665502

TgeneACVR1B

GO:0018107

peptidyl-threonine phosphorylation

18039968

TgeneACVR1B

GO:0030308

negative regulation of cell growth

11117535

TgeneACVR1B

GO:0032924

activin receptor signaling pathway

9892009

TgeneACVR1B

GO:0032927

positive regulation of activin receptor signaling pathway

16720724

TgeneACVR1B

GO:0045648

positive regulation of erythrocyte differentiation

9032295

TgeneACVR1B

GO:0046777

protein autophosphorylation

18039968

TgeneACVR1B

GO:1901165

positive regulation of trophoblast cell migration

21356369


check buttonFusion gene breakpoints across BAZ2A (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 ACVR1B (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
ChimerDB4LUADTCGA-67-3774-01ABAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
ChimerDB4LUADTCGA-67-3774-01ABAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+


Top

Fusion Gene ORF analysis for BAZ2A-ACVR1B

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-5UTRENST00000379441ENST00000542485BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5CDS-5UTRENST00000551812ENST00000542485BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5CDS-intronENST00000379441ENST00000563121BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5CDS-intronENST00000551812ENST00000563121BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000179765ENST00000257963BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000179765ENST00000415850BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000179765ENST00000426655BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000179765ENST00000541224BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000549884ENST00000257963BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000549884ENST00000415850BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000549884ENST00000426655BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
5UTR-3CDSENST00000549884ENST00000541224BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
5UTR-5UTRENST00000179765ENST00000542485BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-5UTRENST00000549884ENST00000542485BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
5UTR-intronENST00000179765ENST00000563121BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
5UTR-intronENST00000549884ENST00000563121BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000379441ENST00000257963BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000379441ENST00000415850BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000379441ENST00000426655BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000379441ENST00000541224BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000551812ENST00000257963BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000551812ENST00000415850BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000551812ENST00000426655BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
Frame-shiftENST00000551812ENST00000541224BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000179765ENST00000257963BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000179765ENST00000415850BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000179765ENST00000426655BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000179765ENST00000541224BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000379441ENST00000257963BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000379441ENST00000415850BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000379441ENST00000426655BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000379441ENST00000541224BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000549884ENST00000257963BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000549884ENST00000415850BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000549884ENST00000426655BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000549884ENST00000541224BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000551812ENST00000257963BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000551812ENST00000415850BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000551812ENST00000426655BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000551812ENST00000541224BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000257963BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000257963BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000415850BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000415850BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000426655BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000426655BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000541224BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-3CDSENST00000553222ENST00000541224BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000179765ENST00000542485BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000379441ENST00000542485BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000549884ENST00000542485BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000551812ENST00000542485BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000553222ENST00000542485BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-5UTRENST00000553222ENST00000542485BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-intronENST00000179765ENST00000563121BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-intronENST00000379441ENST00000563121BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-intronENST00000549884ENST00000563121BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+
intron-intronENST00000551812ENST00000563121BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-intronENST00000553222ENST00000563121BAZ2Achr12

57023909

-ACVR1Bchr12

52369049

+
intron-intronENST00000553222ENST00000563121BAZ2Achr12

57029966

-ACVR1Bchr12

52369049

+

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

Top

Fusion Genomic Features for BAZ2A-ACVR1B


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)
BAZ2Achr1257029965-ACVR1Bchr1252369048+0.0002111280.99978894
BAZ2Achr1257023908-ACVR1Bchr1252369048+1.03E-091
BAZ2Achr1257029965-ACVR1Bchr1252369048+0.0002111280.99978894
BAZ2Achr1257023908-ACVR1Bchr1252369048+1.03E-091

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%

Top

Fusion Protein Features for BAZ2A-ACVR1B


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/:57029966/:52369049)
- 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
BAZ2A

Q9UIF9

ACVR1B

P36896

FUNCTION: Essential component of the NoRC (nucleolar remodeling complex) complex, a complex that mediates silencing of a fraction of rDNA by recruiting histone-modifying enzymes and DNA methyltransferases, leading to heterochromatin formation and transcriptional silencing. In the complex, it plays a central role by being recruited to rDNA and by targeting chromatin modifying enzymes such as HDAC1, leading to repress RNA polymerase I transcription. Recruited to rDNA via its interaction with TTF1 and its ability to recognize and bind histone H4 acetylated on 'Lys-16' (H4K16ac), leading to deacetylation of H4K5ac, H4K8ac, H4K12ac but not H4K16ac. Specifically binds pRNAs, 150-250 nucleotide RNAs that are complementary in sequence to the rDNA promoter; pRNA-binding is required for heterochromatin formation and rDNA silencing (By similarity). {ECO:0000250}.FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via 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


Top

Fusion Gene Sequence for BAZ2A-ACVR1B


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.

Top

Fusion Gene PPI Analysis for BAZ2A-ACVR1B


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


Top

Related Drugs for BAZ2A-ACVR1B


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

Top

Related Diseases for BAZ2A-ACVR1B


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