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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:ACVR1C-ACVR1B

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ACVR1C-ACVR1B
FusionPDB ID: 1894
FusionGDB2.0 ID: 1894
HgeneTgene
Gene symbol

ACVR1C

ACVR1B

Gene ID

130399

91

Gene nameactivin A receptor type 1Cactivin A receptor type 1B
SynonymsACVRLK7|ALK7ACTRIB|ACVRLK4|ALK4|SKR2
Cytomap

2q24.1

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-1CACTR-ICALK-7activin A receptor, type ICactivin receptor type ICactivin receptor-like kinase 7activin 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

Q8NER5

Main function of 5'-partner protein: FUNCTION: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. {ECO:0000269|PubMed:12063393, ECO:0000269|PubMed:15531507}.

P36896

Main function of 5'-partner protein: 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}.
Ensembl transtripts involved in fusion geneENST idsENST00000243349, ENST00000335450, 
ENST00000409680, ENST00000348328, 
ENST00000563121, ENST00000257963, 
ENST00000415850, ENST00000426655, 
ENST00000541224, ENST00000542485, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=486 X 5 X 6=180
# samples 46
** MAII scorelog2(4/48*10)=-0.263034405833794
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
Fusion gene context

PubMed: ACVR1C [Title/Abstract] AND ACVR1B [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ACVR1C [Title/Abstract] AND ACVR1B [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ACVR1C(158406673)-ACVR1B(52377782), # samples:1
Anticipated loss of major functional domain due to fusion event.ACVR1C-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACVR1C-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ACVR1C-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ACVR1C-ACVR1B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneACVR1C

GO:0001834

trophectodermal cell proliferation

15150278

HgeneACVR1C

GO:0030154

cell differentiation

15531507

HgeneACVR1C

GO:0030262

apoptotic nuclear changes

15531507

HgeneACVR1C

GO:0043065

positive regulation of apoptotic process

15150278

HgeneACVR1C

GO:1901164

negative regulation of trophoblast cell migration

21356369

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 button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:158406673/chr12:52377782)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across ACVR1C (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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.
all structure


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Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000243349ACVR1Cchr2158406673-ENST00000257963ACVR1Bchr1252377782+481111363521842496
ENST00000243349ACVR1Cchr2158406673-ENST00000541224ACVR1Bchr1252377782+195011363521842496
ENST00000243349ACVR1Cchr2158406673-ENST00000426655ACVR1Bchr1252377782+206511363521755467
ENST00000243349ACVR1Cchr2158406673-ENST00000415850ACVR1Bchr1252377782+199011363521788478
ENST00000243349ACVR1Cchr2158406673-ENST00000542485ACVR1Bchr1252377782+265811363521842496
ENST00000335450ACVR1Cchr2158406673-ENST00000257963ACVR1Bchr1252377782+4293618741324416
ENST00000335450ACVR1Cchr2158406673-ENST00000541224ACVR1Bchr1252377782+1432618741324416
ENST00000335450ACVR1Cchr2158406673-ENST00000426655ACVR1Bchr1252377782+1547618741237387
ENST00000335450ACVR1Cchr2158406673-ENST00000415850ACVR1Bchr1252377782+1472618741270398
ENST00000335450ACVR1Cchr2158406673-ENST00000542485ACVR1Bchr1252377782+2140618741324416
ENST00000409680ACVR1Cchr2158406673-ENST00000257963ACVR1Bchr1252377782+45789031521609485
ENST00000409680ACVR1Cchr2158406673-ENST00000541224ACVR1Bchr1252377782+17179031521609485
ENST00000409680ACVR1Cchr2158406673-ENST00000426655ACVR1Bchr1252377782+18329031521522456
ENST00000409680ACVR1Cchr2158406673-ENST00000415850ACVR1Bchr1252377782+17579031521555467
ENST00000409680ACVR1Cchr2158406673-ENST00000542485ACVR1Bchr1252377782+24259031521609485

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
ENST00000243349ENST00000257963ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0012663780.9987336
ENST00000243349ENST00000541224ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0046369930.995363
ENST00000243349ENST00000426655ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0031717240.99682826
ENST00000243349ENST00000415850ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0027635820.9972364
ENST00000243349ENST00000542485ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0041078710.99589217
ENST00000335450ENST00000257963ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0006180140.999382
ENST00000335450ENST00000541224ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0016092060.9983908
ENST00000335450ENST00000426655ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0012137520.9987863
ENST00000335450ENST00000415850ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0005807320.99941933
ENST00000335450ENST00000542485ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0020914410.9979086
ENST00000409680ENST00000257963ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0039036640.9960963
ENST00000409680ENST00000541224ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.005934360.99406564
ENST00000409680ENST00000426655ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0038270690.99617296
ENST00000409680ENST00000415850ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0031980250.996802
ENST00000409680ENST00000542485ACVR1Cchr2158406673-ACVR1Bchr1252377782+0.0068506550.99314934

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for ACVR1C-ACVR1B

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ACVR1Cchr2158406673ACVR1Bchr12523777821136184DLIYDVTASGSGSGLPLLVQRTIART
ACVR1Cchr2158406673ACVR1Bchr1252377782618103FTDFCNNITLHLPTGLPLLVQRTIAR
ACVR1Cchr2158406673ACVR1Bchr1252377782903173DLIYDVTASGSGSGLPLLVQRTIART

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Potential FusionNeoAntigen Information of ACVR1C-ACVR1B in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.
ACVR1C-ACVR1B_158406673_52377782.msa

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:01LPTGLPLL0.99760.94261119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:02LPTGLPLL0.99590.88471119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:03LPTGLPLL0.990.95991119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:04LPTGLPLL0.96760.98931119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:02LPTGLPLL0.96760.98931119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:01LHLPTGLPL0.99940.9922918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:24LHLPTGLPL0.99910.939918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:02LHLPTGLPL0.99880.9984918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:01LHLPTGLPL0.99850.9986918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:06LHLPTGLPL0.99790.9921918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:01LPTGLPLLV0.99720.96991120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:10LHLPTGLPL0.99630.9242918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:02LPTGLPLLV0.99620.95811120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B14:02LHLPTGLPL0.9950.9889918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B14:01LHLPTGLPL0.9950.9889918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B56:01LPTGLPLLV0.99210.88281120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:04LPTGLPLLV0.98670.97721120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:02LPTGLPLLV0.98670.97721120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:37LHLPTGLPL0.97940.929918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:17ITLHLPTGL0.97910.972716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B55:01LPTGLPLLV0.97460.81741120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:03LPTGLPLLV0.97410.91811120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:22HLPTGLPLL0.96330.87821019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:24HLPTGLPLL0.93320.86941019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:30HLPTGLPLL0.93320.86941019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:67HLPTGLPLL0.93320.86941019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:11HLPTGLPLL0.93250.88621019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:60HLPTGLPLL0.93220.86461019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:21HLPTGLPLL0.92170.90871019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:06SGLPLLVQR0.91640.79841221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:38HLPTGLPLL0.91050.881019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:27HLPTGLPLL0.90320.89511019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:04HLPTGLPLL0.90020.96841019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:16HLPTGLPLL0.89980.8631019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:35HLPTGLPLL0.8980.87271019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:13HLPTGLPLL0.89660.93221019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:03SGLPLLVQR0.89470.85531221
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:09SGLPLLVQR0.89470.85531221
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:11SGLPLLVQR0.89470.85531221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:17HLPTGLPLL0.8890.94581019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:29HLPTGLPLL0.86350.87071019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B53:01LPTGLPLLV0.85990.87511120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:02SGLPLLVQR0.84840.87921221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:20HLPTGLPLL0.84630.87391019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A33:05SGLPLLVQR0.79080.76821221
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A33:01SGLPLLVQR0.79080.76821221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:19HLPTGLPLL0.78370.71411019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:18LHLPTGLPL0.75790.9594918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B81:01LPTGLPLLV0.48810.95781120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B82:01LPTGLPLLV0.3850.87481120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B48:01LHLPTGLPL0.16120.8981918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B07:10LHLPTGLPL0.14260.5879918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:24LHLPTGLPLL0.99860.9549919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:01LHLPTGLPLL0.99830.9932919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:02LHLPTGLPLL0.99690.9984919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:01LHLPTGLPLL0.99680.9987919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:10LHLPTGLPLL0.99030.8954919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:37LHLPTGLPLL0.97680.912919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B07:10TLHLPTGLPL0.93340.6221818
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:03GSGLPLLVQR0.89030.9261121
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:09GSGLPLLVQR0.89030.9261121
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:11GSGLPLLVQR0.89030.9261121
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:24TLHLPTGLPL0.87810.9157818
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:06GSGLPLLVQR0.850.84151121
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:02GSGLPLLVQR0.84660.9371121
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:10TLHLPTGLPL0.72520.8778818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:01TLHLPTGLPL0.69790.988818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:37TLHLPTGLPL0.66010.892818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B07:10LHLPTGLPLL0.61290.6147919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:02TLHLPTGLPL0.51350.9979818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:01TLHLPTGLPL0.50350.9983818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:02HLPTGLPLLV0.25280.96971020
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:17HLPTGLPL0.98960.98881018
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:08LPTGLPLL0.9890.85691119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:12LPTGLPLL0.96760.98931119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:10LPTGLPLL0.83870.99571119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:30HLPTGLPL0.82720.98511018
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:05HLPTGLPL0.62430.99291018
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:09LHLPTGLPL0.99930.9679918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:12LHLPTGLPL0.99920.993918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:05LHLPTGLPL0.99890.9893918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C15:06ITLHLPTGL0.99840.974716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C03:07ITLHLPTGL0.99790.9935716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B78:01LPTGLPLLV0.99770.98071120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B54:01LPTGLPLLV0.99760.96611120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:07LPTGLPLLV0.99670.99681120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:07TASGSGSGL0.98970.9857615
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:19TASGSGSGL0.98940.9903615
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:08TASGSGSGL0.98910.953615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:08LPTGLPLLV0.98830.87431120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:12LPTGLPLLV0.98670.97721120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:02HLPTGLPLL0.96680.84051019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:05HLPTGLPLL0.95730.89411019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B56:04LPTGLPLLV0.93760.90811120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A33:03SGLPLLVQR0.93720.72391221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C07:29LHLPTGLPL0.93360.9785918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:01HLPTGLPLL0.93320.86941019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:07HLPTGLPLL0.9330.88911019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:01SGLPLLVQR0.92490.87171221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C07:13LHLPTGLPL0.90.9828918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C04:06HLPTGLPLL0.88990.99531019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C04:14HLPTGLPLL0.81680.9921019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:17HLPTGLPLL0.76570.99061019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C08:13TASGSGSGL0.67240.9929615
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C08:04TASGSGSGL0.67240.9929615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C07:13HLPTGLPLL0.58070.98911019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B14:03LHLPTGLPL0.52350.9666918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C07:29HLPTGLPLL0.51780.98751019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B42:01LPTGLPLLV0.48810.89691120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:30HLPTGLPLL0.48180.98761019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:10LPTGLPLLV0.46390.99341120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C08:03TASGSGSGL0.25770.9966615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B48:03LHLPTGLPL0.02860.8778918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:09LHLPTGLPLL0.99840.9731919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:05LHLPTGLPLL0.99680.991919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:07HLPTGLPLLV0.96710.84611020
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A31:01GSGLPLLVQR0.90430.93061121
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:09TLHLPTGLPL0.71330.9625818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:07LHLPTGLPLL0.56060.799919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:05TLHLPTGLPL0.49030.983818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:07TLHLPTGLPLL0.83820.7541819
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:14LPTGLPLL0.99760.88011119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:13LPTGLPLL0.99740.86021119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B78:02LPTGLPLL0.99730.98381119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:21LPTGLPLL0.99580.94851119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:09LPTGLPLL0.99480.89341119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:06LPTGLPLL0.99330.93961119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:22LPTGLPLL0.99240.73111119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:02HLPTGLPL0.99040.98881018
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:29LPTGLPLL0.98870.63621119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B59:01LPTGLPLL0.97420.72831119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:05LPTGLPLL0.97160.67431119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B55:04LPTGLPLL0.96830.83061119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:09LPTGLPLL0.96760.98931119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:03HLPTGLPL0.95010.98761018
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B67:01LPTGLPLL0.90520.99211119
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:31LHLPTGLPL0.99940.9923918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:05LHLPTGLPL0.99850.9986918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C15:02ITLHLPTGL0.99850.9661716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C15:05ITLHLPTGL0.99840.9768716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B78:02LPTGLPLLV0.99780.98661120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:22LPTGLPLLV0.99720.87641120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:14LPTGLPLLV0.99710.94261120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:13LPTGLPLLV0.99690.95141120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:09LHLPTGLPL0.99650.9754918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:09LPTGLPLLV0.99620.94741120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C15:02SGSGLPLLV0.99540.98821019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:21LPTGLPLLV0.99440.96731120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B56:05LPTGLPLLV0.99380.93091120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C15:05SGSGLPLLV0.99290.98891019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:06LPTGLPLLV0.99280.94221120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:03TASGSGSGL0.99160.9885615
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:04TASGSGSGL0.99160.9885615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:09LPTGLPLLV0.98670.97721120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B55:02LPTGLPLLV0.98240.9171120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:17TASGSGSGL0.97810.9787615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B35:13LPTGLPLLV0.97560.92071120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:05TASGSGSGL0.97460.9397615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B59:01LPTGLPLLV0.95620.95631120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:03HLPTGLPLL0.95560.921019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:29LPTGLPLLV0.95340.73761120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B56:02LPTGLPLLV0.93760.90811120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:14HLPTGLPLL0.92710.90531019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-A02:06HLPTGLPLL0.92170.90871019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B55:04LPTGLPLLV0.90930.93641120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:01SGLPLLVQR0.89470.85531221
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C04:04HLPTGLPLL0.84750.99241019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C03:67LHLPTGLPL0.84310.9957918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:05LPTGLPLLV0.83730.71111120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C03:06TASGSGSGL0.80020.9899615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:11LHLPTGLPL0.79970.9758918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C18:01HLPTGLPLL0.79560.99171019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B53:02LPTGLPLLV0.7760.89441120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:02HLPTGLPLL0.75240.99061019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B67:01LPTGLPLLV0.68770.99111120
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C17:01ITLHLPTGL0.64350.9793716
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C01:03HLPTGLPLL0.61130.9891019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-C17:01HLPTGLPLL0.49090.99331019
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-B07:13TASGSGSGL0.4250.8687615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B82:02LPTGLPLLV0.3850.87481120
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-C08:01TASGSGSGL0.25770.9966615
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B40:21HLPTGLPLL0.0780.89071019
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B40:12LHLPTGLPL0.02860.8778918
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:05LHLPTGLPLL0.99680.9987919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:09LHLPTGLPLL0.98980.9796919
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:11LHLPTGLPLL0.93280.9847919
ACVR1C-ACVR1Bchr2158406673chr12523777821136HLA-A74:01GSGLPLLVQR0.89030.9261121
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:31TLHLPTGLPL0.69950.9884818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B39:11TLHLPTGLPL0.6880.9752818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B15:09TLHLPTGLPL0.57390.9767818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B38:05TLHLPTGLPL0.50350.9983818
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B51:05HLPTGLPLLV0.41810.74431020
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B59:01HLPTGLPLLV0.29480.96481020
ACVR1C-ACVR1Bchr2158406673chr1252377782618HLA-B59:01LHLPTGLPLLV0.99440.9626920

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Potential FusionNeoAntigen Information of ACVR1C-ACVR1B in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Fusion breakpoint peptide structures of ACVR1C-ACVR1B

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
6217NITLHLPTGLPLLVACVR1CACVR1Bchr2158406673chr1252377782618
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
9250TASGSGSGLPLLVQACVR1CACVR1Bchr2158406673chr12523777821136

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ACVR1C-ACVR1B

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score
HLA-B14:023BVN6217NITLHLPTGLPLLV-7.15543-7.26883
HLA-B14:023BVN6217NITLHLPTGLPLLV-4.77435-5.80965
HLA-B52:013W396217NITLHLPTGLPLLV-6.80875-6.92215
HLA-B52:013W396217NITLHLPTGLPLLV-4.20386-5.23916
HLA-A11:014UQ26217NITLHLPTGLPLLV-7.5194-8.5547
HLA-A11:014UQ26217NITLHLPTGLPLLV-6.9601-7.0735
HLA-A24:025HGA6217NITLHLPTGLPLLV-7.52403-7.63743
HLA-A24:025HGA6217NITLHLPTGLPLLV-5.82433-6.85963
HLA-B27:056PYJ6217NITLHLPTGLPLLV-3.28285-4.31815
HLA-B44:053DX86217NITLHLPTGLPLLV-5.91172-6.94702
HLA-B44:053DX86217NITLHLPTGLPLLV-4.24346-4.35686
HLA-B14:023BVN9250TASGSGSGLPLLVQ-6.8286-6.942
HLA-B14:023BVN9250TASGSGSGLPLLVQ-5.62762-6.66292
HLA-B52:013W399250TASGSGSGLPLLVQ-6.7449-6.8583
HLA-B52:013W399250TASGSGSGLPLLVQ-5.48544-6.52074
HLA-A11:014UQ29250TASGSGSGLPLLVQ-9.57637-9.68977
HLA-A24:025HGA9250TASGSGSGLPLLVQ-7.42737-7.54077
HLA-A24:025HGA9250TASGSGSGLPLLVQ-6.24088-7.27618
HLA-B44:053DX89250TASGSGSGLPLLVQ-6.72859-7.76389
HLA-B44:053DX89250TASGSGSGLPLLVQ-5.64675-5.76015

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Vaccine Design for the FusionNeoAntigens of ACVR1C-ACVR1B

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence
ACVR1C-ACVR1Bchr2158406673chr12523777821018HLPTGLPLACAACAAAGATAATGGCACCTGGA
ACVR1C-ACVR1Bchr2158406673chr12523777821019HLPTGLPLLACAACAAAGATAATGGCACCTGGACAC
ACVR1C-ACVR1Bchr2158406673chr12523777821019SGSGLPLLVACAACAAAGATAATGGCACCTGGACAC
ACVR1C-ACVR1Bchr2158406673chr12523777821020HLPTGLPLLVACAACAAAGATAATGGCACCTGGACACAGC
ACVR1C-ACVR1Bchr2158406673chr12523777821119LPTGLPLLACAAAGATAATGGCACCTGGACAC
ACVR1C-ACVR1Bchr2158406673chr12523777821120LPTGLPLLVACAAAGATAATGGCACCTGGACACAGC
ACVR1C-ACVR1Bchr2158406673chr12523777821121GSGLPLLVQRACAAAGATAATGGCACCTGGACACAGCTGT
ACVR1C-ACVR1Bchr2158406673chr12523777821221SGLPLLVQRAAGATAATGGCACCTGGACACAGCTGT
ACVR1C-ACVR1Bchr2158406673chr1252377782615TASGSGSGLTCATTGCTGCTGACAACAAAGATAATG
ACVR1C-ACVR1Bchr2158406673chr1252377782716ITLHLPTGLTTGCTGCTGACAACAAAGATAATGGCA
ACVR1C-ACVR1Bchr2158406673chr1252377782818TLHLPTGLPLCTGCTGACAACAAAGATAATGGCACCTGGA
ACVR1C-ACVR1Bchr2158406673chr1252377782819TLHLPTGLPLLCTGCTGACAACAAAGATAATGGCACCTGGACAC
ACVR1C-ACVR1Bchr2158406673chr1252377782918LHLPTGLPLCTGACAACAAAGATAATGGCACCTGGA
ACVR1C-ACVR1Bchr2158406673chr1252377782919LHLPTGLPLLCTGACAACAAAGATAATGGCACCTGGACAC
ACVR1C-ACVR1Bchr2158406673chr1252377782920LHLPTGLPLLVCTGACAACAAAGATAATGGCACCTGGACACAGC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence

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Information of the samples that have these potential fusion neoantigens of ACVR1C-ACVR1B

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample
Non-CancerACVR1C-ACVR1Bchr2158406673ENST00000243349chr1252377782ENST00000257963203N
Non-CancerACVR1C-ACVR1Bchr2158406673ENST00000335450chr1252377782ENST00000257963203N

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Potential target of CAR-T therapy development for ACVR1C-ACVR1B

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneACVR1Cchr2:158406673chr12:52377782ENST00000243349-49114_134258494.0TransmembraneHelical
HgeneACVR1Cchr2:158406673chr12:52377782ENST00000335450-38114_134178414.0TransmembraneHelical
HgeneACVR1Cchr2:158406673chr12:52377782ENST00000409680-49114_134208444.0TransmembraneHelical

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to ACVR1C-ACVR1B

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ACVR1C-ACVR1B

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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