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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:ABCD3-EXOC4

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABCD3-EXOC4
FusionPDB ID: 326
FusionGDB2.0 ID: 326
HgeneTgene
Gene symbol

ABCD3

EXOC4

Gene ID

5825

60412

Gene nameATP binding cassette subfamily D member 3exocyst complex component 4
SynonymsABC43|CBAS5|PMP70|PXMP1|ZWS2SEC8|SEC8L1|Sec8p
Cytomap

1p21.3

7q33

Type of geneprotein-codingprotein-coding
DescriptionATP-binding cassette sub-family D member 370 kDa peroxisomal membrane proteinATP-binding cassette, sub-family D (ALD), member 3Peroxisomal membrane protein-1 (70kD)dJ824O18.1 (ATP-binding cassette, sub-family D (ALD), member 3 (PMP70, PXMP1))peroxisoexocyst complex component 4SEC8-like 1exocyst complex component Sec8
Modification date2020031320200320
UniProtAcc

P28288

Main function of 5'-partner protein: FUNCTION: Probable transporter involved in the transport of branched-chain fatty acids and C27 bile acids into the peroxisome; the latter function is a crucial step in bile acid biosynthesis (PubMed:25168382). The nucleotide-binding fold acts as an ATP-binding subunit with ATPase activity (PubMed:11248239). {ECO:0000269|PubMed:11248239, ECO:0000269|PubMed:25168382}.

Q96A65

Main function of 5'-partner protein: FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. {ECO:0000250}.
Ensembl transtripts involved in fusion geneENST idsENST00000315713, ENST00000370214, 
ENST00000394233, ENST00000454898, 
ENST00000536817, ENST00000484213, 
ENST00000460346, ENST00000393161, 
ENST00000541309, ENST00000545148, 
ENST00000253861, ENST00000539845, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 4=12035 X 25 X 10=8750
# samples 639
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(39/8750*10)=-4.48773698785744
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ABCD3 [Title/Abstract] AND EXOC4 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ABCD3 [Title/Abstract] AND EXOC4 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABCD3(94884144)-EXOC4(133502077), # samples:1
Anticipated loss of major functional domain due to fusion event.ABCD3-EXOC4 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.
ABCD3-EXOC4 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
HgeneABCD3

GO:0007031

peroxisome organization

9425230



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/chr1:94884144/chr7:133502077)
- 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 ABCD3 (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 EXOC4 (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)
ENST00000394233ABCD3chr194884144+ENST00000253861EXOC4chr7133502077+28542121021622506
ENST00000394233ABCD3chr194884144+ENST00000539845EXOC4chr7133502077+16822121021622506
ENST00000454898ABCD3chr194884144+ENST00000253861EXOC4chr7133502077+2818176661586506
ENST00000454898ABCD3chr194884144+ENST00000539845EXOC4chr7133502077+1646176661586506
ENST00000370214ABCD3chr194884144+ENST00000253861EXOC4chr7133502077+2776134241544506
ENST00000370214ABCD3chr194884144+ENST00000539845EXOC4chr7133502077+1604134241544506
ENST00000315713ABCD3chr194884144+ENST00000253861EXOC4chr7133502077+275211001520506
ENST00000315713ABCD3chr194884144+ENST00000539845EXOC4chr7133502077+158011001520506

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
ENST00000394233ENST00000253861ABCD3chr194884144+EXOC4chr7133502077+0.0006674190.9993326
ENST00000394233ENST00000539845ABCD3chr194884144+EXOC4chr7133502077+0.0016914590.99830854
ENST00000454898ENST00000253861ABCD3chr194884144+EXOC4chr7133502077+0.000647340.99935263
ENST00000454898ENST00000539845ABCD3chr194884144+EXOC4chr7133502077+0.0015601520.99843985
ENST00000370214ENST00000253861ABCD3chr194884144+EXOC4chr7133502077+0.0006611620.9993388
ENST00000370214ENST00000539845ABCD3chr194884144+EXOC4chr7133502077+0.0019614570.9980386
ENST00000315713ENST00000253861ABCD3chr194884144+EXOC4chr7133502077+0.0006376150.9993624
ENST00000315713ENST00000539845ABCD3chr194884144+EXOC4chr7133502077+0.001882380.9981177

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 ABCD3-EXOC4

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ABCD3chr194884144EXOC4chr713350207711037LLHKRRRALGLHGFIQEIEHALGLGP
ABCD3chr194884144EXOC4chr713350207713437LLHKRRRALGLHGFIQEIEHALGLGP
ABCD3chr194884144EXOC4chr713350207717637LLHKRRRALGLHGFIQEIEHALGLGP
ABCD3chr194884144EXOC4chr713350207721237LLHKRRRALGLHGFIQEIEHALGLGP

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Potential FusionNeoAntigen Information of ABCD3-EXOC4 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.
ABCD3-EXOC4_94884144_133502077.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)
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:04RRALGLHGF0.99980.8786514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:02RRALGLHGF0.99980.6007514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:05RRALGLHGF0.99980.8836514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:07RRALGLHGF0.99790.6729514
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:13GLHGFIQEI0.99670.5459918
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:21GLHGFIQEI0.99530.605918
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:04GLHGFIQEI0.99330.6487918
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:35GLHGFIQEI0.90350.506918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B13:02GLHGFIQEI0.21880.8747918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B13:01GLHGFIQEI0.17090.9526918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B52:01GLHGFIQEI0.09630.9755918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B07:10RRALGLHGF0.00590.5748514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:05RRRALGLHGF0.99980.8154414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:04RRRALGLHGF0.99980.8675414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:07RRRALGLHGF0.99920.5933414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:04KRRRALGLHGF0.99980.7717314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:05KRRRALGLHGF0.99980.6342314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:07KRRRALGLHGF0.9990.5221314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:14RRALGLHGF0.99980.7016514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:95RRALGLHGF0.99580.8014514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:03RRALGLHGF0.99330.8843514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:05RRALGLHGF0.98820.9372514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:27RRALGLHGF0.97320.9772514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:19RRALGLHGF0.81160.7518514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:80RRALGLHGF0.80160.9615514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:67RRALGLHGF0.80160.9615514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:46RRALGLHGF0.79880.9205514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:10RRALGLHGF0.79190.9747514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B39:12RRALGLHGF0.54380.8493514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C12:16RRALGLHGF0.02520.9832514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:14RRRALGLHGF0.99980.667414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:03RRRALGLHGF0.99630.823414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:03KRRRALGLHGF0.99450.6592314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:08RRALGLHGF0.99980.7905514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:10RRALGLHGF0.99980.9444514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:06RRALGLHGF0.99960.876514
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:03GLHGFIQEI0.99860.6223918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:09RRALGLHGF0.99710.8496514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:01RRALGLHGF0.99660.7373514
ABCD3-EXOC4chr194884144chr7133502077110HLA-A02:06GLHGFIQEI0.99530.605918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B15:73GLHGFIQEI0.96140.9776918
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:17RRALGLHGF0.95610.9748514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C06:08RRALGLHGF0.85530.9787514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:02RRALGLHGF0.80160.9615514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C07:22RRALGLHGF0.75990.7482514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C06:06RRALGLHGF0.11980.9915514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B40:21GLHGFIQEI0.06430.5746918
ABCD3-EXOC4chr194884144chr7133502077110HLA-B15:68RRALGLHGF0.02740.6704514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C06:17RRALGLHGF0.02470.9938514
ABCD3-EXOC4chr194884144chr7133502077110HLA-C06:02RRALGLHGF0.02470.9938514
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:08RRRALGLHGF0.99980.7135414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:10RRRALGLHGF0.99980.9337414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:06RRRALGLHGF0.99970.8579414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:09RRRALGLHGF0.99890.7732414
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:10KRRRALGLHGF0.99980.8761314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:08KRRRALGLHGF0.99970.524314
ABCD3-EXOC4chr194884144chr7133502077110HLA-B27:09KRRRALGLHGF0.99830.6264314

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Potential FusionNeoAntigen Information of ABCD3-EXOC4 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 ABCD3-EXOC4

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
7698RALGLHGFIQEIEHABCD3EXOC4chr194884144chr7133502077110

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ABCD3-EXOC4

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-B14:023BVN7698RALGLHGFIQEIEH-7.9962-8.1096
HLA-B14:023BVN7698RALGLHGFIQEIEH-5.70842-6.74372
HLA-B52:013W397698RALGLHGFIQEIEH-6.83737-6.95077
HLA-B52:013W397698RALGLHGFIQEIEH-4.4836-5.5189
HLA-A11:014UQ27698RALGLHGFIQEIEH-10.0067-10.1201
HLA-A11:014UQ27698RALGLHGFIQEIEH-9.03915-10.0745
HLA-A24:025HGA7698RALGLHGFIQEIEH-6.56204-6.67544
HLA-A24:025HGA7698RALGLHGFIQEIEH-5.42271-6.45801
HLA-B44:053DX87698RALGLHGFIQEIEH-7.85648-8.89178
HLA-B44:053DX87698RALGLHGFIQEIEH-5.3978-5.5112
HLA-A02:016TDR7698RALGLHGFIQEIEH-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of ABCD3-EXOC4

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
ABCD3-EXOC4chr194884144chr7133502077314KRRRALGLHGFCAAGCGGCGCCGCGCCCTCGGCCTGCACGGATT
ABCD3-EXOC4chr194884144chr7133502077414RRRALGLHGFGCGGCGCCGCGCCCTCGGCCTGCACGGATT
ABCD3-EXOC4chr194884144chr7133502077514RRALGLHGFGCGCCGCGCCCTCGGCCTGCACGGATT
ABCD3-EXOC4chr194884144chr7133502077918GLHGFIQEICGGCCTGCACGGATTTATTCAGGAGAT

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 ABCD3-EXOC4

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
N/AABCD3-EXOC4chr194884144ENST00000315713chr7133502077ENST00000253861DA454805

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Potential target of CAR-T therapy development for ABCD3-EXOC4

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

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 ABCD3-EXOC4

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 ABCD3-EXOC4

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