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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ABCD3-EXOC4

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

Q96A65

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
Context (manual curation of fusion genes in FusionPDB)

PubMed: ABCD3 [Title/Abstract] AND EXOC4 [Title/Abstract] AND fusion [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 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 Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChiTaRS5.0N/ADA454805ABCD3chr1

94884144

+EXOC4chr7

133502077

+


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Fusion ORF Analysis


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

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>326_326_1_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000315713_EXOC4_chr7_133502077_ENST00000253861_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_2_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000315713_EXOC4_chr7_133502077_ENST00000539845_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_3_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000370214_EXOC4_chr7_133502077_ENST00000253861_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_4_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000370214_EXOC4_chr7_133502077_ENST00000539845_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_5_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000394233_EXOC4_chr7_133502077_ENST00000253861_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_6_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000394233_EXOC4_chr7_133502077_ENST00000539845_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_7_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000454898_EXOC4_chr7_133502077_ENST00000253861_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

>326_326_8_ABCD3-EXOC4_ABCD3_chr1_94884144_ENST00000454898_EXOC4_chr7_133502077_ENST00000539845_length(amino acids)=506AA_BP=37
MAAFSKYLTARNSSLAGAAFLLLCLLHKRRRALGLHGFIQEIEHALGLGPAKQCPLREFLTVYIKNIFLNQVLAEINKEIEGVTKTSDPL
KILANADTMKVLGVQRPLLQSTIIVEKTVQDLLNLMHDLSAYSDQFLNMVCVKLQEYKDTCTAAYRGIVQSEEKLVISASWAKDDDISRL
LKSLPNWMNMAQPKQLRPKREEEEDFIRAAFGKESEVLIGNLGDKLIPPQDILRDVSDLKALANMHESLEWLASRTKSAFSNLSTSQMLS
PAQDSHTNTDLPPVSEQIMQTLSELAKSFQDMADRCLLVLHLEVRVHCFHYLIPLAKEGNYAIVANVESMDYDPLVVKLNKDISAIEEAM
SASLQQHKFQYIFEGLGHLISCILINGAQYFRRISESGIKKMCRNIFVLQQNLTNITMSREADLDFARQYYEMLYNTADELLNLVVDQGV

--------------------------------------------------------------

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Fusion Protein Functional Features


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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCD3

P28288

EXOC4

Q96A65

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}.FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane. {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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneEXOC4chr1:94884144chr7:133502077ENST0000039316101032_1140474.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19440_65936.666666666666664237.0DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+1985_37236.666666666666664237.0DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123440_65936.666666666666664660.0DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+12385_37236.666666666666664660.0DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119440_65936.666666666666664550.0DomainABC transporter
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+11985_37236.666666666666664550.0DomainABC transmembrane type-1
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19473_48036.666666666666664237.0Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123473_48036.666666666666664660.0Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119473_48036.666666666666664550.0Nucleotide bindingATP
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+191_12436.666666666666664237.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+1231_12436.666666666666664660.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+1191_12436.666666666666664550.0RegionNote=Targeting to peroxisomes
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19126_14636.666666666666664237.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19224_24436.666666666666664237.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+19313_33336.666666666666664237.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+1984_10436.666666666666664237.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123126_14636.666666666666664660.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123224_24436.666666666666664660.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+123313_33336.666666666666664660.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+12384_10436.666666666666664660.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119126_14636.666666666666664550.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119224_24436.666666666666664550.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+119313_33336.666666666666664550.0TransmembraneHelical
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+11984_10436.666666666666664550.0TransmembraneHelical
TgeneEXOC4chr1:94884144chr7:133502077ENST0000025386191832_114504.6666666666667975.0Coiled coilOntology_term=ECO:0000255


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ABCD3
EXOC4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneABCD3chr1:94884144chr7:133502077ENST00000315713+191_19936.666666666666664237.0PEX19
HgeneABCD3chr1:94884144chr7:133502077ENST00000370214+1231_19936.666666666666664660.0PEX19
HgeneABCD3chr1:94884144chr7:133502077ENST00000394233+1191_19936.666666666666664550.0PEX19


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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