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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:BBS1-DDB2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BBS1-DDB2
FusionPDB ID: 9085
FusionGDB2.0 ID: 9085
HgeneTgene
Gene symbol

BBS1

DDB2

Gene ID

582

1643

Gene nameBardet-Biedl syndrome 1damage specific DNA binding protein 2
SynonymsBBS2L2DDBB|UV-DDB2|XPE
Cytomap

11q13.2

11p11.2

Type of geneprotein-codingprotein-coding
DescriptionBardet-Biedl syndrome 1 proteinBBS2-like protein 2DNA damage-binding protein 2DDB p48 subunitUV-DDB 2UV-damaged DNA-binding protein 2damage-specific DNA binding protein 2, 48kDaxeroderma pigmentosum group E protein
Modification date2020032020200327
UniProtAcc

Q6ZW61

Q92466

Ensembl transtripts involved in fusion geneENST idsENST00000529766, ENST00000318312, 
ENST00000455748, ENST00000393994, 
ENST00000537537, 
ENST00000256996, 
ENST00000378600, ENST00000378603, 
ENST00000378601, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score2 X 2 X 2=812 X 6 X 7=504
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: BBS1 [Title/Abstract] AND DDB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BBS1(66291353)-DDB2(47259387), # samples:1
Anticipated loss of major functional domain due to fusion event.BBS1-DDB2 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.
BBS1-DDB2 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.
BBS1-DDB2 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.
BBS1-DDB2 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
TgeneDDB2

GO:0000209

protein polyubiquitination

12732143

TgeneDDB2

GO:0009411

response to UV

12732143

TgeneDDB2

GO:0035518

histone H2A monoubiquitination

22334663

TgeneDDB2

GO:0051865

protein autoubiquitination

12732143

TgeneDDB2

GO:0070914

UV-damage excision repair

22334663


check buttonFusion gene breakpoints across BBS1 (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 DDB2 (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
ChimerDB4OVTCGA-36-1570BBS1chr11

66291353

+DDB2chr11

47259387

+


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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)
ENST00000318312BBS1chr1166291353+ENST00000378600DDB2chr1147259387+17891161511421456
ENST00000318312BBS1chr1166291353+ENST00000378603DDB2chr1147259387+17891161511421456
ENST00000318312BBS1chr1166291353+ENST00000256996DDB2chr1147259387+17891161511421456
ENST00000455748BBS1chr1166291353+ENST00000378600DDB2chr1147259387+1465837181097359
ENST00000455748BBS1chr1166291353+ENST00000378603DDB2chr1147259387+1465837181097359
ENST00000455748BBS1chr1166291353+ENST00000256996DDB2chr1147259387+1465837181097359

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
ENST00000318312ENST00000378600BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000318312ENST00000378603BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000318312ENST00000256996BBS1chr1166291353+DDB2chr1147259387+0.0053392560.9946608
ENST00000455748ENST00000378600BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849
ENST00000455748ENST00000378603BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849
ENST00000455748ENST00000256996BBS1chr1166291353+DDB2chr1147259387+0.0041509220.995849

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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

>9085_9085_1_BBS1-DDB2_BBS1_chr11_66291353_ENST00000318312_DDB2_chr11_47259387_ENST00000256996_length(amino acids)=456AA_BP=370
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNG
NIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQE

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

>9085_9085_2_BBS1-DDB2_BBS1_chr11_66291353_ENST00000318312_DDB2_chr11_47259387_ENST00000378600_length(amino acids)=456AA_BP=370
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNG
NIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQE

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

>9085_9085_3_BBS1-DDB2_BBS1_chr11_66291353_ENST00000318312_DDB2_chr11_47259387_ENST00000378603_length(amino acids)=456AA_BP=370
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEDRIDPLTLKEMLESIRETAEEPLSIQSLRFLQLELS
EMEAFVNQHKSNSIKRQTVITTMTTLKKNLADEDAVSCLVLGTENKELLVLDPEAFTILAKMSLPSVPVFLEVSGQFDVEFRLAAACRNG
NIYILRRDSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRD
KALLNVIHTPAAWHPRYNLIVVGRYPDPNFKSCTPYELRTIDVFDGNSGKMMCQLYDPESSGISSLNEFNPMGDTLASAMGYHILIWSQE

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

>9085_9085_4_BBS1-DDB2_BBS1_chr11_66291353_ENST00000455748_DDB2_chr11_47259387_ENST00000256996_length(amino acids)=359AA_BP=273
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRR
DSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVI

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

>9085_9085_5_BBS1-DDB2_BBS1_chr11_66291353_ENST00000455748_DDB2_chr11_47259387_ENST00000378600_length(amino acids)=359AA_BP=273
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRR
DSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVI

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

>9085_9085_6_BBS1-DDB2_BBS1_chr11_66291353_ENST00000455748_DDB2_chr11_47259387_ENST00000378603_length(amino acids)=359AA_BP=273
MAAASSSDSDACGAESNEANSKWLDAHYDPMANIHTFSACLALADLHGDGEYKLVVGDLGPGGQQPRLKVLKGPLVMTESPLPALPAAAA
TFLMEQHEPRTPALALASGPCVYVYKNLRPYFKFSLPQLPPNPLEQDLWNQAKEMSLPSVPVFLEVSGQFDVEFRLAAACRNGNIYILRR
DSKHPKYCIELSAQPVGLIRVHKVLVVGSTQDSLHGFTHKGKKLWTVQMPAAILTMNLLEQHSRGLQAVMAGLANGEVRIYRDKALLNVI

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

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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/chr11:66291353/chr11:47259387)
- 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
BBS1

Q6ZW61

DDB2

Q92466

FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. As part of the TRiC complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia (PubMed:20080638). Involved in adipogenic differentiation (PubMed:19190184). {ECO:0000269|PubMed:19190184, ECO:0000269|PubMed:20080638}.FUNCTION: Protein, which is both involved in DNA repair and protein ubiquitination, as part of the UV-DDB complex and DCX (DDB1-CUL4-X-box) complexes, respectively (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:9892649, PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899). Core component of the UV-DDB complex (UV-damaged DNA-binding protein complex), a complex that recognizes UV-induced DNA damage and recruit proteins of the nucleotide excision repair pathway (the NER pathway) to initiate DNA repair (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386, PubMed:14751237). The UV-DDB complex preferentially binds to cyclobutane pyrimidine dimers (CPD), 6-4 photoproducts (6-4 PP), apurinic sites and short mismatches (PubMed:10882109, PubMed:11278856, PubMed:11705987, PubMed:16260596, PubMed:12944386). Also functions as the substrate recognition module for the DCX (DDB2-CUL4-X-box) E3 ubiquitin-protein ligase complex DDB2-CUL4-ROC1 (also known as CUL4-DDB-ROC1 and CUL4-DDB-RBX1) (PubMed:12732143, PubMed:15882621, PubMed:16473935, PubMed:18593899, PubMed:26572825). The DDB2-CUL4-ROC1 complex may ubiquitinate histone H2A, histone H3 and histone H4 at sites of UV-induced DNA damage (PubMed:16678110, PubMed:16473935). The ubiquitination of histones may facilitate their removal from the nucleosome and promote subsequent DNA repair (PubMed:16678110, PubMed:16473935). The DDB2-CUL4-ROC1 complex also ubiquitinates XPC, which may enhance DNA-binding by XPC and promote NER (PubMed:15882621). The DDB2-CUL4-ROC1 complex also ubiquitinates KAT7/HBO1 in response to DNA damage, leading to its degradation: recognizes KAT7/HBO1 following phosphorylation by ATR (PubMed:26572825). {ECO:0000269|PubMed:10882109, ECO:0000269|PubMed:11278856, ECO:0000269|PubMed:11705987, ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:12944386, ECO:0000269|PubMed:14751237, ECO:0000269|PubMed:15882621, ECO:0000269|PubMed:16260596, ECO:0000269|PubMed:16473935, ECO:0000269|PubMed:16678110, ECO:0000269|PubMed:18593899, ECO:0000269|PubMed:26572825, ECO:0000269|PubMed:9892649}.; FUNCTION: [Isoform D1]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.; FUNCTION: [Isoform D2]: Inhibits UV-damaged DNA repair. {ECO:0000269|PubMed:14751237}.

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
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026256_274152.0239.0MotifNote=DWD box
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026334_336152.0239.0RegionNote=Photolesion recognition
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159334_336281.6666666666667237.33333333333334RegionNote=Photolesion recognition
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359334_336277.0364.0RegionNote=Photolesion recognition
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610343_386341.0428.0RepeatWD 6
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610396_420341.0428.0RepeatWD 7
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026159_194152.0239.0RepeatWD 2
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026203_238152.0239.0RepeatWD 3
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026244_287152.0239.0RepeatWD 4
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026290_329152.0239.0RepeatWD 5
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026343_386152.0239.0RepeatWD 6
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026396_420152.0239.0RepeatWD 7
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159290_329281.6666666666667237.33333333333334RepeatWD 5
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159343_386281.6666666666667237.33333333333334RepeatWD 6
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159396_420281.6666666666667237.33333333333334RepeatWD 7
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359290_329277.0364.0RepeatWD 5
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359343_386277.0364.0RepeatWD 6
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359396_420277.0364.0RepeatWD 7

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610256_274341.0428.0MotifNote=DWD box
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159256_274281.6666666666667237.33333333333334MotifNote=DWD box
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359256_274277.0364.0MotifNote=DWD box
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610334_336341.0428.0RegionNote=Photolesion recognition
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610116_151341.0428.0RepeatWD 1
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610159_194341.0428.0RepeatWD 2
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610203_238341.0428.0RepeatWD 3
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610244_287341.0428.0RepeatWD 4
TgeneDDB2chr11:66291353chr11:47259387ENST00000256996610290_329341.0428.0RepeatWD 5
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860026116_151152.0239.0RepeatWD 1
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159116_151281.6666666666667237.33333333333334RepeatWD 1
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159159_194281.6666666666667237.33333333333334RepeatWD 2
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159203_238281.6666666666667237.33333333333334RepeatWD 3
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860159244_287281.6666666666667237.33333333333334RepeatWD 4
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359116_151277.0364.0RepeatWD 1
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359159_194277.0364.0RepeatWD 2
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359203_238277.0364.0RepeatWD 3
TgeneDDB2chr11:66291353chr11:47259387ENST0000037860359244_287277.0364.0RepeatWD 4


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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
BBS1
DDB2


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


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Related Drugs to BBS1-DDB2


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 BBS1-DDB2


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