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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:ERP44-NOTCH1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ERP44-NOTCH1
FusionPDB ID: 27482
FusionGDB2.0 ID: 27482
HgeneTgene
Gene symbol

ERP44

NOTCH1

Gene ID

23071

4851

Gene nameendoplasmic reticulum protein 44notch receptor 1
SynonymsPDIA10|TXNDC4AOS5|AOVD1|TAN1|hN1
Cytomap

9q31.1

9q34.3

Type of geneprotein-codingprotein-coding
Descriptionendoplasmic reticulum resident protein 44ER protein 44endoplasmic reticulum resident protein 44 kDaepididymis secretory sperm binding proteinprotein disulfide isomerase family A, member 10thioredoxin domain containing 4 (endoplasmic reticulum)thioreneurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatednotch 1translocation-associated notch protein TAN-1
Modification date2020031320200329
UniProtAcc

Q9BS26

P46531

Ensembl transtripts involved in fusion geneENST idsENST00000262455, ENST00000491649, 
ENST00000277541, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 3=909 X 11 X 9=891
# samples 711
** MAII scorelog2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/891*10)=-3.01792190799726
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ERP44 [Title/Abstract] AND NOTCH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ERP44(102861065)-NOTCH1(139400333), # samples:1
Anticipated loss of major functional domain due to fusion event.ERP44-NOTCH1 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.
ERP44-NOTCH1 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.
ERP44-NOTCH1 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.
ERP44-NOTCH1 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
HgeneERP44

GO:0006457

protein folding

11847130

HgeneERP44

GO:0006986

response to unfolded protein

11847130

HgeneERP44

GO:0009100

glycoprotein metabolic process

11847130

HgeneERP44

GO:0034976

response to endoplasmic reticulum stress

11847130

TgeneNOTCH1

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH1

GO:0007219

Notch signaling pathway

11306509

TgeneNOTCH1

GO:0008284

positive regulation of cell proliferation

17849174

TgeneNOTCH1

GO:0008285

negative regulation of cell proliferation

11306509|20616313

TgeneNOTCH1

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH1

GO:0010812

negative regulation of cell-substrate adhesion

16501043

TgeneNOTCH1

GO:0035924

cellular response to vascular endothelial growth factor stimulus

20616313

TgeneNOTCH1

GO:0045944

positive regulation of transcription by RNA polymerase II

20616313

TgeneNOTCH1

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH1

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509

TgeneNOTCH1

GO:0071372

cellular response to follicle-stimulating hormone stimulus

20613903

TgeneNOTCH1

GO:0090051

negative regulation of cell migration involved in sprouting angiogenesis

20616313

TgeneNOTCH1

GO:2001027

negative regulation of endothelial cell chemotaxis

20616313


check buttonFusion gene breakpoints across ERP44 (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 NOTCH1 (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
ChimerDB4STADTCGA-HU-A4H2ERP44chr9

102861065

-NOTCH1chr9

139400333

-


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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)
ENST00000262455ERP44chr9102861065-ENST00000277541NOTCH1chr9139400333-55382575039101286

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
ENST00000262455ENST00000277541ERP44chr9102861065-NOTCH1chr9139400333-0.0065644950.9934355

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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

>27482_27482_1_ERP44-NOTCH1_ERP44_chr9_102861065_ENST00000262455_NOTCH1_chr9_139400333_ENST00000277541_length(amino acids)=1286AA_BP=81
MEPGSRGRGAAAWRILRCRRLPEPSPFLTQPNLAQSQPPAPVPVTDPSVTMHPAVFLSLPDLRCSLLLLGFEGATCENDARTCGSLRCLN
GGTCISGPRSPTCLCLGPFTGPECQFPASSPCLGGNPCYNQGTCEPTSESPFYRCLCPAKFNGLLCHILDYSFGGGAGRDIPPPLIEEAC
ELPECQEDAGNKVCSLQCNNHACGWDGGDCSLNFNDPWKNCTQSLQCWKYFSDGHCDSQCNSAGCLFDGFDCQRAEGQCNPLYDQYCKDH
FSDGHCDQGCNSAECEWDGLDCAEHVPERLAAGTLVVVVLMPPEQLRNSSFHFLRELSRVLHTNVVFKRDAHGQQMIFPYYGREEELRKH
PIKRAAEGWAAPDALLGQVKASLLPGGSEGGRRRRELDPMDVRGSIVYLEIDNRQCVQASSQCFQSATDVAAFLGALASLGSLNIPYKIE
AVQSETVEPPPPAQLHFMYVAAAAFVLLFFVGCGVLLSRKRRRQHGQLWFPEGFKVSEASKKKRREPLGEDSVGLKPLKNASDGALMDDN
QNEWGDEDLETKKFRFEEPVVLPDLDDQTDHRQWTQQHLDAADLRMSAMAPTPPQGEVDADCMDVNVRGPDGFTPLMIASCSGGGLETGN
SEEEEDAPAVISDFIYQGASLHNQTDRTGETALHLAARYSRSDAAKRLLEASADANIQDNMGRTPLHAAVSADAQGVFQILIRNRATDLD
ARMHDGTTPLILAARLAVEGMLEDLINSHADVNAVDDLGKSALHWAAAVNNVDAAVVLLKNGANKDMQNNREETPLFLAAREGSYETAKV
LLDHFANRDITDHMDRLPRDIAQERMHHDIVRLLDEYNLVRSPQLHGAPLGGTPTLSPPLCSPNGYLGSLKPGVQGKKVRKPSSKGLACG
SKEAKDLKARRKKSQDGKGCLLDSSGMLSPVDSLESPHGYLSDVASPPLLPSPFQQSPSVPLNHLPGMPDTHLGIGHLNVAAKPEMAALG
GGGRLAFETGPPRLSHLPVASGTSTVLGSSSGGALNFTVGGSTSLNGQCEWLSRLQSGMVPNQYNPLRGSVAPGPLSTQAPSLQHGMVGP
LHSSLAASALSQMMSYQGLPSTRLATQPHLVQTQQVQPQNLQMQQQNLQPANIQQQQSLQPPPPPPQPHLGVSSAASGHLGRSFLSGEPS
QADVQPLGPSSLAVHTILPQESPALPTSLPSSLVPPVTAAQFLTPPSQHSYSSPVDNTPSHQLQVPEHPFLTPSPESPDQWSSSSPHSNV

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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/chr9:102861065/chr9:139400333)
- 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
ERP44

Q9BS26

NOTCH1

P46531

FUNCTION: Mediates thiol-dependent retention in the early secretory pathway, forming mixed disulfides with substrate proteins through its conserved CRFS motif. Inhibits the calcium channel activity of ITPR1. May have a role in the control of oxidative protein folding in the endoplasmic reticulum. Required to retain ERO1A and ERO1B in the endoplasmic reticulum. {ECO:0000269|PubMed:11847130, ECO:0000269|PubMed:14517240}.FUNCTION: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs. Involved in angiogenesis; negatively regulates endothelial cell proliferation and migration and angiogenic sprouting. Involved in the maturation of both CD4(+) and CD8(+) cells in the thymus. Important for follicular differentiation and possibly cell fate selection within the follicle. During cerebellar development, functions as a receptor for neuronal DNER and is involved in the differentiation of Bergmann glia. Represses neuronal and myogenic differentiation. May play an essential role in postimplantation development, probably in some aspect of cell specification and/or differentiation. May be involved in mesoderm development, somite formation and neurogenesis. May enhance HIF1A function by sequestering HIF1AN away from HIF1A. Required for the THBS4 function in regulating protective astrogenesis from the subventricular zone (SVZ) niche after injury. Involved in determination of left/right symmetry by modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). {ECO:0000269|PubMed:20616313}.

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
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341575_15781338.02556.0Compositional biasNote=Poly-Val
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341661_16641338.02556.0Compositional biasNote=Poly-Arg
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341728_17311338.02556.0Compositional biasNote=Poly-Pro
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341740_17431338.02556.0Compositional biasNote=Poly-Ala
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341901_19041338.02556.0Compositional biasNote=Poly-Glu
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342259_22621338.02556.0Compositional biasNote=Poly-Gly
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342403_24061338.02556.0Compositional biasNote=Poly-Gln
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342410_24171338.02556.0Compositional biasNote=Poly-Pro
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342521_25241338.02556.0Compositional biasNote=Poly-Ser
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341348_13841338.02556.0DomainEGF-like 35
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341387_14261338.02556.0DomainEGF-like 36
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341947_19551338.02556.0RegionHIF1AN-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342014_20221338.02556.0RegionHIF1AN-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341449_14891338.02556.0RepeatLNR 1
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341490_15311338.02556.0RepeatLNR 2
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341532_15711338.02556.0RepeatLNR 3
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341927_19561338.02556.0RepeatANK 1
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341960_19901338.02556.0RepeatANK 2
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341994_20231338.02556.0RepeatANK 3
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342027_20561338.02556.0RepeatANK 4
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342060_20891338.02556.0RepeatANK 5
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123342095_21221338.02556.0RepeatNote=ANK 6
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341757_25551338.02556.0Topological domainCytoplasmic
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341736_17561338.02556.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneERP44chr9:102861065chr9:139400333ENST00000262455-11230_13819.0407.0DomainThioredoxin
HgeneERP44chr9:102861065chr9:139400333ENST00000262455-112403_40619.0407.0MotifPrevents secretion from ER
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341021_10571338.02556.0DomainEGF-like 27
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334102_1391338.02556.0DomainEGF-like 3
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341059_10951338.02556.0DomainEGF-like 28
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341097_11431338.02556.0DomainEGF-like 29
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341145_11811338.02556.0DomainEGF-like 30
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341183_12191338.02556.0DomainEGF-like 31%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341221_12651338.02556.0DomainEGF-like 32%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341267_13051338.02556.0DomainEGF-like 33
TgeneNOTCH1chr9:102861065chr9:139400333ENST0000027754123341307_13461338.02556.0DomainEGF-like 34
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334140_1761338.02556.0DomainEGF-like 4
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334178_2161338.02556.0DomainEGF-like 5%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST00000277541233420_581338.02556.0DomainEGF-like 1
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334218_2551338.02556.0DomainEGF-like 6
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334257_2931338.02556.0DomainEGF-like 7%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334295_3331338.02556.0DomainEGF-like 8%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334335_3711338.02556.0DomainEGF-like 9%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334372_4101338.02556.0DomainEGF-like 10
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334412_4501338.02556.0DomainEGF-like 11%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334452_4881338.02556.0DomainEGF-like 12%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334490_5261338.02556.0DomainEGF-like 13%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334528_5641338.02556.0DomainEGF-like 14%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334566_6011338.02556.0DomainEGF-like 15%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST00000277541233459_991338.02556.0DomainEGF-like 2
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334603_6391338.02556.0DomainEGF-like 16%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334641_6761338.02556.0DomainEGF-like 17%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334678_7141338.02556.0DomainEGF-like 18%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334716_7511338.02556.0DomainEGF-like 19%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334753_7891338.02556.0DomainEGF-like 20
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334791_8271338.02556.0DomainEGF-like 21%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334829_8671338.02556.0DomainEGF-like 22
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334869_9051338.02556.0DomainEGF-like 23%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334907_9431338.02556.0DomainEGF-like 24
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334945_9811338.02556.0DomainEGF-like 25%3B calcium-binding
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334983_10191338.02556.0DomainEGF-like 26
TgeneNOTCH1chr9:102861065chr9:139400333ENST00000277541233419_17351338.02556.0Topological domainExtracellular


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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
ERP44
NOTCH1


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
HgeneERP44chr9:102861065chr9:139400333ENST00000262455-112236_28519.0407.0ITPR1
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334420_4211338.02556.0DLL4
TgeneNOTCH1chr9:102861065chr9:139400333ENST000002775412334448_4521338.02556.0DLL4


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Related Drugs to ERP44-NOTCH1


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 ERP44-NOTCH1


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