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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:NPLOC4-PLCE1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NPLOC4-PLCE1
FusionPDB ID: 59956
FusionGDB2.0 ID: 59956
HgeneTgene
Gene symbol

NPLOC4

PLCE1

Gene ID

55666

51196

Gene nameNPL4 homolog, ubiquitin recognition factorphospholipase C epsilon 1
SynonymsNPL4NPHS3|PLCE|PPLC
Cytomap

17q25.3

10q23.33

Type of geneprotein-codingprotein-coding
Descriptionnuclear protein localization protein 4 homologNPLOC4 ubiquitin recognition factornuclear protein localization 4 homolog1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase epsilon-1PLC-epsilon-1pancreas-enriched phospholipase Cphosphoinositide phospholipase Cphosphoinositide phospholipase C-epsilon-1phosphoinositide-specific phospholipase C epsilon-1
Modification date2020031320200313
UniProtAcc

Q8TAT6

.
Ensembl transtripts involved in fusion geneENST idsENST00000331134, ENST00000374747, 
ENST00000574344, ENST00000539314, 
ENST00000572760, ENST00000573876, 
ENST00000464214, ENST00000260766, 
ENST00000371375, ENST00000371380, 
ENST00000371385, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 17 X 11=35537 X 8 X 6=336
# samples 308
** MAII scorelog2(30/3553*10)=-3.56600328283534
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: NPLOC4 [Title/Abstract] AND PLCE1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NPLOC4(79577235)-PLCE1(96081657), # samples:1
Anticipated loss of major functional domain due to fusion event.NPLOC4-PLCE1 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.
NPLOC4-PLCE1 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.
NPLOC4-PLCE1 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.
NPLOC4-PLCE1 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
TgenePLCE1

GO:0000187

activation of MAPK activity

11022047

TgenePLCE1

GO:0007200

phospholipase C-activating G protein-coupled receptor signaling pathway

11022047|11022048

TgenePLCE1

GO:0007265

Ras protein signal transduction

11022048

TgenePLCE1

GO:0008277

regulation of G protein-coupled receptor signaling pathway

11022047

TgenePLCE1

GO:0045859

regulation of protein kinase activity

11022047

TgenePLCE1

GO:0046578

regulation of Ras protein signal transduction

11022047


check buttonFusion gene breakpoints across NPLOC4 (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 PLCE1 (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-59-2363NPLOC4chr17

79577235

-PLCE1chr10

96081657

+


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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)
ENST00000331134NPLOC4chr1779577235-ENST00000260766PLCE1chr1096081657+166765131217404
ENST00000331134NPLOC4chr1779577235-ENST00000371380PLCE1chr1096081657+609865131217404
ENST00000331134NPLOC4chr1779577235-ENST00000371385PLCE1chr1096081657+166765131217404
ENST00000331134NPLOC4chr1779577235-ENST00000371375PLCE1chr1096081657+174765131217404
ENST00000374747NPLOC4chr1779577235-ENST00000260766PLCE1chr1096081657+158156511131376
ENST00000374747NPLOC4chr1779577235-ENST00000371380PLCE1chr1096081657+601256511131376
ENST00000374747NPLOC4chr1779577235-ENST00000371385PLCE1chr1096081657+158156511131376
ENST00000374747NPLOC4chr1779577235-ENST00000371375PLCE1chr1096081657+166156511131376

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
ENST00000331134ENST00000260766NPLOC4chr1779577235-PLCE1chr1096081657+0.0046275130.9953725
ENST00000331134ENST00000371380NPLOC4chr1779577235-PLCE1chr1096081657+0.000506160.99949384
ENST00000331134ENST00000371385NPLOC4chr1779577235-PLCE1chr1096081657+0.0046275130.9953725
ENST00000331134ENST00000371375NPLOC4chr1779577235-PLCE1chr1096081657+0.0080433970.9919566
ENST00000374747ENST00000260766NPLOC4chr1779577235-PLCE1chr1096081657+0.0036496380.9963503
ENST00000374747ENST00000371380NPLOC4chr1779577235-PLCE1chr1096081657+0.0004902370.9995098
ENST00000374747ENST00000371385NPLOC4chr1779577235-PLCE1chr1096081657+0.0036496380.9963503
ENST00000374747ENST00000371375NPLOC4chr1779577235-PLCE1chr1096081657+0.0071889740.992811

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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

>59956_59956_1_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000331134_PLCE1_chr10_96081657_ENST00000260766_length(amino acids)=404AA_BP=216
MVSRPRARGERIERGTGTSAAGGAGRAKLERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRIT
ATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDE
IDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQT
LCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKK

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

>59956_59956_2_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000331134_PLCE1_chr10_96081657_ENST00000371375_length(amino acids)=404AA_BP=216
MVSRPRARGERIERGTGTSAAGGAGRAKLERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRIT
ATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDE
IDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQT
LCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKK

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

>59956_59956_3_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000331134_PLCE1_chr10_96081657_ENST00000371380_length(amino acids)=404AA_BP=216
MVSRPRARGERIERGTGTSAAGGAGRAKLERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRIT
ATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDE
IDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQT
LCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKK

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

>59956_59956_4_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000331134_PLCE1_chr10_96081657_ENST00000371385_length(amino acids)=404AA_BP=216
MVSRPRARGERIERGTGTSAAGGAGRAKLERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRIT
ATKRETAATFLKKVAKEFGFQNNGFSVYINRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDE
IDQYLSKQDGKIYRSRDPQLCRHGPLGKCVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQT
LCKAKYSYSILSNPNPSDYVLLEEVVKDTTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKK

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

>59956_59956_5_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000374747_PLCE1_chr10_96081657_ENST00000260766_length(amino acids)=376AA_BP=188
LERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVY
INRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGK
CVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKD
TTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEE

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

>59956_59956_6_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000374747_PLCE1_chr10_96081657_ENST00000371375_length(amino acids)=376AA_BP=188
LERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVY
INRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGK
CVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKD
TTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEE

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

>59956_59956_7_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000374747_PLCE1_chr10_96081657_ENST00000371380_length(amino acids)=376AA_BP=188
LERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVY
INRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGK
CVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKD
TTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEE

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

>59956_59956_8_NPLOC4-PLCE1_NPLOC4_chr17_79577235_ENST00000374747_PLCE1_chr10_96081657_ENST00000371385_length(amino acids)=376AA_BP=188
LERRWRRRREAGAGAEAAAGSARPLGRQAAAARGSSPEAGAAAMAESIIIRVQSPDGVKRITATKRETAATFLKKVAKEFGFQNNGFSVY
INRNKTGEITASSNKSLNLLKIKHGDLLFLFPSSLAGPSSEMETSVPPGFKVFGAPNVVEDEIDQYLSKQDGKIYRSRDPQLCRHGPLGK
CVHCVPLENLEEKNIVQDDKEVILSSEEESFFVQVHDVSPEQPRTVIKAPRVSTAQDVIQQTLCKAKYSYSILSNPNPSDYVLLEEVVKD
TTNKKTTTPKSSQRVLLDQECVFQAQSKWKGAGKFILKLKEQVQASREDKKKGISFASELKKLTKSTKQPRGLTSPSQLLTSESIQTKEE

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

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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/chr17:79577235/chr10:96081657)
- 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
NPLOC4

Q8TAT6

.
FUNCTION: The ternary complex containing UFD1, VCP and NPLOC4 binds ubiquitinated proteins and is necessary for the export of misfolded proteins from the ER to the cytoplasm, where they are degraded by the proteasome. The NPLOC4-UFD1-VCP complex regulates spindle disassembly at the end of mitosis and is necessary for the formation of a closed nuclear envelope (By similarity). Acts as a negative regulator of type I interferon production via the complex formed with VCP and UFD1, which binds to DDX58/RIG-I and recruits RNF125 to promote ubiquitination and degradation of DDX58/RIG-I (PubMed:26471729). {ECO:0000250|UniProtKB:Q9ES54, ECO:0000269|PubMed:26471729}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628332135_22382114.02354.6666666666665DomainRas-associating 2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527311851_19761806.01995.0DomainC2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527312012_21141806.01995.0DomainRas-associating 1
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527312135_22381806.01995.0DomainRas-associating 2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027322135_22382114.03441.3333333333335DomainRas-associating 2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527321851_19761806.02035.3333333333333DomainC2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527322012_21141806.02035.3333333333333DomainRas-associating 1
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527322135_22381806.02035.3333333333333DomainRas-associating 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNPLOC4chr17:79577235chr10:96081657ENST00000331134-517226_363145.0609.0DomainMPN
HgeneNPLOC4chr17:79577235chr10:96081657ENST00000374747-516226_363145.0618.0DomainMPN
HgeneNPLOC4chr17:79577235chr10:96081657ENST00000331134-517580_608145.0609.0Zinc fingerRanBP2-type
HgeneNPLOC4chr17:79577235chr10:96081657ENST00000374747-516580_608145.0618.0Zinc fingerRanBP2-type
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628331392_15402114.02354.6666666666665DomainPI-PLC X-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628331730_18462114.02354.6666666666665DomainPI-PLC Y-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628331851_19762114.02354.6666666666665DomainC2
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628332012_21142114.02354.6666666666665DomainRas-associating 1
TgenePLCE1chr17:79577235chr10:96081657ENST000002607662833531_7902114.02354.6666666666665DomainRas-GEF
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527311392_15401806.01995.0DomainPI-PLC X-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527311730_18461806.01995.0DomainPI-PLC Y-box
TgenePLCE1chr17:79577235chr10:96081657ENST000003713752731531_7901806.01995.0DomainRas-GEF
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027321392_15402114.03441.3333333333335DomainPI-PLC X-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027321730_18462114.03441.3333333333335DomainPI-PLC Y-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027321851_19762114.03441.3333333333335DomainC2
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027322012_21142114.03441.3333333333335DomainRas-associating 1
TgenePLCE1chr17:79577235chr10:96081657ENST000003713802732531_7902114.03441.3333333333335DomainRas-GEF
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527321392_15401806.02035.3333333333333DomainPI-PLC X-box
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527321730_18461806.02035.3333333333333DomainPI-PLC Y-box
TgenePLCE1chr17:79577235chr10:96081657ENST000003713852732531_7901806.02035.3333333333333DomainRas-GEF
TgenePLCE1chr17:79577235chr10:96081657ENST0000026076628331686_17642114.02354.6666666666665RegionRequired for activation by RHOA%2C RHOB%2C GNA12%2C GNA13 and G-beta gamma
TgenePLCE1chr17:79577235chr10:96081657ENST0000037137527311686_17641806.01995.0RegionRequired for activation by RHOA%2C RHOB%2C GNA12%2C GNA13 and G-beta gamma
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138027321686_17642114.03441.3333333333335RegionRequired for activation by RHOA%2C RHOB%2C GNA12%2C GNA13 and G-beta gamma
TgenePLCE1chr17:79577235chr10:96081657ENST0000037138527321686_17641806.02035.3333333333333RegionRequired for activation by RHOA%2C RHOB%2C GNA12%2C GNA13 and G-beta gamma


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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
NPLOC4
PLCE1


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 NPLOC4-PLCE1


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 NPLOC4-PLCE1


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