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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:HSD3B2-MON2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: HSD3B2-MON2
FusionPDB ID: 37690
FusionGDB2.0 ID: 37690
HgeneTgene
Gene symbol

HSD3B2

MON2

Gene ID

3284

23041

Gene namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2MON2 homolog, regulator of endosome-to-Golgi trafficking
SynonymsHSD3B|HSDB|SDR11E2-
Cytomap

1p12

12q14.1

Type of geneprotein-codingprotein-coding
Description3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 23 beta-HSD type II3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II3-betaprotein MON2 homologMON2 regulator of endosome-to-Golgi trafficking
Modification date2020031320200313
UniProtAcc

P26439

Main function of 5'-partner protein: FUNCTION: 3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. {ECO:0000269|PubMed:1741954}.

Q7Z3U7

Main function of 5'-partner protein: FUNCTION: Plays a role in regulating membrane trafficking of cargo proteins. Together with ATP9A and DOP1B, regulates SNX3 retromer-mediated endosomal sorting of WLS away from lysosomal degradation. {ECO:0000269|PubMed:30213940}.
Ensembl transtripts involved in fusion geneENST idsENST00000471656, ENST00000369416, 
ENST00000543831, 
ENST00000280379, 
ENST00000393629, ENST00000393630, 
ENST00000393632, ENST00000546600, 
ENST00000552738, ENST00000549378, 
ENST00000551397, ENST00000552115, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 1=1615 X 11 X 6=990
# samples 417
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(17/990*10)=-2.54189377882927
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: HSD3B2 [Title/Abstract] AND MON2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: HSD3B2 [Title/Abstract] AND MON2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)HSD3B2(119958184)-MON2(62979094), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneHSD3B2

GO:0006694

steroid biosynthetic process

1944309



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/chr1:119958184/chr12:62979094)
- 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 HSD3B2 (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 MON2 (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)
ENST00000543831HSD3B2chr1119958184+ENST00000280379MON2chr1262979094+699391189698169
ENST00000543831HSD3B2chr1119958184+ENST00000393632MON2chr1262979094+3686391189824211
ENST00000543831HSD3B2chr1119958184+ENST00000393630MON2chr1262979094+5659391189824211
ENST00000543831HSD3B2chr1119958184+ENST00000546600MON2chr1262979094+1415391189698169
ENST00000543831HSD3B2chr1119958184+ENST00000552738MON2chr1262979094+941391189824211
ENST00000543831HSD3B2chr1119958184+ENST00000393629MON2chr1262979094+941391189824211
ENST00000369416HSD3B2chr1119958184+ENST00000280379MON2chr1262979094+658350148657170
ENST00000369416HSD3B2chr1119958184+ENST00000393632MON2chr1262979094+3645350148783211
ENST00000369416HSD3B2chr1119958184+ENST00000393630MON2chr1262979094+5618350148783211
ENST00000369416HSD3B2chr1119958184+ENST00000546600MON2chr1262979094+1374350148657169
ENST00000369416HSD3B2chr1119958184+ENST00000552738MON2chr1262979094+900350148783211
ENST00000369416HSD3B2chr1119958184+ENST00000393629MON2chr1262979094+900350148783211

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
ENST00000543831ENST00000280379HSD3B2chr1119958184+MON2chr1262979094+0.055813430.9441866
ENST00000543831ENST00000393632HSD3B2chr1119958184+MON2chr1262979094+0.0019186330.9980813
ENST00000543831ENST00000393630HSD3B2chr1119958184+MON2chr1262979094+0.0010380960.9989619
ENST00000543831ENST00000546600HSD3B2chr1119958184+MON2chr1262979094+0.020496690.9795033
ENST00000543831ENST00000552738HSD3B2chr1119958184+MON2chr1262979094+0.0062994430.9937005
ENST00000543831ENST00000393629HSD3B2chr1119958184+MON2chr1262979094+0.0062994430.9937005
ENST00000369416ENST00000280379HSD3B2chr1119958184+MON2chr1262979094+0.0288835170.9711165
ENST00000369416ENST00000393632HSD3B2chr1119958184+MON2chr1262979094+0.0017931110.99820685
ENST00000369416ENST00000393630HSD3B2chr1119958184+MON2chr1262979094+0.0009844710.99901557
ENST00000369416ENST00000546600HSD3B2chr1119958184+MON2chr1262979094+0.0180047730.9819952
ENST00000369416ENST00000552738HSD3B2chr1119958184+MON2chr1262979094+0.0043855730.9956144
ENST00000369416ENST00000393629HSD3B2chr1119958184+MON2chr1262979094+0.0043855730.9956144

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 HSD3B2-MON2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
HSD3B2chr1119958184MON2chr126297909435068KAFRPELREEFSMREEFSKMCFETLL
HSD3B2chr1119958184MON2chr126297909439168KAFRPELREEFSMREEFSKMCFETLL

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Potential FusionNeoAntigen Information of HSD3B2-MON2 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.
HSD3B2-MON2_119958184_62979094.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)
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:03EEFSMREEF0.99960.9757817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:01EEFSMREEF0.99920.9337817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B47:01EEFSMREEF0.99880.5993817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:01SMREEFSKM0.99770.89991120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B50:02EEFSMREEF0.96240.5865817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B45:01EEFSMREEF0.92650.9375817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:25SMREEFSKM0.91390.90681120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:02SMREEFSKM0.90940.91431120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:03SMREEFSKM0.77750.73321120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B47:01REEFSMREEF0.99920.5699717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:03REEFSMREEF0.99610.974717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:07SMREEFSKM0.99760.74681120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:04SMREEFSKM0.98370.89791120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:21SMREEFSKM0.9080.90181120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:05SMREEFSKM0.48270.86171120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:13EEFSMREEF0.99960.9757817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:07EEFSMREEF0.99960.9757817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:26EEFSMREEF0.99960.9757817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:07EEFSMREEF0.99940.9081817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:04EEFSMREEF0.99940.9422817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:06EEFSMREEF0.99930.9429817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:05EEFSMREEF0.99920.9337817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:08EEFSMREEF0.99910.8891817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:03EEFSMREEF0.99880.929817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B18:11EEFSMREEF0.99810.9157817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:50SMREEFSKM0.9980.93381120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:33SMREEFSKM0.99770.89991120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:34SMREEFSKM0.99770.89991120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:27SMREEFSKM0.99770.91891120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:125SMREEFSKM0.99770.89991120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:135SMREEFSKM0.99770.8861120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:35SMREEFSKM0.99740.89191120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:24SMREEFSKM0.99590.88231120
HSD3B2-MON2chr1119958184chr1262979094350HLA-C12:02SMREEFSKM0.99520.97721120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:54SMREEFSKM0.99490.85071120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:68SMREEFSKM0.9920.65921120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B40:04EEFSMREEF0.99010.7348817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:73SMREEFSKM0.96280.83461120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:12SMREEFSKM0.96150.87141120
HSD3B2-MON2chr1119958184chr1262979094350HLA-A02:03SMREEFSKM0.95220.63141120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:30SMREEFSKM0.92190.69861120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:39SMREEFSKM0.90540.83191120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B35:20EEFSMREEF0.87790.9408817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B08:12SMREEFSKM0.73280.54591120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B41:03EEFSMREEF0.69780.6891817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B48:02EEFSMREEF0.68020.9178817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:53EEFSMREEF0.62580.8941817
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:20SMREEFSKM0.47980.89811120
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:26REEFSMREEF0.99610.974717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:13REEFSMREEF0.99610.974717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B44:07REEFSMREEF0.99610.974717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B40:04REEFSMREEF0.99470.6992717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B15:53REEFSMREEF0.98940.9535717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B48:02REEFSMREEF0.97550.9587717
HSD3B2-MON2chr1119958184chr1262979094350HLA-B41:03REEFSMREEF0.85540.6173717

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Potential FusionNeoAntigen Information of HSD3B2-MON2 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 HSD3B2-MON2

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
5508LREEFSMREEFSKMHSD3B2MON2chr1119958184chr1262979094350

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of HSD3B2-MON2

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-B14:023BVN5508LREEFSMREEFSKM-4.93023-5.69623
HLA-B14:023BVN5508LREEFSMREEFSKM-4.03623-4.22633
HLA-B52:013W395508LREEFSMREEFSKM-6.76045-6.95055
HLA-B52:013W395508LREEFSMREEFSKM-4.82304-5.58904
HLA-A11:014UQ25508LREEFSMREEFSKM-6.12244-6.88844
HLA-A24:025HGA5508LREEFSMREEFSKM-6.83882-7.60482
HLA-A24:025HGA5508LREEFSMREEFSKM-5.32749-5.51759
HLA-B44:053DX85508LREEFSMREEFSKM-7.07991-7.84591
HLA-B44:053DX85508LREEFSMREEFSKM-6.27909-6.46919
HLA-A02:016TDR5508LREEFSMREEFSKM-3.83325-4.59925

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Vaccine Design for the FusionNeoAntigens of HSD3B2-MON2

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
HSD3B2-MON2chr1119958184chr12629790941120SMREEFSKMTTTCTATGAGAGAGGAATTTTCTAAAA
HSD3B2-MON2chr1119958184chr1262979094717REEFSMREEFTGAGAGAGGAATTTTCTATGAGAGAGGAAT
HSD3B2-MON2chr1119958184chr1262979094817EEFSMREEFGAGAGGAATTTTCTATGAGAGAGGAAT

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 HSD3B2-MON2

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/AHSD3B2-MON2chr1119958184ENST00000369416chr1262979094ENST00000280379AV710380

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Potential target of CAR-T therapy development for HSD3B2-MON2

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 HSD3B2-MON2

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 HSD3B2-MON2

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