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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:DCBLD1-MCM9

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DCBLD1-MCM9
FusionPDB ID: 21564
FusionGDB2.0 ID: 21564
HgeneTgene
Gene symbol

DCBLD1

MCM9

Gene ID

285761

254394

Gene namediscoidin, CUB and LCCL domain containing 1minichromosome maintenance 9 homologous recombination repair factor
SynonymsdJ94G16.1C6orf61|MCMDC1|ODG4|dJ329L24.1|dJ329L24.3
Cytomap

6q22.1

6q22.31

Type of geneprotein-codingprotein-coding
Descriptiondiscoidin, CUB and LCCL domain-containing protein 1DNA helicase MCM9DNA replication licensing factor MCM9mini-chromosome maintenance deficient domain-containing protein 1minichromosome maintenance complex component 9
Modification date2020031320200313
UniProtAcc

Q8N8Z6

Main function of 5'-partner protein:

Q9NXL9

Main function of 5'-partner protein: FUNCTION: Component of the MCM8-MCM9 complex, a complex involved in the repair of double-stranded DNA breaks (DBSs) and DNA interstrand cross-links (ICLs) by homologous recombination (HR) (PubMed:23401855). Required for DNA resection by the MRE11-RAD50-NBN/NBS1 (MRN) complex by recruiting the MRN complex to the repair site and by promoting the complex nuclease activity (PubMed:26215093). Probably by regulating the localization of the MRN complex, indirectly regulates the recruitment of downstream effector RAD51 to DNA damage sites including DBSs and ICLs (PubMed:23401855). Acts as a helicase in DNA mismatch repair (MMR) following DNA replication errors to unwind the mismatch containing DNA strand (PubMed:26300262). In addition, recruits MLH1, a component of the MMR complex, to chromatin (PubMed:26300262). The MCM8-MCM9 complex is dispensable for DNA replication and S phase progression (PubMed:23401855). Probably by regulating HR, plays a key role during gametogenesis (By similarity). {ECO:0000250|UniProtKB:Q2KHI9, ECO:0000269|PubMed:23401855, ECO:0000269|PubMed:26215093, ECO:0000269|PubMed:26300262}.
Ensembl transtripts involved in fusion geneENST idsENST00000296955, ENST00000338728, 
ENST00000368503, ENST00000534777, 
ENST00000505485, ENST00000316068, 
ENST00000316316, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 6 X 5=2405 X 5 X 4=100
# samples 85
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: DCBLD1 [Title/Abstract] AND MCM9 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: DCBLD1 [Title/Abstract] AND MCM9 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DCBLD1(117825142)-MCM9(119177708), # samples:1
Anticipated loss of major functional domain due to fusion event.DCBLD1-MCM9 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.
DCBLD1-MCM9 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.
DCBLD1-MCM9 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.
DCBLD1-MCM9 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
TgeneMCM9

GO:0000724

double-strand break repair via homologous recombination

22771115

TgeneMCM9

GO:0006974

cellular response to DNA damage stimulus

22771115



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/chr6:117825142/chr6:119177708)
- 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 DCBLD1 (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 MCM9 (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)
ENST00000368503DCBLD1chr6117825142+ENST00000316316MCM9chr6119177708-411445082731907
ENST00000296955DCBLD1chr6117825142+ENST00000316316MCM9chr6119177708-411445082731907
ENST00000338728DCBLD1chr6117825142+ENST00000316316MCM9chr6119177708-410944532726907

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
ENST00000368503ENST00000316316DCBLD1chr6117825142+MCM9chr6119177708-0.000481330.99951863
ENST00000296955ENST00000316316DCBLD1chr6117825142+MCM9chr6119177708-0.000481330.99951863
ENST00000338728ENST00000316316DCBLD1chr6117825142+MCM9chr6119177708-0.0004683290.99953175

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 DCBLD1-MCM9

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
DCBLD1chr6117825142MCM9chr6119177708445147SDYLLFTSSSDQYGLTVTAVKDSGEW
DCBLD1chr6117825142MCM9chr6119177708450147SDYLLFTSSSDQYGLTVTAVKDSGEW

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Potential FusionNeoAntigen Information of DCBLD1-MCM9 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.
DCBLD1-MCM9_117825142_119177708.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)
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B14:01DQYGLTVTA0.99560.9361019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B14:02DQYGLTVTA0.99560.9361019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B39:06DQYGLTVTA0.96890.96111019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B15:37DQYGLTVTA0.95640.68091019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B50:01DQYGLTVTA0.94020.93051019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B50:02DQYGLTVTA0.9150.7841019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B39:01DQYGLTVTA0.820.94021019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:01DQYGLTVTA0.63280.85771019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C05:09SSDQYGLTV0.99990.9004817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:10SSDQYGLTV0.99990.8196817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:07SSDQYGLTV0.99980.8066817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:15SSDQYGLTV0.99970.8803817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B73:01DQYGLTVTA0.98220.89741019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C15:06SSDQYGLTV0.97360.8351817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C03:07SSDQYGLTV0.97270.9297817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:06SSDQYGLTV0.96270.786817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B39:09DQYGLTVTA0.81990.89611019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B78:01DQYGLTVTA0.80970.90051019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C03:19SSDQYGLTV0.75960.969817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B51:07DQYGLTVTA0.73950.98091019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B39:05DQYGLTVTA0.72360.93241019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:14SSDQYGLTV0.7210.851817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B14:03DQYGLTVTA0.71590.84381019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:13SSDQYGLTV0.64530.8281817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:04SSDQYGLTV0.64530.8281817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:03SSDQYGLTV0.23730.9515817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C02:06SSDQYGLTV0.1170.9027817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B51:07DQYGLTVTAV0.8150.98161020
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B15:04SDQYGLTVTA0.74790.8061919
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:03SSDQYGLTV0.99990.8396817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C05:01SSDQYGLTV0.99990.9004817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:01SSDQYGLTV0.99980.8066817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C18:01SSDQYGLTV0.99980.834817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C01:03SSDQYGLTV0.99970.7927817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:02SSDQYGLTV0.99970.8803817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C15:02SSDQYGLTV0.98830.7492817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C15:05SSDQYGLTV0.98030.7943817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B50:05DQYGLTVTA0.94020.93051019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B50:04DQYGLTVTA0.94020.93051019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C04:04SSDQYGLTV0.91390.7636817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B39:31DQYGLTVTA0.83520.93961019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:04DQYGLTVTA0.82640.86471019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B78:02DQYGLTVTA0.74630.9191019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C03:06SSDQYGLTV0.68220.9719817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:06DQYGLTVTA0.63380.88441019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:05DQYGLTVTA0.63280.85771019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:08DQYGLTVTA0.60710.90231019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B18:03DQYGLTVTA0.60040.84051019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B15:09DQYGLTVTA0.50550.92461019
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C17:01SSDQYGLTV0.34540.8009817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C08:01SSDQYGLTV0.23730.9515817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-C07:04SSDQYGLTV0.11270.9146817
DCBLD1-MCM9chr6117825142chr6119177708450HLA-B07:13SSDQYGLTV0.00290.6544817

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Potential FusionNeoAntigen Information of DCBLD1-MCM9 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.
DCBLD1-MCM9_117825142_119177708.msa

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)
DCBLD1-MCM9chr6117825142chr6119177708450DRB1-0486SDYLLFTSSSDQYGL015
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0101SDQYGLTVTAVKDSG924
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0105SDQYGLTVTAVKDSG924
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0112SDQYGLTVTAVKDSG924
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0112SSDQYGLTVTAVKDS823
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0113SDQYGLTVTAVKDSG924
DCBLD1-MCM9chr6117825142chr6119177708450DRB5-0114SDQYGLTVTAVKDSG924

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Fusion breakpoint peptide structures of DCBLD1-MCM9

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
9674TSSSDQYGLTVTAVDCBLD1MCM9chr6117825142chr6119177708450

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of DCBLD1-MCM9

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-B14:023BVN9674TSSSDQYGLTVTAV-8.46672-8.58012
HLA-B14:023BVN9674TSSSDQYGLTVTAV-4.13749-5.17279
HLA-B52:013W399674TSSSDQYGLTVTAV-7.85514-7.96854
HLA-B52:013W399674TSSSDQYGLTVTAV-2.01447-3.04977
HLA-A11:014UQ29674TSSSDQYGLTVTAV-9.68879-9.80219
HLA-A24:025HGA9674TSSSDQYGLTVTAV-8.7721-8.8855
HLA-A24:025HGA9674TSSSDQYGLTVTAV-5.53899-6.57429
HLA-B44:053DX89674TSSSDQYGLTVTAV-7.04417-7.15757
HLA-B44:053DX89674TSSSDQYGLTVTAV-3.2143-4.2496

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Vaccine Design for the FusionNeoAntigens of DCBLD1-MCM9

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
DCBLD1-MCM9chr6117825142chr61191777081019DQYGLTVTAATCAATATGGTCTGACGGTAACTGCTG
DCBLD1-MCM9chr6117825142chr61191777081020DQYGLTVTAVATCAATATGGTCTGACGGTAACTGCTGTAA
DCBLD1-MCM9chr6117825142chr6119177708817SSDQYGLTVCTTCAGATCAATATGGTCTGACGGTAA
DCBLD1-MCM9chr6117825142chr6119177708919SDQYGLTVTACAGATCAATATGGTCTGACGGTAACTGCTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
DCBLD1-MCM9chr6117825142chr6119177708015SDYLLFTSSSDQYGLCTGACTATCTTCTCTTCACCAGCTCTTCAGATCAATATGGTCTGA
DCBLD1-MCM9chr6117825142chr6119177708823SSDQYGLTVTAVKDSCTTCAGATCAATATGGTCTGACGGTAACTGCTGTAAAAGACTCAG
DCBLD1-MCM9chr6117825142chr6119177708924SDQYGLTVTAVKDSGCAGATCAATATGGTCTGACGGTAACTGCTGTAAAAGACTCAGGAG

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Information of the samples that have these potential fusion neoantigens of DCBLD1-MCM9

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
STADDCBLD1-MCM9chr6117825142ENST00000296955chr6119177708ENST00000316316TCGA-BR-A4IY-01A

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Potential target of CAR-T therapy development for DCBLD1-MCM9

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 DCBLD1-MCM9

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 DCBLD1-MCM9

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