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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:HN1-RECQL5 (FusionGDB2 ID:36998)

Fusion Gene Summary for HN1-RECQL5

check button Fusion gene summary
Fusion gene informationFusion gene name: HN1-RECQL5
Fusion gene ID: 36998
HgeneTgene
Gene symbol

HN1

RECQL5

Gene ID

100462977

9400

Gene nameMT-RNR2 like 1RecQ like helicase 5
SynonymsHN1RECQ5
Cytomap

17p11.2

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionhumanin-like 1MTRNR2-like 1humanin-like protein 1ATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356033, ENST00000409753, 
ENST00000581874, ENST00000392566, 
ENST00000405458, ENST00000465454, 
ENST00000470924, ENST00000476258, 
ENST00000481647, ENST00000482348, 
ENST00000443199, ENST00000340830, 
ENST00000420326, ENST00000584999, 
ENST00000317905, ENST00000423245, 
Fusion gene scores* DoF score5 X 3 X 5=756 X 7 X 3=126
# samples 68
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HN1 [Title/Abstract] AND RECQL5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHN1(73150437)-RECQL5(73627748), # samples:2
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
TgeneRECQL5

GO:0034244

negative regulation of transcription elongation from RNA polymerase II promoter

23748380


check buttonFusion gene breakpoints across HN1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across RECQL5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4UCECTCGA-KP-A3W1-01AHN1chr17

73150437

-RECQL5chr17

73627748

-
ChimerDB4UCECTCGA-KP-A3W1HN1chr17

73150436

-RECQL5chr17

73627748

-


Top

Fusion Gene ORF analysis for HN1-RECQL5

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000356033ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000356033ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000409753ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000409753ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000581874ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000581874ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000392566ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000392566ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000405458ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000405458ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000465454ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000465454ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000356033ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000356033ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000356033ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000356033ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000409753ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000409753ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000409753ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000409753ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000581874ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000581874ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
Frame-shiftENST00000581874ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shiftENST00000581874ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000476258ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000476258ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000476258ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000476258ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000317905HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000423245HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-5UTRENST00000470924ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000470924ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-5UTRENST00000476258ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000476258ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-5UTRENST00000481647ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000481647ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-5UTRENST00000482348ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000482348ENST00000443199HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000340830HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000420326HN1chr17

73150436

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000584999HN1chr17

73150436

-RECQL5chr17

73627748

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

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

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Fusion Genomic Features for HN1-RECQL5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for HN1-RECQL5


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/:73150437/:73627748)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for HN1-RECQL5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for HN1-RECQL5


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for HN1-RECQL5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for HN1-RECQL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource