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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 16508

FusionGeneSummary for HN1_RECQL5

check button Fusion gene summary
Fusion gene informationFusion gene name: HN1_RECQL5
Fusion gene ID: 16508
HgeneTgene
Gene symbol

HN1

RECQL5

Gene ID

9400

Gene nameRecQ like helicase 5
SynonymsRECQ5
Cytomap

17q25.1

Type of geneprotein-coding
DescriptionATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5
Modification date20180523
UniProtAcc

O94762

Ensembl transtripts involved in fusion geneENST00000476258, ENST00000405458, 
ENST00000409753, ENST00000482348, 
ENST00000356033, ENST00000470924, 
ENST00000481647, ENST00000392566, 
ENST00000581874, ENST00000465454, 
ENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
Fusion gene scores* DoF score7 X 5 X 5=1754 X 5 X 3=60
# samples 75
** MAII scorelog2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDUCECTCGA-KP-A3W1-01AHN1chr17

73150437

-RECQL5chr17

73627748

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
intron-3CDSENST00000476258ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000476258ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000476258ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000476258ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000405458ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000405458ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000405458ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000409753ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000409753ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000409753ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000409753ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000482348ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000482348ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000482348ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000356033ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000356033ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000356033ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000356033ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000470924ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000470924ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000470924ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-3CDSENST00000481647ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-intronENST00000481647ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
intron-5UTRENST00000481647ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000392566ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000392566ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000392566ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000581874ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
Frame-shitENST00000581874ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-intronENST00000581874ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5CDS-5UTRENST00000581874ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000423245HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-3CDSENST00000465454ENST00000317905HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000420326HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000340830HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-intronENST00000465454ENST00000584999HN1chr17

73150437

-RECQL5chr17

73627748

-
5UTR-5UTRENST00000465454ENST00000443199HN1chr17

73150437

-RECQL5chr17

73627748

-

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FusionProtFeatures for HN1_RECQL5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HN1

RECQL5

O94762

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Isoform beta is a DNA helicase that plays an importantrole in DNA replication, transcription and repair. Inhibitselongation of stalled transcripts at DNA damage sites by bindingto the RNA polymerase II subunit POLR2A and blocking the TCEA1binding site. Required for mitotic chromosome separation aftercross-over events and cell cycle progress. Required for efficientDNA repair, including repair of inter-strand cross-links.Stimulates DNA decatenation mediated by TOP2A. Prevents sisterchromatid exchange and homologous recombination.{ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:20348101,ECO:0000269|PubMed:20643585, ECO:0000269|PubMed:22013166,ECO:0000269|PubMed:22973052, ECO:0000269|PubMed:23715498,ECO:0000269|PubMed:23748380}.

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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FusionGeneSequence for HN1_RECQL5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
HN1ARHGAP44, SFPQ, KPNA2, CPLX1, PMPCB, SEPT9, UNK, CFL1, COTL1, HSPB1, PLIN3, SNCG, STMN1, TRIM28, CDH1, EGFRRECQL5CUX1, DDX42, ITGB3BP, MAPK8IP1, MTSS1, CREB1, PLK1, TIMP1, EEF1G, TOP3A, TOP3B, MRE11A, RAD50, NBN, PRKDC, RECQL4, MCM7, POLR2A, POLR2B, NCL, UBR5, CUL5, DHX29, BRCA1, MDC1, POLR2C, RAD51, PCNA, POLR2E, POLR2G, POLR2D, POLR2I, BNIPL, RPRD1B, POLR2M, DXO, DHX36, EIF2D, KIN, TP53, HIST1H2BG, HIST1H3A, FOSL2, POLR2F, PARD6B, POLR1A, WWP2, LMO2, PITHD1, FANCC, BRCA2


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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RelatedDrugs for HN1_RECQL5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for HN1_RECQL5


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