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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: 30912

FusionGeneSummary for RECQL5_UNC13D

check button Fusion gene summary
Fusion gene informationFusion gene name: RECQL5_UNC13D
Fusion gene ID: 30912
HgeneTgene
Gene symbol

RECQL5

UNC13D

Gene ID

9400

201294

Gene nameRecQ like helicase 5unc-13 homolog D
SynonymsRECQ5FHL3|HLH3|HPLH3|Munc13-4
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5protein unc-13 homolog D
Modification date2018052320180522
UniProtAcc

O94762

Q70J99

Ensembl transtripts involved in fusion geneENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
ENST00000207549, ENST00000412096, 
ENST00000587504, 
Fusion gene scores* DoF score8 X 7 X 5=2801 X 1 X 1=1
# samples 91
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: RECQL5 [Title/Abstract] AND UNC13D [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
HgeneRECQL5

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
TCGARVSTADTCGA-BR-8678-01ARECQL5chr17

73654378

-UNC13Dchr17

73839347

-
* 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
Frame-shitENST00000423245ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000423245ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
5CDS-5UTRENST00000423245ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000317905ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000317905ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
5CDS-5UTRENST00000317905ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000420326ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000420326ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
5CDS-5UTRENST00000420326ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000340830ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000340830ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
5CDS-5UTRENST00000340830ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000584999ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
Frame-shitENST00000584999ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
5CDS-5UTRENST00000584999ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
intron-3CDSENST00000443199ENST00000207549RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
intron-3CDSENST00000443199ENST00000412096RECQL5chr17

73654378

-UNC13Dchr17

73839347

-
intron-5UTRENST00000443199ENST00000587504RECQL5chr17

73654378

-UNC13Dchr17

73839347

-

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FusionProtFeatures for RECQL5_UNC13D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RECQL5

O94762

UNC13D

Q70J99

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}. Plays a role in cytotoxic granule exocytosis inlymphocytes. Required for both granule maturation and granuledocking and priming at the immunologic synapse. Regulates assemblyof recycling and late endosomal structures, leading to theformation of an endosomal exocytic compartment that fuses withperforin-containing granules at the immunologic synapse andlicences them for exocytosis. Regulates Ca(2+)-dependent secretorylysosome exocytosis in mast cells. {ECO:0000269|PubMed:15548590,ECO:0000269|PubMed:17237785}.

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 RECQL5_UNC13D


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 RECQL5_UNC13D


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
RECQL5CUX1, 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, BRCA2UNC13DRAB27A, LMNA, XRN2, VPS37B, CUL5, ANXA5, DPYSL2, AACS, G6PD, PICALM


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 RECQL5_UNC13D


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 RECQL5_UNC13D


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