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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: 30908

FusionGeneSummary for RECQL5_CCDC47

check button Fusion gene summary
Fusion gene informationFusion gene name: RECQL5_CCDC47
Fusion gene ID: 30908
HgeneTgene
Gene symbol

RECQL5

CCDC47

Gene ID

9400

57003

Gene nameRecQ like helicase 5coiled-coil domain containing 47
SynonymsRECQ5GK001|MSTP041
Cytomap

17q25.1

17q23.3

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5coiled-coil domain-containing protein 47Calumin
Modification date2018052320180523
UniProtAcc

O94762

Q96A33

Ensembl transtripts involved in fusion geneENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
ENST00000225726, ENST00000403162, 
ENST00000582252, 
Fusion gene scores* DoF score8 X 7 X 5=2803 X 3 X 3=27
# samples 93
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RECQL5 [Title/Abstract] AND CCDC47 [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
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
TCGALDLUADTCGA-44-3396-01ARECQL5chr17

73624298

-CCDC47chr17

61843554

-
* 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
5CDS-5UTRENST00000423245ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5CDS-5UTRENST00000423245ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5CDS-5UTRENST00000423245ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5CDS-5UTRENST00000317905ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5CDS-5UTRENST00000317905ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5CDS-5UTRENST00000317905ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000420326ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000420326ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000420326ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000340830ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000340830ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000340830ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000584999ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000584999ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
intron-5UTRENST00000584999ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5UTR-5UTRENST00000443199ENST00000225726RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5UTR-5UTRENST00000443199ENST00000403162RECQL5chr17

73624298

-CCDC47chr17

61843554

-
5UTR-5UTRENST00000443199ENST00000582252RECQL5chr17

73624298

-CCDC47chr17

61843554

-

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FusionProtFeatures for RECQL5_CCDC47


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

O94762

CCDC47

Q96A33

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 RECQL5_CCDC47


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_CCDC47


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, BRCA2CCDC47TMBIM4, PHLDA3, TOM1L1, CLN3, AMFR, IRAK1, IRF7, TIRAP, SARM1, TMEM173, UNC93B1, CUL3, COPS5, ECT2, LMNA, ERLIN2, EGFR, ILK, CLTC, CYB5B, PHB2, PYCR1, RAB1A, RAB1B, RPN1, NTRK1, TCTN2, TCTN3, EVC2, TMEM237, TMEM17, TMEM216, TMEM67, CTDNEP1, TPTE, PTPN1, TRIM25


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_CCDC47


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_CCDC47


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