FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 30913

FusionGeneSummary for RECQL5_WBP2

check button Fusion gene summary
Fusion gene informationFusion gene name: RECQL5_WBP2
Fusion gene ID: 30913
HgeneTgene
Gene symbol

RECQL5

WBP2

Gene ID

9400

23558

Gene nameRecQ like helicase 5WW domain binding protein 2
SynonymsRECQ5DFNB107|GRAMD6|WBP-2
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 5WW domain-binding protein 2
Modification date2018052320180523
UniProtAcc

O94762

Q969T9

Ensembl transtripts involved in fusion geneENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
ENST00000254806, ENST00000585462, 
ENST00000591399, ENST00000590221, 
ENST00000344296, ENST00000433525, 
ENST00000590450, 
Fusion gene scores* DoF score8 X 7 X 5=2803 X 3 X 2=18
# samples 93
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RECQL5 [Title/Abstract] AND WBP2 [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

TgeneWBP2

GO:0032570

response to progesterone

16772533

TgeneWBP2

GO:0033148

positive regulation of intracellular estrogen receptor signaling pathway

16772533

TgeneWBP2

GO:0043627

response to estrogen

16772533

TgeneWBP2

GO:0050847

progesterone receptor signaling pathway

16772533


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
TCGARVBRCATCGA-A2-A04R-01ARECQL5chr17

73647266

-WBP2chr17

73847757

-
* 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-shitENST00000423245ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000423245ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-
Frame-shitENST00000317905ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000317905ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-3CDSENST00000420326ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000420326ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-
Frame-shitENST00000340830ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000340830ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-
Frame-shitENST00000584999ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
5CDS-5UTRENST00000584999ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-3CDSENST00000443199ENST00000254806RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000585462RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000591399RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000590221RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000344296RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000433525RECQL5chr17

73647266

-WBP2chr17

73847757

-
intron-5UTRENST00000443199ENST00000590450RECQL5chr17

73647266

-WBP2chr17

73847757

-

Top

FusionProtFeatures for RECQL5_WBP2


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

O94762

WBP2

Q969T9

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}. Acts as transcriptional coactivator of estrogen andprogesterone receptors (ESR1 and PGR) upon hormone activation(PubMed:16772533). In presence of estrogen, binds to ESR1-responsive promoters (PubMed:16772533). Required for YAP1coactivation function on PGR activity (PubMed:16772533).Synergizes with WBP2 in enhancing PGR activity (PubMed:16772533).Modulates expression of post-synaptic scaffolding proteins viaregulation of ESR1, ESR2 and PGR (By similarity).{ECO:0000250|UniProtKB:P97765, ECO:0000269|PubMed:16772533}.

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


Top

FusionGeneSequence for RECQL5_WBP2


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).

Top

FusionGenePPI for RECQL5_WBP2


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, BRCA2WBP2WWP1, WWP2, MAGI1, NEDD4, CLEC4G, NEDD4L, UPP1, BAG3, YAP1, ITCH, WWOX, MAGEA4, MED12, NF2, CTNNB1, EGFR, WWTR1, UBC, MYO6, ANKRD13A, UBA52, TOLLIP, RPS27A, RHBDD3, UBQLN1, ANKRD13D, EPN2, ANAPC1, CUEDC1, HUWE1, POLH, RNF168, TOM1L2, TDP2, UIMC1, COPE, COPA, COPG1, KRT8, KRT18, COPB1, GRPEL1, COPB2, ARCN1, RPS3, HIST1H4A, KRT9, SDHA, DDX17, EEF1B2, UBE3A, ESR1


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


Top

RelatedDrugs for RECQL5_WBP2


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

Top

RelatedDiseases for RECQL5_WBP2


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