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: 30906

FusionGeneSummary for RECQL5_ARHGDIA

check button Fusion gene summary
Fusion gene informationFusion gene name: RECQL5_ARHGDIA
Fusion gene ID: 30906
HgeneTgene
Gene symbol

RECQL5

ARHGDIA

Gene ID

9400

396

Gene nameRecQ like helicase 5Rho GDP dissociation inhibitor alpha
SynonymsRECQ5GDIA1|HEL-S-47e|NPHS8|RHOGDI|RHOGDI-1
Cytomap

17q25.1

17q25.3

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5rho GDP-dissociation inhibitor 1GDP-dissociation inhibitor, aplysia RAS-related 1Rho GDP dissociation inhibitor (GDI) alphaepididymis secretory sperm binding protein Li 47e
Modification date2018052320180523
UniProtAcc

O94762

P52565

Ensembl transtripts involved in fusion geneENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
ENST00000582520, ENST00000269321, 
ENST00000400721, ENST00000584461, 
ENST00000541078, ENST00000580685, 
ENST00000581876, 
Fusion gene scores* DoF score8 X 7 X 5=2802 X 2 X 2=8
# samples 92
** MAII scorelog2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: RECQL5 [Title/Abstract] AND ARHGDIA [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
ChiTaRS3.1AA434220RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
* 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-intronENST00000423245ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000423245ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000423245ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000423245ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000423245ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000423245ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000423245ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000317905ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000317905ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000317905ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000317905ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000317905ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000317905ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000317905ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000420326ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000420326ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000420326ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000420326ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000420326ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000420326ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000420326ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000340830ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000340830ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000340830ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000340830ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000340830ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000340830ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000340830ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000584999ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000584999ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000584999ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000584999ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000584999ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000584999ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000584999ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000443199ENST00000582520RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000443199ENST00000269321RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000443199ENST00000400721RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-intronENST00000443199ENST00000584461RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000443199ENST00000541078RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000443199ENST00000580685RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-
intron-3UTRENST00000443199ENST00000581876RECQL5chr17

73627279

-ARHGDIAchr17

79826673

-

Top

FusionProtFeatures for RECQL5_ARHGDIA


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

O94762

ARHGDIA

P52565

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}. Controls Rho proteins homeostasis. Regulates the GDP/GTPexchange reaction of the Rho proteins by inhibiting thedissociation of GDP from them, and the subsequent binding of GTPto them. Retains Rho proteins such as CDC42, RAC1 and RHOA in aninactive cytosolic pool, regulating their stability and protectingthem from degradation. Actively involved in the recycling anddistribution of activated Rho GTPases in the cell, mediatesextraction from membranes of both inactive and activated moleculesdue its exceptionally high affinity for prenylated forms. Throughthe modulation of Rho proteins, may play a role in cell motilityregulation. In glioma cells, inhibits cell migration and invasionby mediating the signals of SEMA5A and PLXNB3 that lead toinactivation of RAC1. {ECO:0000269|PubMed:20400958,ECO:0000269|PubMed:23434736}.

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_ARHGDIA


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_ARHGDIA


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


Top

RelatedDrugs for RECQL5_ARHGDIA


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_ARHGDIA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneARHGDIAC0019693HIV Infections1CTD_human
TgeneARHGDIAC0022548Keloid1CTD_human
TgeneARHGDIAC0027627Neoplasm Metastasis1CTD_human
TgeneARHGDIAC1458155Mammary Neoplasms1CTD_human