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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: 17875

FusionGeneSummary for ITGB4_RECQL5

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGB4_RECQL5
Fusion gene ID: 17875
HgeneTgene
Gene symbol

ITGB4

RECQL5

Gene ID

3691

9400

Gene nameintegrin subunit beta 4RecQ like helicase 5
SynonymsCD104|GP150RECQ5
Cytomap

17q25.1

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionintegrin beta-4CD104 antigenATP-dependent DNA helicase Q5DNA helicase, RecQ-like type 5RecQ helicase-like 5RecQ protein-like 5
Modification date2018052720180523
UniProtAcc

P16144

O94762

Ensembl transtripts involved in fusion geneENST00000579662, ENST00000339591, 
ENST00000200181, ENST00000450894, 
ENST00000449880, ENST00000584558, 
ENST00000423245, ENST00000317905, 
ENST00000420326, ENST00000340830, 
ENST00000584999, ENST00000443199, 
Fusion gene scores* DoF score15 X 12 X 8=14404 X 5 X 3=60
# samples 165
** MAII scorelog2(16/1440*10)=-3.16992500144231
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: ITGB4 [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
HgeneITGB4

GO:0009611

response to wounding

19403692

HgeneITGB4

GO:0031581

hemidesmosome assembly

12482924

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
TCGALDOVTCGA-23-1030-01AITGB4chr17

73727028

+RECQL5chr17

73626566

-
* 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-intronENST00000579662ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000579662ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000579662ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000579662ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000579662ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000579662ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000339591ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000200181ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000450894ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
5CDS-intronENST00000449880ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000423245ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000317905ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000420326ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000340830ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000584999ITGB4chr17

73727028

+RECQL5chr17

73626566

-
3UTR-intronENST00000584558ENST00000443199ITGB4chr17

73727028

+RECQL5chr17

73626566

-

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FusionProtFeatures for ITGB4_RECQL5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGB4

P16144

RECQL5

O94762

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 ITGB4_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 ITGB4_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
ITGB4SHC1, EIF6, ERBB2IP, ALOX12, COL17A1, DST, SREBF2, ITGA3, ARRDC3, ATXN1, SMAD2, SMAD3, PLEC, JUP, HNRNPU, ATF2, ENPP2, LPAR1, SEL1L, ILK, HNRNPD, VCP, MYH13, TNRC6A, SGTB, GEMIN7, MYO19, KLC3, BAG6, PPP2R3C, SKI, EGFR, MUC5ACRECQL5CUX1, 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 ITGB4_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 ITGB4_RECQL5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGB4C1856934Epidermolysis bullosa with pyloric atresia9CTD_human;ORPHANET;UNIPROT
HgeneITGB4C0266159Pyloric Atresia2CTD_human
HgeneITGB4C0000786Spontaneous abortion1CTD_human
HgeneITGB4C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneITGB4C0013575Ectodermal Dysplasia1CTD_human
HgeneITGB4C0014527Epidermolysis Bullosa1CTD_human
HgeneITGB4C0017639Gliosis1CTD_human
HgeneITGB4C0036095Salivary Gland Neoplasms1CTD_human
HgeneITGB4C0079301Junctional Epidermolysis Bullosa1CTD_human
HgeneITGB4C0268374Adult junctional epidermolysis bullosa (disorder)1CTD_human;ORPHANET;UNIPROT