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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: 36855

FusionGeneSummary for SWI5_RINT1

check button Fusion gene summary
Fusion gene informationFusion gene name: SWI5_RINT1
Fusion gene ID: 36855
HgeneTgene
Gene symbol

SWI5

RINT1

Gene ID

375757

60561

Gene nameSWI5 homologous recombination repair proteinRAD50 interactor 1
SynonymsC9orf119|SAE3RINT-1
Cytomap

9q34.11

7q22.3

Type of geneprotein-codingprotein-coding
DescriptionDNA repair protein SWI5 homologHBV DNAPTP1-transactivated protein ASWI5 recombination repair homologprotein SAE3 homologRAD50-interacting protein 1
Modification date2018052320180523
UniProtAcc

Q1ZZU3

Q6NUQ1

Ensembl transtripts involved in fusion geneENST00000495313, ENST00000320188, 
ENST00000608796, ENST00000419867, 
ENST00000418976, 
ENST00000257700, 
ENST00000477285, 
Fusion gene scores* DoF score3 X 1 X 2=64 X 4 X 3=48
# samples 34
** MAII scorelog2(3/6*10)=2.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SWI5 [Title/Abstract] AND RINT1 [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
HgeneSWI5

GO:0071479

cellular response to ionizing radiation

23754376


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-13-0797-01ASWI5chr9

131048312

+RINT1chr7

105207566

+
* 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-shiftENST00000495313ENST00000257700SWI5chr9

131048312

+RINT1chr7

105207566

+
5CDS-intronENST00000495313ENST00000477285SWI5chr9

131048312

+RINT1chr7

105207566

+
Frame-shiftENST00000320188ENST00000257700SWI5chr9

131048312

+RINT1chr7

105207566

+
5CDS-intronENST00000320188ENST00000477285SWI5chr9

131048312

+RINT1chr7

105207566

+
Frame-shiftENST00000608796ENST00000257700SWI5chr9

131048312

+RINT1chr7

105207566

+
5CDS-intronENST00000608796ENST00000477285SWI5chr9

131048312

+RINT1chr7

105207566

+
Frame-shiftENST00000419867ENST00000257700SWI5chr9

131048312

+RINT1chr7

105207566

+
5CDS-intronENST00000419867ENST00000477285SWI5chr9

131048312

+RINT1chr7

105207566

+
Frame-shiftENST00000418976ENST00000257700SWI5chr9

131048312

+RINT1chr7

105207566

+
5CDS-intronENST00000418976ENST00000477285SWI5chr9

131048312

+RINT1chr7

105207566

+

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FusionProtFeatures for SWI5_RINT1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SWI5

Q1ZZU3

RINT1

Q6NUQ1

Component of the SWI5-SFR1 complex, a complex requiredfor double-strand break repair via homologous recombination.{ECO:0000269|PubMed:21252223}. Involved in regulation of membrane traffic between theGolgi and the endoplasmic reticulum (ER); the function is proposedto depend on its association in the NRZ complex which is believedto play a role in SNARE assembly at the ER. May play a role incell cycle checkpoint control (PubMed:11096100). Essential fortelomere length control (PubMed:16600870).{ECO:0000269|PubMed:11096100, ECO:0000269|PubMed:16600870,ECO:0000305}.

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 SWI5_RINT1


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 SWI5_RINT1


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
SWI5SFR1, RAD51RINT1STX18, ZW10, RAD50, GFI1B, YLPM1, RBL2, RBL1, RB1, ARNT2, DCX, LMO2, PIK3R2, SMARCE1, STRN, HDAC4, FAM107A, SNW1, C1orf109, VPS37C, FAM90A1, RBM41, CCDC146, SH2D4A, RSRC2, SCNM1, ZNF655, CCDC121, FAM124B, CSPP1, EPC1, FAM110A, FAM161A, ZNF697, CCDC101, SFR1, CWF19L2, FAM81B, RIBC1, TXLNA, RTP5, CEP57L1, LSP1P3, USE1, BSG, CD274, GNAI2, F2RL1, NTRK1, SCLT1, SSX2IP, FOXL1, PTPRJ, SCFD2, NBAS, C19orf25, SPAG5, SEC22B, BNIP1, VIPR2, FZD10, APLNR, VAMP3, EPHA1, HTR2C, SIGLECL1, CHRM4, NAPA, OPRM1, TMEM206, PTPRN, SMARCB1


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 SWI5_RINT1


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 SWI5_RINT1


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