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Center for Computational Systems Medicine
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FusionGeneSummary

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Fusion gene ID: 30650

FusionGeneSummary for RBFA_XRCC5

check button Fusion gene summary
Fusion gene informationFusion gene name: RBFA_XRCC5
Fusion gene ID: 30650
HgeneTgene
Gene symbol

RBFA

XRCC5

Gene ID

79863

7520

Gene nameribosome binding factor AX-ray repair cross complementing 5
SynonymsC18orf22|HsT169KARP-1|KARP1|KU80|KUB2|Ku86|NFIV
Cytomap

18q23

2q35

Type of geneprotein-codingprotein-coding
Descriptionputative ribosome-binding factor A, mitochondrialribosome binding factor A (putative)X-ray repair cross-complementing protein 586 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 2ATP-dependent DNA helicase II 80 kDa subunitCTC box-binding factor 85 kDa subunitCTC85CTCBFDNA repair protein XRCC5Ku autoantigen, 80kDaKu
Modification date2018051920180523
UniProtAcc

Q8N0V3

P13010

Ensembl transtripts involved in fusion geneENST00000306735, ENST00000586847, 
ENST00000262197, 
ENST00000392133, 
ENST00000392132, ENST00000471649, 
Fusion gene scores* DoF score4 X 5 X 5=1006 X 5 X 3=90
# samples 77
** MAII scorelog2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/90*10)=-0.362570079384708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBFA [Title/Abstract] AND XRCC5 [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
TgeneXRCC5

GO:0002218

activation of innate immune response

28712728

TgeneXRCC5

GO:0006303

double-strand break repair via nonhomologous end joining

26359349

TgeneXRCC5

GO:0045860

positive regulation of protein kinase activity

22504299

TgeneXRCC5

GO:0071480

cellular response to gamma radiation

26359349


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
TCGALDLGGTCGA-FG-A711-01ARBFAchr18

77802219

+XRCC5chr2

217054948

+
* 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-shiftENST00000306735ENST00000392133RBFAchr18

77802219

+XRCC5chr2

217054948

+
Frame-shiftENST00000306735ENST00000392132RBFAchr18

77802219

+XRCC5chr2

217054948

+
5CDS-intronENST00000306735ENST00000471649RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-3CDSENST00000586847ENST00000392133RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-3CDSENST00000586847ENST00000392132RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-intronENST00000586847ENST00000471649RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-3CDSENST00000262197ENST00000392133RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-3CDSENST00000262197ENST00000392132RBFAchr18

77802219

+XRCC5chr2

217054948

+
intron-intronENST00000262197ENST00000471649RBFAchr18

77802219

+XRCC5chr2

217054948

+

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FusionProtFeatures for RBFA_XRCC5


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

Q8N0V3

XRCC5

P13010