	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 6214

FusionGeneSummary for CD59_RBPJ

Fusion gene summary

Fusion gene information	Fusion gene name: CD59_RBPJ
	Fusion gene ID: 6214
		Hgene	Tgene
	Gene symbol	CD59	RBPJ
	Gene ID	966	3516
	Gene name	CD59 molecule (CD59 blood group)	recombination signal binding protein for immunoglobulin kappa J region
	Synonyms	16.3A5\|1F5\|EJ16\|EJ30\|EL32\|G344\|HRF-20\|HRF20\|MAC-IP\|MACIF\|MEM43\|MIC11\|MIN1\|MIN2\|MIN3\|MIRL\|MSK21\|p18-20	AOS3\|CBF1\|IGKJRB\|IGKJRB1\|KBF2\|RBP-J\|RBPJK\|RBPSUH\|SUH\|csl
	Cytomap	11p13	4p15.2
	Type of gene	protein-coding	protein-coding
	Description	CD59 glycoprotein1F5 antigen20 kDa homologous restriction factorCD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)CD59 molecule, complement regulatory proteinLy-6-like proteinMEM43 antigenT cell-acti	recombining binding protein suppressor of hairlessCBF-1H-2K binding factor-2RBP-J kappaRBP-JKimmunoglobulin kappa J region recombination signal binding protein 1renal carcinoma antigen NY-REN-30suppressor of hairless homolog
	Modification date	20180523	20180525
	UniProtAcc	P13987	Q06330
	Ensembl transtripts involved in fusion gene	ENST00000534312, ENST00000395850, ENST00000533403, ENST00000351554, ENST00000415002, ENST00000445143, ENST00000426650, ENST00000437761, ENST00000527577, ENST00000528700,	ENST00000345843, ENST00000342295, ENST00000361572, ENST00000348160, ENST00000355476, ENST00000511401, ENST00000507561, ENST00000504907, ENST00000342320,
Fusion gene scores	* DoF score	5 X 8 X 2=80	7 X 7 X 4=196
	# samples	14	7
	** MAII score	log2(14/80*10)=0.807354922057604 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(7/196*10)=-1.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: CD59 [Title/Abstract] AND RBPJ [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	RBPJ	GO:0007221	positive regulation of transcription of Notch receptor target	21102556
Tgene	RBPJ	GO:0045892	negative regulation of transcription, DNA-templated	10713164
Tgene	RBPJ	GO:0061419	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	23303788

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS3.1			BF997054	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3CDS	ENST00000534312	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000534312	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000534312	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000534312	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000534312	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000534312	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000534312	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000534312	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000534312	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000395850	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000395850	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000395850	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000395850	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000395850	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000395850	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000395850	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000395850	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000395850	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000533403	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000533403	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000533403	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000533403	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000533403	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000533403	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000533403	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000533403	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000533403	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000351554	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000351554	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000351554	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000351554	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000351554	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000351554	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000351554	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000351554	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000351554	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000415002	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000415002	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000415002	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000415002	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000415002	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000415002	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000415002	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000415002	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000415002	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000445143	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000445143	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000445143	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000445143	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000445143	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000445143	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000445143	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000445143	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000445143	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000426650	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000426650	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000426650	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000426650	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000426650	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000426650	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000426650	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000426650	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000426650	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000437761	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000437761	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000437761	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000437761	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000437761	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000437761	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000437761	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000437761	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000437761	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000527577	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000527577	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000527577	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000527577	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000527577	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000527577	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000527577	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000527577	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000527577	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000528700	ENST00000345843	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000528700	ENST00000342295	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000528700	ENST00000361572	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000528700	ENST00000348160	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-3CDS	ENST00000528700	ENST00000355476	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000528700	ENST00000511401	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000528700	ENST00000507561	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000528700	ENST00000504907	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+
intron-intron	ENST00000528700	ENST00000342320	CD59	chr11	33743973	+	RBPJ	chr4	26432077	+

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FusionProtFeatures for CD59_RBPJ

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
CD59 P13987	RBPJ Q06330
Potent inhibitor of the complement membrane attackcomplex (MAC) action. Acts by binding to the C8 and/or C9complements of the assembling MAC, thereby preventingincorporation of the multiple copies of C9 required for completeformation of the osmolytic pore. This inhibitor appears to bespecies-specific. Involved in signal transduction for T-cellactivation complexed to a protein tyrosine kinase. The soluble form from urine retains its specificcomplement binding activity, but exhibits greatly reduced abilityto inhibit MAC assembly on cell membranes.	Transcriptional regulator that plays a central role inNotch signaling, a signaling pathway involved in cell-cellcommunication that regulates a broad spectrum of cell-fatedeterminations. Acts as a transcriptional repressor when it is notassociated with Notch proteins. When associated with some NICDproduct of Notch proteins (Notch intracellular domain), it acts asa transcriptional activator that activates transcription of Notchtarget genes. Probably represses or activates transcription viathe recruitment of chromatin remodeling complexes containinghistone deacetylase or histone acetylase proteins, respectively.Specifically binds to the immunoglobulin kappa-type J segmentrecombination signal sequence. Binds specifically to methylatedDNA (PubMed:21991380). Binds to the oxygen responsive element ofCOX4I2 and activates its transcription under hypoxia conditions(4% oxygen) (PubMed:23303788). Negatively regulates the phagocyteoxidative burst in response to bacterial infection by repressingtranscription of NADPH oxidase subunits (By similarity).{ECO:0000250\|UniProtKB:P31266, ECO:0000269\|PubMed:21991380,ECO:0000269\|PubMed:23303788}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for CD59_RBPJ

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 CD59_RBPJ

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for CD59_RBPJ

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for CD59_RBPJ

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	CD59	C2676767	CD59 Deficiency	1	CTD_human;ORPHANET;UNIPROT
Tgene	RBPJ	C0003873	Rheumatoid Arthritis	2	CTD_human
Tgene	RBPJ	C0014175	Endometriosis	1	CTD_human
Tgene	RBPJ	C3553748	ADAMS-OLIVER SYNDROME 3	1	UNIPROT

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Fusion gene ID: 6214

FusionGeneSummary for CD59_RBPJ

FusionProtFeatures for CD59_RBPJ

FusionGeneSequence for CD59_RBPJ

FusionGenePPI for CD59_RBPJ

RelatedDrugs for CD59_RBPJ

RelatedDiseases for CD59_RBPJ