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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: 30827

FusionGeneSummary for RBPJ_C16orf46

check button Fusion gene summary
Fusion gene informationFusion gene name: RBPJ_C16orf46
Fusion gene ID: 30827
HgeneTgene
Gene symbol

RBPJ

C16orf46

Gene ID

3516

123775

Gene namerecombination signal binding protein for immunoglobulin kappa J regionchromosome 16 open reading frame 46
SynonymsAOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl-
Cytomap

4p15.2

16q23.2

Type of geneprotein-codingprotein-coding
Descriptionrecombining 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 homologuncharacterized protein C16orf46
Modification date2018052520180519
UniProtAcc

Q06330

Q6P387

Ensembl transtripts involved in fusion geneENST00000345843, ENST00000342295, 
ENST00000361572, ENST00000348160, 
ENST00000355476, ENST00000511401, 
ENST00000507561, ENST00000504907, 
ENST00000342320, 		ENST00000378611, 
ENST00000299578, ENST00000444657, 
Fusion gene scores* DoF score7 X 6 X 4=1683 X 2 X 3=18
# samples 73
** MAII scorelog2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RBPJ [Title/Abstract] AND C16orf46 [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
HgeneRBPJ

GO:0007221

positive regulation of transcription of Notch receptor target

21102556

HgeneRBPJ

GO:0045892

negative regulation of transcription, DNA-templated

10713164

HgeneRBPJ

GO:0061419

positive regulation of transcription from RNA polymerase II promoter in response to hypoxia

23303788


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
TCGARVPRADTCGA-EJ-5527-01ARBPJchr4

26417262

+C16orf46chr16

81087699

-
* 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-shiftENST00000345843ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000345843ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000345843ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000342295ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000342295ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000342295ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000361572ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000361572ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000361572ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000348160ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000348160ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000348160ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000355476ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000355476ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000355476ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000511401ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000511401ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000511401ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000507561ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000507561ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000507561ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000504907ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000504907ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000504907ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-
Frame-shiftENST00000342320ENST00000378611RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000342320ENST00000299578RBPJchr4

26417262

+C16orf46chr16

81087699

-
5CDS-intronENST00000342320ENST00000444657RBPJchr4

26417262

+C16orf46chr16

81087699

-

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FusionProtFeatures for RBPJ_C16orf46


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

Q06330

C16orf46

Q6P387

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}.

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 RBPJ_C16orf46


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 RBPJ_C16orf46


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
RBPJNOTCH1, SNW1, SIN3A, SND1, CIR1, KAT2B, KAT2A, NCOR2, NOTCH2, SPEN, MECP2, KDM5A, GSK3B, RPS6KA6, GADD45A, RUNX3, RUNX1T1, KAT5, ELAVL1, BCL6B, APP, KDM1A, PHF8, SMARCA4, MAML1, FHL1, CAMK4, MYC, MED27, NOTCH3, PTF1A, WDR70, USP7, FBXO42, ZNF589, DCAF16, ZNF268, HSPB1, MAML3, MAML2, MED23, XPO1, CLPTM1, RNF20, LCOR, L3MBTL3, SAMD1, RECQL, FNBP1, HMG20B, NKX6-1, TPX2, PHF21A, SMARCA5, JMJD1C, SFMBT1, RCC1, SMARCA1, HOXA10, HOXB9, PSIP1, CUX1, DLX5, FNBP1L, H2AFY, HDAC2, KDM2A, NKX2-5, SATB2, TPM1, ZBTB10, ALX4, CHAF1B, CHD4, DEK, GTF3C5, HOXC13, HOXD13, KIF2C, MAP7D3, NFIA, SATB1, TBP, TFAP4, TXNDC5, ADNP, ARID3B, RITA1, CAMSAP1, CDC27, CGGBP1, CREM, GATAD2A, GTF3C4, MBD1, MBD2, MYH7, NACC1, NFATC1, NFIC, NFIX, NR2F2, OGT, PATZ1, PBX1, PITX2, RANGAP1, TPM2, ZNF143, SEPSECS, DDX24, POP1, USP47, CFDP1, RPA2, ADAR, CUL1, SART3, RND3, ZMIZ1, NSMF, CAMK2D, FANCG, FANCA, TP53C16orf46FAT3


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 RBPJ_C16orf46


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 RBPJ_C16orf46


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRBPJC0003873Rheumatoid Arthritis2CTD_human
HgeneRBPJC0014175Endometriosis1CTD_human
HgeneRBPJC3553748ADAMS-OLIVER SYNDROME 31UNIPROT