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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: 4726

FusionGeneSummary for C16orf46_RBPJ

check button Fusion gene summary
Fusion gene informationFusion gene name: C16orf46_RBPJ
Fusion gene ID: 4726
HgeneTgene
Gene symbol

C16orf46

RBPJ

Gene ID

123775

3516

Gene namechromosome 16 open reading frame 46recombination signal binding protein for immunoglobulin kappa J region
Synonyms-AOS3|CBF1|IGKJRB|IGKJRB1|KBF2|RBP-J|RBPJK|RBPSUH|SUH|csl
Cytomap

16q23.2

4p15.2

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C16orf46recombining 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 date2018051920180525
UniProtAcc

Q6P387

Q06330

Ensembl transtripts involved in fusion geneENST00000378611, ENST00000299578, 
ENST00000444657, 		ENST00000345843, 
ENST00000342295, ENST00000361572, 
ENST00000348160, ENST00000355476, 
ENST00000511401, ENST00000507561, 
ENST00000504907, ENST00000342320, 
Fusion gene scores* DoF score1 X 1 X 1=17 X 7 X 4=196
# samples 17
** MAII scorelog2(1/1*10)=3.32192809488736log2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C16orf46 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneRBPJ

GO:0007221

positive regulation of transcription of Notch receptor target

21102556

TgeneRBPJ

GO:0045892

negative regulation of transcription, DNA-templated

10713164

TgeneRBPJ

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
TCGALDPRADTCGA-EJ-5527-01AC16orf46chr16

81094811

-RBPJchr4

26422173

+
* 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-shiftENST00000378611ENST00000345843C16orf46chr16

81094811

-RBPJchr4

26422173

+
Frame-shiftENST00000378611ENST00000342295C16orf46chr16

81094811

-RBPJchr4

26422173

+
Frame-shiftENST00000378611ENST00000361572C16orf46chr16

81094811

-RBPJchr4

26422173

+
Frame-shiftENST00000378611ENST00000348160C16orf46chr16

81094811

-RBPJchr4

26422173

+
Frame-shiftENST00000378611ENST00000355476C16orf46chr16

81094811

-RBPJchr4

26422173

+
5CDS-intronENST00000378611ENST00000511401C16orf46chr16

81094811

-RBPJchr4

26422173

+
5CDS-intronENST00000378611ENST00000507561C16orf46chr16

81094811

-RBPJchr4

26422173

+
5CDS-intronENST00000378611ENST00000504907C16orf46chr16

81094811

-RBPJchr4

26422173

+
5CDS-intronENST00000378611ENST00000342320C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000299578ENST00000345843C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000299578ENST00000342295C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000299578ENST00000361572C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000299578ENST00000348160C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000299578ENST00000355476C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000299578ENST00000511401C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000299578ENST00000507561C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000299578ENST00000504907C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000299578ENST00000342320C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000444657ENST00000345843C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000444657ENST00000342295C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000444657ENST00000361572C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000444657ENST00000348160C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-3CDSENST00000444657ENST00000355476C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000444657ENST00000511401C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000444657ENST00000507561C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000444657ENST00000504907C16orf46chr16

81094811

-RBPJchr4

26422173

+
intron-intronENST00000444657ENST00000342320C16orf46chr16

81094811

-RBPJchr4

26422173

+

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FusionProtFeatures for C16orf46_RBPJ


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C16orf46

Q6P387

RBPJ

Q06330

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 C16orf46_RBPJ


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 C16orf46_RBPJ


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
C16orf46FAT3RBPJNOTCH1, 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, TP53


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 C16orf46_RBPJ


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 C16orf46_RBPJ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRBPJC0003873Rheumatoid Arthritis2CTD_human
TgeneRBPJC0014175Endometriosis1CTD_human
TgeneRBPJC3553748ADAMS-OLIVER SYNDROME 31UNIPROT