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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: 13095

FusionGeneSummary for FBXL20_NOTCH2

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXL20_NOTCH2
Fusion gene ID: 13095
HgeneTgene
Gene symbol

FBXL20

NOTCH2

Gene ID

84961

4853

Gene nameF-box and leucine rich repeat protein 20notch 2
SynonymsFbl2|Fbl20AGS2|HJCYS|hN2
Cytomap

17q12

1p12

Type of geneprotein-codingprotein-coding
DescriptionF-box/LRR-repeat protein 20F-box protein FBL2neurogenic locus notch homolog protein 2Notch homolog 2
Modification date2018052320180519
UniProtAcc

Q96IG2

Q04721

Ensembl transtripts involved in fusion geneENST00000583610, ENST00000394294, 
ENST00000264658, ENST00000577399, 
ENST00000256646, ENST00000602566, 
ENST00000493703, 
Fusion gene scores* DoF score40 X 12 X 14=67209 X 7 X 3=189
# samples 389
** MAII scorelog2(38/6720*10)=-4.14438990933518
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/189*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBXL20 [Title/Abstract] AND NOTCH2 [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
TgeneNOTCH2

GO:0007050

cell cycle arrest

11306509

TgeneNOTCH2

GO:0007219

Notch signaling pathway

11306509|25985737

TgeneNOTCH2

GO:0010629

negative regulation of gene expression

11306509

TgeneNOTCH2

GO:0045967

negative regulation of growth rate

11306509

TgeneNOTCH2

GO:0046579

positive regulation of Ras protein signal transduction

11306509

TgeneNOTCH2

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11306509


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
TCGARVBRCATCGA-AR-A254-01AFBXL20chr17

37557614

-NOTCH2chr1

120465401

-
TCGALDBRCATCGA-AR-A254-01AFBXL20chr17

37558426

-NOTCH2chr1

120465401

-
* 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-shitENST00000583610ENST00000256646FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-intronENST00000583610ENST00000602566FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-5UTRENST00000583610ENST00000493703FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
Frame-shitENST00000394294ENST00000256646FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-intronENST00000394294ENST00000602566FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-5UTRENST00000394294ENST00000493703FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
Frame-shitENST00000264658ENST00000256646FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-intronENST00000264658ENST00000602566FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
5CDS-5UTRENST00000264658ENST00000493703FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
intron-3CDSENST00000577399ENST00000256646FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
intron-intronENST00000577399ENST00000602566FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
intron-5UTRENST00000577399ENST00000493703FBXL20chr17

37557614

-NOTCH2chr1

120465401

-
intron-3CDSENST00000583610ENST00000256646FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-intronENST00000583610ENST00000602566FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-5UTRENST00000583610ENST00000493703FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-3CDSENST00000394294ENST00000256646FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-intronENST00000394294ENST00000602566FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-5UTRENST00000394294ENST00000493703FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-3CDSENST00000264658ENST00000256646FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-intronENST00000264658ENST00000602566FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
intron-5UTRENST00000264658ENST00000493703FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
Frame-shitENST00000577399ENST00000256646FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
5CDS-intronENST00000577399ENST00000602566FBXL20chr17

37558426

-NOTCH2chr1

120465401

-
5CDS-5UTRENST00000577399ENST00000493703FBXL20chr17

37558426

-NOTCH2chr1

120465401

-

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FusionProtFeatures for FBXL20_NOTCH2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXL20

Q96IG2

NOTCH2

Q04721

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. Role in neuraltransmission (By similarity). {ECO:0000250}. Functions as a receptor for membrane-bound ligandsJagged1, Jagged2 and Delta1 to regulate cell-fate determination.Upon ligand activation through the released notch intracellulardomain (NICD) it forms a transcriptional activator complex withRBPJ/RBPSUH and activates genes of the enhancer of split locus.Affects the implementation of differentiation, proliferation andapoptotic programs (By similarity). Involved in bone remodelingand homeostasis. In collaboration with RELA/p65 enhances NFATc1promoter activity and positively regulates RANKL-inducedosteoclast differentiation (PubMed:29149593). Positively regulatesself-renewal of liver cancer cells (PubMed:25985737).{ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985,ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737,ECO:0000269|PubMed:29149593}.

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 FBXL20_NOTCH2


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 FBXL20_NOTCH2


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
FBXL20CUL1, KRAS, YPEL3, PVR, YPEL1, RABGGTBNOTCH2CNTN1, GSK3B, JAG1, DLL1, RBPJ, MAML1, JAG2, CRKL, MYOC, SPEN, NDUFV2, NDUFV1, SEC24C, PCMT1, PSMB1, TJP1, SIN3A, PLAUR, NOTCH1, SMAD1, EGFL7, ANKRD28, LATS2, ASB14, ANKRD44, RABGGTB, ZFP41, EEF2, MLLT4, ATP2A2, CDC42, MSN, RDX, PDIA6, CST6, EPSTI1, FAM84B, IL13RA2, IL24, ITIH5, KLK5, MTA3, PSMC3IP, ST14, TMEM17, FBXL17, CDH1, VASN, LRRIQ1, AGRP


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 FBXL20_NOTCH2


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 FBXL20_NOTCH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNOTCH2C0917715Hajdu-Cheney Syndrome2CTD_human;ORPHANET
TgeneNOTCH2C0004114Astrocytoma1CTD_human
TgeneNOTCH2C0007873Uterine Cervical Neoplasm1CTD_human
TgeneNOTCH2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneNOTCH2C0017636Glioblastoma1CTD_human
TgeneNOTCH2C0024121Lung Neoplasms1CTD_human
TgeneNOTCH2C0206663Neuroectodermal Tumor, Primitive1CTD_human
TgeneNOTCH2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneNOTCH2C1458155Mammary Neoplasms1CTD_human
TgeneNOTCH2C1857761Alagille Syndrome 21ORPHANET;UNIPROT