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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: 13074

FusionGeneSummary for FBXL19_RNF40

check button Fusion gene summary
Fusion gene informationFusion gene name: FBXL19_RNF40
Fusion gene ID: 13074
HgeneTgene
Gene symbol

FBXL19

RNF40

Gene ID

54620

9810

Gene nameF-box and leucine rich repeat protein 19ring finger protein 40
SynonymsCXXC11|Fbl19|JHDM1CBRE1B|RBP95|STARING
Cytomap

16p11.2

16p11.2

Type of geneprotein-codingprotein-coding
DescriptionF-box/LRR-repeat protein 19jumonji C domain-containing histone demethylase 1CE3 ubiquitin-protein ligase BRE1B95 kDa retinoblastoma protein binding protein95 kDa retinoblastoma-associated proteinBRE1 E3 ubiquitin ligase homolog BBRE1-BRING-type E3 ubiquitin transferase BRE1BRb-associated proteinring finger protein 40, E3 ub
Modification date2018051920180522
UniProtAcc

Q6PCT2

O75150

Ensembl transtripts involved in fusion geneENST00000471231, ENST00000338343, 
ENST00000562319, ENST00000380310, 
ENST00000565690, 		ENST00000324685, 
ENST00000402121, ENST00000563683, 
ENST00000357890, ENST00000567365, 
Fusion gene scores* DoF score5 X 4 X 4=802 X 3 X 2=12
# samples 63
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FBXL19 [Title/Abstract] AND RNF40 [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
HgeneFBXL19

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

22660580

TgeneRNF40

GO:0010390

histone monoubiquitination

16307923

TgeneRNF40

GO:0033523

histone H2B ubiquitination

16307923


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
TCGARVCESCTCGA-DS-A1OC-01AFBXL19chr16

30941905

+RNF40chr16

30785259

+
* 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-shiftENST00000471231ENST00000324685FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000471231ENST00000402121FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000471231ENST00000563683FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000471231ENST00000357890FBXL19chr16

30941905

+RNF40chr16

30785259

+
5CDS-3UTRENST00000471231ENST00000567365FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000338343ENST00000324685FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000338343ENST00000402121FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000338343ENST00000563683FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000338343ENST00000357890FBXL19chr16

30941905

+RNF40chr16

30785259

+
5CDS-3UTRENST00000338343ENST00000567365FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000562319ENST00000324685FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000562319ENST00000402121FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000562319ENST00000563683FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000562319ENST00000357890FBXL19chr16

30941905

+RNF40chr16

30785259

+
5CDS-3UTRENST00000562319ENST00000567365FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000380310ENST00000324685FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000380310ENST00000402121FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000380310ENST00000563683FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000380310ENST00000357890FBXL19chr16

30941905

+RNF40chr16

30785259

+
5CDS-3UTRENST00000380310ENST00000567365FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000565690ENST00000324685FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000565690ENST00000402121FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000565690ENST00000563683FBXL19chr16

30941905

+RNF40chr16

30785259

+
Frame-shiftENST00000565690ENST00000357890FBXL19chr16

30941905

+RNF40chr16

30785259

+
5CDS-3UTRENST00000565690ENST00000567365FBXL19chr16

30941905

+RNF40chr16

30785259

+

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FusionProtFeatures for FBXL19_RNF40


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBXL19

Q6PCT2

RNF40

O75150

Substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex. {ECO:0000250}. Component of the RNF20/40 E3 ubiquitin-protein ligasecomplex that mediates monoubiquitination of 'Lys-120' of histoneH2B (H2BK120ub1). H2BK120ub1 gives a specific tag for epigenetictranscriptional activation and is also prerequisite for histone H3'Lys-4' and 'Lys-79' methylation (H3K4me and H3K79me,respectively). It thereby plays a central role in histone code andgene regulation. The RNF20/40 complex forms a H2B ubiquitin ligasecomplex in cooperation with the E2 enzyme UBE2A or UBE2B; reportsabout the cooperation with UBE2E1/UBCH are contradictory. Requiredfor transcriptional activation of Hox genes.{ECO:0000269|PubMed:16307923, ECO:0000269|PubMed:19410543}.

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 FBXL19_RNF40


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 FBXL19_RNF40


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
FBXL19TRIM27, CBFA2T2, TRIM29, COL11A1, SKP1, STRADA, WDR44, EPS15P1, RAC3, PSME3, DENND2D, FGD1, SORT1, NSMAF, CTDSPL2, MED21, KIAA0430, HELZ, RNF20, RNF40, CDK9RNF40TRIM51, NCBP1, ZNF451, STX1A, UBE2L6, USP15, RNF20, WAC, TERF1, TERF2, AR, CDC73, ATM, ITSN1, HIST2H2BE, RB1, RNF40, UBE2E1, NOTCH1, HSP90AA1, UBE2A, MSL1, MSL2, PAF1, CDK9, UBE2B, UBE2I, AMOTL2, CCDC146, SFR1, NXF1, SIRT6, OIP5, SNAP29, MORC1, FCGR3A, TALDO1, TRABD, MBIP, DSN1, PLEKHO2, C17orf59, WNT4, IL36A, IER2, PLCG1, CIAPIN1, CMTR1, SEPT2, SNX2, TXNDC5, WDR61, XPNPEP1, NTRK1, ESR1, SUPT6H, KRAS, EWSR1, HSPA5, UBE2S, IWS1, KLC3, GTF2H5, KIF11, TRAIP, TCP10L, OLFM2, COG6, HNRNPLL, TEX13A, MED21, CCDC53, ZNF232, FAM196A, SNX32, NELL2, NUPL1, MTNR1B, FBXL19


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 FBXL19_RNF40


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 FBXL19_RNF40


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBXL19C0003872Arthritis, Psoriatic1CTD_human
HgeneFBXL19C0033860Psoriasis1CTD_human