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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: 31068

FusionGeneSummary for RFX3_TFDP1

check button Fusion gene summary
Fusion gene informationFusion gene name: RFX3_TFDP1
Fusion gene ID: 31068
HgeneTgene
Gene symbol

RFX3

TFDP1

Gene ID

5991

7027

Gene nameregulatory factor X3transcription factor Dp-1
Synonyms-DILC|DP1|DRTF1|Dp-1
Cytomap

9p24.2

13q34

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor RFX3DNA binding protein RFX3regulatory factor X, 3 (influences HLA class II expression)transcription factor Dp-1DRTF1-polypeptide 1E2F dimerization partner 1E2F-related transcription factordown-regulated in liver cancer stem cells
Modification date2018052320180523
UniProtAcc

P48380

Q14186

Ensembl transtripts involved in fusion geneENST00000382004, ENST00000358730, 
ENST00000302303, ENST00000381984, 
ENST00000375370, ENST00000538138, 
ENST00000465174, ENST00000544902, 
Fusion gene scores* DoF score10 X 5 X 7=3506 X 4 X 6=144
# samples 107
** MAII scorelog2(10/350*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/144*10)=-1.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RFX3 [Title/Abstract] AND TFDP1 [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
HgeneRFX3

GO:0045892

negative regulation of transcription, DNA-templated

12411430

HgeneRFX3

GO:0045893

positive regulation of transcription, DNA-templated

20148032

TgeneTFDP1

GO:0045944

positive regulation of transcription by RNA polymerase II

7739537


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
TCGARVCOADTCGA-D5-6536-01ARFX3chr9

3525747

-TFDP1chr13

114265311

+
* 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
5UTR-3CDSENST00000382004ENST00000375370RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-5UTRENST00000382004ENST00000538138RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-3UTRENST00000382004ENST00000465174RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-5UTRENST00000382004ENST00000544902RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-3CDSENST00000358730ENST00000375370RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-5UTRENST00000358730ENST00000538138RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-3UTRENST00000358730ENST00000465174RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-5UTRENST00000358730ENST00000544902RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-3CDSENST00000302303ENST00000375370RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-5UTRENST00000302303ENST00000538138RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-3UTRENST00000302303ENST00000465174RFX3chr9

3525747

-TFDP1chr13

114265311

+
5UTR-5UTRENST00000302303ENST00000544902RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-3CDSENST00000381984ENST00000375370RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-5UTRENST00000381984ENST00000538138RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-3UTRENST00000381984ENST00000465174RFX3chr9

3525747

-TFDP1chr13

114265311

+
intron-5UTRENST00000381984ENST00000544902RFX3chr9

3525747

-TFDP1chr13

114265311

+

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FusionProtFeatures for RFX3_TFDP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RFX3

P48380

TFDP1

Q14186

Can stimulate E2F-dependent transcription. Binds DNAcooperatively with E2F family members through the E2 recognitionsite, 5'-TTTC[CG]CGC-3', found in the promoter region of a numberof genes whose products are involved in cell cycle regulation orin DNA replication (PubMed:8405995, PubMed:7739537). The E2F1:DPcomplex appears to mediate both cell proliferation and apoptosis.Blocks adipocyte differentiation by repressing CEBPA binding toits target gene promoters (PubMed:20176812).{ECO:0000269|PubMed:20176812, ECO:0000269|PubMed:7739537,ECO:0000269|PubMed:8405995}.

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 RFX3_TFDP1


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 RFX3_TFDP1


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
RFX3TRAF2, RFX6, RFX4, BIN1, CREB1, EWSR1, IRF6, PKNOX1, SOX2, FHL2, FHL3, TRIP6, SEC63, PABPC5, FOXJ1, FOXJ2, FOXN3, FAM188A, IGSF8, RFX1, HDAC1, XYLT2, RTCB, MTA2, PTOV1, DDX1, TBC1D32, VPS45, TAF6L, MBD2, CDK20, ACAD9, HDAC2, TMED4, CFAP20, PLK1TFDP1E2F6, E2F5, TP53BP1, TP53, NPDC1, CDK3, E2F1, E2F4, RB1, RBL1, RBL2, LIN9, LIN37, LIN54, ELAVL1, PCGF6, RNF2, RYBP, YAF2, SOCS3, CDK2, CDK1, PRPF31, E2F2, E2F3, CDK6, SIAH1, CREBBP, CDC20, CDC27, ANAPC5, MIER2, COMMD4, CDT1, MAX, L3MBTL2, GGA1, COMMD8, COMMD1, GMNN, COMMD6, HDAC1


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 RFX3_TFDP1


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 RFX3_TFDP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRFX3C0037274Dermatologic disorders1CTD_human
HgeneRFX3C0311375Arsenic Poisoning1CTD_human
TgeneTFDP1C3495559Juvenile arthritis1CTD_human