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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: 37869

FusionGeneSummary for TFRC_JUP

check button Fusion gene summary
Fusion gene informationFusion gene name: TFRC_JUP
Fusion gene ID: 37869
HgeneTgene
Gene symbol

TFRC

JUP

Gene ID

7037

3728

Gene nametransferrin receptorjunction plakoglobin
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90CTNNG|DP3|DPIII|PDGB|PKGB
Cytomap

3q29

17q21.2

Type of geneprotein-codingprotein-coding
Descriptiontransferrin receptor protein 1junction plakoglobincatenin (cadherin-associated protein), gamma 80kDadesmoplakin IIIdesmoplakin-3
Modification date2018051920180523
UniProtAcc

P02786

P14923

Ensembl transtripts involved in fusion geneENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
ENST00000540235, ENST00000393930, 
ENST00000393931, ENST00000310706, 
Fusion gene scores* DoF score8 X 7 X 6=33621 X 22 X 8=3696
# samples 929
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/3696*10)=-3.67183995140112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TFRC [Title/Abstract] AND JUP [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
HgeneTFRC

GO:0030890

positive regulation of B cell proliferation

26642240

HgeneTFRC

GO:0031623

receptor internalization

26642240

HgeneTFRC

GO:0033572

transferrin transport

26642240

HgeneTFRC

GO:0035690

cellular response to drug

16254249

HgeneTFRC

GO:0042102

positive regulation of T cell proliferation

26642240

HgeneTFRC

GO:0045830

positive regulation of isotype switching

26642240

HgeneTFRC

GO:0097286

iron ion import

7556058

TgeneJUP

GO:0002159

desmosome assembly

22889254

TgeneJUP

GO:0042127

regulation of cell proliferation

17924338

TgeneJUP

GO:0042307

positive regulation of protein import into nucleus

10825188|14661054

TgeneJUP

GO:0050982

detection of mechanical stimulus

18937352

TgeneJUP

GO:0051091

positive regulation of DNA binding transcription factor activity

14661054

TgeneJUP

GO:0071681

cellular response to indole-3-methanol

10868478

TgeneJUP

GO:0098609

cell-cell adhesion

18937352


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
TCGALDHNSCTCGA-BA-5557-01ATFRCchr3

195808914

-JUPchr17

39928114

-
* 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-intronENST00000420415ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000420415ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000420415ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000420415ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-intronENST00000360110ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000360110ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000360110ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000360110ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-intronENST00000540528ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000540528ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000540528ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000540528ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-
intron-intronENST00000392396ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000392396ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000392396ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000392396ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-intronENST00000535031ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000535031ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000535031ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
5UTR-5UTRENST00000535031ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-
intron-intronENST00000465288ENST00000540235TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000465288ENST00000393930TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000465288ENST00000393931TFRCchr3

195808914

-JUPchr17

39928114

-
intron-5UTRENST00000465288ENST00000310706TFRCchr3

195808914

-JUPchr17

39928114

-

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FusionProtFeatures for TFRC_JUP


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

P02786

JUP

P14923

Cellular uptake of iron occurs via receptor-mediatedendocytosis of ligand-occupied transferrin receptor intospecialized endosomes. Endosomal acidification leads to ironrelease. The apotransferrin-receptor complex is then recycled tothe cell surface with a return to neutral pH and the concomitantloss of affinity of apotransferrin for its receptor. Transferrinreceptor is necessary for development of erythrocytes and thenervous system (By similarity). A second ligand, the heditaryhemochromatosis protein HFE, competes for binding with transferrinfor an overlapping C-terminal binding site. Positively regulates Tand B cell proliferation through iron uptake (PubMed:26642240).{ECO:0000250, ECO:0000269|PubMed:26642240,ECO:0000269|PubMed:3568132}. (Microbial infection) Acts as a receptor for new-worldarenaviruses: Guanarito, Junin and Machupo virus.{ECO:0000269|PubMed:17287727, ECO:0000269|PubMed:18268337}. Common junctional plaque protein. The membrane-associated plaques are architectural elements in an importantstrategic position to influence the arrangement and function ofboth the cytoskeleton and the cells within the tissue. Thepresence of plakoglobin in both the desmosomes and in theintermediate junctions suggests that it plays a central role inthe structure and function of submembranous plaques. Acts as asubstrate for VE-PTP and is required by it to stimulate VE-cadherin function in endothelial cells. Can replace beta-cateninin E-cadherin/catenin adhesion complexes which are proposed tocouple cadherins to the actin cytoskeleton (By similarity).{ECO:0000250}.

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 TFRC_JUP


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 TFRC_JUP


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
TFRCHFE, GABARAP, TFRC, TF, SVIP, PXK, RYK, BST2, HDAC5, LAPTM4A, LAPTM4B, OPTN, RAB8A, HGS, PARK2, SH3BP4, KCNA3, KCNA5, FBXO6, ATP6V1B1, ESR1, B4GALT1, FN1, VCAM1, ATF2, ITGA4, MYO1G, MARCH1, MARCH8, CLN3, ADRB2, RPA1, RPA2, RPA3, ASB4, LGR4, RANBP9, TP53, HUWE1, CAV1, SGTA, MDM2, CUL7, RNF2, EGFR, ZFP36, DLK1, NTRK1, TCTN3, RPGRIP1L, POC5, TMEM17, TMEM216, AHSA1, ERBB2, GJB2, PDGFRA, RAB5C, RAB7A, ATP6AP2, GOLT1B, ARFGAP1, AP2B1, SENP3, ESRRB, CDC73, COX15, PDHA1, TRIM25, LMNA, BRCA1, TESJUPBIRC2, WDYHV1, RIBC2, NFKBIE, CTNNBIP1, PHB2, LGALS9, CTNNB1, CDH1, CTNNA1, EGFR, MUC1, APC, CDH3, CDH5, CDH2, PTPN14, PKP3, RAB8B, ARHGDIA, DSG3, PKP2, DSG2, ERBB2, BTRC, DSC2, GJB1, DSC3, PECAM1, TCF7L2, DSP, DSG1, PTPRF, PTPRK, USP1, DSC1, INSIG2, CUL4B, CUL2, CDK2, COPS5, GRK5, ILF3, PLEC, ITGB4, PTRH2, B4GALT1, RPL21, DBN1, SLC25A44, ABCC2, NENF, IARS2, ILF2, DES, ESR1, CCDC130, ZFYVE9, PAN2, CTNNA3, BRCA1, NFATC4, MAPK7, CDK15, TARDBP, ATP6V1B2, C1QBP, CSDE1, GANAB, GMPPB, HSPA4, DPYSL3, MSH2, NARS, PDE3A, PLOD2, SAMHD1, ST13, TRMT1, XRCC5, XRCC6, WWOX, CDH10, FHL2, CUL7, OBSL1, CCDC8, EED, ABCE1, RAD51AP1, C21orf59, CCDC51, GMCL1, RBM24, HNRNPA1, NTRK1, CTNNA2, MSN, PTEN, CEP128, TMEM17, CAT, FLNA, MYH9, RAB7A, YEATS4, AXIN1, DYNLL1, ATP6AP2, SYNPO, GOLT1B, LIMA1, MRPL9, MCM2, MCM5, UBXN1, CDC73, PI4KA, GPATCH2L, CDH8, NPPA, PDE4DIP, OAZ3, BRF2, RBM3, CYLD, CREBBP, EP300, CDK1, COQ2, DLD, SDHA, SOAT1, TRIM25


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 TFRC_JUP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneTFRCP02786DB01592IronTransferrin receptor protein 1small moleculeapproved
TgeneJUPP14923DB01593ZincJunction plakoglobinsmall moleculeapproved|investigational

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RelatedDiseases for TFRC_JUP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTFRCC0162316Iron deficiency anemia3CTD_human
HgeneTFRCC0012715Iron Metabolism Disorders2CTD_human
HgeneTFRCC0028754Obesity2CTD_human
HgeneTFRCC0079487Helicobacter Infections2CTD_human
HgeneTFRCC1458155Mammary Neoplasms2CTD_human
HgeneTFRCC0000786Spontaneous abortion1CTD_human
HgeneTFRCC0003756Arenaviridae Infections1CTD_human
HgeneTFRCC0005283beta Thalassemia1CTD_human
HgeneTFRCC0005695Bladder Neoplasm1CTD_human
HgeneTFRCC0007621Neoplastic Cell Transformation1CTD_human
HgeneTFRCC0009404Colorectal Neoplasms1CTD_human
HgeneTFRCC0017638Glioma1CTD_human
HgeneTFRCC0021368Inflammation1CTD_human
HgeneTFRCC0023434Chronic Lymphocytic Leukemia1CTD_human
HgeneTFRCC0024121Lung Neoplasms1CTD_human
HgeneTFRCC0024305Lymphoma, Non-Hodgkin1CTD_human
HgeneTFRCC0027055Myocardial Reperfusion Injury1CTD_human
HgeneTFRCC0032460Polycystic Ovary Syndrome1CTD_human
HgeneTFRCC0085110Severe Combined Immunodeficiency1CTD_human
HgeneTFRCC0151744Myocardial Ischemia1CTD_human
HgeneTFRCC4225219IMMUNODEFICIENCY 461ORPHANET;UNIPROT
TgeneJUPC0023895Liver diseases1CTD_human
TgeneJUPC0033578Prostatic Neoplasms1CTD_human
TgeneJUPC0232347No-Reflow Phenomenon1CTD_human
TgeneJUPC1969081Arrhythmogenic Right Ventricular Dysplasia, Familial, 121CTD_human;UNIPROT