FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 37871

FusionGeneSummary for TFRC_TFRC

check button Fusion gene summary
Fusion gene informationFusion gene name: TFRC_TFRC
Fusion gene ID: 37871
HgeneTgene
Gene symbol

TFRC

TFRC

Gene ID

7037

7037

Gene nametransferrin receptortransferrin receptor
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90CD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90
Cytomap

3q29

3q29

Type of geneprotein-codingprotein-coding
Descriptiontransferrin receptor protein 1transferrin receptor protein 1
Modification date2018051920180519
UniProtAcc

P02786

P02786

Ensembl transtripts involved in fusion geneENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
ENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
Fusion gene scores* DoF score8 X 7 X 6=3362 X 2 X 2=8
# samples 92
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: TFRC [Title/Abstract] AND TFRC [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

TgeneTFRC

GO:0030890

positive regulation of B cell proliferation

26642240

TgeneTFRC

GO:0031623

receptor internalization

26642240

TgeneTFRC

GO:0033572

transferrin transport

26642240

TgeneTFRC

GO:0035690

cellular response to drug

16254249

TgeneTFRC

GO:0042102

positive regulation of T cell proliferation

26642240

TgeneTFRC

GO:0045830

positive regulation of isotype switching

26642240

TgeneTFRC

GO:0097286

iron ion import

7556058


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
ChiTaRS3.1BU661402TFRCchr3

195783539

-TFRCchr3

195790555

-
* 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
intron-intronENST00000420415ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000420415ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000420415ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000420415ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000420415ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000420415ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000360110ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000540528ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000392396ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000535031ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000420415TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000360110TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000540528TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000392396TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000535031TFRCchr3

195783539

-TFRCchr3

195790555

-
intron-intronENST00000465288ENST00000465288TFRCchr3

195783539

-TFRCchr3

195790555

-

Top

FusionProtFeatures for TFRC_TFRC


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

P02786

TFRC

P02786

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}. 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}.

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


Top

FusionGeneSequence for TFRC_TFRC


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).

Top

FusionGenePPI for TFRC_TFRC


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


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


Top

RelatedDrugs for TFRC_TFRC


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
TgeneTFRCP02786DB01592IronTransferrin receptor protein 1small moleculeapproved

Top

RelatedDiseases for TFRC_TFRC


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
TgeneTFRCC0162316Iron deficiency anemia3CTD_human
TgeneTFRCC0012715Iron Metabolism Disorders2CTD_human
TgeneTFRCC0028754Obesity2CTD_human
TgeneTFRCC0079487Helicobacter Infections2CTD_human
TgeneTFRCC1458155Mammary Neoplasms2CTD_human
TgeneTFRCC0000786Spontaneous abortion1CTD_human
TgeneTFRCC0003756Arenaviridae Infections1CTD_human
TgeneTFRCC0005283beta Thalassemia1CTD_human
TgeneTFRCC0005695Bladder Neoplasm1CTD_human
TgeneTFRCC0007621Neoplastic Cell Transformation1CTD_human
TgeneTFRCC0009404Colorectal Neoplasms1CTD_human
TgeneTFRCC0017638Glioma1CTD_human
TgeneTFRCC0021368Inflammation1CTD_human
TgeneTFRCC0023434Chronic Lymphocytic Leukemia1CTD_human
TgeneTFRCC0024121Lung Neoplasms1CTD_human
TgeneTFRCC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneTFRCC0027055Myocardial Reperfusion Injury1CTD_human
TgeneTFRCC0032460Polycystic Ovary Syndrome1CTD_human
TgeneTFRCC0085110Severe Combined Immunodeficiency1CTD_human
TgeneTFRCC0151744Myocardial Ischemia1CTD_human
TgeneTFRCC4225219IMMUNODEFICIENCY 461ORPHANET;UNIPROT