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: 37865

FusionGeneSummary for TFRC_CPA3

check button Fusion gene summary
Fusion gene informationFusion gene name: TFRC_CPA3
Fusion gene ID: 37865
HgeneTgene
Gene symbol

TFRC

CPA3

Gene ID

7037

51200

Gene nametransferrin receptorcarboxypeptidase A4
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90CPA3
Cytomap

3q29

7q32.2

Type of geneprotein-codingprotein-coding
Descriptiontransferrin receptor protein 1carboxypeptidase A4carboxypeptidase A3
Modification date2018051920180523
UniProtAcc

P02786

P15088

Ensembl transtripts involved in fusion geneENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
ENST00000296046, 
Fusion gene scores* DoF score8 X 7 X 6=3361 X 1 X 1=1
# samples 91
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: TFRC [Title/Abstract] AND CPA3 [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


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
TCGARVLUSCTCGA-22-5474-01ATFRCchr3

195787051

-CPA3chr3

148614307

+
* 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-shitENST00000420415ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+
In-frameENST00000360110ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+
3UTR-3CDSENST00000540528ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+
Frame-shitENST00000392396ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+
Frame-shitENST00000535031ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+
5UTR-3CDSENST00000465288ENST00000296046TFRCchr3

195787051

-CPA3chr3

148614307

+

Top

FusionProtFeatures for TFRC_CPA3


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

P02786

CPA3

P15088

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_CPA3


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.
>In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_574aa
MMDQARSAFSNLFGGEPLSTTRFSLARQVDGDNSHVEMKLAVDEEENADNNTKANVTKPKRCSGSICTGTIAVIVFFLIGFMIGYLGTCK
GVEPKTECERLAGTESPVREEPGEDFPAARRLTWDDLKRKLSEKLDSTDFTGTIKLLNENSTVPREAGSQKDENLALTVENQFREFKLSK
VWRDQHFVKIQVKDSAQNSVIIVDKNGRLVYLVENPGGTVATSKAATVTGKLVHANFGTKKDFEDLYTPVNGSIVIVRAGKITFAEKVAN
AESLNAIGVLIYMDQTKFPIVNAELSFFGHAHLGTGDPYTPGFPSFNHTQFPPSRSSGLPNIPVQTISRAAAEKLFGNMEGDCPSDWKTD
STCRMVTSESKNVKLTVSNVLKEIKILNIFGVIKGFVEPDHTVVVGAQRDAWGPGAAKSGVGTALLLKLAQMFSDMVLKDGFQPSRSIIF
ASWSAGDFGSVGATEWLEGYLSSLHLKAFTTINLDKAVLGTSNFKVSASPLLTTLIEKTMQNTRTQVLL_TGLMTWASNTHLPLSSEIKA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_1724nt
ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGTTTGGTGGAGAACCATTGTCATATACCCGGTTCAGCCTGGCTCGGCAAGTAGAT
GGCGATAACAGTCATGTGGAGATGAAACTTGCTGTAGATGAAGAAGAAAATGCTGACAATAACACAAAGGCCAATGTCACAAAACCAAAA
AGGTGTAGTGGAAGTATCTGCTATGGGACTATTGCTGTGATCGTCTTTTTCTTGATTGGATTTATGATTGGCTACTTGGGCTATTGTAAA
GGGGTAGAACCAAAAACTGAGTGTGAGAGACTGGCAGGAACCGAGTCTCCAGTGAGGGAGGAGCCAGGAGAGGACTTCCCTGCAGCACGT
CGCTTATATTGGGATGACCTGAAGAGAAAGTTGTCGGAGAAACTGGACAGCACAGACTTCACCGGCACCATCAAGCTGCTGAATGAAAAT
TCATATGTCCCTCGTGAGGCTGGATCTCAAAAAGATGAAAATCTTGCGTTGTATGTTGAAAATCAATTTCGTGAATTTAAACTCAGCAAA
GTCTGGCGTGATCAACATTTTGTTAAGATTCAGGTCAAAGACAGCGCTCAAAACTCGGTGATCATAGTTGATAAGAACGGTAGACTTGTT
TACCTGGTGGAGAATCCTGGGGGTTATGTGGCGTATAGTAAGGCTGCAACAGTTACTGGTAAACTGGTCCATGCTAATTTTGGTACTAAA
AAAGATTTTGAGGATTTATACACTCCTGTGAATGGATCTATAGTGATTGTCAGAGCAGGGAAAATCACCTTTGCAGAAAAGGTTGCAAAT
GCTGAAAGCTTAAATGCAATTGGTGTGTTGATATACATGGACCAGACTAAATTTCCCATTGTTAACGCAGAACTTTCATTCTTTGGACAT
GCTCATCTGGGGACAGGTGACCCTTACACACCTGGATTCCCTTCCTTCAATCACACTCAGTTTCCACCATCTCGGTCATCAGGATTGCCT
AATATACCTGTCCAGACAATCTCCAGAGCTGCTGCAGAAAAGCTGTTTGGGAATATGGAAGGAGACTGTCCCTCTGACTGGAAAACAGAC
TCTACATGTAGGATGGTAACCTCAGAAAGCAAGAATGTGAAGCTCACTGTGAGCAATGTGCTGAAAGAGATAAAAATTCTTAACATCTTT
GGAGTTATTAAAGGCTTTGTAGAACCAGATCACTATGTTGTAGTTGGGGCCCAGAGAGATGCATGGGGCCCTGGAGCTGCAAAATCCGGT
GTAGGCACAGCTCTCCTATTGAAACTTGCCCAGATGTTCTCAGATATGGTCTTAAAAGATGGGTTTCAGCCCAGCAGAAGCATTATCTTT
GCCAGTTGGAGTGCTGGAGACTTTGGATCGGTTGGTGCCACTGAATGGCTAGAGGGATACCTTTCGTCCCTGCATTTAAAGGCTTTCACT
TATATTAATCTGGATAAAGCGGTTCTTGGTACCAGCAACTTCAAGGTTTCTGCCAGCCCACTGTTGTATACGCTTATTGAGAAAACAATG
CAAAATACCCGATATCAGGTTCTTCTTTAGACTGGGCTTATGACCTGGGCATCAAACACACATTTGCCTTTGAGCTCCGAGATAAAGGCA
AATTTGGTTTTCTCCTTCCAGAATCCCGGATAAAGCCAACGTGCAGAGAGACCATGCTAGCTGTCAAATTTATTGCCAAGTATATCCTCA


* Fusion transcript sequences (Full-length transcript).
>In-frame_TFRC_ENST00000360110_chr3_195787051_-_CPA3_ENST00000296046_chr3_148614307_+_2383nt
CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC
CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC
AAGCTAGATCAGCATTCTCTAACTTGTTTGGTGGAGAACCATTGTCATATACCCGGTTCAGCCTGGCTCGGCAAGTAGATGGCGATAACA
GTCATGTGGAGATGAAACTTGCTGTAGATGAAGAAGAAAATGCTGACAATAACACAAAGGCCAATGTCACAAAACCAAAAAGGTGTAGTG
GAAGTATCTGCTATGGGACTATTGCTGTGATCGTCTTTTTCTTGATTGGATTTATGATTGGCTACTTGGGCTATTGTAAAGGGGTAGAAC
CAAAAACTGAGTGTGAGAGACTGGCAGGAACCGAGTCTCCAGTGAGGGAGGAGCCAGGAGAGGACTTCCCTGCAGCACGTCGCTTATATT
GGGATGACCTGAAGAGAAAGTTGTCGGAGAAACTGGACAGCACAGACTTCACCGGCACCATCAAGCTGCTGAATGAAAATTCATATGTCC
CTCGTGAGGCTGGATCTCAAAAAGATGAAAATCTTGCGTTGTATGTTGAAAATCAATTTCGTGAATTTAAACTCAGCAAAGTCTGGCGTG
ATCAACATTTTGTTAAGATTCAGGTCAAAGACAGCGCTCAAAACTCGGTGATCATAGTTGATAAGAACGGTAGACTTGTTTACCTGGTGG
AGAATCCTGGGGGTTATGTGGCGTATAGTAAGGCTGCAACAGTTACTGGTAAACTGGTCCATGCTAATTTTGGTACTAAAAAAGATTTTG
AGGATTTATACACTCCTGTGAATGGATCTATAGTGATTGTCAGAGCAGGGAAAATCACCTTTGCAGAAAAGGTTGCAAATGCTGAAAGCT
TAAATGCAATTGGTGTGTTGATATACATGGACCAGACTAAATTTCCCATTGTTAACGCAGAACTTTCATTCTTTGGACATGCTCATCTGG
GGACAGGTGACCCTTACACACCTGGATTCCCTTCCTTCAATCACACTCAGTTTCCACCATCTCGGTCATCAGGATTGCCTAATATACCTG
TCCAGACAATCTCCAGAGCTGCTGCAGAAAAGCTGTTTGGGAATATGGAAGGAGACTGTCCCTCTGACTGGAAAACAGACTCTACATGTA
GGATGGTAACCTCAGAAAGCAAGAATGTGAAGCTCACTGTGAGCAATGTGCTGAAAGAGATAAAAATTCTTAACATCTTTGGAGTTATTA
AAGGCTTTGTAGAACCAGATCACTATGTTGTAGTTGGGGCCCAGAGAGATGCATGGGGCCCTGGAGCTGCAAAATCCGGTGTAGGCACAG
CTCTCCTATTGAAACTTGCCCAGATGTTCTCAGATATGGTCTTAAAAGATGGGTTTCAGCCCAGCAGAAGCATTATCTTTGCCAGTTGGA
GTGCTGGAGACTTTGGATCGGTTGGTGCCACTGAATGGCTAGAGGGATACCTTTCGTCCCTGCATTTAAAGGCTTTCACTTATATTAATC
TGGATAAAGCGGTTCTTGGTACCAGCAACTTCAAGGTTTCTGCCAGCCCACTGTTGTATACGCTTATTGAGAAAACAATGCAAAATACCC
GATATCAGGTTCTTCTTTAGACTGGGCTTATGACCTGGGCATCAAACACACATTTGCCTTTGAGCTCCGAGATAAAGGCAAATTTGGTTT
TCTCCTTCCAGAATCCCGGATAAAGCCAACGTGCAGAGAGACCATGCTAGCTGTCAAATTTATTGCCAAGTATATCCTCAAGCATACTTC
CTAAAGAACTGCCCTCTGTTTGGAATAAGCCAATTAATCCTTTTTTGTGCCTTTCATCAGAAAGTCAATCTTCAGTTATCCCCAAATGCA
GCTTCTATTTCACCTGAATCCTTCTCTTGCTCATTTAAGTCCCATGTTACTGCTGTTTGCTTTTACTTACTTTCAGTAGCACCATAACGA
AGTAGCTTTAAGTGAAACCTTTTAACTACCTTTCTTTGCTCCAAGTGAAGTTTGGACCCAGCAGAAAGCATTATTTTGAAAGGTGATATA
CAGTGGGGCACAGAAAACAAATGAAAACCTTCAGTTTCTCACAGATTTTCACCATGTGGCTTCATCAATTTATGTGCTAATACAATAAAA
TAAAATGCACTTAATGCTTTAAAATTCATCTTTTTATGATAAACTATATTCTCTGTATTTCTCTATAGCATTAATAATCAATATTAATGC


Top

FusionGenePPI for TFRC_CPA3


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, TESCPA3


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_CPA3


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

Top

RelatedDiseases for TFRC_CPA3


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