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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: 37864

FusionGeneSummary for TFRC_BLOC1S5

check button Fusion gene summary
Fusion gene informationFusion gene name: TFRC_BLOC1S5
Fusion gene ID: 37864
HgeneTgene
Gene symbol

TFRC

BLOC1S5

Gene ID

7037

63915

Gene nametransferrin receptorbiogenesis of lysosomal organelles complex 1 subunit 5
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90BLOS5|MU|MUTED
Cytomap

3q29

6p24.3

Type of geneprotein-codingprotein-coding
Descriptiontransferrin receptor protein 1biogenesis of lysosome-related organelles complex 1 subunit 5BLOC-1 subunit 5biogenesis of lysosomal organelles complex-1, subunit 5, mutedmuted homologprotein Muted homolog
Modification date2018051920180523
UniProtAcc

P02786

Q8TDH9

Ensembl transtripts involved in fusion geneENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
ENST00000397457, ENST00000543936, 
ENST00000475998, 
Fusion gene scores* DoF score8 X 7 X 6=3363 X 2 X 3=18
# samples 93
** MAII scorelog2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TFRC [Title/Abstract] AND BLOC1S5 [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

TgeneBLOC1S5

GO:0032402

melanosome transport

17182842

TgeneBLOC1S5

GO:0035646

endosome to melanosome transport

17182842

TgeneBLOC1S5

GO:0050942

positive regulation of pigment cell differentiation

17182842


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
TCGALDPRADTCGA-G9-A9S7-01ATFRCchr3

195803935

-BLOC1S5chr6

8041501

-
* 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-3CDSENST00000420415ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5UTR-3CDSENST00000420415ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5UTR-intronENST00000420415ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
In-frameENST00000360110ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
In-frameENST00000360110ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5CDS-intronENST00000360110ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
In-frameENST00000540528ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
In-frameENST00000540528ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5CDS-intronENST00000540528ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
Frame-shitENST00000392396ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
Frame-shitENST00000392396ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5CDS-intronENST00000392396ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5UTR-3CDSENST00000535031ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5UTR-3CDSENST00000535031ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
5UTR-intronENST00000535031ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
intron-3CDSENST00000465288ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
intron-3CDSENST00000465288ENST00000543936TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
intron-intronENST00000465288ENST00000475998TFRCchr3

195803935

-BLOC1S5chr6

8041501

-

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FusionProtFeatures for TFRC_BLOC1S5


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

P02786

BLOC1S5

Q8TDH9

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}. Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicletrafficking. {ECO:0000269|PubMed:17182842}.

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_BLOC1S5


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_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_135aa
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

>In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_135aa
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_134aa
MDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQ

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_134aa
MDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHMLQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_405nt
ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATC
CATGAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAAT
GACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTC
CAGTGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAA

>In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_405nt
ATGATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATC
CATGAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAAT
GACTCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTC
CAGTGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAA

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_402nt
ATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCAT
GAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGAC
TCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAG
TGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATAT

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_402nt
ATGGATCAAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCAT
GAAACAAATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGAC
TCAGTCTGTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAG
TGGGACAACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_2657nt
CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC
CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC
AAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAA
ATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCT
GTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACA
ACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGA
TGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGA
AAACTATTCCCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACT
GGCATTCTGATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAA
GGAAAATGGAATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAG
AAAGATAATTTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCT
CCTTGGCTGTTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACAT
TTCAGAGAGGTGAGAGTGAACACATTGTCTCTGCTGTGGCAAAGATGGCCACGCTGGTGTTTGAGCTGCCTCTTGGGAAGCGTTGCATAT
TTTACAGTGCAGCATAATGCCATGGGCTTCCGTGGATGGGAAGACACATGTTAAGTTTTGTGGCCTTCCAGCACTTACTATTTTCAGCTT
TTTAAAGCATGCTTAGAAGGAAAAGCTTACCAAAAATATATTTTGACATTTAGTTTTTCCAAGAGCTATAATCTTGCCCATAGTATTTAC
CTCATTTTTGTGTCTGTTTTGCTGTGGGTAAGCTTTATAAGATAAATAATGTCTATACATGTTTCGACTGTTTAATGAGTAATCAACAAA
ATCTGCCAGAGAGTCCCTCTGGAACCATATAAAGTTCCTGGCTTTGAATGAACCAGAAGTGTTTGCCCACACAGCAAATGGTCCATGTTA
AATGTAAATCCTTTTTAGTGTTAATGTCTGTTCTCATAAGCAGGTATATTATGATGAAACATGTACCAGTTCTGTCATCACTGTGATCTT
TAAAAACCTGCATTTAACAGTCTAATTTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGCGGA
TCATTTGAAGTCAGGAGTTCAAGCCTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCATGTTGG
TGCACGCTTGTAATCCCAGCTACTCAGGAGTCTGAGGCACGAGAATCACCTGAACTCAGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCA
CCACTGCACTCCAGCTTGGGTGACAGAGTGAGACTCCATCTCAACAAAAAAAAAATCTAACTGAAGAACTAAGTTGATTTTTTATTTGCC
ATAAACCAAGCAAAAGTAAATGCAATAATTTCGAGATTTATGGTAAACAAATTTGAGGTATGGATAAATCTTTCACATATTTTTTATTGC
TCTTTAGTAAAGAAAGGCACAAGAAAGAAAATATCCAGCTCTCTTGTGTTATCTCAGTGTGGCGACTGCAGAAAATTGACAATGCCTGCC
TGTGTAAATGTATGGCTTACTGTCAAAGCTTCATTCTTGGCTGCATGTTGAAAATGTGATTAAAGTTAATAGAGGAGATGAAATAAGTAT
TTGAGATTTTTTTCAATAACACTGAACTTCTGCCAACTTTCTCTATCCGCTACTGTAGGCTTGACAGGCTCATCAATCATTTGCTGGTAC
CTGGACTAAAAAGCGCACTTGCTGACACCAAGGCATGTTGGAATTTTCTTAATTCAGTGGATGGAAAAAGAAATACTTCCAAAAATATCC
CACACATGAAAAGGGAGGGGAGCCTTAAATGAAAATTCCCTTTGTACCGTAGACACTTTTTGGAATGCGATTAATTGCCAACACATCATT
GAACGAATGCTGTAACCAAGAAATTAAGATTGTGTGTGTGAAGGGAATATATTCTTAACTGTGGCTACCCAACTTGTATAGCAAAGATTT

>In-frame_TFRC_ENST00000360110_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_1161nt
CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC
CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC
AAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAA
ATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCT
GTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACA
ACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGA
TGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGA
AAACTATTCCCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACT
GGCATTCTGATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAA
GGAAAATGGAATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAG
AAAGATAATTTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCT
CCTTGGCTGTTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACAT

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000397457_chr6_8041501_-_2558nt
AGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATCAAGCTAGAT
CAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATA
CTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCC
AACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGA
AGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGG
ACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGAAAACTATTC
CCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACTGGCATTCTG
ATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAAGGAAAATGG
AATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAGAAAGATAAT
TTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCTCCTTGGCTG
TTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACATTTCAGAGAG
GTGAGAGTGAACACATTGTCTCTGCTGTGGCAAAGATGGCCACGCTGGTGTTTGAGCTGCCTCTTGGGAAGCGTTGCATATTTTACAGTG
CAGCATAATGCCATGGGCTTCCGTGGATGGGAAGACACATGTTAAGTTTTGTGGCCTTCCAGCACTTACTATTTTCAGCTTTTTAAAGCA
TGCTTAGAAGGAAAAGCTTACCAAAAATATATTTTGACATTTAGTTTTTCCAAGAGCTATAATCTTGCCCATAGTATTTACCTCATTTTT
GTGTCTGTTTTGCTGTGGGTAAGCTTTATAAGATAAATAATGTCTATACATGTTTCGACTGTTTAATGAGTAATCAACAAAATCTGCCAG
AGAGTCCCTCTGGAACCATATAAAGTTCCTGGCTTTGAATGAACCAGAAGTGTTTGCCCACACAGCAAATGGTCCATGTTAAATGTAAAT
CCTTTTTAGTGTTAATGTCTGTTCTCATAAGCAGGTATATTATGATGAAACATGTACCAGTTCTGTCATCACTGTGATCTTTAAAAACCT
GCATTTAACAGTCTAATTTGAGGCTGGGTGCAGTGGCTCACACCTGTAATCTCAACACTTTGGGAGGCCGAGGCAGGCGGATCATTTGAA
GTCAGGAGTTCAAGCCTAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCCGGCATGTTGGTGCACGCTT
GTAATCCCAGCTACTCAGGAGTCTGAGGCACGAGAATCACCTGAACTCAGGAGGCGGAGGTTGCGGTGAGCTGAGATGGCACCACTGCAC
TCCAGCTTGGGTGACAGAGTGAGACTCCATCTCAACAAAAAAAAAATCTAACTGAAGAACTAAGTTGATTTTTTATTTGCCATAAACCAA
GCAAAAGTAAATGCAATAATTTCGAGATTTATGGTAAACAAATTTGAGGTATGGATAAATCTTTCACATATTTTTTATTGCTCTTTAGTA
AAGAAAGGCACAAGAAAGAAAATATCCAGCTCTCTTGTGTTATCTCAGTGTGGCGACTGCAGAAAATTGACAATGCCTGCCTGTGTAAAT
GTATGGCTTACTGTCAAAGCTTCATTCTTGGCTGCATGTTGAAAATGTGATTAAAGTTAATAGAGGAGATGAAATAAGTATTTGAGATTT
TTTTCAATAACACTGAACTTCTGCCAACTTTCTCTATCCGCTACTGTAGGCTTGACAGGCTCATCAATCATTTGCTGGTACCTGGACTAA
AAAGCGCACTTGCTGACACCAAGGCATGTTGGAATTTTCTTAATTCAGTGGATGGAAAAAGAAATACTTCCAAAAATATCCCACACATGA
AAAGGGAGGGGAGCCTTAAATGAAAATTCCCTTTGTACCGTAGACACTTTTTGGAATGCGATTAATTGCCAACACATCATTGAACGAATG
CTGTAACCAAGAAATTAAGATTGTGTGTGTGAAGGGAATATATTCTTAACTGTGGCTACCCAACTTGTATAGCAAAGATTTCTGATAGTT

>In-frame_TFRC_ENST00000540528_chr3_195803935_-_BLOC1S5_ENST00000543936_chr6_8041501_-_1062nt
AGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATCAAGCTAGAT
CAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATA
CTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCC
AACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGA
AGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGG
ACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGAAAACTATTC
CCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACTGGCATTCTG
ATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAAGGAAAATGG
AATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAGAAAGATAAT
TTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCTCCTTGGCTG
TTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACATTTCAGAGAG


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FusionGenePPI for TFRC_BLOC1S5


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, TESBLOC1S5BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, YOD1, SQSTM1, DCUN1D1, APP, HUWE1, TSNAX, TEX35, C17orf59, BCAS4, XPO1, TRIM69


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_BLOC1S5


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

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RelatedDiseases for TFRC_BLOC1S5


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