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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TFRC-BLOC1S5 (FusionGDB2 ID:89768)

Fusion Gene Summary for TFRC-BLOC1S5

check button Fusion gene summary
Fusion gene informationFusion gene name: TFRC-BLOC1S5
Fusion gene ID: 89768
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 date2020031320200313
UniProtAcc.

Q8TDH9

Ensembl transtripts involved in fusion geneENST00000420415, ENST00000360110, 
ENST00000540528, ENST00000392396, 
ENST00000535031, ENST00000465288, 
ENST00000397457, ENST00000543936, 
ENST00000475998, 
Fusion gene scores* DoF score11 X 12 X 8=10563 X 2 X 3=18
# samples 153
** MAII scorelog2(15/1056*10)=-2.81557542886257
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]

Most frequent breakpointTFRC(195803935)-BLOC1S5(8041501), # samples:2
Anticipated loss of major functional domain due to fusion event.TFRC-BLOC1S5 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
* 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:0006826

iron ion transport

7556058

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

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 buttonFusion gene breakpoints across TFRC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BLOC1S5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-G9-A9S7-01ATFRCchr3

195803935

-BLOC1S5chr6

8041501

-
ChimerDB4PRADTCGA-G9-A9S7TFRCchr3

195803935

-BLOC1S5chr6

8041501

-


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Fusion Gene ORF analysis for TFRC-BLOC1S5

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-shiftENST00000392396ENST00000397457TFRCchr3

195803935

-BLOC1S5chr6

8041501

-
Frame-shiftENST00000392396ENST00000543936TFRCchr3

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000360110TFRCchr3195803935-ENST00000397457BLOC1S5chr68041501-2657206170574134
ENST00000360110TFRCchr3195803935-ENST00000543936BLOC1S5chr68041501-1161206170574134
ENST00000540528TFRCchr3195803935-ENST00000397457BLOC1S5chr68041501-255810771475134
ENST00000540528TFRCchr3195803935-ENST00000543936BLOC1S5chr68041501-106210771475134

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000360110ENST00000397457TFRCchr3195803935-BLOC1S5chr68041501-0.0070383890.9929616
ENST00000360110ENST00000543936TFRCchr3195803935-BLOC1S5chr68041501-0.0076994350.9923005
ENST00000540528ENST00000397457TFRCchr3195803935-BLOC1S5chr68041501-0.0183991790.98160076
ENST00000540528ENST00000543936TFRCchr3195803935-BLOC1S5chr68041501-0.0097966480.9902034

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Fusion Genomic Features for TFRC-BLOC1S5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for TFRC-BLOC1S5


check button Go to

FGviewer for the breakpoints of chr3:195803935-chr6:8041501

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.BLOC1S5

Q8TDH9

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Component of the BLOC-1 complex, a complex that is required for normal biogenesis of lysosome-related organelles (LRO), such as platelet dense granules and melanosomes. In concert with the AP-3 complex, the BLOC-1 complex is required to target membrane protein cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals. The BLOC-1 complex, in association with SNARE proteins, is also proposed to be involved in neurite extension. Plays a role in intracellular vesicle trafficking. {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
TgeneBLOC1S5chr3:195803935chr6:8041501ENST0000039745715154_18665.0188.0Coiled coilOntology_term=ECO:0000255
TgeneBLOC1S5chr3:195803935chr6:8041501ENST0000054393626154_1861.0124.0Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-219223_31312.0761.0DomainNote=PA
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-219223_31312.0761.0DomainNote=PA
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-21958_6112.0761.0MotifStop-transfer sequence
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-219646_64812.0761.0MotifNote=Cell attachment site%3B required for binding to transferrin
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-21958_6112.0761.0MotifStop-transfer sequence
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-219646_64812.0761.0MotifNote=Cell attachment site%3B required for binding to transferrin
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-219569_76012.0761.0RegionNote=Ligand-binding
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-219569_76012.0761.0RegionNote=Ligand-binding
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-21989_76012.0761.0Topological domainExtracellular
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-21989_76012.0761.0Topological domainExtracellular
HgeneTFRCchr3:195803935chr6:8041501ENST00000360110-21968_8812.0761.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTFRCchr3:195803935chr6:8041501ENST00000392396-21968_8812.0761.0TransmembraneHelical%3B Signal-anchor for type II membrane protein


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Fusion Gene Sequence for TFRC-BLOC1S5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000360110_ENST00000397457_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(transcript)=2657nt_BP=206nt
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_ENST00000360110_ENST00000397457_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(amino acids)=134AA_start in transcript=170_stop in transcript=574
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

--------------------------------------------------------------
>In-frame_ENST00000360110_ENST00000543936_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(transcript)=1161nt_BP=206nt
CTCGCGAGCGTACGTGCCTCAGGAAGTGACGCACAGCCCCCCTGGGGGCCGGGGGCGGGGCCAGGCTATAAACCGCCGGTTAGGGGCCGC
CATCCCCTCAGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATC
AAGCTAGATCAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAA
ATGAACATACTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCT
GTAGACTCCAACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACA
ACTTCATGAAGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGA
TGGAGAAGGACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGA
AAACTATTCCCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACT
GGCATTCTGATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAA
GGAAAATGGAATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAG
AAAGATAATTTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCT
CCTTGGCTGTTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACAT

>In-frame_ENST00000360110_ENST00000543936_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(amino acids)=134AA_start in transcript=170_stop in transcript=574
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

--------------------------------------------------------------
>In-frame_ENST00000540528_ENST00000397457_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(transcript)=2558nt_BP=107nt
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_ENST00000540528_ENST00000397457_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(amino acids)=134AA_start in transcript=71_stop in transcript=475
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

--------------------------------------------------------------
>In-frame_ENST00000540528_ENST00000543936_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(transcript)=1062nt_BP=107nt
AGAGCGTCGGGATATCGGGTGGCGGCTCGGGACGGAGGACGCGCTAGTGTTCTTCTGTGTGGCAGTTCAGAATGATGGATCAAGCTAGAT
CAGCATTCTCTAACTTGGAAAAACGTGGTCTTCGAGAAATGCGAGTTCTTGAAAATTTGAAGAACATGATCCATGAAACAAATGAACATA
CTCTTCCCAAATGTAGAGACACAATGCGGGACAGCCTCAGCCAGGTTCTCCAGAGATTGCAAGCAGCTAATGACTCAGTCTGTAGACTCC
AACAGAGGGAACAGGAACGAAAAAAGATTCATAGTGACCACTTAGTAGCTAGTGAGAAACAGCATATGCTCCAGTGGGACAACTTCATGA
AGGAGCAACCCAACAAAAGGGCTGAAGTGGATGAAGAGCACAGAAAAGCCATGGAAAGGCTTAAAGAACAATATGCTGAGATGGAGAAGG
ACCTAGCGAAATTTTCAACCTTTTAAGAACTTGAACCACAACAATCACAAACTAATGAGAAGATGTTCACCTCTCTCCTGAAAACTATTC
CCACCAGACCGTTTAGCCTCTGCTTCAAGCTTAGCAATATATTCAGTGGCACTCTTATATCAGAAGAAAGAAGTTTCTACTGGCATTCTG
ATTGGATATTTAAAGAAGGGTGCCACATTTTTCCAGCTTTAAGTGCCTATATATGATTATTTGAATGAAGAGGAGTAGGAAGGAAAATGG
AATCAATATACTCTTTGTTAGTCAGAATTGATCATCTTTTCCATTGATTAGCTCAGAGAACTGTAGGTATAGACTTCTTAGAAAGATAAT
TTCATTCATTTCTATACAGGGTTAACAATAGTTTATTATTGTGGCTTAATGGGAAGGTATAGAAGCTACCTGTCATAGCCTCCTTGGCTG
TTGGAAGGATGTATAAAGTGTTACTGCATGAGTAATGTAGACAAAAAAAAAAGCCAGCTGTCCTTGGAGCAGAGATCACATTTCAGAGAG

>In-frame_ENST00000540528_ENST00000543936_TCGA-G9-A9S7-01A_TFRC_chr3_195803935_-_BLOC1S5_chr6_8041501_length(amino acids)=134AA_start in transcript=71_stop in transcript=475
MMDQARSAFSNLEKRGLREMRVLENLKNMIHETNEHTLPKCRDTMRDSLSQVLQRLQAANDSVCRLQQREQERKKIHSDHLVASEKQHML

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Fusion Gene PPI Analysis 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


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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Related Drugs for TFRC-BLOC1S5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TFRC-BLOC1S5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTFRCC0162316Iron deficiency anemia3CTD_human
HgeneTFRCC0006142Malignant neoplasm of breast2CTD_human
HgeneTFRCC0012715Iron Metabolism Disorders2CTD_human
HgeneTFRCC0028754Obesity2CTD_human
HgeneTFRCC0079487Helicobacter Infections2CTD_human
HgeneTFRCC0678222Breast Carcinoma2CTD_human
HgeneTFRCC1257931Mammary Neoplasms, Human2CTD_human
HgeneTFRCC1458155Mammary Neoplasms2CTD_human
HgeneTFRCC4704874Mammary Carcinoma, Human2CTD_human
HgeneTFRCC0000786Spontaneous abortion1CTD_human
HgeneTFRCC0000822Abortion, Tubal1CTD_human
HgeneTFRCC0002875Cooley's anemia1CTD_human
HgeneTFRCC0003756Arenaviridae Infections1CTD_human
HgeneTFRCC0005283beta Thalassemia1CTD_human
HgeneTFRCC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneTFRCC0005695Bladder Neoplasm1CTD_human
HgeneTFRCC0007621Neoplastic Cell Transformation1CTD_human
HgeneTFRCC0009402Colorectal Carcinoma1CTD_human
HgeneTFRCC0009404Colorectal Neoplasms1CTD_human
HgeneTFRCC0017638Glioma1CTD_human
HgeneTFRCC0019025Hemoglobin F Disease1CTD_human
HgeneTFRCC0021368Inflammation1CTD_human
HgeneTFRCC0023434Chronic Lymphocytic Leukemia1CTD_human
HgeneTFRCC0024121Lung Neoplasms1CTD_human
HgeneTFRCC0024302Reticulosarcoma1CTD_human
HgeneTFRCC0024304Lymphoma, Mixed-Cell1CTD_human
HgeneTFRCC0024305Lymphoma, Non-Hodgkin1CTD_human
HgeneTFRCC0024306Lymphoma, Undifferentiated1CTD_human
HgeneTFRCC0027055Myocardial Reperfusion Injury1CTD_human
HgeneTFRCC0032460Polycystic Ovary Syndrome1CTD_human
HgeneTFRCC0079740High Grade Lymphoma (neoplasm)1CTD_human
HgeneTFRCC0079741Lymphoma, Intermediate-Grade1CTD_human
HgeneTFRCC0079747Low Grade Lymphoma (neoplasm)1CTD_human
HgeneTFRCC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
HgeneTFRCC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
HgeneTFRCC0085110Severe Combined Immunodeficiency1CTD_human
HgeneTFRCC0085578Thalassemia Minor1CTD_human
HgeneTFRCC0151744Myocardial Ischemia1CTD_human
HgeneTFRCC0205671Infections, Arenavirus1CTD_human
HgeneTFRCC0242379Malignant neoplasm of lung1CTD_human
HgeneTFRCC0242583Bare Lymphocyte Syndrome1CTD_human
HgeneTFRCC0259783mixed gliomas1CTD_human
HgeneTFRCC0271979Thalassemia Intermedia1CTD_human
HgeneTFRCC0494261Combined immunodeficiency1GENOMICS_ENGLAND
HgeneTFRCC0555198Malignant Glioma1CTD_human
HgeneTFRCC1136382Sclerocystic Ovaries1CTD_human
HgeneTFRCC2700553Omenn Syndrome1CTD_human
HgeneTFRCC3714542Lymphoma, Diffuse1CTD_human
HgeneTFRCC3830362Early Pregnancy Loss1CTD_human
HgeneTFRCC4225219IMMUNODEFICIENCY 461CTD_human;ORPHANET;UNIPROT
HgeneTFRCC4552766Miscarriage1CTD_human
HgeneTFRCC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human