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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:TF-TF (FusionGDB2 ID:89641)

Fusion Gene Summary for TF-TF

check button Fusion gene summary
Fusion gene informationFusion gene name: TF-TF
Fusion gene ID: 89641
HgeneTgene
Gene symbol

TF

TF

Gene ID

7018

7018

Gene nametransferrintransferrin
SynonymsHEL-S-71p|PRO1557|PRO2086|TFQTL1HEL-S-71p|PRO1557|PRO2086|TFQTL1
Cytomap

3q22.1

3q22.1

Type of geneprotein-codingprotein-coding
Descriptionserotransferrinbeta-1 metal-binding globulinepididymis secretory sperm binding protein Li 71psiderophilinserotransferrinbeta-1 metal-binding globulinepididymis secretory sperm binding protein Li 71psiderophilin
Modification date2020031320200313
UniProtAcc.

GTF2A1L

Ensembl transtripts involved in fusion geneENST00000402696, ENST00000264998, 
ENST00000475382, 
ENST00000402696, 
ENST00000264998, ENST00000475382, 
Fusion gene scores* DoF score22 X 26 X 5=28609 X 12 X 4=432
# samples 2813
** MAII scorelog2(28/2860*10)=-3.35251641472079
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/432*10)=-1.73251968913501
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TF [Title/Abstract] AND TF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTF(133386859)-TF(133386752), # samples:1
TF(133478058)-TF(133475763), # samples:1
Anticipated loss of major functional domain due to fusion event.TF-TF seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TF-TF seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneTF

GO:0048260

positive regulation of receptor-mediated endocytosis

12704209

TgeneTF

GO:0048260

positive regulation of receptor-mediated endocytosis

12704209


check buttonFusion gene breakpoints across TF (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 TF (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
ChiTaRS5.0N/AAA730431TFchr3

133386859

+TFchr3

133386752

-
ChiTaRS5.0N/AW27988TFchr3

133478058

-TFchr3

133475763

+


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Fusion Gene ORF analysis for TF-TF

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-intronENST00000402696ENST00000402696TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000402696ENST00000264998TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000402696ENST00000475382TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000264998ENST00000402696TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000264998ENST00000264998TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000264998ENST00000475382TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000475382ENST00000402696TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000475382ENST00000264998TFchr3

133386859

+TFchr3

133386752

-
intron-intronENST00000475382ENST00000475382TFchr3

133386859

+TFchr3

133386752

-
Frame-shiftENST00000402696ENST00000402696TFchr3

133478058

-TFchr3

133475763

+
Frame-shiftENST00000402696ENST00000264998TFchr3

133478058

-TFchr3

133475763

+
5CDS-intronENST00000402696ENST00000475382TFchr3

133478058

-TFchr3

133475763

+
Frame-shiftENST00000264998ENST00000402696TFchr3

133478058

-TFchr3

133475763

+
Frame-shiftENST00000264998ENST00000264998TFchr3

133478058

-TFchr3

133475763

+
5CDS-intronENST00000264998ENST00000475382TFchr3

133478058

-TFchr3

133475763

+
intron-3CDSENST00000475382ENST00000402696TFchr3

133478058

-TFchr3

133475763

+
intron-3CDSENST00000475382ENST00000264998TFchr3

133478058

-TFchr3

133475763

+
intron-intronENST00000475382ENST00000475382TFchr3

133478058

-TFchr3

133475763

+

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)

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

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Fusion Genomic Features for TF-TF


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 TF-TF


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.TF

GTF2A1L

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.478

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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Fusion Gene Sequence for TF-TF


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.

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Fusion Gene PPI Analysis for TF-TF


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 TF-TF


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 TF-TF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTFC0521802Congenital atransferrinemia5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneTFC0036341Schizophrenia3PSYGENET
HgeneTFC0001956Alcohol Use Disorder2CTD_human
HgeneTFC0001973Alcoholic Intoxication, Chronic2CTD_human
HgeneTFC0002395Alzheimer's Disease2CTD_human
HgeneTFC0007097Carcinoma2CTD_human
HgeneTFC0011265Presenile dementia2CTD_human
HgeneTFC0015695Fatty Liver2CTD_human
HgeneTFC0024667Animal Mammary Neoplasms2CTD_human
HgeneTFC0024668Mammary Neoplasms, Experimental2CTD_human
HgeneTFC0085762Alcohol abuse2CTD_human
HgeneTFC0205696Anaplastic carcinoma2CTD_human
HgeneTFC0205697Carcinoma, Spindle-Cell2CTD_human
HgeneTFC0205698Undifferentiated carcinoma2CTD_human
HgeneTFC0205699Carcinomatosis2CTD_human
HgeneTFC0276496Familial Alzheimer Disease (FAD)2CTD_human
HgeneTFC0494463Alzheimer Disease, Late Onset2CTD_human
HgeneTFC0546126Acute Confusional Senile Dementia2CTD_human
HgeneTFC0750900Alzheimer's Disease, Focal Onset2CTD_human
HgeneTFC0750901Alzheimer Disease, Early Onset2CTD_human
HgeneTFC1257925Mammary Carcinoma, Animal2CTD_human
HgeneTFC2711227Steatohepatitis2CTD_human
HgeneTFC0004352Autistic Disorder1CTD_human
HgeneTFC0013221Drug toxicity1CTD_human
HgeneTFC0013502Echinococcosis1CTD_human
HgeneTFC0019158Hepatitis1CTD_human
HgeneTFC0019193Hepatitis, Toxic1CTD_human
HgeneTFC0021368Inflammation1CTD_human
HgeneTFC0022660Kidney Failure, Acute1CTD_human
HgeneTFC0027626Neoplasm Invasiveness1CTD_human
HgeneTFC0027726Nephrotic Syndrome1CTD_human
HgeneTFC0028754Obesity1CTD_human
HgeneTFC0030524Paratuberculosis1CTD_human
HgeneTFC0035258Restless Legs Syndrome1CTD_human
HgeneTFC0041755Adverse reaction to drug1CTD_human
HgeneTFC0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneTFC0271901Microcytic hypochromic anemia (disorder)1CTD_human
HgeneTFC0282193Iron Overload1CTD_human
HgeneTFC0345967Malignant mesothelioma1CTD_human
HgeneTFC0860207Drug-Induced Liver Disease1CTD_human
HgeneTFC1262760Hepatitis, Drug-Induced1CTD_human
HgeneTFC1565662Acute Kidney Insufficiency1CTD_human
HgeneTFC2609414Acute kidney injury1CTD_human
HgeneTFC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneTFC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneTFC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneTFC4553297Cystic Echinocccosis1CTD_human
TgeneTFC0521802Congenital atransferrinemia5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneTFC0036341Schizophrenia3PSYGENET
TgeneTFC0001956Alcohol Use Disorder2CTD_human
TgeneTFC0001973Alcoholic Intoxication, Chronic2CTD_human
TgeneTFC0002395Alzheimer's Disease2CTD_human
TgeneTFC0007097Carcinoma2CTD_human
TgeneTFC0011265Presenile dementia2CTD_human
TgeneTFC0015695Fatty Liver2CTD_human
TgeneTFC0024667Animal Mammary Neoplasms2CTD_human
TgeneTFC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneTFC0085762Alcohol abuse2CTD_human
TgeneTFC0205696Anaplastic carcinoma2CTD_human
TgeneTFC0205697Carcinoma, Spindle-Cell2CTD_human
TgeneTFC0205698Undifferentiated carcinoma2CTD_human
TgeneTFC0205699Carcinomatosis2CTD_human
TgeneTFC0276496Familial Alzheimer Disease (FAD)2CTD_human
TgeneTFC0494463Alzheimer Disease, Late Onset2CTD_human
TgeneTFC0546126Acute Confusional Senile Dementia2CTD_human
TgeneTFC0750900Alzheimer's Disease, Focal Onset2CTD_human
TgeneTFC0750901Alzheimer Disease, Early Onset2CTD_human
TgeneTFC1257925Mammary Carcinoma, Animal2CTD_human
TgeneTFC2711227Steatohepatitis2CTD_human
TgeneTFC0004352Autistic Disorder1CTD_human
TgeneTFC0013221Drug toxicity1CTD_human
TgeneTFC0013502Echinococcosis1CTD_human
TgeneTFC0019158Hepatitis1CTD_human
TgeneTFC0019193Hepatitis, Toxic1CTD_human
TgeneTFC0021368Inflammation1CTD_human
TgeneTFC0022660Kidney Failure, Acute1CTD_human
TgeneTFC0027626Neoplasm Invasiveness1CTD_human
TgeneTFC0027726Nephrotic Syndrome1CTD_human
TgeneTFC0028754Obesity1CTD_human
TgeneTFC0030524Paratuberculosis1CTD_human
TgeneTFC0035258Restless Legs Syndrome1CTD_human
TgeneTFC0041755Adverse reaction to drug1CTD_human
TgeneTFC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneTFC0271901Microcytic hypochromic anemia (disorder)1CTD_human
TgeneTFC0282193Iron Overload1CTD_human
TgeneTFC0345967Malignant mesothelioma1CTD_human
TgeneTFC0860207Drug-Induced Liver Disease1CTD_human
TgeneTFC1262760Hepatitis, Drug-Induced1CTD_human
TgeneTFC1565662Acute Kidney Insufficiency1CTD_human
TgeneTFC2609414Acute kidney injury1CTD_human
TgeneTFC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneTFC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneTFC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneTFC4553297Cystic Echinocccosis1CTD_human