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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:SDHAP1-TFRC (FusionGDB2 ID:HG255812TG7037)

Fusion Gene Summary for SDHAP1-TFRC

check button Fusion gene summary
Fusion gene informationFusion gene name: SDHAP1-TFRC
Fusion gene ID: hg255812tg7037
HgeneTgene
Gene symbol

SDHAP1

TFRC

Gene ID

255812

7037

Gene nametransferrin receptor
SynonymsCD71|IMD46|T9|TFR|TFR1|TR|TRFR|p90
Cytomap('SDHAP1')('TFRC')

3q29

Type of geneprotein-coding
Descriptiontransferrin receptor protein 1
Modification date20200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000427841, 
Fusion gene scores* DoF score2 X 2 X 2=88 X 8 X 4=256
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SDHAP1 [Title/Abstract] AND TFRC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSDHAP1(195717061)-TFRC(195782172), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneTFRC

GO:0006826

iron ion transport

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



check button Fusion gene information
* 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
ChimerDB4LUSCTCGA-46-6025SDHAP1chr3

195717061

-TFRCchr3

195782172

-


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Fusion Gene ORF analysis for SDHAP1-TFRC

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-3CDSENST00000427841ENST00000360110SDHAP1chr3

195717061

-TFRCchr3

195782172

-
5UTR-3CDSENST00000427841ENST00000420415SDHAP1chr3

195717061

-TFRCchr3

195782172

-
5UTR-3UTRENST00000427841ENST00000392396SDHAP1chr3

195717061

-TFRCchr3

195782172

-
5UTR-3UTRENST00000427841ENST00000535031SDHAP1chr3

195717061

-TFRCchr3

195782172

-
5UTR-3UTRENST00000427841ENST00000540528SDHAP1chr3

195717061

-TFRCchr3

195782172

-
5UTR-intronENST00000427841ENST00000465288SDHAP1chr3

195717061

-TFRCchr3

195782172

-

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 SDHAP1-TFRC


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)


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Fusion Protein Features for SDHAP1-TFRC


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:195717061/:195782172)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 SDHAP1-TFRC


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 SDHAP1-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


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Related Drugs for SDHAP1-TFRC


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 SDHAP1-TFRC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0162316Iron deficiency anemia3CTD_human
TgeneC0006142Malignant neoplasm of breast2CTD_human
TgeneC0012715Iron Metabolism Disorders2CTD_human
TgeneC0028754Obesity2CTD_human
TgeneC0079487Helicobacter Infections2CTD_human
TgeneC0678222Breast Carcinoma2CTD_human
TgeneC1257931Mammary Neoplasms, Human2CTD_human
TgeneC1458155Mammary Neoplasms2CTD_human
TgeneC4704874Mammary Carcinoma, Human2CTD_human
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0002875Cooley's anemia1CTD_human
TgeneC0003756Arenaviridae Infections1CTD_human
TgeneC0005283beta Thalassemia1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0017638Glioma1CTD_human
TgeneC0019025Hemoglobin F Disease1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0023434Chronic Lymphocytic Leukemia1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024302Reticulosarcoma1CTD_human
TgeneC0024304Lymphoma, Mixed-Cell1CTD_human
TgeneC0024305Lymphoma, Non-Hodgkin1CTD_human
TgeneC0024306Lymphoma, Undifferentiated1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0079740High Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079741Lymphoma, Intermediate-Grade1CTD_human
TgeneC0079747Low Grade Lymphoma (neoplasm)1CTD_human
TgeneC0079757Diffuse Mixed-Cell Lymphoma1CTD_human
TgeneC0079770Lymphoma, Small Noncleaved-Cell1CTD_human
TgeneC0085110Severe Combined Immunodeficiency1CTD_human
TgeneC0085578Thalassemia Minor1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0205671Infections, Arenavirus1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0242583Bare Lymphocyte Syndrome1CTD_human
TgeneC0259783mixed gliomas1CTD_human
TgeneC0271979Thalassemia Intermedia1CTD_human
TgeneC0494261Combined immunodeficiency1GENOMICS_ENGLAND
TgeneC0555198Malignant Glioma1CTD_human
TgeneC1136382Sclerocystic Ovaries1CTD_human
TgeneC2700553Omenn Syndrome1CTD_human
TgeneC3714542Lymphoma, Diffuse1CTD_human
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC4225219IMMUNODEFICIENCY 461CTD_human;ORPHANET;UNIPROT
TgeneC4552766Miscarriage1CTD_human
TgeneC4721532Lymphoma, Non-Hodgkin, Familial1CTD_human