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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:ETFDH-TSC22D3 (FusionGDB2 ID:HG2110TG1831)

Fusion Gene Summary for ETFDH-TSC22D3

check button Fusion gene summary
Fusion gene informationFusion gene name: ETFDH-TSC22D3
Fusion gene ID: hg2110tg1831
HgeneTgene
Gene symbol

ETFDH

TSC22D3

Gene ID

2110

1831

Gene nameelectron transfer flavoprotein dehydrogenaseTSC22 domain family member 3
SynonymsETFQO|MADDDIP|DSIPI|GILZ|TSC-22R
Cytomap('ETFDH')('TSC22D3')

4q32.1

Xq22.3

Type of geneprotein-codingprotein-coding
Descriptionelectron transfer flavoprotein-ubiquinone oxidoreductase, mitochondrialETF dehydrogenaseETF-QOETF-ubiquinone oxidoreductaseelectron-transferring-flavoprotein dehydrogenasemutant electron transfer flavoprotein dehydrogenaseTSC22 domain family protein 3DSIP-immunoreactive leucine zipper proteinDSIP-immunoreactive peptideTSC-22 related proteinTSC-22-like proteindelta sleep-inducing peptide immunoreactorglucocorticoid-induced leucine zipper protein
Modification date2020032220200313
UniProtAcc

Q16134

.
Ensembl transtripts involved in fusion geneENST00000511912, ENST00000307738, 
ENST00000510353, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 7 X 3=147
# samples 28
** MAII scorelog2(2/8*10)=1.32192809488736log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ETFDH [Title/Abstract] AND TSC22D3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointETFDH(159601759)-TSC22D3(106957979), # samples:1
Anticipated loss of major functional domain due to fusion event.ETFDH-TSC22D3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ETFDH-TSC22D3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ETFDH-TSC22D3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ETFDH-TSC22D3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneETFDH

GO:0022900

electron transport chain

8306995|12049629


check buttonFusion gene breakpoints across ETFDH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across TSC22D3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4Non-Cancer131NdETFDHchr4

159601759

+TSC22D3chrX

106957979

-


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Fusion Gene ORF analysis for ETFDH-TSC22D3

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-shiftENST00000511912ENST00000315660ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
Frame-shiftENST00000511912ENST00000372383ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
Frame-shiftENST00000511912ENST00000372384ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
Frame-shiftENST00000511912ENST00000372397ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
Frame-shiftENST00000511912ENST00000514426ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
In-frameENST00000511912ENST00000372382ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
In-frameENST00000511912ENST00000372390ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
In-frameENST00000511912ENST00000506081ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000315660ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000372382ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000372383ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000372384ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000372390ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000372397ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000506081ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000307738ENST00000514426ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000315660ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000372382ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000372383ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000372384ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000372390ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000372397ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000506081ETFDHchr4

159601759

+TSC22D3chrX

106957979

-
intron-3CDSENST00000510353ENST00000514426ETFDHchr4

159601759

+TSC22D3chrX

106957979

-

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)
ENST00000511912ETFDHchr4159601759+ENST00000372390TSC22D3chrX106957979-20365071392952146
ENST00000511912ETFDHchr4159601759+ENST00000372382TSC22D3chrX106957979-1257507822475115
ENST00000511912ETFDHchr4159601759+ENST00000506081TSC22D3chrX106957979-887507822475115

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
ENST00000511912ENST00000372390ETFDHchr4159601759+TSC22D3chrX106957979-0.43793790.56206214
ENST00000511912ENST00000372382ETFDHchr4159601759+TSC22D3chrX106957979-0.230637130.76936287
ENST00000511912ENST00000506081ETFDHchr4159601759+TSC22D3chrX106957979-0.225561440.7744385

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Fusion Genomic Features for ETFDH-TSC22D3


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.
genomic feature

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Fusion Protein Features for ETFDH-TSC22D3


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/chr4:159601759/chrX:106957979)
- 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
ETFDH

Q16134

.
FUNCTION: Accepts electrons from ETF and reduces ubiquinone.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
TgeneTSC22D3chr4:159601759chrX:106957979ENST000003723971376_9758135.0RegionNote=Leucine-zipper

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETFDHchr4:159601759chrX:106957979ENST00000511912+213577_60658618.0Domain4Fe-4S ferredoxin-type
HgeneETFDHchr4:159601759chrX:106957979ENST00000511912+213109_13058618.0IntramembraneOntology_term=ECO:0000250
HgeneETFDHchr4:159601759chrX:106957979ENST00000511912+213428_44758618.0IntramembraneOntology_term=ECO:0000250
HgeneETFDHchr4:159601759chrX:106957979ENST00000511912+21371_8558618.0Nucleotide bindingFAD
TgeneTSC22D3chr4:159601759chrX:106957979ENST00000315660241_60124201.0RegionAP1-binding
TgeneTSC22D3chr4:159601759chrX:106957979ENST000003156602476_97124201.0RegionNote=Leucine-zipper
TgeneTSC22D3chr4:159601759chrX:106957979ENST00000372383131_60124201.0RegionAP1-binding
TgeneTSC22D3chr4:159601759chrX:106957979ENST000003723831376_97124201.0RegionNote=Leucine-zipper
TgeneTSC22D3chr4:159601759chrX:106957979ENST00000372384241_60124201.0RegionAP1-binding
TgeneTSC22D3chr4:159601759chrX:106957979ENST000003723842476_97124201.0RegionNote=Leucine-zipper
TgeneTSC22D3chr4:159601759chrX:106957979ENST00000372397131_6058135.0RegionAP1-binding
TgeneTSC22D3chr4:159601759chrX:106957979ENST00000506081241_60124201.0RegionAP1-binding
TgeneTSC22D3chr4:159601759chrX:106957979ENST000005060812476_97124201.0RegionNote=Leucine-zipper


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Fusion Gene Sequence for ETFDH-TSC22D3


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.
>27641_27641_1_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000372382_length(transcript)=1257nt_BP=507nt
GTGCTGTGGGATTCGCGGACCCCTCTGGCCGCGCTGTGGCTGTTTCACCGCTCCCCGGCTGGGACTTGGAGTCCCTTATCTTTCCCTGGT
TTGGTACATGACCCGGAAGCCTCGGCTGGCCGTTGCGTCATCCATGGCGCCGGCGCAGAGCGAGAAGGAGGTGGGAACGCCGTGAAGCAA
GAGCGGTCGGCAGAGCGGGGAGGCGAACTGCAGCAGAGTTCTTGCTTTCCGGCAGGTGATGGCGCCCCCCGCGGCCTAGAGGTCCAGCGC
CCGCCGCGAGCAGCGGACAGTCCTCCTGTTGTGTCCGACCGAGAGTCCTGGTGACTTTGAACATGCTGGTGCCGCTAGCCAAGCTGTCCT
GCCTGGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGC
CTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGATCTGGTGAAGAATCATCTGATGTATGCTGTG
AGAGAGGAGGTGGAGATCCTGAAGGAGCAGATCCGAGAGCTGGTGGAGAAGAACTCCCAGCTAGAGCGTGAGAACACCCTGTTGAAGACC
CTGGCAAGCCCAGAGCAGCTGGAGAAGTTCCAGTCCTGTCTGAGCCCTGAAGAGCCAGCTCCCGAATCCCCACAAGTGCCCGAGGCCCCT
GGTGGTTCTGCGGTGTAAGTGGCTCTGTCCTCAGGGTGGGCAGAGCCACTAAACTTGTTTTACCTAGTTCTTTCCAGTTTGTTTTTGGCT
CCCCAAGCATCATCTCACGAGGAGAACTTTACACCTAGCACAGCTGGTGCCAAGAGATGTCCTAAGGACATGGCCACCTGGGTCCACTCC
AGCGACAGACCCCTGACAAGAGCAGGTCTCTGGAGGCTGAGTTGCATGGGGCCTAGTAACACCAAGCCAGTGAGCCTCTAATGCTACTGC
GCCCTGGGGGCTCCCAGGGCCTGGGCAACTTAGCTGCAACTGGCAAAGGAGAAGGGTAGTTTGAGGTGTGACACCAGTTTGCTCCAGAAA
GTTTAAGGGGTCTGTTTCTCATCTCCATGGACATCTTCAACAGCTTCACCTGACAACGACTGTTCCTATGAAGAAGCCACTTGTGTTTTA

>27641_27641_1_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000372382_length(amino acids)=115AA_BP=0
MMLGEPKTNWKELGKTSLVALPTLRTEPLTPQNHQGPRALVGIRELALQGSDRTGTSPAALGLPGSSTGCSHALAGSSSPPALGSAPSGS

--------------------------------------------------------------
>27641_27641_2_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000372390_length(transcript)=2036nt_BP=507nt
GTGCTGTGGGATTCGCGGACCCCTCTGGCCGCGCTGTGGCTGTTTCACCGCTCCCCGGCTGGGACTTGGAGTCCCTTATCTTTCCCTGGT
TTGGTACATGACCCGGAAGCCTCGGCTGGCCGTTGCGTCATCCATGGCGCCGGCGCAGAGCGAGAAGGAGGTGGGAACGCCGTGAAGCAA
GAGCGGTCGGCAGAGCGGGGAGGCGAACTGCAGCAGAGTTCTTGCTTTCCGGCAGGTGATGGCGCCCCCCGCGGCCTAGAGGTCCAGCGC
CCGCCGCGAGCAGCGGACAGTCCTCCTGTTGTGTCCGACCGAGAGTCCTGGTGACTTTGAACATGCTGGTGCCGCTAGCCAAGCTGTCCT
GCCTGGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGC
CTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGATCTGGTGAAGAATCATCTGATGTATGCTGTG
AGAGAGGAGGTGGAGATCCTGAAGGAGCAGATCCGAGAGCTGGTGGAGAAGAACTCCCAGCTAGAGCGTGAGAACACCCTGTTGAAGACC
CTGGCAAGCCCAGAGCAGCTGGAGAAGTTCCAGTCCTGTCTGAGCCCTGAAGAGCCAGCTCCCGAATCCCCACAAGTGCCCGAGGCCCCT
GGTGGTTCTGCGGTGTAAGTGGCTCTGTCCTCAGGGTGGGCAGAGCCACTAAACTTGTTTTACCTAGTTCTTTCCAGTTTGTTTTTGGCT
CCCCAAGCATCATCTCACGAGGAGAACTTTACACCTAGCACAGCTGGTGCCAAGAGATGTCCTAAGGACATGGCCACCTGGGTCCACTCC
AGCGACAGACCCCTGACAAGAGCAGGTCTCTGGAGGCTGAGTTGCATGGGGCCTAGTAACACCAAGCCAGTGAGCCTCTAATGCTACTGC
GCCCTGGGGGCTCCCAGGGCCTGGGCAACTTAGCTGCAACTGGCAAAGGAGAAGGGTAGTTTGAGGTGTGACACCAGTTTGCTCCAGAAA
GTTTAAGGGGTCTGTTTCTCATCTCCATGGACATCTTCAACAGCTTCACCTGACAACGACTGTTCCTATGAAGAAGCCACTTGTGTTTTA
AGCAGAGGCAACCTCTCTCTTCTCCTCTGTTTCGTGAAGGCAGGGGACACAGATGGGAGAGATTGAGCCAAGTCAGCCTTCTGTTGGTTA
ATATGGTATAATGCATGGCTTTGTGCACAGCCCAGTGTGGGATTACAGCTTTGGGATGACCGCTTACAAAGTTCTGTTTGGTTAGTATTG
GCATAGTTTTTCTATATAGCCATAAATGCGTATATATACCCATAGGGCTAGATCTGTATCTTAGTGTAGCGATGTATACATATACACATC
CACCTACATGTTGAAGGGCCTAACCAGCCTTGGGAGTATTGACTGGTCCCTTACCTCTTATGGCTAAGTCTTTGACTGTGTTCATTTACC
AAGTTGACCCAGTTTGTCTTTTAGGTTAAGTAAGACTCGAGAGTAAAGGCAAGGAGGGGGGCCAGCCTCTGAATGCGGCCACGGATGCCT
TGCTGCTGCAACCCTTTCCCCAGCTGTCCACTGAAACGTGAAGTCCTGTTTTGAATGCCAAACCCACCATTCACTGGTGCTGACTACATA
GAATGGGGTTGAGAGAAGATCAGTTTGGGCTTCACAGTGTCATTTGAAAACGTTTTTTGTTTTGTTTTGTAATTATTGTGGAAAACTTTC
AAGTGAACAGAAGGATGGTGTCCTACTGTGGATGAGGGATGAACAAGGGGATGGCTTTGATCCAATGGAGCCTGGGAGGTGTGCCCAGAA
AGCTTGTCTGTAGCGGGTTTTGTGAGAGTGAACACTTTCCACTTTTTGACACCTTATCCTGATGTATGGTTCCAGGATTTGGATTTTGAT

>27641_27641_2_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000372390_length(amino acids)=146AA_BP=
MGIYTHLWLYRKTMPILTKQNFVSGHPKAVIPHWAVHKAMHYTILTNRRLTWLNLSHLCPLPSRNRGEERGCLCLKHKWLLHRNSRCQVK

--------------------------------------------------------------
>27641_27641_3_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000506081_length(transcript)=887nt_BP=507nt
GTGCTGTGGGATTCGCGGACCCCTCTGGCCGCGCTGTGGCTGTTTCACCGCTCCCCGGCTGGGACTTGGAGTCCCTTATCTTTCCCTGGT
TTGGTACATGACCCGGAAGCCTCGGCTGGCCGTTGCGTCATCCATGGCGCCGGCGCAGAGCGAGAAGGAGGTGGGAACGCCGTGAAGCAA
GAGCGGTCGGCAGAGCGGGGAGGCGAACTGCAGCAGAGTTCTTGCTTTCCGGCAGGTGATGGCGCCCCCCGCGGCCTAGAGGTCCAGCGC
CCGCCGCGAGCAGCGGACAGTCCTCCTGTTGTGTCCGACCGAGAGTCCTGGTGACTTTGAACATGCTGGTGCCGCTAGCCAAGCTGTCCT
GCCTGGCATATCAGTGCTTTCATGCCTTAAAAATTAAGAAAAATTATCTACCTCTATGTGCTACAAGATGGTCTTCAACTTCTACTGTGC
CTCGAATTACTACCCATTATACTATTTATCCCCGGGATAAGGACAAGAGATGGGAAGGATCTGGTGAAGAATCATCTGATGTATGCTGTG
AGAGAGGAGGTGGAGATCCTGAAGGAGCAGATCCGAGAGCTGGTGGAGAAGAACTCCCAGCTAGAGCGTGAGAACACCCTGTTGAAGACC
CTGGCAAGCCCAGAGCAGCTGGAGAAGTTCCAGTCCTGTCTGAGCCCTGAAGAGCCAGCTCCCGAATCCCCACAAGTGCCCGAGGCCCCT
GGTGGTTCTGCGGTGTAAGTGGCTCTGTCCTCAGGGTGGGCAGAGCCACTAAACTTGTTTTACCTAGTTCTTTCCAGTTTGTTTTTGGCT

>27641_27641_3_ETFDH-TSC22D3_ETFDH_chr4_159601759_ENST00000511912_TSC22D3_chrX_106957979_ENST00000506081_length(amino acids)=115AA_BP=0
MMLGEPKTNWKELGKTSLVALPTLRTEPLTPQNHQGPRALVGIRELALQGSDRTGTSPAALGLPGSSTGCSHALAGSSSPPALGSAPSGS

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ETFDH-TSC22D3


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 ETFDH-TSC22D3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneETFDHQ16134DB00331MetforminInhibitorSmall moleculeApproved

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Related Diseases for ETFDH-TSC22D3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneETFDHC0268596Multiple Acyl Coenzyme A Dehydrogenase Deficiency18CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneETFDHC3278156GLUTARIC ACIDEMIA IIC3GENOMICS_ENGLAND
HgeneETFDHC0025517Metabolic Diseases1CTD_human
HgeneETFDHC0028754Obesity1CTD_human
HgeneETFDHC0369183Erythrocyte Mean Corpuscular Hemoglobin Test1GENOMICS_ENGLAND
HgeneETFDHC1261502Finding of Mean Corpuscular Hemoglobin1GENOMICS_ENGLAND
TgeneC0020459Hyperinsulinism1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0039584Testicular Diseases1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC1257963Endogenous Hyperinsulinism1CTD_human
TgeneC1257964Exogenous Hyperinsulinism1CTD_human
TgeneC1257965Compensatory Hyperinsulinemia1CTD_human
TgeneC1262477Weight decreased1CTD_human