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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:EPHA1-C11orf80

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EPHA1-C11orf80
FusionPDB ID: 26944
FusionGDB2.0 ID: 26944
HgeneTgene
Gene symbol

EPHA1

C11orf80

Gene ID

2041

79703

Gene nameEPH receptor A1chromosome 11 open reading frame 80
SynonymsEPH|EPHT|EPHT1HYDM4|TOP6BL|TOPOVIBL
Cytomap

7q34-q35

11q13.2

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 1eph tyrosine kinase 1erythropoietin-producing hepatoma amplified sequenceerythropoietin-producing hepatoma receptorhEpha1oncogene EPHsoluble EPHA1 variant 1soluble EPHA1 variant 2tyrosine-protein kinase receptor EPHtype 2 DNA topoisomerase 6 subunit B-liketype 2 DNA topoisomerase VI subunit B-like
Modification date2020032020200313
UniProtAcc

Q5JZY3

.
Ensembl transtripts involved in fusion geneENST idsENST00000275815, ENST00000458129, 
ENST00000527368, ENST00000346672, 
ENST00000360962, ENST00000525449, 
ENST00000527634, ENST00000532565, 
ENST00000540737, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 9 X 3=21619 X 19 X 10=3610
# samples 1024
** MAII scorelog2(10/216*10)=-1.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(24/3610*10)=-3.91089252616601
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EPHA1 [Title/Abstract] AND C11orf80 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EPHA1(143095694)-C11orf80(66583524), # samples:1
Anticipated loss of major functional domain due to fusion event.EPHA1-C11orf80 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.
EPHA1-C11orf80 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.
EPHA1-C11orf80 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.
EPHA1-C11orf80 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
HgeneEPHA1

GO:0001954

positive regulation of cell-matrix adhesion

19118217

HgeneEPHA1

GO:0006469

negative regulation of protein kinase activity

19118217

HgeneEPHA1

GO:0007166

cell surface receptor signaling pathway

19118217

HgeneEPHA1

GO:0018108

peptidyl-tyrosine phosphorylation

12775584

HgeneEPHA1

GO:0030336

negative regulation of cell migration

19118217

HgeneEPHA1

GO:0034446

substrate adhesion-dependent cell spreading

19118217

HgeneEPHA1

GO:0043087

regulation of GTPase activity

19118217

HgeneEPHA1

GO:0046777

protein autophosphorylation

19118217

HgeneEPHA1

GO:0090630

activation of GTPase activity

19118217


check buttonFusion gene breakpoints across EPHA1 (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 C11orf80 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4COADTCGA-AA-3842-01AEPHA1chr7

143095694

-C11orf80chr11

66583524

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000275815EPHA1chr7143095694-ENST00000346672C11orf80chr1166583524+22511423872156689
ENST00000275815EPHA1chr7143095694-ENST00000360962C11orf80chr1166583524+25501423872267726
ENST00000275815EPHA1chr7143095694-ENST00000527634C11orf80chr1166583524+23241423872267726
ENST00000275815EPHA1chr7143095694-ENST00000540737C11orf80chr1166583524+23531423872264725
ENST00000275815EPHA1chr7143095694-ENST00000532565C11orf80chr1166583524+23241423872267726
ENST00000275815EPHA1chr7143095694-ENST00000525449C11orf80chr1166583524+22471423872156689

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
ENST00000275815ENST00000346672EPHA1chr7143095694-C11orf80chr1166583524+0.038426250.9615738
ENST00000275815ENST00000360962EPHA1chr7143095694-C11orf80chr1166583524+0.029473460.9705265
ENST00000275815ENST00000527634EPHA1chr7143095694-C11orf80chr1166583524+0.041600420.9583996
ENST00000275815ENST00000540737EPHA1chr7143095694-C11orf80chr1166583524+0.0375535150.9624465
ENST00000275815ENST00000532565EPHA1chr7143095694-C11orf80chr1166583524+0.041600420.9583996
ENST00000275815ENST00000525449EPHA1chr7143095694-C11orf80chr1166583524+0.038594970.96140504

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>26944_26944_1_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000346672_length(amino acids)=689AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAADTQ
EFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAA

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

>26944_26944_2_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000360962_length(amino acids)=726AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKL
QASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELL
ADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWL

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

>26944_26944_3_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000525449_length(amino acids)=689AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAADTQ
EFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELLADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAA

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

>26944_26944_4_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000527634_length(amino acids)=726AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKL
QASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELL
ADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWL

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

>26944_26944_5_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000532565_length(amino acids)=726AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKL
QASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQQLTLEKKDSAQGTEDAPDNSSLELL
ADTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWL

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

>26944_26944_6_EPHA1-C11orf80_EPHA1_chr7_143095694_ENST00000275815_C11orf80_chr11_66583524_ENST00000540737_length(amino acids)=725AA_BP=445
MERRWPLGLGLVLLLCAPLPPGARAKEVTLMDTSKAQGELGWLLDPPKDGWSEQQQILNGTPLYMYQDCPMQGRRDTDHWLRSNWIYRGE
EASRVHVELQFTVRDCKSFPGGAGPLGCKETFNLLYMESDQDVGIQLRRPLFQKVTTVAADQSFTIRDLVSGSVKLNVERCSLGRLTRRG
LYLAFHNPGACVALVSVRVFYQRCPETLNGLAQFPDTLPGPAGLVEVAGTCLPHARASPRPSGAPRMHCSPDGEWLVPVGRCHCEPGYEE
GGSGEACVACPSGSYRMDMDTPHCLTCPQQSTAESEGATICTCESGHYRAPGEGPQVACTGPPSAPRNLSFSASGTQLSLRWEPPADTGG
RQDVRYSVRCSQCQGTAQDGGPCQPCGVGVHFSPGARGLTTPAVHVNGLEPYANYTFNVEAQNGVSGLGSSGHASTSVSISMGHADLVLP
DVSYQVESSEEDQSQTMDPQGQTLLLFLFVDFHSAFPVQQMEIWGVYTLLTTHLNAILVESHSVVQGSIQFTVDKVLEQHHQAAKAQQKL
QASLSVAVNSIMSILTGSTRSSFRKMCLQTLQAADTQEFRTKLHKVFREITQHQFLHHCSCEVKQLTLEKKDSAQGTEDAPDNSSLELLA
DTSGQAENKRLKRGSPRIEEMRALRSARAPSPSEAAPRRPEATAAPLTPRGREHREAHGRALAPGRASLGSRLEDVLWLQEVSNLSEWLS

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Fusion Protein Functional Features


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/chr7:143095694/chr11:66583524)
- 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
EPHA1

Q5JZY3

.
FUNCTION: Receptor for members of the ephrin-A family. Binds to EFNA3, EFNA4 and EFNA5. {ECO:0000269|PubMed:15777695}.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.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618191_329445.3333333333333977.0Compositional biasNote=Cys-rich
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-61827_209445.3333333333333977.0DomainEph LBD
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618332_445445.3333333333333977.0DomainFibronectin type-III 1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618447_538445.3333333333333977.0DomainFibronectin type-III 2
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618624_884445.3333333333333977.0DomainProtein kinase
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618913_976445.3333333333333977.0DomainSAM
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618974_976445.3333333333333977.0MotifPDZ-binding
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618630_638445.3333333333333977.0Nucleotide bindingATP
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-61826_547445.3333333333333977.0Topological domainExtracellular
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618569_976445.3333333333333977.0Topological domainCytoplasmic
HgeneEPHA1chr7:143095694chr11:66583524ENST00000275815-618548_568445.3333333333333977.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
EPHA1
C11orf80


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to EPHA1-C11orf80


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to EPHA1-C11orf80


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource