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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:ETV6-PLEKHG6

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ETV6-PLEKHG6
FusionPDB ID: 27740
FusionGDB2.0 ID: 27740
HgeneTgene
Gene symbol

ETV6

PLEKHG6

Gene ID

2120

55200

Gene nameETS variant transcription factor 6pleckstrin homology and RhoGEF domain containing G6
SynonymsTEL|TEL/ABL|THC5MyoGEF
Cytomap

12p13.2

12p13.31

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)pleckstrin homology domain-containing family G member 6PH domain-containing family G member 6myosin II interacting GEFmyosin interacting guanine nucleotide exchange factorpleckstrin homology domain containing, family G (with RhoGef domain) member 6
Modification date2020031320200313
UniProtAcc

P41212

.
Ensembl transtripts involved in fusion geneENST idsENST00000544715, ENST00000396373, 
ENST00000011684, ENST00000396988, 
ENST00000449001, ENST00000536531, 
ENST00000304581, ENST00000538208, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score59 X 37 X 25=545753 X 5 X 3=45
# samples 584
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/45*10)=-0.169925001442312
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ETV6 [Title/Abstract] AND PLEKHG6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ETV6(11803094)-PLEKHG6(6424171), # samples:3
Anticipated loss of major functional domain due to fusion event.ETV6-PLEKHG6 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.
ETV6-PLEKHG6 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.
ETV6-PLEKHG6 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.
ETV6-PLEKHG6 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
HgeneETV6

GO:0000122

negative regulation of transcription by RNA polymerase II

10514502


check buttonFusion gene breakpoints across ETV6 (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 PLEKHG6 (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
ChimerDB4LUADTCGA-62-A46O-01AETV6chr12

11803094

-PLEKHG6chr12

6424171

+
ChimerDB4LUADTCGA-62-A46O-01AETV6chr12

11803094

+PLEKHG6chr12

6424171

+
ChimerDB4LUADTCGA-62-A46O-01AETV6chr12

11803094

+PLEKHG6chr12

6424720

+
ChimerDB4LUADTCGA-62-A46OETV6chr12

11803094

+PLEKHG6chr12

6424170

+


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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)
ENST00000396373ETV6chr1211803094+ENST00000011684PLEKHG6chr126424171+27463072742385703
ENST00000396373ETV6chr1211803094+ENST00000536531PLEKHG6chr126424171+15173072741500408
ENST00000396373ETV6chr1211803094+ENST00000396988PLEKHG6chr126424171+27463072742385703
ENST00000396373ETV6chr1211803094+ENST00000449001PLEKHG6chr126424171+27263072742385703
ENST00000396373ETV6chr1211803094+ENST00000011684PLEKHG6chr126424170+27463072742385703
ENST00000396373ETV6chr1211803094+ENST00000536531PLEKHG6chr126424170+15173072741500408
ENST00000396373ETV6chr1211803094+ENST00000396988PLEKHG6chr126424170+27463072742385703
ENST00000396373ETV6chr1211803094+ENST00000449001PLEKHG6chr126424170+27263072742385703
ENST00000396373ETV6chr1211803094+ENST00000011684PLEKHG6chr126424720+25813072742220648
ENST00000396373ETV6chr1211803094+ENST00000536531PLEKHG6chr126424720+13523072741335353
ENST00000396373ETV6chr1211803094+ENST00000396988PLEKHG6chr126424720+25813072742220648
ENST00000396373ETV6chr1211803094+ENST00000449001PLEKHG6chr126424720+25613072742220648

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
ENST00000396373ENST00000011684ETV6chr1211803094+PLEKHG6chr126424171+0.0092395890.99076045
ENST00000396373ENST00000536531ETV6chr1211803094+PLEKHG6chr126424171+0.0273776170.97262233
ENST00000396373ENST00000396988ETV6chr1211803094+PLEKHG6chr126424171+0.0092395890.99076045
ENST00000396373ENST00000449001ETV6chr1211803094+PLEKHG6chr126424171+0.0103616270.9896383
ENST00000396373ENST00000011684ETV6chr1211803094+PLEKHG6chr126424170+0.0092395890.99076045
ENST00000396373ENST00000536531ETV6chr1211803094+PLEKHG6chr126424170+0.0273776170.97262233
ENST00000396373ENST00000396988ETV6chr1211803094+PLEKHG6chr126424170+0.0092395890.99076045
ENST00000396373ENST00000449001ETV6chr1211803094+PLEKHG6chr126424170+0.0103616270.9896383
ENST00000396373ENST00000011684ETV6chr1211803094+PLEKHG6chr126424720+0.0153054720.98469454
ENST00000396373ENST00000536531ETV6chr1211803094+PLEKHG6chr126424720+0.0246830170.975317
ENST00000396373ENST00000396988ETV6chr1211803094+PLEKHG6chr126424720+0.0153054720.98469454
ENST00000396373ENST00000449001ETV6chr1211803094+PLEKHG6chr126424720+0.016738620.9832614

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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

>27740_27740_1_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424170_ENST00000011684_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_2_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424170_ENST00000396988_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_3_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424170_ENST00000449001_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_4_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424170_ENST00000536531_length(amino acids)=408AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD

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

>27740_27740_5_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424171_ENST00000011684_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_6_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424171_ENST00000396988_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_7_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424171_ENST00000449001_length(amino acids)=703AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD
KAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLEKTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRES
PSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGTLIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELR
DIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVVETLHRARLRGQLPSSPTHADSAGESPWESSGEEEE

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

>27740_27740_8_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424171_ENST00000536531_length(amino acids)=408AA_BP=11
MSETPAQCSIKELTKAHELEVRLHTFSMFGMPRLPPEDRRHWEIGEGGDSGLTIEKSWRELVPGHKEMSQELCHQQEALWELLTTELIYV
RKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLEETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRV
KQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHAVLKRSPEARAQEALNAMIEAVESFLRHINGQVRQG
EEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLLEGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKAD

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

>27740_27740_9_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424720_ENST00000011684_length(amino acids)=648AA_BP=11
MSETPAQCSIKEMSQELCHQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLE
ETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHA
VLKRSPEARAQEALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLL
EGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKADKAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLE
KTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRESPSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGT
LIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELRDIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVV
ETLHRARLRGQLPSSPTHADSAGESPWESSGEEEEEGPLFLKAGHTSLRPMRAEDMLREIREELASQRIEGAEEPRDSRPRKLTRAQLQR

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

>27740_27740_10_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424720_ENST00000396988_length(amino acids)=648AA_BP=11
MSETPAQCSIKEMSQELCHQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLE
ETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHA
VLKRSPEARAQEALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLL
EGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKADKAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLE
KTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRESPSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGT
LIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELRDIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVV
ETLHRARLRGQLPSSPTHADSAGESPWESSGEEEEEGPLFLKAGHTSLRPMRAEDMLREIREELASQRIEGAEEPRDSRPRKLTRAQLQR

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

>27740_27740_11_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424720_ENST00000449001_length(amino acids)=648AA_BP=11
MSETPAQCSIKEMSQELCHQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLE
ETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHA
VLKRSPEARAQEALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLL
EGPVRVKEGREGKLDVYLFLFSDVLLVTKPQRKADKAKVIRPPLMLEKLVCQPLRDPNSFLLIHLTEFQCVSSALLVHCPSPTDRAQWLE
KTQQAQAALQKLKAEEYVQQKRELLTLYRDQDRESPSTRPSTPSLEGSQSSAEGRTPEFSTIIPHLVVTEDTDEDAPLVPDDTSDSGYGT
LIPGTPTGSRSPLSRLRQRALRRDPRLTFSTLELRDIPLRPHPPDPQAPQRRSAPELPEGILKGGSLPQEDPPTWSEEEDGASERGNVVV
ETLHRARLRGQLPSSPTHADSAGESPWESSGEEEEEGPLFLKAGHTSLRPMRAEDMLREIREELASQRIEGAEEPRDSRPRKLTRAQLQR

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

>27740_27740_12_ETV6-PLEKHG6_ETV6_chr12_11803094_ENST00000396373_PLEKHG6_chr12_6424720_ENST00000536531_length(amino acids)=353AA_BP=11
MSETPAQCSIKEMSQELCHQQEALWELLTTELIYVRKLKIMTDLLAAGLLNLQRVGLLMEVSAETLFGNVPSLIRTHRSFWDEVLGPTLE
ETRASGQPLDPIGLQSGFLTFGQRFHPYVQYCLRVKQTMAYAREQQETNPLFHAFVQWCEKHKRSGRQMLCDLLIKPHQRITKYPLLLHA
VLKRSPEARAQEALNAMIEAVESFLRHINGQVRQGEEQESLAAAAQRIGPYEVLEPPSDEVEKNLRPFSTLDLTSPMLGVASEHTRQLLL

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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/chr12:11803094/chr12:6424171)
- 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
ETV6

P41212

.
FUNCTION: Transcriptional repressor; binds to the DNA sequence 5'-CCGGAAGT-3'. Plays a role in hematopoiesis and malignant transformation. {ECO:0000269|PubMed:25581430}.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
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000011684216364_36798.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000011684216714_71898.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424170ENST0000030458104364_3670321.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424170ENST0000030458104714_7180321.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000396988216364_36798.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000396988216714_71898.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000449001115364_36766.0759.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000449001115714_71866.0759.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000011684216364_36798.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000011684216714_71898.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424171ENST0000030458104364_3670321.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424171ENST0000030458104714_7180321.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000396988216364_36798.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000396988216714_71898.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000449001115364_36766.0759.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000449001115714_71866.0759.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000011684316364_367153.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000011684316714_718153.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424720ENST0000030458104364_3670321.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424720ENST0000030458104714_7180321.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000396988316364_367153.0791.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000396988316714_718153.0791.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000449001215364_367121.0759.0Compositional biasNote=Poly-Ala
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000449001215714_718121.0759.0Compositional biasNote=Poly-Glu
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000011684216161_35398.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000011684216409_50998.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424170ENST0000030458104161_3530321.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424170ENST0000030458104409_5090321.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000396988216161_35398.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000396988216409_50998.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000449001115161_35366.0759.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424170ENST00000449001115409_50966.0759.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000011684216161_35398.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000011684216409_50998.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424171ENST0000030458104161_3530321.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424171ENST0000030458104409_5090321.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000396988216161_35398.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000396988216409_50998.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000449001115161_35366.0759.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424171ENST00000449001115409_50966.0759.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000011684316161_353153.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000011684316409_509153.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424720ENST0000030458104161_3530321.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424720ENST0000030458104409_5090321.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000396988316161_353153.0791.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000396988316409_509153.0791.0DomainPH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000449001215161_353121.0759.0DomainDH
TgenePLEKHG6chr12:11803094chr12:6424720ENST00000449001215409_509121.0759.0DomainPH

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETV6chr12:11803094chr12:6424170ENST00000396373+18339_42011.0453.0DNA bindingETS
HgeneETV6chr12:11803094chr12:6424171ENST00000396373+18339_42011.0453.0DNA bindingETS
HgeneETV6chr12:11803094chr12:6424720ENST00000396373+18339_42011.0453.0DNA bindingETS
HgeneETV6chr12:11803094chr12:6424170ENST00000396373+1840_12411.0453.0DomainPNT
HgeneETV6chr12:11803094chr12:6424171ENST00000396373+1840_12411.0453.0DomainPNT
HgeneETV6chr12:11803094chr12:6424720ENST00000396373+1840_12411.0453.0DomainPNT


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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
ETV6KAT5, GAB2, ETV6, GRB2, CRKL, ACTA1, HDAC9, FLI1, FBXL6, SKP1, L3MBTL1, IRF8, NCOR1, SIN3A, HDAC3, UBE2I, ELAVL1, PDGFRB, SUMO1, SOCS1, SOCS3, TRAF3, SOX2, HDAC6, PIN1, AP1M1, WDYHV1, LRP6, LRP5, NID2, ETV7, USP7, VPS26B, NFATC2, EGLN3, NKX2-1, TRAF2, AXIN1, ESR2, LMNA, TP53BP1, BRCA1, MDC1, KIAA1429, WWP2, ESR1, BRD4, NFE2L2, MAD2L1, B4GALT2, KLHL9, KLHL13, SUMO2, ARHGAP32, SEC16A, XPOT, PIAS2, CEP152, NUP214, NUP62, NUP98, SEC13, RBM11, ECH1, ZNF146, TRIP6, CEP85, NUP54, TAB3, ALMS1, CEP192, PPIL4, RQCD1, SDCCAG3, NUP88, TBL1Y, KIAA1671, C2orf44, GRPEL1, TNRC6C, MID1IP1, CYLD, ZMYM2, LIMD1, SPATA2, TNRC6B, TIMM13, FLOT1, LGALS3BP, FLOT2, HNRNPUL1,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ETV6all structure
PLEKHG6


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 ETV6-PLEKHG6


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 ETV6-PLEKHG6


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
HgeneETV6C4015537THROMBOCYTOPENIA 54CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneETV6C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma3CTD_human
HgeneETV6C0040034Thrombocytopenia3CTD_human;GENOMICS_ENGLAND
HgeneETV6C0023480Leukemia, Myelomonocytic, Chronic2ORPHANET
HgeneETV6C1332965Congenital Mesoblastic Nephroma2ORPHANET
HgeneETV6C0006413Burkitt Lymphoma1ORPHANET
HgeneETV6C0013146Drug abuse1CTD_human
HgeneETV6C0013170Drug habituation1CTD_human
HgeneETV6C0013222Drug Use Disorders1CTD_human
HgeneETV6C0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023453L2 Acute Lymphoblastic Leukemia1CTD_human
HgeneETV6C0023467Leukemia, Myelocytic, Acute1CGI;CTD_human;GENOMICS_ENGLAND
HgeneETV6C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneETV6C0038580Substance Dependence1CTD_human
HgeneETV6C0038586Substance Use Disorders1CTD_human
HgeneETV6C0087031Juvenile-Onset Still Disease1CTD_human
HgeneETV6C0236969Substance-Related Disorders1CTD_human
HgeneETV6C0238463Papillary thyroid carcinoma1ORPHANET
HgeneETV6C0376544Hematopoietic Neoplasms1CTD_human
HgeneETV6C0376545Hematologic Neoplasms1CTD_human
HgeneETV6C0740858Substance abuse problem1CTD_human
HgeneETV6C1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
HgeneETV6C1510472Drug Dependence1CTD_human
HgeneETV6C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1ORPHANET
HgeneETV6C1838656Macrocytosis, Familial1CTD_human
HgeneETV6C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneETV6C3495559Juvenile arthritis1CTD_human
HgeneETV6C3714758Juvenile psoriatic arthritis1CTD_human
HgeneETV6C4316881Prescription Drug Abuse1CTD_human
HgeneETV6C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneETV6C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human