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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-PRDM16

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ETV6-PRDM16
FusionPDB ID: 27741
FusionGDB2.0 ID: 27741
HgeneTgene
Gene symbol

ETV6

PRDM16

Gene ID

2120

63976

Gene nameETS variant transcription factor 6PR/SET domain 16
SynonymsTEL|TEL/ABL|THC5CMD1LL|KMT8F|LVNC8|MEL1|PFM13
Cytomap

12p13.2

1p36.32

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor ETV6ETS translocation variant 6ETS variant 6ETS-related protein Tel1TEL1 oncogeneets variant gene 6 (TEL oncogene)histone-lysine N-methyltransferase PRDM16MDS1/EVI1-like gene 1PR domain 16PR domain containing 16PR domain zinc finger protein 16transcription factor MEL1
Modification date2020031320200313
UniProtAcc

P41212

.
Ensembl transtripts involved in fusion geneENST idsENST00000396373, ENST00000544715, 
ENST00000512462, ENST00000270722, 
ENST00000378391, ENST00000378398, 
ENST00000441472, ENST00000442529, 
ENST00000511072, ENST00000514189, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score59 X 37 X 25=545759 X 8 X 7=504
# samples 589
** MAII scorelog2(58/54575*10)=-6.55604351475058
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/504*10)=-2.48542682717024
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 PRDM16 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ETV6(12006497)-PRDM16(3102687), # samples:2
Anticipated loss of major functional domain due to fusion event.ETV6-PRDM16 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-PRDM16 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-PRDM16 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-PRDM16 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

TgenePRDM16

GO:0000122

negative regulation of transcription by RNA polymerase II

19049980

TgenePRDM16

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

14656887

TgenePRDM16

GO:0045892

negative regulation of transcription, DNA-templated

12816872

TgenePRDM16

GO:0045893

positive regulation of transcription, DNA-templated

25578880


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 PRDM16 (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
ChimerDB4acute myeloid leukemiaFR719953ETV6chr12

12006497

PRDM16chr1

3102687
ChiTaRS5.0N/AFR719953ETV6chr12

12006497

+PRDM16chr1

3102687

+


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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)
ENST00000396373ETV6chr1212006497ENST00000511072PRDM16chr13102687489073727442361320
ENST00000396373ETV6chr1212006497ENST00000442529PRDM16chr13102687927973727444701398
ENST00000396373ETV6chr1212006497ENST00000378398PRDM16chr13102687933973727445301418
ENST00000396373ETV6chr1212006497ENST00000441472PRDM16chr13102687933673727445271417
ENST00000396373ETV6chr1212006497ENST00000378391PRDM16chr13102687608473727444731399
ENST00000396373ETV6chr1212006497ENST00000514189PRDM16chr13102687488773727442331319
ENST00000396373ETV6chr1212006497ENST00000270722PRDM16chr13102687934173727445301418

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
ENST00000396373ENST00000511072ETV6chr1212006497PRDM16chr131026870.0024824270.9975176
ENST00000396373ENST00000442529ETV6chr1212006497PRDM16chr131026870.0007021340.99929786
ENST00000396373ENST00000378398ETV6chr1212006497PRDM16chr131026870.0004928020.9995072
ENST00000396373ENST00000441472ETV6chr1212006497PRDM16chr131026870.0004950940.9995049
ENST00000396373ENST00000378391ETV6chr1212006497PRDM16chr131026870.0010749230.99892503
ENST00000396373ENST00000514189ETV6chr1212006497PRDM16chr131026870.0015323620.9984676
ENST00000396373ENST00000270722ETV6chr1212006497PRDM16chr131026870.0008810490.999119

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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

>27741_27741_1_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000270722_length(amino acids)=1418AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLG
TVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEERE
YKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEV
CHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEY
FPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEK
FESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVF
YSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSP
RDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARMP
QQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPT
LSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLK
KHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDV
EEEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEV

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

>27741_27741_2_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000378391_length(amino acids)=1399AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLG
TVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEERE
YKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEV
CHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEY
FPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEK
FESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVF
YSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSP
RDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARMP
QQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPT
LSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLK
KHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDV
EEEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEV

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

>27741_27741_3_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000378398_length(amino acids)=1418AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQVIYYKVIKDIEPGEELLVHVKEGVYPL
GTVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEER
EYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICE
VCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNE
YFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEE
KFESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPV
FYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKS
PRDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARM
PQQPPLHYAKPSPFFMDPIYRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPT
LSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLK
KHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDV
EEEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEV

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

>27741_27741_4_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000441472_length(amino acids)=1417AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLG
TVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEERE
YKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEV
CHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEY
FPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEK
FESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVF
YSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSP
RDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARMP
QQPPLHYAKPSPFFMDPIYRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTL
SDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLKK
HEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVE
EEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEVK

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

>27741_27741_5_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000442529_length(amino acids)=1398AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPLG
TVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEERE
YKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICEV
CHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNEY
FPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEEK
FESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPVF
YSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKSP
RDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARMP
QQPPLHYAKPSPFFMDPIYRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPTL
SDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLKK
HEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDVE
EEDDDDLEEDDEDSLAGKSQDDTVSPAPEPQAAYEDEEDEEPAASLAVGFDHTRRCAEDHEGGLLALEPMPTFGKGLDLRRAAEEAFEVK

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

>27741_27741_6_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000511072_length(amino acids)=1320AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKQISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPL
GTVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEER
EYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICE
VCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNE
YFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEE
KFESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPV
FYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKS
PRDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARM
PQQPPLHYAKPSPFFMDPIYSRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPP
TLSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHL
KKHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQED

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

>27741_27741_7_ETV6-PRDM16_ETV6_chr12_12006497_ENST00000396373_PRDM16_chr1_3102687_ENST00000514189_length(amino acids)=1319AA_BP=154
MSETPAQCSIKQERISYTPPESPVPSYASSTPLHVPVPRALRMEEDSIRLPAHLRLQPIYWSRDDVAQWLKWAENEFSLRPIDSNTFEMN
GKALLLLTKEDFRYRSPHSGDVLYELLQHILKQRKPRILFSPFFHPGNSIHTQPEVILHQNHEEGDGDVVNNMYEPNRDLLASHSAEDEA
EDSAMSPIPVGPPSPFPTSEDFTPKEGSPYEAPVYIPEDIPIPADFELRESSIPGAGLGVWAKRKMEAGERLGPCVVVPRAAAKETDFGW
EQILTDVEVSPQEGCITKQISEDLGSEKFCVDANQAGAGSWLKYIRVACSCDDQNLTMCQISEQIYYKVIKDIEPGEELLVHVKEGVYPL
GTVPPGLDEEPTFRCDECDELFQSKLDLRRHKKYTCGSVGAALYEGLAEELKPEGLGGGSGQAHECKDCERMFPNKYSLEQHMVIHTEER
EYKCDQCPKAFNWKSNLIRHQMSHDSGKRFECENCVKVFTDPSNLQRHIRSQHVGARAHACPDCGKTFATSSGLKQHKHIHSTVKPFICE
VCHKSYTQFSNLCRHKRMHADCRTQIKCKDCGQMFSTTSSLNKHRRFCEGKNHYTPGGIFAPGLPLTPSPMMDKAKPSPSLNHASLGFNE
YFPSRPHPGSLPFSTAPPTFPALTPGFPGIFPPSLYPRPPLLPPTSLLKSPLNHTQDAKLPSPLGNPALPLVSAVSNSSQGTTAAAGPEE
KFESRLEDSCVEKLKTRSSDMSDGSDFEDVNTTTGTDLDTTTGTGSDLDSDVDSDPDKDKGKGKSAEGQPKFGGGLAPPGAPNSVAEVPV
FYSQHSFFPPPDEQLLTATGAAGDSIKAIASIAEKYFGPGFMGMQEKKLGSLPYHSAFPFQFLPNFPHSLYPFTDRALAHNLLVKAEPKS
PRDALKVGGPSAECPFDLTTKPKDVKPILPMPKGPSAPASGEEQPLDLSIGSRARASQNGGGREPRKNHVYGERKLGAGEGLPQVCPARM
PQQPPLHYAKPSPFFMDPIYRVEKRKVTDPVGALKEKYLRPSPLLFHPQMSAIETMTEKLESFAAMKADSGSSLQPLPHHPFNFRSPPPT
LSDPILRKGKERYTCRYCGKIFPRSANLTRHLRTHTGEQPYRCKYCDRSFSISSNLQRHVRNIHNKEKPFKCHLCNRCFGQQTNLDRHLK
KHEHENAPVSQHPGVLTNHLGTSASSPTSESDNHALLDEKEDSYFSEIRNFIANSEMNQASTRTEKRADMQIVDGSAQCPGLASEKQEDV

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

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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/chr12:12006497/chr1:3102687)
- 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
HgeneETV6chr12:12006497chr1:3102687ENST00000396373+4840_124154.33333333333334453.0DomainPNT
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017459_55712.3333333333333341277.0Compositional biasNote=Pro-rich
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017459_55712.3333333333333341258.0Compositional biasNote=Pro-rich
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018459_55712.3333333333333341277.0Compositional biasNote=Pro-rich
TgenePRDM16chr12:12006497chr1:3102687ENST0000027072201782_21112.3333333333333341277.0DomainSET
TgenePRDM16chr12:12006497chr1:3102687ENST0000037839101782_21112.3333333333333341258.0DomainSET
TgenePRDM16chr12:12006497chr1:3102687ENST0000037839801882_21112.3333333333333341277.0DomainSET
TgenePRDM16chr12:12006497chr1:3102687ENST000002707220171008_103212.3333333333333341277.0Zinc fingerC2H2-type 10
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017230_25312.3333333333333341277.0Zinc fingerC2H2-type 1%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017281_30312.3333333333333341277.0Zinc fingerC2H2-type 2
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017309_33112.3333333333333341277.0Zinc fingerC2H2-type 3
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017337_36012.3333333333333341277.0Zinc fingerC2H2-type 4
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017366_38812.3333333333333341277.0Zinc fingerC2H2-type 5
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017394_41612.3333333333333341277.0Zinc fingerC2H2-type 6
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017423_44512.3333333333333341277.0Zinc fingerC2H2-type 7%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017951_97312.3333333333333341277.0Zinc fingerC2H2-type 8
TgenePRDM16chr12:12006497chr1:3102687ENST00000270722017979_100212.3333333333333341277.0Zinc fingerC2H2-type 9
TgenePRDM16chr12:12006497chr1:3102687ENST000003783910171008_103212.3333333333333341258.0Zinc fingerC2H2-type 10
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017230_25312.3333333333333341258.0Zinc fingerC2H2-type 1%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017281_30312.3333333333333341258.0Zinc fingerC2H2-type 2
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017309_33112.3333333333333341258.0Zinc fingerC2H2-type 3
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017337_36012.3333333333333341258.0Zinc fingerC2H2-type 4
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017366_38812.3333333333333341258.0Zinc fingerC2H2-type 5
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017394_41612.3333333333333341258.0Zinc fingerC2H2-type 6
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017423_44512.3333333333333341258.0Zinc fingerC2H2-type 7%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017951_97312.3333333333333341258.0Zinc fingerC2H2-type 8
TgenePRDM16chr12:12006497chr1:3102687ENST00000378391017979_100212.3333333333333341258.0Zinc fingerC2H2-type 9
TgenePRDM16chr12:12006497chr1:3102687ENST000003783980181008_103212.3333333333333341277.0Zinc fingerC2H2-type 10
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018230_25312.3333333333333341277.0Zinc fingerC2H2-type 1%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018281_30312.3333333333333341277.0Zinc fingerC2H2-type 2
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018309_33112.3333333333333341277.0Zinc fingerC2H2-type 3
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018337_36012.3333333333333341277.0Zinc fingerC2H2-type 4
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018366_38812.3333333333333341277.0Zinc fingerC2H2-type 5
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018394_41612.3333333333333341277.0Zinc fingerC2H2-type 6
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018423_44512.3333333333333341277.0Zinc fingerC2H2-type 7%3B atypical
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018951_97312.3333333333333341277.0Zinc fingerC2H2-type 8
TgenePRDM16chr12:12006497chr1:3102687ENST00000378398018979_100212.3333333333333341277.0Zinc fingerC2H2-type 9

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneETV6chr12:12006497chr1:3102687ENST00000396373+48339_420154.33333333333334453.0DNA bindingETS


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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
PRDM16


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-PRDM16


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-PRDM16


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