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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:EDNRB-TBC1D4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EDNRB-TBC1D4
FusionPDB ID: 24993
FusionGDB2.0 ID: 24993
HgeneTgene
Gene symbol

EDNRB

TBC1D4

Gene ID

1910

9882

Gene nameendothelin receptor type BTBC1 domain family member 4
SynonymsABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4AAS160|NIDDM5
Cytomap

13q22.3

13q22.2

Type of geneprotein-codingprotein-coding
Descriptionendothelin receptor type BHirschsprung disease 2endothelin receptor non-selective typeendothelin receptor subtype B1TBC1 domain family member 4TBC (Tre-2, BUB2, CDC16) domain-containing proteinakt substrate of 160 kDa
Modification date2020031520200313
UniProtAcc

P24530

.
Ensembl transtripts involved in fusion geneENST idsENST00000334286, ENST00000377211, 
ENST00000446573, ENST00000475537, 
ENST00000377625, ENST00000425511, 
ENST00000478591, ENST00000377636, 
ENST00000431480, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=484 X 3 X 4=48
# samples 44
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: EDNRB [Title/Abstract] AND TBC1D4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EDNRB(78473994)-TBC1D4(75936743), # samples:1
TBC1D4(75933905)-EDNRB(78472469), # samples:1
Anticipated loss of major functional domain due to fusion event.EDNRB-TBC1D4 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.
EDNRB-TBC1D4 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.
EDNRB-TBC1D4 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.
EDNRB-TBC1D4 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
HgeneEDNRB

GO:0086100

endothelin receptor signaling pathway

1713452


check buttonFusion gene breakpoints across EDNRB (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 TBC1D4 (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
ChimerDB4LGGTCGA-S9-A7IZEDNRBchr13

78473994

-TBC1D4chr13

75936743

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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)
ENST00000446573EDNRBchr1378473994-ENST00000377636TBC1D4chr1375936743-6971145221048501546
ENST00000446573EDNRBchr1378473994-ENST00000431480TBC1D4chr1375936743-6946145221048261538
ENST00000377211EDNRBchr1378473994-ENST00000377636TBC1D4chr1375936743-7136161715350151620
ENST00000377211EDNRBchr1378473994-ENST00000431480TBC1D4chr1375936743-7111161715349911612
ENST00000334286EDNRBchr1378473994-ENST00000377636TBC1D4chr1375936743-6950143118948291546
ENST00000334286EDNRBchr1378473994-ENST00000431480TBC1D4chr1375936743-6925143118948051538

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
ENST00000446573ENST00000377636EDNRBchr1378473994-TBC1D4chr1375936743-0.0004291960.9995708
ENST00000446573ENST00000431480EDNRBchr1378473994-TBC1D4chr1375936743-0.0003900040.99961
ENST00000377211ENST00000377636EDNRBchr1378473994-TBC1D4chr1375936743-0.0004620770.99953794
ENST00000377211ENST00000431480EDNRBchr1378473994-TBC1D4chr1375936743-0.0004167170.9995833
ENST00000334286ENST00000377636EDNRBchr1378473994-TBC1D4chr1375936743-0.0004194350.99958056
ENST00000334286ENST00000431480EDNRBchr1378473994-TBC1D4chr1375936743-0.0003810960.9996189

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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

>24993_24993_1_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000334286_TBC1D4_chr13_75936743_ENST00000377636_length(amino acids)=1546AA_BP=1
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLA
EDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRI
CLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRI
LKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKF
EVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSS
RVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNF
KDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLY
PPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNK
AKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKR
KLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSD
GEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEE
RKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKS
RRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGIS
FVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVA
RVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYS
CEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLR

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>24993_24993_2_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000334286_TBC1D4_chr13_75936743_ENST00000431480_length(amino acids)=1538AA_BP=1
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLA
EDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRI
CLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRI
LKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKF
EVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSS
RVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNF
KDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLY
PPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNK
AKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKR
KLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEISDGEGRKRTS
STCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR
SLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQF
LALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLL
HMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFL
QGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLE
KLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNN

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>24993_24993_3_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000377211_TBC1D4_chr13_75936743_ENST00000377636_length(amino acids)=1620AA_BP=0
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSGHRTPSGAGSS
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGSPPRTISPPPC
QGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFI
QKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYK
TAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCEL
LSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAP
SSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDE
QQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHF
GFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLT
DNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRG
ANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPL
LRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSDGEGRKRTSSTCSNESL
SVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIH
QQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLR
HRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAF
EMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFK
VALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQ
LKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNNKAKIGNKP

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>24993_24993_4_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000377211_TBC1D4_chr13_75936743_ENST00000431480_length(amino acids)=1612AA_BP=0
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSGHRTPSGAGSS
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGSPPRTISPPPC
QGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLAEDWPFGAEMCKLVPFI
QKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRICLLHPVQKTAFMQFYK
TAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRILKLTLYNQNDPNRCEL
LSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKFEVLYCGKVTVTHKKAP
SSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSSRVCFPERILEDSGFDE
QQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNFKDISSCSQGIKHVDHF
GFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLYPPRAKLVIQRHLSSLT
DNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNKAKRSLTSSLENIFSRG
ANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKRKLNLQDGRAQGVRSPL
LRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEISDGEGRKRTSSTCSNESLSVGGTSVT
PRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELRSLWRKAIHQQILLLRM
EKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQFLALQYRLRHRLPNKQQ
PPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLLHMSEEQAFEMLKFLMY
DLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFLQGTEVIFKVALSLLSS
QETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLEKLERANSQLKRQNMDL

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>24993_24993_5_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000446573_TBC1D4_chr13_75936743_ENST00000377636_length(amino acids)=1546AA_BP=1
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLA
EDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRI
CLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRI
LKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKF
EVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSS
RVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNF
KDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLY
PPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNK
AKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKR
KLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEIRQDTASESSD
GEGRKRTSSTCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEE
RKKSKELRSLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKS
RRGEIWQFLALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGIS
FVAGVLLLHMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVA
RVFDIIFLQGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYS
CEDSETLEKLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLR

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>24993_24993_6_EDNRB-TBC1D4_EDNRB_chr13_78473994_ENST00000446573_TBC1D4_chr13_75936743_ENST00000431480_length(amino acids)=1538AA_BP=1
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKLLA
EDWPFGAEMCKLVPFIQKASVGITVLSLCALSIDRYRAVASWSRIKGIGVPKWTAVEIVLIWVVSVVLAVPEAIGFDIITMDYKGSYLRI
CLLHPVQKTAFMQFYKTAKDWWLFSFYFCLPLAITAFFYTLMTCEMLRKKSGMQIALNDHLKQRREVAKTVFCLVLVFALCWLPLHLSRI
LKLTLYNQNDPNRCELLSFLLVLDYIGINMASLNSCINPIALYLVSKRFKNCFKVPDVISSIRQLSKAAMKEDAKPSKDNEDAFYNSQKF
EVLYCGKVTVTHKKAPSSLIDDCMEKFSLHEQQRLKIQGEQRGPDPGEDLADLEVVVPGSPGDCLPEEADGTDTHLGLPAGASQPALTSS
RVCFPERILEDSGFDEQQEFRSRCSSVTGVQRRVHEGSQKSQPRRRHASAPSHVQPSDSEKNRTMLFQVGRFEINLISPDTKSVVLEKNF
KDISSCSQGIKHVDHFGFICRESPEPGLSQYICYVFQCASESLVDEVMLTLKQAFSTAAALQSAKTQIKLCEACPMHSLHKLCERIEGLY
PPRAKLVIQRHLSSLTDNEQADIFERVQKMKPVSDQEENELVILHLRQLCEAKQKTHVHIGEGPSTISNSTIPENATSSGRFKLDILKNK
AKRSLTSSLENIFSRGANRMRGRLGSVDSFERSNSLASEKDYSPGDSPPGTPPASPPSSAWQTFPEEDSDSPQFRRRAHTFSHPPSSTKR
KLNLQDGRAQGVRSPLLRQSSSEQCSNLSSVRRMYKESNSSSSLPSLHTSFSAPSFTAPSFLKSFYQNSGRLSPQYENEISDGEGRKRTS
STCSNESLSVGGTSVTPRRISWRQRIFLRVASPMNKSPSAMQQQDGLDRNELLPLSPLSPTMEEEPLVVFLSGEDDPEKIEERKKSKELR
SLWRKAIHQQILLLRMEKENQKLEASRDELQSRKVKLDYEEVGACQKEVLITWDKKLLNCRAKIRCDMEDIHTLLKEGVPKSRRGEIWQF
LALQYRLRHRLPNKQQPPDISYKELLKQLTAQQHAILVDLGRTFPTHPYFSVQLGPGQLSLFNLLKAYSLLDKEVGYCQGISFVAGVLLL
HMSEEQAFEMLKFLMYDLGFRKQYRPDMMSLQIQMYQLSRLLHDYHRDLYNHLEENEISPSLYAAPWFLTLFASQFSLGFVARVFDIIFL
QGTEVIFKVALSLLSSQETLIMECESFENIVEFLKNTLPDMNTSEMEKIITQVFEMDISKQLHAYEVEYHVLQDELQESSYSCEDSETLE
KLERANSQLKRQNMDLLEKLQVAHTKIQALESNLENLLTRETKMKSLIRTLEQEKMAYQKTVEQLRKLLPADALVNCDLLLRDLNCNPNN

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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/chr13:78473994/chr13:75936743)
- 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
EDNRB

P24530

.
FUNCTION: Non-specific receptor for endothelin 1, 2, and 3. Mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:7536888}.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
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67127_137398.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67164_175398.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67198_218398.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67244_271398.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-6727_101398.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67297_324398.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67351_362398.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78127_137488.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78164_175488.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78198_218488.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78244_271488.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-7827_101488.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78297_324488.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78351_362488.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78390_442488.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67127_137398.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67164_175398.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67198_218398.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67244_271398.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-6727_101398.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67297_324398.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67351_362398.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67102_126398.0443.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67138_163398.0443.0TransmembraneHelical%3B Name%3D2
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67176_197398.0443.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67219_243398.0443.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67272_296398.0443.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67325_350398.0443.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67363_389398.0443.0TransmembraneHelical%3B Name%3D7
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78102_126488.0533.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78138_163488.0533.0TransmembraneHelical%3B Name%3D2
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78176_197488.0533.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78219_243488.0533.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78272_296488.0533.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78325_350488.0533.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78473994chr13:75936743ENST00000377211-78363_389488.0533.0TransmembraneHelical%3B Name%3D7
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67102_126398.0437.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67138_163398.0437.0TransmembraneHelical%3B Name%3D2
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67176_197398.0437.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67219_243398.0437.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67272_296398.0437.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67325_350398.0437.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67363_389398.0437.0TransmembraneHelical%3B Name%3D7
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377625019672_759166.01236.0Compositional biasNote=Ser-rich
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377636021672_759166.01299.0Compositional biasNote=Ser-rich
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000425511020672_7590463.0Compositional biasNote=Ser-rich
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000431480020672_759166.01291.0Compositional biasNote=Ser-rich
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377625019312_468166.01236.0DomainPID 2
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377625019918_1112166.01236.0DomainRab-GAP TBC
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377636021312_468166.01299.0DomainPID 2
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000377636021918_1112166.01299.0DomainRab-GAP TBC
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000425511020312_4680463.0DomainPID 2
TgeneTBC1D4chr13:78473994chr13:75936743ENST0000042551102053_2090463.0DomainPID 1
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000425511020918_11120463.0DomainRab-GAP TBC
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000431480020312_468166.01291.0DomainPID 2
TgeneTBC1D4chr13:78473994chr13:75936743ENST00000431480020918_1112166.01291.0DomainRab-GAP TBC

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEDNRBchr13:78473994chr13:75936743ENST00000334286-67390_442398.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78473994chr13:75936743ENST00000446573-67390_442398.0437.0Topological domainCytoplasmic
TgeneTBC1D4chr13:78473994chr13:75936743ENST0000037762501953_209166.01236.0DomainPID 1
TgeneTBC1D4chr13:78473994chr13:75936743ENST0000037763602153_209166.01299.0DomainPID 1
TgeneTBC1D4chr13:78473994chr13:75936743ENST0000043148002053_209166.01291.0DomainPID 1


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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
EDNRB
TBC1D4


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 EDNRB-TBC1D4


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 EDNRB-TBC1D4


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