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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-COL4A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EDNRB-COL4A1
FusionPDB ID: 24990
FusionGDB2.0 ID: 24990
HgeneTgene
Gene symbol

EDNRB

COL4A1

Gene ID

1910

1282

Gene nameendothelin receptor type Bcollagen type IV alpha 1 chain
SynonymsABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4ABSVD|BSVD1|PADMAL|RATOR
Cytomap

13q22.3

13q34

Type of geneprotein-codingprotein-coding
Descriptionendothelin receptor type BHirschsprung disease 2endothelin receptor non-selective typeendothelin receptor subtype B1collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain
Modification date2020031520200313
UniProtAcc

P24530

P02462

Ensembl transtripts involved in fusion geneENST idsENST00000334286, ENST00000377211, 
ENST00000446573, ENST00000475537, 
ENST00000467182, ENST00000375820, 
ENST00000543140, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 3=4814 X 14 X 7=1372
# samples 416
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1372*10)=-3.10013667128545
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 COL4A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EDNRB(78492226)-COL4A1(110895081), # samples:1
Anticipated loss of major functional domain due to fusion event.EDNRB-COL4A1 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-COL4A1 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 COL4A1 (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
ChimerDB4KIRCTCGA-A3-A8OW-01AEDNRBchr13

78492226

-COL4A1chr13

110895081

-


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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)
ENST00000446573EDNRBchr1378492226-ENST00000375820COL4A1chr13110895081-705974121056661818
ENST00000446573EDNRBchr1378492226-ENST00000543140COL4A1chr13110895081-31007412102216668
ENST00000377211EDNRBchr1378492226-ENST00000375820COL4A1chr13110895081-722490615358311892
ENST00000377211EDNRBchr1378492226-ENST00000543140COL4A1chr13110895081-32659061532381742
ENST00000334286EDNRBchr1378492226-ENST00000375820COL4A1chr13110895081-703872018956451818
ENST00000334286EDNRBchr1378492226-ENST00000543140COL4A1chr13110895081-30797201892195668

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
ENST00000446573ENST00000375820EDNRBchr1378492226-COL4A1chr13110895081-0.0010044920.9989955
ENST00000446573ENST00000543140EDNRBchr1378492226-COL4A1chr13110895081-0.0029104680.99708956
ENST00000377211ENST00000375820EDNRBchr1378492226-COL4A1chr13110895081-0.0010275210.99897254
ENST00000377211ENST00000543140EDNRBchr1378492226-COL4A1chr13110895081-0.0137259540.98627406
ENST00000334286ENST00000375820EDNRBchr1378492226-COL4A1chr13110895081-0.0009703640.99902964
ENST00000334286ENST00000543140EDNRBchr1378492226-COL4A1chr13110895081-0.0028456660.99715436

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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

>24990_24990_1_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000334286_COL4A1_chr13_110895081_ENST00000375820_length(amino acids)=1818AA_BP=1165
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGC
AGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPG
IPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPP
GPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSP
GFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERG
EKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGP
QGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMTGRAGSPGRDGHPGLPG
PKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPG
PQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIP
GTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGP
KGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGL
PGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGT
PGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSP
GLPGEKGDKGLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPG
IPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGM
PGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKG
QQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGY
SLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVH
SQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLK

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>24990_24990_2_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000334286_COL4A1_chr13_110895081_ENST00000543140_length(amino acids)=668AA_BP=250
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGC
AGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPG
IPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPP
GPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSP
GFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERG
EKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGP

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>24990_24990_3_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000377211_COL4A1_chr13_110895081_ENST00000375820_length(amino acids)=1892AA_BP=1239
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSGHRTPSGAGSS
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGSPPRTISPPPC
QGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGCAGSGCGKCDCHGVKGQ
KGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGP
PGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGP
KGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQG
PQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPS
GRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAK
GDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMTGRAGSPGRDGHPGLPGPKGSPGSVGLKGERGP
PGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPGPQGDRGFPGTPGRPGL
PGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIPGTPGEKGSIGVPGVPG
EHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGPKGDKGAQGLPGITGQS
GLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGLPGKPGSMDKVDMGSMK
GQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGTPGEKGVPGIPGPQGSP
GLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSPGLPGEKGDKGLPGLDG
IPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPGIPGSKGEQGFMGPPGP
QGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGMPGIGGSPGITGSKGDM
GPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKGQQGVTGLVGIPGPPGI
PGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGYSLLYVQGNERAHGQDL
GTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVHSQTIQIPPCPSGWSSL
WIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLKAGELRTHVSRCQVCMR

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>24990_24990_4_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000377211_COL4A1_chr13_110895081_ENST00000543140_length(amino acids)=742AA_BP=324
MNKSTCLMAAETPSKRWRLHCLAFSQRFVRAGPACSSREACSSPRAGWNPAGFRLPGRWSPFVALHLVCQIREALKLRSGHRTPSGAGSS
MQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKGDRTAGSPPRTISPPPC
QGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGCAGSGCGKCDCHGVKGQ
KGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPGIPGCNGTKGERGPLGP
PGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPPGPPGEKGQMGLSFQGP
KGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSPGFPGEPGYPGLIGRQG
PQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERGEKGDRGFPGTSLPGPS
GRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGPQGPPGEIGFPGQPGAK

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>24990_24990_5_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000446573_COL4A1_chr13_110895081_ENST00000375820_length(amino acids)=1818AA_BP=1165
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGC
AGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPG
IPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPP
GPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSP
GFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERG
EKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGP
QGPPGEIGFPGQPGAKGDRGLPGRDGVAGVPGPQGTPGLIGQPGAKGEPGEFYFDLRLKGDKGDPGFPGQPGMTGRAGSPGRDGHPGLPG
PKGSPGSVGLKGERGPPGGVGFPGSRGDTGPPGPPGYGPAGPIGDKGQAGFPGGPGSPGLPGPKGEPGKIVPLPGPPGAEGLPGSPGFPG
PQGDRGFPGTPGRPGLPGEKGAVGQPGIGFPGPPGPKGVDGLPGDMGPPGTPGRPGFNGLPGNPGVQGQKGEPGVGLPGLKGLPGLPGIP
GTPGEKGSIGVPGVPGEHGAIGPPGLQGIRGEPGPPGLPGSVGSPGVPGIGPPGARGPPGGQGPPGLSGPPGIKGEKGFPGFPGLDMPGP
KGDKGAQGLPGITGQSGLPGLPGQQGAPGIPGFPGSKGEMGVMGTPGQPGSPGPVGAPGLPGEKGDHGFPGSSGPRGDPGLKGDKGDVGL
PGKPGSMDKVDMGSMKGQKGDQGEKGQIGPIGEKGSRGDPGTPGVPGKDGQAGQPGQPGPKGDPGISGTPGAPGLPGPKGSVGGMGLPGT
PGEKGVPGIPGPQGSPGLPGDKGAKGEKGQAGPPGIGIPGLRGEKGDQGIAGFPGSPGEKGEKGSIGIPGMPGSPGLKGSPGSVGYPGSP
GLPGEKGDKGLPGLDGIPGVKGEAGLPGTPGPTGPAGQKGEPGSDGIPGSAGEKGEPGLPGRGFPGFPGAKGDKGSKGEVGFPGLAGSPG
IPGSKGEQGFMGPPGPQGQPGLPGSPGHATEGPKGDRGPQGQPGLPGLPGPMGPPGLPGIDGVKGDKGNPGWPGAPGVPGPKGDPGFQGM
PGIGGSPGITGSKGDMGPPGVPGFQGPKGLPGLQGIKGDQGDQGVPGAKGLPGPPGPPGPYDIIKGEPGLPGPEGPPGLKGLQGLPGPKG
QQGVTGLVGIPGPPGIPGFDGAPGQKGEMGPAGPTGPRGFPGPPGPDGLPGSMGPPGTPSVDHGFLVTRHSQTIDDPQCPSGTKILYHGY
SLLYVQGNERAHGQDLGTAGSCLRKFSTMPFLFCNINNVCNFASRNDYSYWLSTPEPMPMSMAPITGENIRPFISRCAVCEAPAMVMAVH
SQTIQIPPCPSGWSSLWIGYSFVMHTSAGAEGSGQALASPGSCLEEFRSAPFIECHGRGTCNYYANAYSFWLATIERSEMFKKPTPSTLK

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>24990_24990_6_EDNRB-COL4A1_EDNRB_chr13_78492226_ENST00000446573_COL4A1_chr13_110895081_ENST00000543140_length(amino acids)=668AA_BP=250
MKLRSGHRTPSGAGSSMQPPPSLCGRALVALVLACGLSRIWGEERGFPPDRATPLLQTAEIMTPPTKTLWPKGSNASLARSLAPAEVPKG
DRTAGSPPRTISPPPCQGPIEIKETFKYINTVVSCLVFVLGIIGNSTLLRIIYKNKCMRNGPNILIASLALGDLLHIVIDIPINVYKGGC
AGSGCGKCDCHGVKGQKGERGLPGLQGVIGFPGMQGPEGPQGPPGQKGDTGEPGLPGTKGTRGPPGASGYPGNPGLPGIPGQDGPPGPPG
IPGCNGTKGERGPLGPPGLPGFAGNPGPPGLPGMKGDPGEILGHVPGMLLKGERGFPGIPGTPGPPGLPGLQGPVGPPGFTGPPGPPGPP
GPPGEKGQMGLSFQGPKGDKGDQGVSGPPGVPGQAQVQEKGDFATKGEKGQKGEPGFQGMPGVGEKGEPGKPGPRGKPGKDGDKGEKGSP
GFPGEPGYPGLIGRQGPQGEKGEAGPPGPPGIVIGTGPLGEKGERGYPGTPGPRGEPGPKGFPGLPGQPGPPGLPVPGQAGAPGFPGERG
EKGDRGFPGTSLPGPSGRDGLPGPPGSPGPPGQPGYTNGIVECQPGPPGDQGPPGIPGQPGFIGEIGEKGQKGESCLICDIDGYRGPPGP

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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/chr13:78492226/chr13:110895081)
- 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

COL4A1

P02462

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: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a 'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen. {ECO:0000250|UniProtKB:P02463}.; FUNCTION: Arresten, comprising the C-terminal NC1 domain, inhibits angiogenesis and tumor formation. The C-terminal half is found to possess the anti-angiogenic activity. Specifically inhibits endothelial cell proliferation, migration and tube formation. {ECO:0000269|PubMed:10811134, ECO:0000269|PubMed:18775695}.

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
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17127_137161.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-1727_101161.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28127_137251.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28164_175251.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28198_218251.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-2827_101251.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17127_137161.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-1727_101161.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17102_126161.0443.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17138_163161.0443.0TransmembraneHelical%3B Name%3D2
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28102_126251.0533.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28138_163251.0533.0TransmembraneHelical%3B Name%3D2
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28176_197251.0533.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28219_243251.0533.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17102_126161.0437.0TransmembraneHelical%3B Name%3D1
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17138_163161.0437.0TransmembraneHelical%3B Name%3D2
TgeneCOL4A1chr13:78492226chr13:110895081ENST000003758200521445_166928.01670.0DomainCollagen IV NC1
TgeneCOL4A1chr13:78492226chr13:110895081ENST00000375820052173_144028.01670.0RegionNote=Triple-helical region

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17164_175161.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17198_218161.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17244_271161.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17297_324161.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17351_362161.0443.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17390_442161.0443.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28244_271251.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28297_324251.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28351_362251.0533.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28390_442251.0533.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17164_175161.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17198_218161.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17244_271161.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17297_324161.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17351_362161.0437.0Topological domainExtracellular
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17390_442161.0437.0Topological domainCytoplasmic
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17176_197161.0443.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17219_243161.0443.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17272_296161.0443.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17325_350161.0443.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78492226chr13:110895081ENST00000334286-17363_389161.0443.0TransmembraneHelical%3B Name%3D7
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28272_296251.0533.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28325_350251.0533.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78492226chr13:110895081ENST00000377211-28363_389251.0533.0TransmembraneHelical%3B Name%3D7
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17176_197161.0437.0TransmembraneHelical%3B Name%3D3
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17219_243161.0437.0TransmembraneHelical%3B Name%3D4
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17272_296161.0437.0TransmembraneHelical%3B Name%3D5
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17325_350161.0437.0TransmembraneHelical%3B Name%3D6
HgeneEDNRBchr13:78492226chr13:110895081ENST00000446573-17363_389161.0437.0TransmembraneHelical%3B Name%3D7


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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
COL4A1


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-COL4A1


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-COL4A1


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