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Fusion Protein:EDNRB-COL4A1 |
Fusion Protein Summary |
Fusion gene summary |
Fusion partner gene information | Fusion gene name: EDNRB-COL4A1 | FusionPDB ID: 24990 | FusionGDB2.0 ID: 24990 | Hgene | Tgene | Gene symbol | EDNRB | COL4A1 | Gene ID | 1910 | 1282 |
Gene name | endothelin receptor type B | collagen type IV alpha 1 chain | |
Synonyms | ABCDS|ET-B|ET-BR|ETB|ETB1|ETBR|ETRB|HSCR|HSCR2|WS4A | BSVD|BSVD1|PADMAL|RATOR | |
Cytomap | 13q22.3 | 13q34 | |
Type of gene | protein-coding | protein-coding | |
Description | endothelin receptor type BHirschsprung disease 2endothelin receptor non-selective typeendothelin receptor subtype B1 | collagen alpha-1(IV) chainCOL4A1 NC1 domainarrestencollagen IV, alpha-1 polypeptidecollagen of basement membrane, alpha-1 chain | |
Modification date | 20200315 | 20200313 | |
UniProtAcc | P24530 | P02462 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000334286, ENST00000377211, ENST00000446573, ENST00000475537, | ENST00000467182, ENST00000375820, ENST00000543140, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 4 X 3=48 | 14 X 14 X 7=1372 |
# samples | 4 | 16 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | EDNRB | GO:0086100 | endothelin receptor signaling pathway | 1713452 |
Fusion 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. |
Fusion 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. |
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Fusion Gene Sample Information |
Fusion gene information from FusionGDB2.0. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | KIRC | TCGA-A3-A8OW-01A | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - |
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Fusion ORF Analysis |
Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000446573 | EDNRB | chr13 | 78492226 | - | ENST00000375820 | COL4A1 | chr13 | 110895081 | - | 7059 | 741 | 210 | 5666 | 1818 |
ENST00000446573 | EDNRB | chr13 | 78492226 | - | ENST00000543140 | COL4A1 | chr13 | 110895081 | - | 3100 | 741 | 210 | 2216 | 668 |
ENST00000377211 | EDNRB | chr13 | 78492226 | - | ENST00000375820 | COL4A1 | chr13 | 110895081 | - | 7224 | 906 | 153 | 5831 | 1892 |
ENST00000377211 | EDNRB | chr13 | 78492226 | - | ENST00000543140 | COL4A1 | chr13 | 110895081 | - | 3265 | 906 | 153 | 2381 | 742 |
ENST00000334286 | EDNRB | chr13 | 78492226 | - | ENST00000375820 | COL4A1 | chr13 | 110895081 | - | 7038 | 720 | 189 | 5645 | 1818 |
ENST00000334286 | EDNRB | chr13 | 78492226 | - | ENST00000543140 | COL4A1 | chr13 | 110895081 | - | 3079 | 720 | 189 | 2195 | 668 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000446573 | ENST00000375820 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.001004492 | 0.9989955 |
ENST00000446573 | ENST00000543140 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.002910468 | 0.99708956 |
ENST00000377211 | ENST00000375820 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.001027521 | 0.99897254 |
ENST00000377211 | ENST00000543140 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.013725954 | 0.98627406 |
ENST00000334286 | ENST00000375820 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.000970364 | 0.99902964 |
ENST00000334286 | ENST00000543140 | EDNRB | chr13 | 78492226 | - | COL4A1 | chr13 | 110895081 | - | 0.002845666 | 0.99715436 |
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Fusion Amino Acid Sequences |
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 -------------------------------------------------------------- >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 -------------------------------------------------------------- >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 -------------------------------------------------------------- >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 -------------------------------------------------------------- >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 -------------------------------------------------------------- >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 |
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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
EDNRB | COL4A1 |
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}. |
Retention 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 * Minus value of BPloci means that the break pointn is located before the CDS. |
- Retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 127_137 | 161.0 | 443.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 27_101 | 161.0 | 443.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 127_137 | 251.0 | 533.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 164_175 | 251.0 | 533.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 198_218 | 251.0 | 533.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 27_101 | 251.0 | 533.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 127_137 | 161.0 | 437.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 27_101 | 161.0 | 437.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 102_126 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 138_163 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 102_126 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 138_163 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 176_197 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 219_243 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 102_126 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 138_163 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D2 |
Tgene | COL4A1 | chr13:78492226 | chr13:110895081 | ENST00000375820 | 0 | 52 | 1445_1669 | 28.0 | 1670.0 | Domain | Collagen IV NC1 | |
Tgene | COL4A1 | chr13:78492226 | chr13:110895081 | ENST00000375820 | 0 | 52 | 173_1440 | 28.0 | 1670.0 | Region | Note=Triple-helical region |
- Not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 164_175 | 161.0 | 443.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 198_218 | 161.0 | 443.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 244_271 | 161.0 | 443.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 297_324 | 161.0 | 443.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 351_362 | 161.0 | 443.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 390_442 | 161.0 | 443.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 244_271 | 251.0 | 533.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 297_324 | 251.0 | 533.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 351_362 | 251.0 | 533.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 390_442 | 251.0 | 533.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 164_175 | 161.0 | 437.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 198_218 | 161.0 | 437.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 244_271 | 161.0 | 437.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 297_324 | 161.0 | 437.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 351_362 | 161.0 | 437.0 | Topological domain | Extracellular |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 390_442 | 161.0 | 437.0 | Topological domain | Cytoplasmic |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 176_197 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 219_243 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 272_296 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 325_350 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D6 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000334286 | - | 1 | 7 | 363_389 | 161.0 | 443.0 | Transmembrane | Helical%3B Name%3D7 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 272_296 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 325_350 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D6 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000377211 | - | 2 | 8 | 363_389 | 251.0 | 533.0 | Transmembrane | Helical%3B Name%3D7 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 176_197 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 219_243 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 272_296 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 325_350 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D6 |
Hgene | EDNRB | chr13:78492226 | chr13:110895081 | ENST00000446573 | - | 1 | 7 | 363_389 | 161.0 | 437.0 | Transmembrane | Helical%3B Name%3D7 |
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Fusion Protein-Protein Interaction |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160) |
Gene | PPI interactors |
Protein-protein interactors based on sequence similarity (STRING) |
Gene | STRING network |
EDNRB | |
COL4A1 |
- Retained interactions in fusion protein (protein functional feature from UniProt). |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost interactions due to fusion (protein functional feature from UniProt). |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs to EDNRB-COL4A1 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to EDNRB-COL4A1 |
Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |