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Fusion Protein:ACVR1C-ACVR1B |
Fusion Protein Summary |
 Fusion gene summary |
| Fusion partner gene information | Fusion gene name: ACVR1C-ACVR1B | FusionPDB ID: 1894 | FusionGDB2.0 ID: 1894 | Hgene | Tgene | Gene symbol | ACVR1C | ACVR1B | Gene ID | 130399 | 91 |
| Gene name | activin A receptor type 1C | activin A receptor type 1B | |
| Synonyms | ACVRLK7|ALK7 | ACTRIB|ACVRLK4|ALK4|SKR2 | |
| Cytomap | 2q24.1 | 12q13.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-1CACTR-ICALK-7activin A receptor, type ICactivin receptor type ICactivin receptor-like kinase 7 | activin receptor type-1Bactivin A receptor, type IBactivin A receptor, type II-like kinase 4activin receptor-like kinase 4serine/threonine-protein kinase receptor R2 | |
| Modification date | 20200313 | 20200313 | |
| UniProtAcc | Q8NER5 | P36896 | |
| Ensembl transtripts involved in fusion gene | ENST ids | ENST00000243349, ENST00000335450, ENST00000409680, ENST00000348328, | ENST00000563121, ENST00000257963, ENST00000415850, ENST00000426655, ENST00000541224, ENST00000542485, |
| Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 4 X 4 X 3=48 | 6 X 5 X 6=180 |
| # samples | 4 | 6 | |
| ** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context (manual curation of fusion genes in FusionPDB) | PubMed: ACVR1C [Title/Abstract] AND ACVR1B [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | ACVR1C(158406673)-ACVR1B(52377782), # samples:1 | ||
| Anticipated loss of major functional domain due to fusion event. | ACVR1C-ACVR1B 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. ACVR1C-ACVR1B 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. ACVR1C-ACVR1B 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. ACVR1C-ACVR1B 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 | ACVR1C | GO:0001834 | trophectodermal cell proliferation | 15150278 |
| Hgene | ACVR1C | GO:0030154 | cell differentiation | 15531507 |
| Hgene | ACVR1C | GO:0030262 | apoptotic nuclear changes | 15531507 |
| Hgene | ACVR1C | GO:0043065 | positive regulation of apoptotic process | 15150278 |
| Hgene | ACVR1C | GO:1901164 | negative regulation of trophoblast cell migration | 21356369 |
| Tgene | ACVR1B | GO:0000082 | G1/S transition of mitotic cell cycle | 11117535 |
| Tgene | ACVR1B | GO:0006355 | regulation of transcription, DNA-templated | 8622651|12665502 |
| Tgene | ACVR1B | GO:0006468 | protein phosphorylation | 12065756 |
| Tgene | ACVR1B | GO:0007165 | signal transduction | 8622651|12665502 |
| Tgene | ACVR1B | GO:0018107 | peptidyl-threonine phosphorylation | 18039968 |
| Tgene | ACVR1B | GO:0030308 | negative regulation of cell growth | 11117535 |
| Tgene | ACVR1B | GO:0032924 | activin receptor signaling pathway | 9892009 |
| Tgene | ACVR1B | GO:0032927 | positive regulation of activin receptor signaling pathway | 16720724 |
| Tgene | ACVR1B | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
| Tgene | ACVR1B | GO:0046777 | protein autophosphorylation | 18039968 |
| Tgene | ACVR1B | GO:1901165 | positive regulation of trophoblast cell migration | 21356369 |
| Fusion gene breakpoints across ACVR1C (5'-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 breakpoints across ACVR1B (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 | Non-Cancer | 203N | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + |
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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) |
| ENST00000243349 | ACVR1C | chr2 | 158406673 | - | ENST00000257963 | ACVR1B | chr12 | 52377782 | + | 4811 | 1136 | 352 | 1842 | 496 |
| ENST00000243349 | ACVR1C | chr2 | 158406673 | - | ENST00000541224 | ACVR1B | chr12 | 52377782 | + | 1950 | 1136 | 352 | 1842 | 496 |
| ENST00000243349 | ACVR1C | chr2 | 158406673 | - | ENST00000426655 | ACVR1B | chr12 | 52377782 | + | 2065 | 1136 | 352 | 1755 | 467 |
| ENST00000243349 | ACVR1C | chr2 | 158406673 | - | ENST00000415850 | ACVR1B | chr12 | 52377782 | + | 1990 | 1136 | 352 | 1788 | 478 |
| ENST00000243349 | ACVR1C | chr2 | 158406673 | - | ENST00000542485 | ACVR1B | chr12 | 52377782 | + | 2658 | 1136 | 352 | 1842 | 496 |
| ENST00000335450 | ACVR1C | chr2 | 158406673 | - | ENST00000257963 | ACVR1B | chr12 | 52377782 | + | 4293 | 618 | 74 | 1324 | 416 |
| ENST00000335450 | ACVR1C | chr2 | 158406673 | - | ENST00000541224 | ACVR1B | chr12 | 52377782 | + | 1432 | 618 | 74 | 1324 | 416 |
| ENST00000335450 | ACVR1C | chr2 | 158406673 | - | ENST00000426655 | ACVR1B | chr12 | 52377782 | + | 1547 | 618 | 74 | 1237 | 387 |
| ENST00000335450 | ACVR1C | chr2 | 158406673 | - | ENST00000415850 | ACVR1B | chr12 | 52377782 | + | 1472 | 618 | 74 | 1270 | 398 |
| ENST00000335450 | ACVR1C | chr2 | 158406673 | - | ENST00000542485 | ACVR1B | chr12 | 52377782 | + | 2140 | 618 | 74 | 1324 | 416 |
| ENST00000409680 | ACVR1C | chr2 | 158406673 | - | ENST00000257963 | ACVR1B | chr12 | 52377782 | + | 4578 | 903 | 152 | 1609 | 485 |
| ENST00000409680 | ACVR1C | chr2 | 158406673 | - | ENST00000541224 | ACVR1B | chr12 | 52377782 | + | 1717 | 903 | 152 | 1609 | 485 |
| ENST00000409680 | ACVR1C | chr2 | 158406673 | - | ENST00000426655 | ACVR1B | chr12 | 52377782 | + | 1832 | 903 | 152 | 1522 | 456 |
| ENST00000409680 | ACVR1C | chr2 | 158406673 | - | ENST00000415850 | ACVR1B | chr12 | 52377782 | + | 1757 | 903 | 152 | 1555 | 467 |
| ENST00000409680 | ACVR1C | chr2 | 158406673 | - | ENST00000542485 | ACVR1B | chr12 | 52377782 | + | 2425 | 903 | 152 | 1609 | 485 |
| 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 |
| ENST00000243349 | ENST00000257963 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.001266378 | 0.9987336 |
| ENST00000243349 | ENST00000541224 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.004636993 | 0.995363 |
| ENST00000243349 | ENST00000426655 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.003171724 | 0.99682826 |
| ENST00000243349 | ENST00000415850 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.002763582 | 0.9972364 |
| ENST00000243349 | ENST00000542485 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.004107871 | 0.99589217 |
| ENST00000335450 | ENST00000257963 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.000618014 | 0.999382 |
| ENST00000335450 | ENST00000541224 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.001609206 | 0.9983908 |
| ENST00000335450 | ENST00000426655 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.001213752 | 0.9987863 |
| ENST00000335450 | ENST00000415850 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.000580732 | 0.99941933 |
| ENST00000335450 | ENST00000542485 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.002091441 | 0.9979086 |
| ENST00000409680 | ENST00000257963 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.003903664 | 0.9960963 |
| ENST00000409680 | ENST00000541224 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.00593436 | 0.99406564 |
| ENST00000409680 | ENST00000426655 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.003827069 | 0.99617296 |
| ENST00000409680 | ENST00000415850 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.003198025 | 0.996802 |
| ENST00000409680 | ENST00000542485 | ACVR1C | chr2 | 158406673 | - | ACVR1B | chr12 | 52377782 | + | 0.006850655 | 0.99314934 |
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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 >1894_1894_1_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000243349_ACVR1B_chr12_52377782_ENST00000257963_length(amino acids)=496AA_BP=184 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTAS GSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLW LVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDI APNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNW -------------------------------------------------------------- >1894_1894_2_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000243349_ACVR1B_chr12_52377782_ENST00000415850_length(amino acids)=478AA_BP=184 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTAS GSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLW LVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDI APNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGTFLFCLCSYLPFQDAGSPKAVLLPPFFLQPVGCLLPEP -------------------------------------------------------------- >1894_1894_3_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000243349_ACVR1B_chr12_52377782_ENST00000426655_length(amino acids)=467AA_BP=184 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTAS GSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLW LVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDI APNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNW -------------------------------------------------------------- >1894_1894_4_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000243349_ACVR1B_chr12_52377782_ENST00000541224_length(amino acids)=496AA_BP=184 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTAS GSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLW LVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDI APNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNW -------------------------------------------------------------- >1894_1894_5_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000243349_ACVR1B_chr12_52377782_ENST00000542485_length(amino acids)=496AA_BP=184 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTAS GSGSGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLW LVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDI APNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNW -------------------------------------------------------------- >1894_1894_6_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000335450_ACVR1B_chr12_52377782_ENST00000257963_length(amino acids)=416AA_BP=103 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADN KDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVR HDAVTDTIDIAPNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCD -------------------------------------------------------------- >1894_1894_7_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000335450_ACVR1B_chr12_52377782_ENST00000415850_length(amino acids)=398AA_BP=103 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADN KDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVR HDAVTDTIDIAPNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGTFLFCLCSYLPFQDAGSPKAVLLPPFFL -------------------------------------------------------------- >1894_1894_8_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000335450_ACVR1B_chr12_52377782_ENST00000426655_length(amino acids)=387AA_BP=103 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADN KDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVR HDAVTDTIDIAPNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCD -------------------------------------------------------------- >1894_1894_9_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000335450_ACVR1B_chr12_52377782_ENST00000541224_length(amino acids)=416AA_BP=103 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADN KDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVR HDAVTDTIDIAPNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCD -------------------------------------------------------------- >1894_1894_10_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000335450_ACVR1B_chr12_52377782_ENST00000542485_length(amino acids)=416AA_BP=103 MVAMTRALCSALRQALLLLAAAAELSPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECC FTDFCNNITLHLPTGLPLLVQRTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADN KDNGTWTQLWLVSDYHEHGSLFDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVR HDAVTDTIDIAPNQRVGTKRYMAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCD -------------------------------------------------------------- >1894_1894_11_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000409680_ACVR1B_chr12_52377782_ENST00000257963_length(amino acids)=485AA_BP=173 MAAALGEGSELQPASPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLH LPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQ RTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSL FDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRVGTKRY MAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNWWQSYEALRVMG -------------------------------------------------------------- >1894_1894_12_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000409680_ACVR1B_chr12_52377782_ENST00000415850_length(amino acids)=467AA_BP=173 MAAALGEGSELQPASPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLH LPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQ RTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSL FDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRVGTKRY MAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGTFLFCLCSYLPFQDAGSPKAVLLPPFFLQPVGCLLPEPESSFKVAIKGV -------------------------------------------------------------- >1894_1894_13_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000409680_ACVR1B_chr12_52377782_ENST00000426655_length(amino acids)=456AA_BP=173 MAAALGEGSELQPASPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLH LPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQ RTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSL FDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRVGTKRY MAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNWWQSYEVRSWPP -------------------------------------------------------------- >1894_1894_14_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000409680_ACVR1B_chr12_52377782_ENST00000541224_length(amino acids)=485AA_BP=173 MAAALGEGSELQPASPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLH LPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQ RTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSL FDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRVGTKRY MAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNWWQSYEALRVMG -------------------------------------------------------------- >1894_1894_15_ACVR1C-ACVR1B_ACVR1C_chr2_158406673_ENST00000409680_ACVR1B_chr12_52377782_ENST00000542485_length(amino acids)=485AA_BP=173 MAAALGEGSELQPASPGLKCVCLLCDSSNFTCQTEGACWASVMLTNGKEQVIKSCVSLPELNAQVFCHSSNNVTKTECCFTDFCNNITLH LPTASPNAPKLGPMELAIIITVPVCLLSIAAMLTVWACQGRQCSYRKKKRPNVEEPLSECNLVNAGKTLKDLIYDVTASGSGSGLPLLVQ RTIARTIVLQEIVGKGRFGEVWHGRWCGEDVAVKIFSSRDERSWFREAEIYQTVMLRHENILGFIAADNKDNGTWTQLWLVSDYHEHGSL FDYLNRYTVTIEGMIKLALSAASGLAHLHMEIVGTQGKPGIAHRDLKSKNILVKKNGMCAIADLGLAVRHDAVTDTIDIAPNQRVGTKRY MAPEVLDETINMKHFDSFKCADIYALGLVYWEIARRCNSGGVHEEYQLPYYDLVPSDPSIEEMRKVVCDQKLRPNIPNWWQSYEALRVMG -------------------------------------------------------------- |
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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/chr2:158406673/chr12:52377782) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR1C | ACVR1B |
| FUNCTION: Serine/threonine protein kinase which forms a receptor complex on ligand binding. The receptor complex consisting of 2 type II and 2 type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators, SMAD2 and SMAD3. Receptor for activin AB, activin B and NODAL. Plays a role in cell differentiation, growth arrest and apoptosis. {ECO:0000269|PubMed:12063393, ECO:0000269|PubMed:15531507}. | FUNCTION: Transmembrane serine/threonine kinase activin type-1 receptor forming an activin receptor complex with activin receptor type-2 (ACVR2A or ACVR2B). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating a many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, type-2 receptors (ACVR2A and/or ACVR2B) act as a primary activin receptors whereas the type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor such as ACVR1B. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor. ACVR1B also phosphorylates TDP2. {ECO:0000269|PubMed:12364468, ECO:0000269|PubMed:12639945, ECO:0000269|PubMed:18039968, ECO:0000269|PubMed:20226172, ECO:0000269|PubMed:8196624, ECO:0000269|PubMed:9032295, ECO:0000269|PubMed:9892009}. |
| 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 | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 165_194 | 258.3333333333333 | 494.0 | Domain | GS |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 165_194 | 208.33333333333334 | 444.0 | Domain | GS |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 201_209 | 258.3333333333333 | 494.0 | Nucleotide binding | ATP |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 201_209 | 208.33333333333334 | 444.0 | Nucleotide binding | ATP |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 22_113 | 258.3333333333333 | 494.0 | Topological domain | Extracellular |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 22_113 | 178.33333333333334 | 414.0 | Topological domain | Extracellular |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 22_113 | 208.33333333333334 | 444.0 | Topological domain | Extracellular |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 114_134 | 258.3333333333333 | 494.0 | Transmembrane | Helical |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 114_134 | 178.33333333333334 | 414.0 | Transmembrane | Helical |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 114_134 | 208.33333333333334 | 444.0 | Transmembrane | Helical |
| - 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 | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 195_485 | 258.3333333333333 | 494.0 | Domain | Protein kinase |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 165_194 | 178.33333333333334 | 414.0 | Domain | GS |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 195_485 | 178.33333333333334 | 414.0 | Domain | Protein kinase |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 165_194 | 0 | 337.0 | Domain | GS |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 195_485 | 0 | 337.0 | Domain | Protein kinase |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 195_485 | 208.33333333333334 | 444.0 | Domain | Protein kinase |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 201_209 | 178.33333333333334 | 414.0 | Nucleotide binding | ATP |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 201_209 | 0 | 337.0 | Nucleotide binding | ATP |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000243349 | - | 4 | 9 | 135_493 | 258.3333333333333 | 494.0 | Topological domain | Cytoplasmic |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000335450 | - | 3 | 8 | 135_493 | 178.33333333333334 | 414.0 | Topological domain | Cytoplasmic |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 135_493 | 0 | 337.0 | Topological domain | Cytoplasmic |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 22_113 | 0 | 337.0 | Topological domain | Extracellular |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000409680 | - | 4 | 9 | 135_493 | 208.33333333333334 | 444.0 | Topological domain | Cytoplasmic |
| Hgene | ACVR1C | chr2:158406673 | chr12:52377782 | ENST00000348328 | - | 1 | 7 | 114_134 | 0 | 337.0 | Transmembrane | Helical |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 177_206 | 270.3333333333333 | 506.0 | Domain | GS | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 207_497 | 270.3333333333333 | 506.0 | Domain | Protein kinase | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 177_206 | 270.3333333333333 | 488.0 | Domain | GS | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 207_497 | 270.3333333333333 | 488.0 | Domain | Protein kinase | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 177_206 | 270.3333333333333 | 477.0 | Domain | GS | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 207_497 | 270.3333333333333 | 477.0 | Domain | Protein kinase | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 177_206 | 311.3333333333333 | 547.0 | Domain | GS | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 207_497 | 311.3333333333333 | 547.0 | Domain | Protein kinase | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 177_206 | 218.33333333333334 | 454.0 | Domain | GS | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 207_497 | 218.33333333333334 | 454.0 | Domain | Protein kinase | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 213_221 | 270.3333333333333 | 506.0 | Nucleotide binding | ATP | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 213_221 | 270.3333333333333 | 488.0 | Nucleotide binding | ATP | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 213_221 | 270.3333333333333 | 477.0 | Nucleotide binding | ATP | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 213_221 | 311.3333333333333 | 547.0 | Nucleotide binding | ATP | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 213_221 | 218.33333333333334 | 454.0 | Nucleotide binding | ATP | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 150_505 | 270.3333333333333 | 506.0 | Topological domain | Cytoplasmic | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 24_126 | 270.3333333333333 | 506.0 | Topological domain | Extracellular | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 150_505 | 270.3333333333333 | 488.0 | Topological domain | Cytoplasmic | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 24_126 | 270.3333333333333 | 488.0 | Topological domain | Extracellular | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 150_505 | 270.3333333333333 | 477.0 | Topological domain | Cytoplasmic | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 24_126 | 270.3333333333333 | 477.0 | Topological domain | Extracellular | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 150_505 | 311.3333333333333 | 547.0 | Topological domain | Cytoplasmic | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 24_126 | 311.3333333333333 | 547.0 | Topological domain | Extracellular | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 150_505 | 218.33333333333334 | 454.0 | Topological domain | Cytoplasmic | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 24_126 | 218.33333333333334 | 454.0 | Topological domain | Extracellular | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000257963 | 3 | 9 | 127_149 | 270.3333333333333 | 506.0 | Transmembrane | Helical | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000415850 | 3 | 7 | 127_149 | 270.3333333333333 | 488.0 | Transmembrane | Helical | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000426655 | 3 | 8 | 127_149 | 270.3333333333333 | 477.0 | Transmembrane | Helical | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000541224 | 4 | 10 | 127_149 | 311.3333333333333 | 547.0 | Transmembrane | Helical | |
| Tgene | ACVR1B | chr2:158406673 | chr12:52377782 | ENST00000542485 | 3 | 9 | 127_149 | 218.33333333333334 | 454.0 | Transmembrane | Helical |
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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 |
| ACVR1C | |
| ACVR1B |
| - 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 |
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Related Drugs to ACVR1C-ACVR1B |
| 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 ACVR1C-ACVR1B |
| 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 |
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