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Fusion gene ID: 660 |
FusionGeneSummary for ACVR2A_SUMO1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ACVR2A_SUMO1 | Fusion gene ID: 660 | Hgene | Tgene | Gene symbol | ACVR2A | SUMO1 | Gene ID | 92 | 7341 |
| Gene name | activin A receptor type 2A | small ubiquitin-like modifier 1 | |
| Synonyms | ACTRII|ACVR2 | DAP1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|UBL1 | |
| Cytomap | 2q22.3-q23.1 | 2q33.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | activin receptor type-2Aactivin A receptor, type IIA | small ubiquitin-related modifier 1GAP modifying protein 1SMT3 homolog 3SMT3 suppressor of mif two 3 homolog 1sentrinubiquitin-homology domain protein PIC1ubiquitin-like protein SMT3Cubiquitin-like protein UBL1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P27037 | P63165 | |
| Ensembl transtripts involved in fusion gene | ENST00000535787, ENST00000241416, ENST00000404590, ENST00000495775, | ENST00000392246, ENST00000392245, ENST00000409368, ENST00000392244, ENST00000409712, ENST00000409181, ENST00000409498, ENST00000409205, ENST00000469034, | |
| Fusion gene scores | * DoF score | 6 X 5 X 4=120 | 2 X 2 X 1=4 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: ACVR2A [Title/Abstract] AND SUMO1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | ACVR2A | GO:0030509 | BMP signaling pathway | 18436533 |
| Hgene | ACVR2A | GO:0032927 | positive regulation of activin receptor signaling pathway | 12665502 |
| Hgene | ACVR2A | GO:0045648 | positive regulation of erythrocyte differentiation | 9032295 |
| Tgene | SUMO1 | GO:0016925 | protein sumoylation | 11889051|14752048|15572661|15637059|15959518|17696781|19223394|21965678|24651376 |
| Tgene | SUMO1 | GO:0031334 | positive regulation of protein complex assembly | 18579533 |
| Tgene | SUMO1 | GO:0032436 | positive regulation of proteasomal ubiquitin-dependent protein catabolic process | 18408734 |
| Tgene | SUMO1 | GO:0034605 | cellular response to heat | 11514557 |
| Tgene | SUMO1 | GO:0043392 | negative regulation of DNA binding | 16626738 |
| Tgene | SUMO1 | GO:0045759 | negative regulation of action potential | 19223394 |
| Tgene | SUMO1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15572661 |
| Tgene | SUMO1 | GO:0050821 | protein stabilization | 21968017 |
| Tgene | SUMO1 | GO:0071276 | cellular response to cadmium ion | 11514557 |
| Tgene | SUMO1 | GO:1902260 | negative regulation of delayed rectifier potassium channel activity | 19223394 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | SARC | TCGA-FX-A2QS-01A | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000535787 | ENST00000392246 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| In-frame | ENST00000535787 | ENST00000392245 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000535787 | ENST00000409368 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000535787 | ENST00000392244 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000535787 | ENST00000409712 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000535787 | ENST00000409181 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000535787 | ENST00000409498 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000535787 | ENST00000409205 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-5UTR | ENST00000535787 | ENST00000469034 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000241416 | ENST00000392246 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| In-frame | ENST00000241416 | ENST00000392245 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000241416 | ENST00000409368 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000241416 | ENST00000392244 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000241416 | ENST00000409712 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000241416 | ENST00000409181 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000241416 | ENST00000409498 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000241416 | ENST00000409205 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-5UTR | ENST00000241416 | ENST00000469034 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000404590 | ENST00000392246 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| In-frame | ENST00000404590 | ENST00000392245 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000404590 | ENST00000409368 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000404590 | ENST00000392244 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| Frame-shift | ENST00000404590 | ENST00000409712 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000404590 | ENST00000409181 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000404590 | ENST00000409498 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-3UTR | ENST00000404590 | ENST00000409205 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| 5CDS-5UTR | ENST00000404590 | ENST00000469034 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3CDS | ENST00000495775 | ENST00000392246 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3CDS | ENST00000495775 | ENST00000392245 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3CDS | ENST00000495775 | ENST00000409368 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3CDS | ENST00000495775 | ENST00000392244 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3CDS | ENST00000495775 | ENST00000409712 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3UTR | ENST00000495775 | ENST00000409181 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3UTR | ENST00000495775 | ENST00000409498 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-3UTR | ENST00000495775 | ENST00000409205 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
| intron-5UTR | ENST00000495775 | ENST00000469034 | ACVR2A | chr2 | 148680680 | + | SUMO1 | chr2 | 203072044 | - |
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FusionProtFeatures for ACVR2A_SUMO1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ACVR2A | SUMO1 |
| On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for activin A, activin B andinhibin A. Mediates induction of adipogenesis by GDF6 (Bysimilarity). {ECO:0000250|UniProtKB:P27038,ECO:0000269|PubMed:1314589}. | Ubiquitin-like protein that can be covalently attachedto proteins as a monomer or a lysine-linked polymer. Covalentattachment via an isopeptide bond to its substrates requires prioractivation by the E1 complex SAE1-SAE2 and linkage to the E2enzyme UBE2I, and can be promoted by E3 ligases such as PIAS1-4,RANBP2 or CBX4. This post-translational modification on lysineresidues of proteins plays a crucial role in a number of cellularprocesses such as nuclear transport, DNA replication and repair,mitosis and signal transduction. Involved for instance intargeting RANGAP1 to the nuclear pore complex protein RANBP2.Covalently attached to the voltage-gated potassium channel KCNB1;this modulates the gating characteristics of KCNB1(PubMed:19223394). Polymeric SUMO1 chains are also susceptible topolyubiquitination which functions as a signal for proteasomaldegradation of modified proteins. May also regulate a network ofgenes involved in palate development. Covalently attached to ZFHX3(PubMed:24651376). {ECO:0000269|PubMed:18408734,ECO:0000269|PubMed:18538659, ECO:0000269|PubMed:19223394,ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:24651376,ECO:0000269|PubMed:9019411, ECO:0000269|PubMed:9162015}. |
| 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. |
| - In-frame and 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 |
| - In-frame and 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 |
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FusionGeneSequence for ACVR2A_SUMO1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_ACVR2A_ENST00000535787_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_320aa MCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGPPPPSPLLGLKPLQLLEVK ARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFHEKGSLSDFLKANVVSWNE LCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQVGTRRYMAPEVLEGAINFQ >In-frame_ACVR2A_ENST00000241416_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_428aa MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH EKGSLSDFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQV >In-frame_ACVR2A_ENST00000404590_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_428aa MGAAAKLAFAVFLISCSSGAILGRSETQECLFFNANWEKDRTNQTGVEPCYGDKDKRRHCFATWKNISGSIEIVKQGCWLDDINCYDRTD CVEKKDSPEVYFCCCEGNMCNEKFSYFPEMEVTQPTSNPVTPKPPYYNILLYSLVPLMLIAGIVICAFWVYRHHKMAYPPVLVPTQDPGP PPPSPLLGLKPLQLLEVKARGRFGCVWKAQLLNEYVAVKIFPIQDKQSWQNEYEVYSLPGMKHENILQFIGAEKRGTSVDVDLWLITAFH EKGSLSDFLKANVVSWNELCHIAETMARGLAYLHEDIPGLKDGHKPAISHRDIKSKNVLLKNNLTACIADFGLALKFEAGKSAGDTHGQV |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ACVR2A_ENST00000535787_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_961nt ATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAAC ATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTAC CCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAA GCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCA TGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGT GTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGGGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAA CTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATA TCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAG GCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAA AGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAAT >In-frame_ACVR2A_ENST00000241416_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_1285nt ATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAGGAGTGT CTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGT TTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGAT TGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATG GAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATT GCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCA CCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAG TTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGA ATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCAT GAAAAGGGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTG GCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTG AAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTT GGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATG GGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACA >In-frame_ACVR2A_ENST00000404590_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_1285nt ATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAGGAGTGT CTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGT TTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGAT TGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATG GAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATT GCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCA CCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAG TTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGA ATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCAT GAAAAGGGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTG GCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTG AAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTT GGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATG GGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACA |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ACVR2A_ENST00000535787_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_1974nt AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC TGGGTTGAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCTGGAAGAAT ATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAAAAAAAGAC AGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACACAGCCCACT TCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTGTCATTTGT GCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTTCTCCATTA CTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACGAATATGTG GCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATGAGAACATA TTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGGGTTCACTATCA GACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTACATGAGGAT ATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACCTGACAGCT TGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTTGGTACCCGGAGGTACATG GCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCCTATGGGAA CTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACAAACGGGGGGTCATTCAAC AGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGACAGATAAGGTGAGAGTAATGACTA ACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATCCCAGAAAAGTTCTAATTTTCATTA GCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTGTACTTTTTGGCCTGGGATATGGGT TTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATGCTTATTTTATTTTAATTGTATAGA AAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTTTTTCTTCATTACTGTACAGTGATG ATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGCCACAATACCTTTTTAATACTCAGT >In-frame_ACVR2A_ENST00000241416_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_2538nt AGGAGACCGAAAACGCGGCCGAGCCCGGAGCCCGGAGCTGGAGCCAGAGCCTGGACCAGAACTTGGCCGCCGCCTGCACCGCCGCCGCCG CTGCCGCCCGCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTC TGGGTTGAAGGTCGGTCCGGACATCGGACCCAGTCAGTTCCCAGACTGTCCGGGCGGCAGCGGACGCCGCTGCCGCCGCCGCCTCTTCGT CGCCTCAGCCTGGCGTTTTGTTCCGAGAGACGGGAGAGGCGAGCGGAGCTGACAGTGATTTTGACAGTGATTTAAACCCGCTTTTGTTGT TGTTGGCTTTTCGTTGTTTGGTTTTGTGTGTTGTGCGTGTGTGTGGCGGTTTTTCCCCCGTGGTGCATTTTATTTTTTATCGTTGTGCTC TTTTTTTTCTTTTTTTTTTTTAACCCAGTGAGCGTTTTTTTTTTTTTTTTTTTTTTTTTTTGGTCTGGGCTTCCGAATATGTTTTATGAC GGTTGATTTTACACCAGGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTC GGGAAAATGGGAGCTGCTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAG GAGTGTCTTTTCTTTAATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGG CATTGTTTTGCTACCTGGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGG ACTGATTGTGTAGAAAAAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCG GAGATGGAAGTCACACAGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATG TTAATTGCGGGGATTGTCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCA GGACCACCCCCACCTTCTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAA GCCCAGTTGCTTAACGAATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTG CCTGGAATGAAGCATGAGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCA TTTCATGAAAAGGGTTCACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGA GGATTGGCATATTTACATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTG CTGTTGAAAAACAACCTGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGA CAGGTTGGTACCCGGAGGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTAT GCCATGGGATTAGTCCTATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCA GGAACAAACGGGGGGTCATTCAACAGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGA CAGATAAGGTGAGAGTAATGACTAACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATC CCAGAAAAGTTCTAATTTTCATTAGCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTG TACTTTTTGGCCTGGGATATGGGTTTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATG CTTATTTTATTTTAATTGTATAGAAAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTT TTTCTTCATTACTGTACAGTGATGATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGC CACAATACCTTTTTAATACTCAGTGTTCTGTTTTTTTAAAAACTTGATATTCCTGTATGGTGCATATATGATACAGTTACCTAATCATGT >In-frame_ACVR2A_ENST00000404590_chr2_148680680_+_SUMO1_ENST00000392245_chr2_203072044_-_2072nt GCCGCCCCTTCCCCGCGCCGCAGCCGCCTCGCCGCCACCGCCGCGAGCTCGGCCGCCAGTGGTCCTCGGACTTTAGGTGTCTGGGTTGAA GGAGGTTTGTCTCCGAGGAAGACCCAGGGAACTGGATATCTAGCGAGAACTTCCTCCGGATTCCCCGGCGCCTCGGGAAAATGGGAGCTG CTGCAAAGTTGGCGTTTGCCGTCTTTCTTATCTCCTGTTCTTCAGGTGCTATACTTGGTAGATCAGAAACTCAGGAGTGTCTTTTCTTTA ATGCTAATTGGGAAAAAGACAGAACCAATCAAACTGGTGTTGAACCGTGTTATGGTGACAAAGATAAACGGCGGCATTGTTTTGCTACCT GGAAGAATATTTCTGGTTCCATTGAAATAGTGAAACAAGGTTGTTGGCTGGATGATATCAACTGCTATGACAGGACTGATTGTGTAGAAA AAAAAGACAGCCCTGAAGTATATTTTTGTTGCTGTGAGGGCAATATGTGTAATGAAAAGTTTTCTTATTTTCCGGAGATGGAAGTCACAC AGCCCACTTCAAATCCAGTTACACCTAAGCCACCCTATTACAACATCCTGCTCTATTCCTTGGTGCCACTTATGTTAATTGCGGGGATTG TCATTTGTGCATTTTGGGTGTACAGGCATCACAAGATGGCCTACCCTCCTGTACTTGTTCCAACTCAAGACCCAGGACCACCCCCACCTT CTCCATTACTAGGTTTGAAACCACTGCAGTTATTAGAAGTGAAAGCAAGGGGAAGATTTGGTTGTGTCTGGAAAGCCCAGTTGCTTAACG AATATGTGGCTGTCAAAATATTTCCAATACAGGACAAACAGTCATGGCAAAATGAATACGAAGTCTACAGTTTGCCTGGAATGAAGCATG AGAACATATTACAGTTCATTGGTGCAGAAAAACGAGGCACCAGTGTTGATGTGGATCTTTGGCTGATCACAGCATTTCATGAAAAGGGTT CACTATCAGACTTTCTTAAGGCTAATGTGGTCTCTTGGAATGAACTGTGTCATATTGCAGAAACCATGGCTAGAGGATTGGCATATTTAC ATGAGGATATACCTGGCCTAAAAGATGGCCACAAACCTGCCATATCTCACAGGGACATCAAAAGTAAAAATGTGCTGTTGAAAAACAACC TGACAGCTTGCATTGCTGACTTTGGGTTGGCCTTAAAATTTGAGGCTGGCAAGTCTGCAGGCGATACCCATGGACAGGTTGGTACCCGGA GGTACATGGCTCCAGAGGTATTAGAGGGTGCTATAAACTTCCAAAGGGATGCATTTTTGAGGATAGATATGTATGCCATGGGATTAGTCC TATGGGAACTGGCTTCTCGCTGTACTGCTGCAGATGCTGGGAATGGAGGAAGAAGATGTGATTGAAGTTTATCAGGAACAAACGGGGGGT CATTCAACAGTTTAGTTTTAAAATTTGAGGGTCTGGACCAAAAGAAGAGGAATATCAGGTTGAAGTCAAGATGACAGATAAGGTGAGAGT AATGACTAACTCCAAAGATGGCTTCACTGAAGAAAAGGCATTTTAAGATTTTTTAAAAATCTTGTCAGAAGATCCCAGAAAAGTTCTAAT TTTCATTAGCAATTAATAAAGCTATACATGCAGAAATGAATACAACAGAACACTGCTCTTTTTGATTTTATTTGTACTTTTTGGCCTGGG ATATGGGTTTTAAATGGACATTGTCTGTACCAGCTTCATTAAAATAAACAATATTTGTAAAAATCATACTAATGCTTATTTTATTTTAAT TGTATAGAAAGAAAAAAATGCCTAAAATAAGGTTTTCTTGCATAAATACTGGAAATTGCACATGGTACAAATTTTTTCTTCATTACTGTA CAGTGATGATGTTAATGACTTTGAAGCACTGAAAGTTACTGAAGTGCCTTCTGAATCAAGGATTTAATTAAGGCCACAATACCTTTTTAA TACTCAGTGTTCTGTTTTTTTAAAAACTTGATATTCCTGTATGGTGCATATATGATACAGTTACCTAATCATGTTGAATAAATGGGCATG |
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FusionGenePPI for ACVR2A_SUMO1 |
| 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 (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ACVR2A | SYNJ2BP, INHBA, INHA, GDF5, ENG, INHBB, BMP6, ACVR1B, BMP7, MAGI2, IGSF1, ERBB2IP, PEG10, ACVR1, GDF2, BMP10, TGFBR2, GINM1, PTGER3, HEPACAM2, LDLRAD4, DAXX, LRRIQ1, HAVCR2, MRAP2, PCDHAC1, DAAM2, C16orf58, TLR2, RNF11, TNFRSF10A | SUMO1 | FAS, C11orf65, SP100, TNFRSF1A, UBE2I, PIAS1, PIAS2, HIPK2, TDP2, TOPORS, RANGAP1, SAE1, UBA2, DAXX, PML, TP53, TP73, SUMO1, CHD3, HIPK3, TDG, TOE1, DNMT3B, RAD51, RAD52, SENP2, TOP2B, SALL1, MX1, BRCA1, CHAF1A, MITF, JUN, SMAD4, NCOR2, RPS3, TSC22D3, PAX6, TRIM5, KAT5, RWDD3, DNM1, ATXN7, USP25, RNF4, MUL1, GLP1R, NR3C1, ZBTB16, YAP1, MDM2, TP63, ETV6, NR3C2, USPL1, PIAS3, ZCCHC12, CASP2, SATB1, TRPS1, PARK7, ATXN3, PPIL3, PRDX5, SULT1A1, SSSCA1, RNF111, CASP8AP2, SIMC1, UIMC1, HNRNPK, VCP, MYB, NFE2L2, BIRC3, RANBP2, ZCCHC7, ZMYM5, ZMYM2, ZHX1, SETX, BLM, WRN, PIAS4, C18orf25, SENP1, PTGS2, ARPC1B, ARPC2, ARPC4, PRKACB, FOXM1, SENP6, ATXN1, ATF2, PHC1, HNRNPC, SOX2, TFCP2, HGS, TRAF4, ZBTB6, RAD54L2, RAD54B, ZBTB26, CARD9, GMCL1, FAM118B, RHOXF2, FBF1, MAPK1IP1L, DTX2, EDARADD, CCDC67, SUMO1P1, CUL7, OBSL1, ZNF451, BUB1B, NR1H4, PKM, UBC, PARK2, MTOR, ZMYM3, PFDN2, PSMD2, PABPC1, KLF5, IFI16, EWSR1, IKZF3, KPNB1, NUP153, NUP107, SEH1L, SLX4, CDC5L, CREBBP, PCNA, FOXA1, PSIP1, HSF1, RNF168 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ACVR2A_SUMO1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ACVR2A_SUMO1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ACVR2A | C0920269 | Microsatellite Instability | 1 | CTD_human |
| Tgene | SUMO1 | C0008924 | Cleft Lip | 1 | CTD_human |
| Tgene | SUMO1 | C0008925 | Cleft Palate | 1 | CTD_human |
| Tgene | SUMO1 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
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