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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:COL2A1-ZNF609 (FusionGDB2 ID:HG1280TG23060) |
Fusion Gene Summary for COL2A1-ZNF609 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL2A1-ZNF609 | Fusion gene ID: hg1280tg23060 | Hgene | Tgene | Gene symbol | COL2A1 | ZNF609 | Gene ID | 1280 | 23060 |
| Gene name | collagen type II alpha 1 chain | zinc finger protein 609 | |
| Synonyms | ANFH|AOM|COL11A3|SEDC|STL1 | - | |
| Cytomap | ('COL2A1')('ZNF609') 12q13.11 | 15q22.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1 | zinc finger protein 609 | |
| Modification date | 20200328 | 20200313 | |
| UniProtAcc | P02458 | . | |
| Ensembl transtripts involved in fusion gene | ENST00000337299, ENST00000380518, ENST00000493991, | ||
| Fusion gene scores | * DoF score | 5 X 6 X 2=60 | 12 X 15 X 3=540 |
| # samples | 6 | 17 | |
| ** MAII score | log2(6/60*10)=0 | log2(17/540*10)=-1.66742466091313 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL2A1 [Title/Abstract] AND ZNF609 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | COL2A1(48398020)-ZNF609(64915026), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | COL2A1-ZNF609 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. COL2A1-ZNF609 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. COL2A1-ZNF609 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. COL2A1-ZNF609 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 |
| Tgene | ZNF609 | GO:2000291 | regulation of myoblast proliferation | 28344082 |
| Fusion gene breakpoints across COL2A1 (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 ZNF609 (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 information * 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 | PRAD | TCGA-EJ-5503-01A | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
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Fusion Gene ORF analysis for COL2A1-ZNF609 |
| 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 |
| 5CDS-intron | ENST00000337299 | ENST00000416172 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| 5CDS-intron | ENST00000337299 | ENST00000559364 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| 5CDS-intron | ENST00000380518 | ENST00000416172 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| 5CDS-intron | ENST00000380518 | ENST00000559364 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| In-frame | ENST00000337299 | ENST00000326648 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| In-frame | ENST00000380518 | ENST00000326648 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| intron-3CDS | ENST00000493991 | ENST00000326648 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| intron-intron | ENST00000493991 | ENST00000416172 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| intron-intron | ENST00000493991 | ENST00000559364 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| ENST00000380518 | COL2A1 | chr12 | 48398020 | - | ENST00000326648 | ZNF609 | chr15 | 64915026 | + | 8118 | 250 | 220 | 3738 | 1172 |
| ENST00000337299 | COL2A1 | chr12 | 48398020 | - | ENST00000326648 | ZNF609 | chr15 | 64915026 | + | 7953 | 85 | 55 | 3573 | 1172 |
| 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 |
| ENST00000380518 | ENST00000326648 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + | 0.001408927 | 0.998591 |
| ENST00000337299 | ENST00000326648 | COL2A1 | chr12 | 48398020 | - | ZNF609 | chr15 | 64915026 | + | 0.001164637 | 0.9988354 |
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Fusion Genomic Features for COL2A1-ZNF609 |
| FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| COL2A1 | chr12 | 48398019 | - | ZNF609 | chr15 | 64915025 | + | 0.002376868 | 0.99762315 |
| COL2A1 | chr12 | 48398019 | - | ZNF609 | chr15 | 64915025 | + | 0.002376868 | 0.99762315 |
| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
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| Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for COL2A1-ZNF609 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:48398020/chr15:64915026) - 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 |
| COL2A1 | . |
| FUNCTION: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
| 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 |
| Tgene | ZNF609 | chr12:48398020 | chr15:64915026 | ENST00000326648 | 0 | 9 | 1333_1336 | 249 | 2578.3333333333335 | Compositional bias | Note=Poly-Gly | |
| Tgene | ZNF609 | chr12:48398020 | chr15:64915026 | ENST00000326648 | 0 | 9 | 1366_1371 | 249 | 2578.3333333333335 | Compositional bias | Note=Poly-His | |
| Tgene | ZNF609 | chr12:48398020 | chr15:64915026 | ENST00000326648 | 0 | 9 | 725_735 | 249 | 2578.3333333333335 | Compositional bias | Note=Poly-Lys | |
| Tgene | ZNF609 | chr12:48398020 | chr15:64915026 | ENST00000326648 | 0 | 9 | 952_955 | 249 | 2578.3333333333335 | Compositional bias | Note=Poly-Ser | |
| Tgene | ZNF609 | chr12:48398020 | chr15:64915026 | ENST00000326648 | 0 | 9 | 495_520 | 249 | 2578.3333333333335 | Zinc finger | C2H2-type |
| - 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 |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000337299 | - | 1 | 53 | 1253_1487 | 28 | 1419.0 | Domain | Fibrillar collagen NC1 |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000337299 | - | 1 | 53 | 32_90 | 28 | 1419.0 | Domain | VWFC |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000380518 | - | 1 | 54 | 1253_1487 | 28 | 1488.0 | Domain | Fibrillar collagen NC1 |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000380518 | - | 1 | 54 | 32_90 | 28 | 1488.0 | Domain | VWFC |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000337299 | - | 1 | 53 | 1215_1241 | 28 | 1419.0 | Region | Note=Nonhelical region (C-terminal) |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000337299 | - | 1 | 53 | 201_1214 | 28 | 1419.0 | Region | Note=Triple-helical region |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000380518 | - | 1 | 54 | 1215_1241 | 28 | 1488.0 | Region | Note=Nonhelical region (C-terminal) |
| Hgene | COL2A1 | chr12:48398020 | chr15:64915026 | ENST00000380518 | - | 1 | 54 | 201_1214 | 28 | 1488.0 | Region | Note=Triple-helical region |
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Fusion Gene Sequence for COL2A1-ZNF609 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
| >18282_18282_1_COL2A1-ZNF609_COL2A1_chr12_48398020_ENST00000337299_ZNF609_chr15_64915026_ENST00000326648_length(transcript)=7953nt_BP=85nt ATGATTCGCCTCGGGGCTCCCCAGACGCTGGTGCTGCTGACGCTGCTCGTCGCCGCTGTCCTTCGGTGTCAGGGCCAGGATGTCCATGGA GTCCCCTGTTTCCACACCAGCAGTGCTGCCAATACACCTTTTGGTGCCAGTGGTCAACAATGACATCTCATCTCCCTGTGAGCAGATCAT GGTTCGTACCCGATCAGTTGGGGTCAACACATGTGATGTGGCTCTGGCCACAGAGCCTGAGTGCTTGGGCCCCTGTGAACCTGGAACTAG CGTCAACCTTGAAGGCATCGTGTGGCAGGAAACAGAAGATGGGATGTTGGTGGTAAATGTAACGTGGAGGAACAAGACATATGTAGGTAC ACTCCTTGACTGCACACGACATGATTGGGCACCCCCAAGGTTCTGTGACTCCCCGACCAGTGACCTGGAAATGCGCAATGGCCGGGGTAG AGGCAAACGCATGCGTCCCAACAGTAATACACCTGTCAATGAGACAGCCACAGCCTCTGACAGCAAAGGGACCAGTAACAGCAGCAAAAC CCGGGCAGGAGCCAATAGCAAAGGCCGTCGGGGCAGCCAGAATTCTTCAGAGCACCGCCCACCTGCCAGCAGCACTTCTGAGGATGTCAA GGCCAGCCCTTCCTCAGCTAATAAGCGGAAAAACAAACCCCTTTCAGACATGGAGCTGAATTCTAGCTCAGAGGACTCCAAAGGGAGCAA GCGTGTCCGTACTAATTCCATGGGCTCAGCCACTGGCCCCCTTCCTGGGACAAAGGTAGAACCCACTGTTCTGGACAGAAACTGCCCCTC CCCCGTCCTAATTGACTGTCCCCACCCAAACTGCAACAAGAAGTACAAGCACATCAATGGACTTAAGTACCACCAAGCTCATGCCCATAC AGATGATGACAGCAAGCCGGAAGCGGATGGGGACAGTGAGTACGGAGAGGAACCTATTCTCCATGCAGATCTTGGGAGCTGCAACGGTGC ATCTGTCTCACAAAAAGGTTCCTTGTCCCCTGCCCGCTCAGCTACCCCCAAAGTTCGACTTGTAGAGCCCCATAGCCCTTCTCCTTCAAG CAAATTCAGCACAAAAGGCCTCTGTAAGAAAAAGTTGAGTGGGGAAGGGGACACAGACCTTGGGGCCTTATCCAATGATGGCTCTGATGA TGGACCCTCAGTGATGGATGAAACAAGCAATGATGCCTTTGATTCTTTAGAAAGGAAGTGTATGGAAAAAGAAAAATGTAAAAAACCCTC TAGTTTAAAACCTGAAAAGATTCCTTCCAAGAGCCTAAAGTCAGCCCGTCCCATTGCCCCTGCCATCCCCCCACAGCAAATCTACACCTT CCAGACAGCCACCTTCACAGCAGCGAGCCCAGGCTCTTCCTCAGGCTTGACCGCCACAGTGGCACAAGCCATGCCCAACAGTCCCCAACT CAAGCCCATTCAGCCCAAGCCCACTGTTATGGGAGAACCTTTCACAGTCAACCCTGCCTTGACTCCAGCCAAGGACAAGAAAAAGAAAGA CAAAAAAAAGAAGGAATCTTCAAAGGAACTTGAAAGTCCTCTGACCCCTGGGAAGGTGTGTCGAGCAGAGGAAGGCAAAAGCCCATTCAG GGAATCTTCAGGAGATGGGATGAAAATGGAGGGGCTCCTAAATGGCTCATCAGACCCCCACCAAAGCCGACTGGCTAGCATCAAGGCTGA AGCCGACAAGATCTACAGTTTCACGGACAATGCCCCCAGCCCTTCCATTGGAGGCAGTAGCCGCCTTGAAAACACTACCCCTACTCAGCC CCTGACTCCCTTACATGTGGTGACCCAGAATGGAGCTGAAGCCAGCTCAGTCAAAACCAACAGCCCTGCATACTCTGACATCTCTGATGC TGGGGAGGATGGGGAGGGCAAGGTAGACAGTGTCAAATCAAAGGACGCCGAACAGTTGGTTAAAGAAGGGGCTAAGAAAACTCTTTTTCC CCCTCAGCCTCAGAGCAAAGACTCACCATATTACCAAGGCTTTGAGAGTTACTATTCTCCAAGTTATGCACAGTCCAGCCCTGGGGCTCT GAACCCCAGCAGCCAGGCAGGAGTGGAGAGCCAGGCCCTGAAGACAAAAAGGGATGAGGAACCTGAGAGCATAGAAGGGAAAGTGAAGAA CGATATCTGTGAAGAAAAGAAGCCCGAGCTGAGCAGTTCCAGTCAGCAGCCCTCGGTCATCCAGCAGCGTCCCAATATGTACATGCAGTC CCTGTACTACAACCAGTATGCCTATGTACCCCCCTATGGCTACAGCGACCAGAGTTACCACACCCACCTTCTGAGCACTAACACGGCTTA CCGGCAGCAGTACGAAGAACAGCAGAAACGCCAGAGCTTAGAGCAGCAGCAGCGGGGAGTGGACAAGAAGGCAGAGATGGGCCTGAAGGA GCGGGAGGCAGCACTCAAGGAAGAGTGGAAGCAAAAGCCGTCAATTCCACCAACTCTCACCAAGGCCCCCAGCCTGACAGACCTGGTGAA ATCAGGACCTGGCAAGGCCAAGGAGCCAGGGGCTGACCCAGCCAAATCAGTCATCATTCCCAAGTTAGATGACTCTTCAAAACTCCCGGG CCAGGCCCCTGAAGGCCTTAAAGTGAAGCTGAGTGATGCCAGCCACCTAAGCAAGGAGGCCTCTGAGGCCAAGACAGGTGCTGAGTGTGG TCGACAGGCAGAGATGGATCCAATACTCTGGTACCGACAGGAGGCAGAGCCCCGGATGTGGACATATGTTTATCCTGCCAAGTACTCAGA CATCAAGTCAGAGGATGAGCGGTGGAAGGAGGAGCGGGACCGCAAATTGAAGGAGGAAAGGAGTCGGAGTAAGGACTCTGTCCCCAAGGA AGATGGGAAGGAAAGCACAAGTAGTGACTGCAAGCTGCCCACGTCAGAGGAGTCTCGCCTTGGGAGCAAGGAGCCCCGGCCAAGTGTCCA TGTGCCTGTGTCCTCCCCACTTACCCAGCACCAGTCCTACATCCCCTACATGCACGGCTATTCCTACAGTCAGTCCTACGACCCCAACCA CCCCAGCTACCGGAGCATGCCTGCTGTGATGATGCAGAACTACCCAGGTTCCTACCTGCCTTCCAGCTACTCTTTTTCCCCATATGGCAG CAAGGTCTCAGGTGGTGAAGATGCTGACAAGGCACGAGCCAGCCCCAGTGTGACTTGTAAATCCAGCTCAGAGTCCAAAGCCCTGGACAT CTTGCAGCAGCATGCCAGTCACTACAAGAGCAAGTCTCCCACGATAAGTGATAAAACTTCTCAGGAGAGAGATCGAGGAGGCTGTGGGGT GGTTGGGGGTGGTGGCAGCTGTAGCAGCGTCGGGGGAGCAAGTGGGGGTGAACGGAGTGTTGACCGGCCCCGCACCTCTCCTTCCCAGCG CCTGATGTCCACACACCACCACCACCACCACTTGGGGTACTCATTGCTCCCAGCACAGTACAACTTACCCTATGCAGCAGGGCTTTCTTC TACAGCCATTGTTGCCAGCCAACAAGGCTCAACTCCCTCACTCTACCCACCCCCCAGGAGGTGAGAATGACACCAAGTGCCCGGATAAAG TCAGCTTCACGGGCCCGGACTGGCTTACCCAAGGAGGTGCTGAAGGTGCCGTTTAGACATCAGTTAAATGGTGTTGATCATCCTGTTTGC CGTTTCCACCATGACTGAAGGCAGACCCTTGGCTATCTCACCTCCACCAGACCTCCGGACTACCTGACCCTACCTCTTCCTCAGGAGCTG GAGAGCTGGTACTTAGCAAAAATATTTATTCTCTCAGCCACAGTTATGACTATTGTGGCCTCTGTGGAGATGAAGGCACGGGAAGCAACC AGGGGAACATGGCCTCAGCCCAGAGAAGCCACTGCTCTGTTCCCCAAGCCCTTGGTCTGCTGCTGGAGCAGTACCAGCCCCCCCGCCCAC CAGGGAGGGACCCCCACCCCCAAGCACTGGGTAAGGTCTGAAGACAGCACAGCAGCCATACCCCTCACCATCATTACCACCATCACCAGA TTCTGCATCTCCCTAGTGCTTTGCACCCTGGGAATTGGCAGCATGTGGAGGAACTAGAATCTCAGGAAAGAAATTGGGGGTTGTTTTCTA CATAATTGTGAAAACAAGGTCTTCAAATGTGGAGACTTCTCCCCATTTACATGAGCACATATAAACGCTCACAACCTAGCCTGGAAAGGA AGACCAAGGCATCTGCCCCAACATGGCCTTGAGCTGCCTGTGAGGCAGGGGGCAGGGGTTCCAACACCAGCACAGGGCTCCCCAGGGACA CTGGGAGCAAGCTGGTGCTGGAGCATGAATGACGTCTGTGAAGTAGAACCTGCGTCCCCACTAAGTCCTGCTGCTTCTTATTCCCCAACT CCTTGCCCTTTTCCCTTCCCTCCTAACCCCTTGGTGCCTTTCCCAGGGGGATCCCCACACTGGTCTTGCCTCTTCTTTTCCACTGCTTGG CTCTTAAGCCTCAGGCAGATAAACTAGTATTCCCCCCAGCTTGGGGAACCTTGGAGTCTGCCAGGTCACCTTAGGGCAAGGCCCAGAAGG CAGCCCCTGGGAGCACCCAGCAGTTCTTGGAGATGTCCTGTCATCTAGCCATCTGATATCTTCCTCATTTGAGGCCACAGATATATACAG CCCAATTCCTCTGTCTACAAGTACATGATTTTATATAGCTCAGTCTATAACCTCCATGTGGGCCAATATAAGCTGTGTTTCTTGGTAACA CATATTTTGTTTGAGGGGCCACTGGCCATGGGAGGTTATTTGTTCCTTAGACCCTGGAATAACACATCCAAGCCATTACTTATTAGAGTC TCAGAATGTACTCAGTGGAGCTGTGCTTTGAGGCAGCCAACATTTCTCTGCTCTCCTTAGAAATGCAGTCTCCCAATGGAAGCTTTATAC TCTTTGTACTGGGAAAGTGAGGATGATTTGGTAGCTTTATTGGGGTCATGTCTTCCCCAAGGTGTGGGGAGCTTAGCTTACTTGGCTTTT GAGGTATCATCCCTCTGTTCTCCCCTCCTATCTTTCCATGACCCTCTGGATTGAGAGAGAGAGATAAAGACTGACAGACACCAGTGTAGG CTGGAAAAGGGAGTGTGTGACCAGAGTGCCAAAAGTGACTAGGAGCAGGAACTTGGCTCCGACTCAGTTTGGAAAATGGGAAATAGGGGA CAGTAAGCACAATGCCCAGTAGTAGTTGATTTCCAAGGACCCTGGAACCCTACACTTGAGAGGCTTAGGGTCACCATCTGCTCAAGAGGA TCCCCTCTGATCTACAGGCCTTTTCCCTAGGTTTCTGCCTCCTCGTTTTTGTTCAAGTTGGGTTCTGAGTCCTCCCCAAAAACCATTGTT TTAGACCTCTTGGCAGGGCCCCAAAACAGCCTCCCTCATACCCATCATTCCCTCTGCCTTCTGCTGCCCTCATGGGCAGTGCTCTGAGCA GTGACCTCCCTTTCCTCCGTGGAAGTAGCTAGTGCAGACACCGTCATCCCACCCCACCTGAGTCACCCCAACCAAGAGGGTGACTGAATT TCAGCCTGATTATGCCCTCCTGGGGCTCCTGTGAGGTGGAGCCAAGGTTCCCTCTCTGTTCCTGTTTGTTTTTAAATATTGTTGTGTGTT TTGTATCTGTGGCACTGGCCTGCAGCATACTCTGTATATATTGTAAAGAAACCGTTAGGAGTAATTTTCTTTTGCATTGGGCAGGCATGG CCCTGCATTCCTGCCCTTTCCACTCATTCTGTAACACAGAGGACGAACTTCTGTATTAGCTGGGCAGCCTTGGGTTCTCCAGAAGAGAAC AGGTTTTTCTTTTCCTTTTTAATTTTTCTTCTTAAACATTTGGCTCTTTGATCCTCATATCCAAGTCTCCCCTGAAGAGTAGGAGCTGCT CAGAAGAGCAGGTGAAAGCCACCATGGCAGATCCTGATGCCTGCCGGGCCTAGTCTTCCCTCTGAAATAACATGAAGCAGCAGCTGTGGA GATTCTTGACAAGTGCTGAGTGAAAGATTTGCTGCCCACCTCTACATGGGGAGGAGAAACACAGGTGGGAGCTACCTGTGGCATCCATGA CCTAGTCAGAGGGATGAGATGCTCAGCAGGGGTCCCCATCCTATCCCACCCCACAAACAAAGGCTGGAAAAATTTGCTACCAAGGGCCAA GACCACCAGACCAAGCCTGTTTATGAGCCACCCCTGCCCAGGCCCTCACAGACATTGCTCACGGGGCTTCCCATAGAGGAGAAGCTAAAG AGGGAGGGGGCCTCATCCCCAGATAGATCAGGCAAGGCTTGGAGAGCTGCTCTTTAGGATCCACATCAACTACTTCCTCATTTTAAGGTA TGGCAGTTCCCTTCATCCCCTTTTCCTGCCTTGTACATGTACATGTATGAAATTTCCTTCTCTTACCGAACTCTCTCCACACATCACAAG GTCAAAGAACCACACGCTTAGAAGGGTAAGAGGGCACCCTATGAAATGAAATGGTGATTTCTTGAGTCTCTTTTTTCCACGTTTAAGGGG CCATGGCAGGACTTAGAGTTGCGAGTTAAGACTGCAGAGGGCTAGAGAATTATTTCATACAGGCTTTGAGGCCACCCATGTCACTTATCC CGTATACCCTCTCACCATCCCCTTGTCTACTCTGATGCCCCCAAGATGCAACTGGGCAGCTAGTTGGCCCCATAATTCTGGGCCTTTGTT GTTTGTTTTAATTACTTGGGCATCCCAGGAAGCTTTCCAGTGATCTCCTACCATGGGCCCCCCTCCTGGGATCAAGCCCCTCCCAGGCCC TGTCCCCAGCCCCTCCTGCCCCAGCCCACCCGCTTGCCTTGGTGCTCAGCCCTCCCATTGGGAGCAGGTTGGGGCGAGCTGGAGGCCCGG GCTGGAGGGGCAGTGTTGCTGTTCATAGATTTTGTTCCATTGGCGTTGCTCTGTTGAATTTAATTTCAGTCTTCCTGATTCTTCCCTTCT GTAAAGTGTACATTACCAAGTTCCTTGTTTTTTTATATATATATATAAATATATATATATACAAACTGTACTCTTTTTGCCTTTGTACAT TCAGGCAAGAAGAGAAAATAAATCTTTTTAAGAGACAATCACAAATCTGTGAGGGCTGCTGGTTATTTCTCCTGGAGTTTGCTGCTGAGC TGCCTCTTCCTTCCTCCCAATTTTCCTGTTCTCCCTCAGCTCTCCTGATCTTCCTGGCCCTGCTCCATATGCATCCTCAGCTTCACTTTC CCTGGCTGATGGCAAGCTGTTGAATCCAGTGTCCAGACTACCTGCCTTGTAACCCTTTTCTGCCCAGCATTGTTTTCTGGCTTGGCCACT GGCTTAGCCCAGGAGCTTTACTCTGTGCCCTGGCCTCCCCTCTCTTCACCTTTAGATTTCCATTCACCGAAGTGGCTTTGGACCCCTGGG TACTCTGGGACCTGTTTCCTGGAGGCCCTGGCTTGGGACACTCACCTGTGAAACTATGCAGCTGGGAGCTCTCTGCCTAAGAGTTTGCAC TATTTAAACCTGCCTGGGAGTTAGGACGGATGGTTTTAGGAATGACCGGAAAACTACCCCTAAAACTCCCCCGACATTCCAGCCTCTAGA ATGCTCTGATCCAGAGCTCAGTGGATGATTCCCAGCTGGTGGACTCCTGTGGCTACCCCATCAGAACAAGGGCTAAGGGTTTATGGGTCA AGAGTATTTGATCAGAATTTTAAAGGGTGGTATACTCTGAAACACAGCCCAACCAAACCATTGTTTGGCCGCTTTCTCTTTTCCTCTACC TTCCTCATCCCCACTTTTTTCCCTTTCTCTCTACTTCCTCTTCTTAATTGGCTTTGGAATTGAAATATATTTTTAAATTATTTGTTGTAT >18282_18282_1_COL2A1-ZNF609_COL2A1_chr12_48398020_ENST00000337299_ZNF609_chr15_64915026_ENST00000326648_length(amino acids)=1172AA_BP=10 MSFGVRARMSMESPVSTPAVLPIHLLVPVVNNDISSPCEQIMVRTRSVGVNTCDVALATEPECLGPCEPGTSVNLEGIVWQETEDGMLVV NVTWRNKTYVGTLLDCTRHDWAPPRFCDSPTSDLEMRNGRGRGKRMRPNSNTPVNETATASDSKGTSNSSKTRAGANSKGRRGSQNSSEH RPPASSTSEDVKASPSSANKRKNKPLSDMELNSSSEDSKGSKRVRTNSMGSATGPLPGTKVEPTVLDRNCPSPVLIDCPHPNCNKKYKHI NGLKYHQAHAHTDDDSKPEADGDSEYGEEPILHADLGSCNGASVSQKGSLSPARSATPKVRLVEPHSPSPSSKFSTKGLCKKKLSGEGDT DLGALSNDGSDDGPSVMDETSNDAFDSLERKCMEKEKCKKPSSLKPEKIPSKSLKSARPIAPAIPPQQIYTFQTATFTAASPGSSSGLTA TVAQAMPNSPQLKPIQPKPTVMGEPFTVNPALTPAKDKKKKDKKKKESSKELESPLTPGKVCRAEEGKSPFRESSGDGMKMEGLLNGSSD PHQSRLASIKAEADKIYSFTDNAPSPSIGGSSRLENTTPTQPLTPLHVVTQNGAEASSVKTNSPAYSDISDAGEDGEGKVDSVKSKDAEQ LVKEGAKKTLFPPQPQSKDSPYYQGFESYYSPSYAQSSPGALNPSSQAGVESQALKTKRDEEPESIEGKVKNDICEEKKPELSSSSQQPS VIQQRPNMYMQSLYYNQYAYVPPYGYSDQSYHTHLLSTNTAYRQQYEEQQKRQSLEQQQRGVDKKAEMGLKEREAALKEEWKQKPSIPPT LTKAPSLTDLVKSGPGKAKEPGADPAKSVIIPKLDDSSKLPGQAPEGLKVKLSDASHLSKEASEAKTGAECGRQAEMDPILWYRQEAEPR MWTYVYPAKYSDIKSEDERWKEERDRKLKEERSRSKDSVPKEDGKESTSSDCKLPTSEESRLGSKEPRPSVHVPVSSPLTQHQSYIPYMH GYSYSQSYDPNHPSYRSMPAVMMQNYPGSYLPSSYSFSPYGSKVSGGEDADKARASPSVTCKSSSESKALDILQQHASHYKSKSPTISDK TSQERDRGGCGVVGGGGSCSSVGGASGGERSVDRPRTSPSQRLMSTHHHHHHLGYSLLPAQYNLPYAAGLSSTAIVASQQGSTPSLYPPP -------------------------------------------------------------- >18282_18282_2_COL2A1-ZNF609_COL2A1_chr12_48398020_ENST00000380518_ZNF609_chr15_64915026_ENST00000326648_length(transcript)=8118nt_BP=250nt GGGAGAAGACGCAGAGCGCTGCTGGGCTGCCGGGTCTCCCGCTTCCCCCTCCTGCTCCAAGGGCCTCCTGCATGAGGGCGCGGTAGAGAC CCGGACCCGCGCCGTGCTCCTGCCGTTTCGCTGCGCTCCGCCCGGGCCCGGCTCAGCCAGGCCCCGCGGTGAGCCATGATTCGCCTCGGG GCTCCCCAGACGCTGGTGCTGCTGACGCTGCTCGTCGCCGCTGTCCTTCGGTGTCAGGGCCAGGATGTCCATGGAGTCCCCTGTTTCCAC ACCAGCAGTGCTGCCAATACACCTTTTGGTGCCAGTGGTCAACAATGACATCTCATCTCCCTGTGAGCAGATCATGGTTCGTACCCGATC AGTTGGGGTCAACACATGTGATGTGGCTCTGGCCACAGAGCCTGAGTGCTTGGGCCCCTGTGAACCTGGAACTAGCGTCAACCTTGAAGG CATCGTGTGGCAGGAAACAGAAGATGGGATGTTGGTGGTAAATGTAACGTGGAGGAACAAGACATATGTAGGTACACTCCTTGACTGCAC ACGACATGATTGGGCACCCCCAAGGTTCTGTGACTCCCCGACCAGTGACCTGGAAATGCGCAATGGCCGGGGTAGAGGCAAACGCATGCG TCCCAACAGTAATACACCTGTCAATGAGACAGCCACAGCCTCTGACAGCAAAGGGACCAGTAACAGCAGCAAAACCCGGGCAGGAGCCAA TAGCAAAGGCCGTCGGGGCAGCCAGAATTCTTCAGAGCACCGCCCACCTGCCAGCAGCACTTCTGAGGATGTCAAGGCCAGCCCTTCCTC AGCTAATAAGCGGAAAAACAAACCCCTTTCAGACATGGAGCTGAATTCTAGCTCAGAGGACTCCAAAGGGAGCAAGCGTGTCCGTACTAA TTCCATGGGCTCAGCCACTGGCCCCCTTCCTGGGACAAAGGTAGAACCCACTGTTCTGGACAGAAACTGCCCCTCCCCCGTCCTAATTGA CTGTCCCCACCCAAACTGCAACAAGAAGTACAAGCACATCAATGGACTTAAGTACCACCAAGCTCATGCCCATACAGATGATGACAGCAA GCCGGAAGCGGATGGGGACAGTGAGTACGGAGAGGAACCTATTCTCCATGCAGATCTTGGGAGCTGCAACGGTGCATCTGTCTCACAAAA AGGTTCCTTGTCCCCTGCCCGCTCAGCTACCCCCAAAGTTCGACTTGTAGAGCCCCATAGCCCTTCTCCTTCAAGCAAATTCAGCACAAA AGGCCTCTGTAAGAAAAAGTTGAGTGGGGAAGGGGACACAGACCTTGGGGCCTTATCCAATGATGGCTCTGATGATGGACCCTCAGTGAT GGATGAAACAAGCAATGATGCCTTTGATTCTTTAGAAAGGAAGTGTATGGAAAAAGAAAAATGTAAAAAACCCTCTAGTTTAAAACCTGA AAAGATTCCTTCCAAGAGCCTAAAGTCAGCCCGTCCCATTGCCCCTGCCATCCCCCCACAGCAAATCTACACCTTCCAGACAGCCACCTT CACAGCAGCGAGCCCAGGCTCTTCCTCAGGCTTGACCGCCACAGTGGCACAAGCCATGCCCAACAGTCCCCAACTCAAGCCCATTCAGCC CAAGCCCACTGTTATGGGAGAACCTTTCACAGTCAACCCTGCCTTGACTCCAGCCAAGGACAAGAAAAAGAAAGACAAAAAAAAGAAGGA ATCTTCAAAGGAACTTGAAAGTCCTCTGACCCCTGGGAAGGTGTGTCGAGCAGAGGAAGGCAAAAGCCCATTCAGGGAATCTTCAGGAGA TGGGATGAAAATGGAGGGGCTCCTAAATGGCTCATCAGACCCCCACCAAAGCCGACTGGCTAGCATCAAGGCTGAAGCCGACAAGATCTA CAGTTTCACGGACAATGCCCCCAGCCCTTCCATTGGAGGCAGTAGCCGCCTTGAAAACACTACCCCTACTCAGCCCCTGACTCCCTTACA TGTGGTGACCCAGAATGGAGCTGAAGCCAGCTCAGTCAAAACCAACAGCCCTGCATACTCTGACATCTCTGATGCTGGGGAGGATGGGGA GGGCAAGGTAGACAGTGTCAAATCAAAGGACGCCGAACAGTTGGTTAAAGAAGGGGCTAAGAAAACTCTTTTTCCCCCTCAGCCTCAGAG CAAAGACTCACCATATTACCAAGGCTTTGAGAGTTACTATTCTCCAAGTTATGCACAGTCCAGCCCTGGGGCTCTGAACCCCAGCAGCCA GGCAGGAGTGGAGAGCCAGGCCCTGAAGACAAAAAGGGATGAGGAACCTGAGAGCATAGAAGGGAAAGTGAAGAACGATATCTGTGAAGA AAAGAAGCCCGAGCTGAGCAGTTCCAGTCAGCAGCCCTCGGTCATCCAGCAGCGTCCCAATATGTACATGCAGTCCCTGTACTACAACCA GTATGCCTATGTACCCCCCTATGGCTACAGCGACCAGAGTTACCACACCCACCTTCTGAGCACTAACACGGCTTACCGGCAGCAGTACGA AGAACAGCAGAAACGCCAGAGCTTAGAGCAGCAGCAGCGGGGAGTGGACAAGAAGGCAGAGATGGGCCTGAAGGAGCGGGAGGCAGCACT CAAGGAAGAGTGGAAGCAAAAGCCGTCAATTCCACCAACTCTCACCAAGGCCCCCAGCCTGACAGACCTGGTGAAATCAGGACCTGGCAA GGCCAAGGAGCCAGGGGCTGACCCAGCCAAATCAGTCATCATTCCCAAGTTAGATGACTCTTCAAAACTCCCGGGCCAGGCCCCTGAAGG CCTTAAAGTGAAGCTGAGTGATGCCAGCCACCTAAGCAAGGAGGCCTCTGAGGCCAAGACAGGTGCTGAGTGTGGTCGACAGGCAGAGAT GGATCCAATACTCTGGTACCGACAGGAGGCAGAGCCCCGGATGTGGACATATGTTTATCCTGCCAAGTACTCAGACATCAAGTCAGAGGA TGAGCGGTGGAAGGAGGAGCGGGACCGCAAATTGAAGGAGGAAAGGAGTCGGAGTAAGGACTCTGTCCCCAAGGAAGATGGGAAGGAAAG CACAAGTAGTGACTGCAAGCTGCCCACGTCAGAGGAGTCTCGCCTTGGGAGCAAGGAGCCCCGGCCAAGTGTCCATGTGCCTGTGTCCTC CCCACTTACCCAGCACCAGTCCTACATCCCCTACATGCACGGCTATTCCTACAGTCAGTCCTACGACCCCAACCACCCCAGCTACCGGAG CATGCCTGCTGTGATGATGCAGAACTACCCAGGTTCCTACCTGCCTTCCAGCTACTCTTTTTCCCCATATGGCAGCAAGGTCTCAGGTGG TGAAGATGCTGACAAGGCACGAGCCAGCCCCAGTGTGACTTGTAAATCCAGCTCAGAGTCCAAAGCCCTGGACATCTTGCAGCAGCATGC CAGTCACTACAAGAGCAAGTCTCCCACGATAAGTGATAAAACTTCTCAGGAGAGAGATCGAGGAGGCTGTGGGGTGGTTGGGGGTGGTGG CAGCTGTAGCAGCGTCGGGGGAGCAAGTGGGGGTGAACGGAGTGTTGACCGGCCCCGCACCTCTCCTTCCCAGCGCCTGATGTCCACACA CCACCACCACCACCACTTGGGGTACTCATTGCTCCCAGCACAGTACAACTTACCCTATGCAGCAGGGCTTTCTTCTACAGCCATTGTTGC CAGCCAACAAGGCTCAACTCCCTCACTCTACCCACCCCCCAGGAGGTGAGAATGACACCAAGTGCCCGGATAAAGTCAGCTTCACGGGCC CGGACTGGCTTACCCAAGGAGGTGCTGAAGGTGCCGTTTAGACATCAGTTAAATGGTGTTGATCATCCTGTTTGCCGTTTCCACCATGAC TGAAGGCAGACCCTTGGCTATCTCACCTCCACCAGACCTCCGGACTACCTGACCCTACCTCTTCCTCAGGAGCTGGAGAGCTGGTACTTA GCAAAAATATTTATTCTCTCAGCCACAGTTATGACTATTGTGGCCTCTGTGGAGATGAAGGCACGGGAAGCAACCAGGGGAACATGGCCT CAGCCCAGAGAAGCCACTGCTCTGTTCCCCAAGCCCTTGGTCTGCTGCTGGAGCAGTACCAGCCCCCCCGCCCACCAGGGAGGGACCCCC ACCCCCAAGCACTGGGTAAGGTCTGAAGACAGCACAGCAGCCATACCCCTCACCATCATTACCACCATCACCAGATTCTGCATCTCCCTA GTGCTTTGCACCCTGGGAATTGGCAGCATGTGGAGGAACTAGAATCTCAGGAAAGAAATTGGGGGTTGTTTTCTACATAATTGTGAAAAC AAGGTCTTCAAATGTGGAGACTTCTCCCCATTTACATGAGCACATATAAACGCTCACAACCTAGCCTGGAAAGGAAGACCAAGGCATCTG CCCCAACATGGCCTTGAGCTGCCTGTGAGGCAGGGGGCAGGGGTTCCAACACCAGCACAGGGCTCCCCAGGGACACTGGGAGCAAGCTGG TGCTGGAGCATGAATGACGTCTGTGAAGTAGAACCTGCGTCCCCACTAAGTCCTGCTGCTTCTTATTCCCCAACTCCTTGCCCTTTTCCC TTCCCTCCTAACCCCTTGGTGCCTTTCCCAGGGGGATCCCCACACTGGTCTTGCCTCTTCTTTTCCACTGCTTGGCTCTTAAGCCTCAGG CAGATAAACTAGTATTCCCCCCAGCTTGGGGAACCTTGGAGTCTGCCAGGTCACCTTAGGGCAAGGCCCAGAAGGCAGCCCCTGGGAGCA CCCAGCAGTTCTTGGAGATGTCCTGTCATCTAGCCATCTGATATCTTCCTCATTTGAGGCCACAGATATATACAGCCCAATTCCTCTGTC TACAAGTACATGATTTTATATAGCTCAGTCTATAACCTCCATGTGGGCCAATATAAGCTGTGTTTCTTGGTAACACATATTTTGTTTGAG GGGCCACTGGCCATGGGAGGTTATTTGTTCCTTAGACCCTGGAATAACACATCCAAGCCATTACTTATTAGAGTCTCAGAATGTACTCAG TGGAGCTGTGCTTTGAGGCAGCCAACATTTCTCTGCTCTCCTTAGAAATGCAGTCTCCCAATGGAAGCTTTATACTCTTTGTACTGGGAA AGTGAGGATGATTTGGTAGCTTTATTGGGGTCATGTCTTCCCCAAGGTGTGGGGAGCTTAGCTTACTTGGCTTTTGAGGTATCATCCCTC TGTTCTCCCCTCCTATCTTTCCATGACCCTCTGGATTGAGAGAGAGAGATAAAGACTGACAGACACCAGTGTAGGCTGGAAAAGGGAGTG TGTGACCAGAGTGCCAAAAGTGACTAGGAGCAGGAACTTGGCTCCGACTCAGTTTGGAAAATGGGAAATAGGGGACAGTAAGCACAATGC CCAGTAGTAGTTGATTTCCAAGGACCCTGGAACCCTACACTTGAGAGGCTTAGGGTCACCATCTGCTCAAGAGGATCCCCTCTGATCTAC AGGCCTTTTCCCTAGGTTTCTGCCTCCTCGTTTTTGTTCAAGTTGGGTTCTGAGTCCTCCCCAAAAACCATTGTTTTAGACCTCTTGGCA GGGCCCCAAAACAGCCTCCCTCATACCCATCATTCCCTCTGCCTTCTGCTGCCCTCATGGGCAGTGCTCTGAGCAGTGACCTCCCTTTCC TCCGTGGAAGTAGCTAGTGCAGACACCGTCATCCCACCCCACCTGAGTCACCCCAACCAAGAGGGTGACTGAATTTCAGCCTGATTATGC CCTCCTGGGGCTCCTGTGAGGTGGAGCCAAGGTTCCCTCTCTGTTCCTGTTTGTTTTTAAATATTGTTGTGTGTTTTGTATCTGTGGCAC TGGCCTGCAGCATACTCTGTATATATTGTAAAGAAACCGTTAGGAGTAATTTTCTTTTGCATTGGGCAGGCATGGCCCTGCATTCCTGCC CTTTCCACTCATTCTGTAACACAGAGGACGAACTTCTGTATTAGCTGGGCAGCCTTGGGTTCTCCAGAAGAGAACAGGTTTTTCTTTTCC TTTTTAATTTTTCTTCTTAAACATTTGGCTCTTTGATCCTCATATCCAAGTCTCCCCTGAAGAGTAGGAGCTGCTCAGAAGAGCAGGTGA AAGCCACCATGGCAGATCCTGATGCCTGCCGGGCCTAGTCTTCCCTCTGAAATAACATGAAGCAGCAGCTGTGGAGATTCTTGACAAGTG CTGAGTGAAAGATTTGCTGCCCACCTCTACATGGGGAGGAGAAACACAGGTGGGAGCTACCTGTGGCATCCATGACCTAGTCAGAGGGAT GAGATGCTCAGCAGGGGTCCCCATCCTATCCCACCCCACAAACAAAGGCTGGAAAAATTTGCTACCAAGGGCCAAGACCACCAGACCAAG CCTGTTTATGAGCCACCCCTGCCCAGGCCCTCACAGACATTGCTCACGGGGCTTCCCATAGAGGAGAAGCTAAAGAGGGAGGGGGCCTCA TCCCCAGATAGATCAGGCAAGGCTTGGAGAGCTGCTCTTTAGGATCCACATCAACTACTTCCTCATTTTAAGGTATGGCAGTTCCCTTCA TCCCCTTTTCCTGCCTTGTACATGTACATGTATGAAATTTCCTTCTCTTACCGAACTCTCTCCACACATCACAAGGTCAAAGAACCACAC GCTTAGAAGGGTAAGAGGGCACCCTATGAAATGAAATGGTGATTTCTTGAGTCTCTTTTTTCCACGTTTAAGGGGCCATGGCAGGACTTA GAGTTGCGAGTTAAGACTGCAGAGGGCTAGAGAATTATTTCATACAGGCTTTGAGGCCACCCATGTCACTTATCCCGTATACCCTCTCAC CATCCCCTTGTCTACTCTGATGCCCCCAAGATGCAACTGGGCAGCTAGTTGGCCCCATAATTCTGGGCCTTTGTTGTTTGTTTTAATTAC TTGGGCATCCCAGGAAGCTTTCCAGTGATCTCCTACCATGGGCCCCCCTCCTGGGATCAAGCCCCTCCCAGGCCCTGTCCCCAGCCCCTC CTGCCCCAGCCCACCCGCTTGCCTTGGTGCTCAGCCCTCCCATTGGGAGCAGGTTGGGGCGAGCTGGAGGCCCGGGCTGGAGGGGCAGTG TTGCTGTTCATAGATTTTGTTCCATTGGCGTTGCTCTGTTGAATTTAATTTCAGTCTTCCTGATTCTTCCCTTCTGTAAAGTGTACATTA CCAAGTTCCTTGTTTTTTTATATATATATATAAATATATATATATACAAACTGTACTCTTTTTGCCTTTGTACATTCAGGCAAGAAGAGA AAATAAATCTTTTTAAGAGACAATCACAAATCTGTGAGGGCTGCTGGTTATTTCTCCTGGAGTTTGCTGCTGAGCTGCCTCTTCCTTCCT CCCAATTTTCCTGTTCTCCCTCAGCTCTCCTGATCTTCCTGGCCCTGCTCCATATGCATCCTCAGCTTCACTTTCCCTGGCTGATGGCAA GCTGTTGAATCCAGTGTCCAGACTACCTGCCTTGTAACCCTTTTCTGCCCAGCATTGTTTTCTGGCTTGGCCACTGGCTTAGCCCAGGAG CTTTACTCTGTGCCCTGGCCTCCCCTCTCTTCACCTTTAGATTTCCATTCACCGAAGTGGCTTTGGACCCCTGGGTACTCTGGGACCTGT TTCCTGGAGGCCCTGGCTTGGGACACTCACCTGTGAAACTATGCAGCTGGGAGCTCTCTGCCTAAGAGTTTGCACTATTTAAACCTGCCT GGGAGTTAGGACGGATGGTTTTAGGAATGACCGGAAAACTACCCCTAAAACTCCCCCGACATTCCAGCCTCTAGAATGCTCTGATCCAGA GCTCAGTGGATGATTCCCAGCTGGTGGACTCCTGTGGCTACCCCATCAGAACAAGGGCTAAGGGTTTATGGGTCAAGAGTATTTGATCAG AATTTTAAAGGGTGGTATACTCTGAAACACAGCCCAACCAAACCATTGTTTGGCCGCTTTCTCTTTTCCTCTACCTTCCTCATCCCCACT TTTTTCCCTTTCTCTCTACTTCCTCTTCTTAATTGGCTTTGGAATTGAAATATATTTTTAAATTATTTGTTGTATTTATTGAATAAAGTT >18282_18282_2_COL2A1-ZNF609_COL2A1_chr12_48398020_ENST00000380518_ZNF609_chr15_64915026_ENST00000326648_length(amino acids)=1172AA_BP=10 MSFGVRARMSMESPVSTPAVLPIHLLVPVVNNDISSPCEQIMVRTRSVGVNTCDVALATEPECLGPCEPGTSVNLEGIVWQETEDGMLVV NVTWRNKTYVGTLLDCTRHDWAPPRFCDSPTSDLEMRNGRGRGKRMRPNSNTPVNETATASDSKGTSNSSKTRAGANSKGRRGSQNSSEH RPPASSTSEDVKASPSSANKRKNKPLSDMELNSSSEDSKGSKRVRTNSMGSATGPLPGTKVEPTVLDRNCPSPVLIDCPHPNCNKKYKHI NGLKYHQAHAHTDDDSKPEADGDSEYGEEPILHADLGSCNGASVSQKGSLSPARSATPKVRLVEPHSPSPSSKFSTKGLCKKKLSGEGDT DLGALSNDGSDDGPSVMDETSNDAFDSLERKCMEKEKCKKPSSLKPEKIPSKSLKSARPIAPAIPPQQIYTFQTATFTAASPGSSSGLTA TVAQAMPNSPQLKPIQPKPTVMGEPFTVNPALTPAKDKKKKDKKKKESSKELESPLTPGKVCRAEEGKSPFRESSGDGMKMEGLLNGSSD PHQSRLASIKAEADKIYSFTDNAPSPSIGGSSRLENTTPTQPLTPLHVVTQNGAEASSVKTNSPAYSDISDAGEDGEGKVDSVKSKDAEQ LVKEGAKKTLFPPQPQSKDSPYYQGFESYYSPSYAQSSPGALNPSSQAGVESQALKTKRDEEPESIEGKVKNDICEEKKPELSSSSQQPS VIQQRPNMYMQSLYYNQYAYVPPYGYSDQSYHTHLLSTNTAYRQQYEEQQKRQSLEQQQRGVDKKAEMGLKEREAALKEEWKQKPSIPPT LTKAPSLTDLVKSGPGKAKEPGADPAKSVIIPKLDDSSKLPGQAPEGLKVKLSDASHLSKEASEAKTGAECGRQAEMDPILWYRQEAEPR MWTYVYPAKYSDIKSEDERWKEERDRKLKEERSRSKDSVPKEDGKESTSSDCKLPTSEESRLGSKEPRPSVHVPVSSPLTQHQSYIPYMH GYSYSQSYDPNHPSYRSMPAVMMQNYPGSYLPSSYSFSPYGSKVSGGEDADKARASPSVTCKSSSESKALDILQQHASHYKSKSPTISDK TSQERDRGGCGVVGGGGSCSSVGGASGGERSVDRPRTSPSQRLMSTHHHHHHLGYSLLPAQYNLPYAAGLSSTAIVASQQGSTPSLYPPP -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for COL2A1-ZNF609 |
| 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 |
| - 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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Related Drugs for COL2A1-ZNF609 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | COL2A1 | P02458 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
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Related Diseases for COL2A1-ZNF609 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL2A1 | C0220685 | Achondrogenesis type 2 | 13 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C2745959 | Spondyloepiphyseal dysplasia, congenita | 12 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0003865 | Arthritis, Adjuvant-Induced | 9 | CTD_human |
| Hgene | COL2A1 | C0265279 | Kniest dysplasia | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0971858 | Arthritis, Collagen-Induced | 9 | CTD_human |
| Hgene | COL2A1 | C0993582 | Arthritis, Experimental | 9 | CTD_human |
| Hgene | COL2A1 | C1836080 | Stickler Syndrome, Type I, Nonsyndromic Ocular | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Hgene | COL2A1 | C1835437 | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C1836683 | Czech dysplasia, metatarsal type | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C2020284 | Stickler syndrome, type 1 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0432214 | Namaqualand hip dysplasia | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0700635 | Strudwick syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C4225273 | SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE | 5 | CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0013604 | Edema | 4 | CTD_human |
| Hgene | COL2A1 | C0151603 | Anasarca | 4 | CTD_human |
| Hgene | COL2A1 | C0796173 | Spondyloperipheral dysplasia short ulna | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | COL2A1 | C4551562 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 | 4 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0003864 | Arthritis | 3 | CTD_human |
| Hgene | COL2A1 | C0023234 | Legg-Calve-Perthes Disease | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0162323 | Polyarthritis | 3 | CTD_human |
| Hgene | COL2A1 | C1851536 | Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Hgene | COL2A1 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
| Hgene | COL2A1 | C0008925 | Cleft Palate | 2 | CTD_human;GENOMICS_ENGLAND |
| Hgene | COL2A1 | C0021368 | Inflammation | 2 | CTD_human |
| Hgene | COL2A1 | C0029408 | Degenerative polyarthritis | 2 | CTD_human |
| Hgene | COL2A1 | C0041834 | Erythema | 2 | CTD_human |
| Hgene | COL2A1 | C0086743 | Osteoarthrosis Deformans | 2 | CTD_human |
| Hgene | COL2A1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| Hgene | COL2A1 | C1262477 | Weight decreased | 2 | CTD_human |
| Hgene | COL2A1 | C1852989 | Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia | 2 | GENOMICS_ENGLAND |
| Hgene | COL2A1 | C1861481 | Stickler syndrome, type 3 | 2 | ORPHANET |
| Hgene | COL2A1 | C4302548 | Dysspondyloenchondromatosis | 2 | ORPHANET |
| Hgene | COL2A1 | C4520892 | Otospondylomegaepiphyseal dysplasia | 2 | CTD_human;GENOMICS_ENGLAND |
| Hgene | COL2A1 | C0005974 | Bone Resorption | 1 | CTD_human |
| Hgene | COL2A1 | C0007302 | Cartilage Diseases | 1 | CTD_human |
| Hgene | COL2A1 | C0008479 | Chondrosarcoma | 1 | CTD_human |
| Hgene | COL2A1 | C0013366 | Dyschondroplasias | 1 | CTD_human |
| Hgene | COL2A1 | C0015397 | Disorder of eye | 1 | GENOMICS_ENGLAND |
| Hgene | COL2A1 | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human |
| Hgene | COL2A1 | C0020507 | Hyperplasia | 1 | CTD_human |
| Hgene | COL2A1 | C0025202 | melanoma | 1 | CTD_human |
| Hgene | COL2A1 | C0025237 | Melnick-Needles Syndrome | 1 | CTD_human |
| Hgene | COL2A1 | C0026760 | Multiple Epiphyseal Dysplasia | 1 | CTD_human |
| Hgene | COL2A1 | C0027092 | Myopia | 1 | CTD_human |
| Hgene | COL2A1 | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
| Hgene | COL2A1 | C0035305 | Retinal Detachment | 1 | CTD_human |
| Hgene | COL2A1 | C0036391 | Schwartz-Jampel Syndrome | 1 | CTD_human |
| Hgene | COL2A1 | C0038015 | Spondyloepiphyseal Dysplasia | 1 | CTD_human |
| Hgene | COL2A1 | C0039103 | Synovitis | 1 | CTD_human |
| Hgene | COL2A1 | C0085700 | Chondromalacia | 1 | CTD_human |
| Hgene | COL2A1 | C0086543 | Cataract | 1 | CTD_human |
| Hgene | COL2A1 | C0339546 | Retinal Pigment Epithelial Detachment | 1 | CTD_human |
| Hgene | COL2A1 | C0410480 | Avascular Necrosis of Femur Head | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Hgene | COL2A1 | C0410574 | Synovial Hypertrophy | 1 | CTD_human |
| Hgene | COL2A1 | C0432221 | Spondylometaphyseal dysplasia, 'corner fracture' type | 1 | ORPHANET |
| Hgene | COL2A1 | C0432272 | Van Buchem disease | 1 | CTD_human |
| Hgene | COL2A1 | C0524524 | Pseudoaphakia | 1 | CTD_human |
| Hgene | COL2A1 | C0542428 | Hypochondrogenesis | 1 | ORPHANET |
| Hgene | COL2A1 | C1510497 | Lens Opacities | 1 | CTD_human |
| Hgene | COL2A1 | C1691779 | Sensory hearing loss | 1 | CTD_human |
| Hgene | COL2A1 | C1836081 | RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT | 1 | ORPHANET |
| Hgene | COL2A1 | C1837218 | Cleft palate, isolated | 1 | CTD_human |
| Hgene | COL2A1 | C1840452 | Hyaloideoretinal degeneration of Wagner | 1 | CTD_human |
| Hgene | COL2A1 | C1855310 | Megaepiphyseal dwarfism | 1 | CTD_human |
| Hgene | COL2A1 | C1866688 | Spondylometaphyseal dysplasia, Algerian type | 1 | ORPHANET |
| Hgene | COL2A1 | C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | 1 | CTD_human |
| Hgene | COL2A1 | C4479260 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 | 1 | ORPHANET |
| Hgene | COL2A1 | C4551479 | Schwartz-Jampel Syndrome, Type 1 | 1 | CTD_human |
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