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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:COL2A1-ZNF609 (FusionGDB2 ID:18295)

Fusion Gene Summary for COL2A1-ZNF609

check button Fusion gene summary
Fusion gene informationFusion gene name: COL2A1-ZNF609
Fusion gene ID: 18295
HgeneTgene
Gene symbol

COL2A1

ZNF609

Gene ID

1280

23060

Gene namecollagen type II alpha 1 chainzinc finger protein 609
SynonymsANFH|AOM|COL11A3|SEDC|STL1-
Cytomap

12q13.11

15q22.31

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1zinc finger protein 609
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000380518, ENST00000493991, 
ENST00000337299, 		ENST00000326648, 
ENST00000416172, ENST00000559364, 
Fusion gene scores* DoF score5 X 6 X 2=6012 X 15 X 3=540
# samples 617
** MAII scorelog2(6/60*10)=0log2(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 breakpointCOL2A1(48398020)-ZNF609(64915026), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneZNF609

GO:2000291

regulation of myoblast proliferation

28344082


check buttonFusion 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.

check buttonFusion 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.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-EJ-5503-01ACOL2A1chr12

48398020

-ZNF609chr15

64915026

+
ChimerDB4PRADTCGA-EJ-5503-01ACOL2A1chr12

48398020

-ZNF609chr15

64915026

+


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Fusion Gene ORF analysis for COL2A1-ZNF609

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000380518ENST00000326648COL2A1chr12

48398020

-ZNF609chr15

64915026

+
5CDS-intronENST00000380518ENST00000416172COL2A1chr12

48398020

-ZNF609chr15

64915026

+
5CDS-intronENST00000380518ENST00000559364COL2A1chr12

48398020

-ZNF609chr15

64915026

+
intron-3CDSENST00000493991ENST00000326648COL2A1chr12

48398020

-ZNF609chr15

64915026

+
intron-intronENST00000493991ENST00000416172COL2A1chr12

48398020

-ZNF609chr15

64915026

+
intron-intronENST00000493991ENST00000559364COL2A1chr12

48398020

-ZNF609chr15

64915026

+
In-frameENST00000337299ENST00000326648COL2A1chr12

48398020

-ZNF609chr15

64915026

+
5CDS-intronENST00000337299ENST00000416172COL2A1chr12

48398020

-ZNF609chr15

64915026

+
5CDS-intronENST00000337299ENST00000559364COL2A1chr12

48398020

-ZNF609chr15

64915026

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000380518COL2A1chr1248398020-ENST00000326648ZNF609chr1564915026+811825022037381172
ENST00000337299COL2A1chr1248398020-ENST00000326648ZNF609chr1564915026+7953855535731172

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000380518ENST00000326648COL2A1chr1248398020-ZNF609chr1564915026+0.0014089270.998591
ENST00000337299ENST00000326648COL2A1chr1248398020-ZNF609chr1564915026+0.0011646370.9988354

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Fusion Genomic Features for COL2A1-ZNF609


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
COL2A1chr1248398019-ZNF609chr1564915025+0.0023768680.99762315
COL2A1chr1248398019-ZNF609chr1564915025+0.0023768680.99762315

check buttonDistribution 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.

check buttonDistribution 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


check button Go to

FGviewer for the breakpoints of 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneZNF609chr12:48398020chr15:64915026ENST00000326648091333_1336249.02578.3333333333335Compositional biasNote=Poly-Gly
TgeneZNF609chr12:48398020chr15:64915026ENST00000326648091366_1371249.02578.3333333333335Compositional biasNote=Poly-His
TgeneZNF609chr12:48398020chr15:64915026ENST0000032664809725_735249.02578.3333333333335Compositional biasNote=Poly-Lys
TgeneZNF609chr12:48398020chr15:64915026ENST0000032664809952_955249.02578.3333333333335Compositional biasNote=Poly-Ser
TgeneZNF609chr12:48398020chr15:64915026ENST0000032664809495_520249.02578.3333333333335Zinc fingerC2H2-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000337299-1531253_148728.3333333333333321419.0DomainFibrillar collagen NC1
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000337299-15332_9028.3333333333333321419.0DomainVWFC
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000380518-1541253_148728.3333333333333321488.0DomainFibrillar collagen NC1
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000380518-15432_9028.3333333333333321488.0DomainVWFC
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000337299-1531215_124128.3333333333333321419.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000337299-153201_121428.3333333333333321419.0RegionNote=Triple-helical region
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000380518-1541215_124128.3333333333333321488.0RegionNote=Nonhelical region (C-terminal)
HgeneCOL2A1chr12:48398020chr15:64915026ENST00000380518-154201_121428.3333333333333321488.0RegionNote=Triple-helical region


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Fusion Gene Sequence for COL2A1-ZNF609


check button 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.
>In-frame_ENST00000380518_ENST00000326648_TCGA-EJ-5503-01A_COL2A1_chr12_48398020_-_ZNF609_chr15_64915026_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

>In-frame_ENST00000380518_ENST00000326648_TCGA-EJ-5503-01A_COL2A1_chr12_48398020_-_ZNF609_chr15_64915026_length(amino acids)=1172AA_start in transcript=220_stop in transcript=3738
MSFGVRARMSMESPVSTPAVLPIHLLVPVVNNDISSPCEQIMVRTRSVGVNTCDVALATEPECLGPCEPGTSVNLEGIVWQETEDGMLVV
NVTWRNKTYVGTLLDCTRHDWAPPRFCDSPTSDLEMRNGRGRGKRMRPNSNTPVNETATASDSKGTSNSSKTRAGANSKGRRGSQNSSEH
RPPASSTSEDVKASPSSANKRKNKPLSDMELNSSSEDSKGSKRVRTNSMGSATGPLPGTKVEPTVLDRNCPSPVLIDCPHPNCNKKYKHI
NGLKYHQAHAHTDDDSKPEADGDSEYGEEPILHADLGSCNGASVSQKGSLSPARSATPKVRLVEPHSPSPSSKFSTKGLCKKKLSGEGDT
DLGALSNDGSDDGPSVMDETSNDAFDSLERKCMEKEKCKKPSSLKPEKIPSKSLKSARPIAPAIPPQQIYTFQTATFTAASPGSSSGLTA
TVAQAMPNSPQLKPIQPKPTVMGEPFTVNPALTPAKDKKKKDKKKKESSKELESPLTPGKVCRAEEGKSPFRESSGDGMKMEGLLNGSSD
PHQSRLASIKAEADKIYSFTDNAPSPSIGGSSRLENTTPTQPLTPLHVVTQNGAEASSVKTNSPAYSDISDAGEDGEGKVDSVKSKDAEQ
LVKEGAKKTLFPPQPQSKDSPYYQGFESYYSPSYAQSSPGALNPSSQAGVESQALKTKRDEEPESIEGKVKNDICEEKKPELSSSSQQPS
VIQQRPNMYMQSLYYNQYAYVPPYGYSDQSYHTHLLSTNTAYRQQYEEQQKRQSLEQQQRGVDKKAEMGLKEREAALKEEWKQKPSIPPT
LTKAPSLTDLVKSGPGKAKEPGADPAKSVIIPKLDDSSKLPGQAPEGLKVKLSDASHLSKEASEAKTGAECGRQAEMDPILWYRQEAEPR
MWTYVYPAKYSDIKSEDERWKEERDRKLKEERSRSKDSVPKEDGKESTSSDCKLPTSEESRLGSKEPRPSVHVPVSSPLTQHQSYIPYMH
GYSYSQSYDPNHPSYRSMPAVMMQNYPGSYLPSSYSFSPYGSKVSGGEDADKARASPSVTCKSSSESKALDILQQHASHYKSKSPTISDK
TSQERDRGGCGVVGGGGSCSSVGGASGGERSVDRPRTSPSQRLMSTHHHHHHLGYSLLPAQYNLPYAAGLSSTAIVASQQGSTPSLYPPP

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>In-frame_ENST00000337299_ENST00000326648_TCGA-EJ-5503-01A_COL2A1_chr12_48398020_-_ZNF609_chr15_64915026_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

>In-frame_ENST00000337299_ENST00000326648_TCGA-EJ-5503-01A_COL2A1_chr12_48398020_-_ZNF609_chr15_64915026_length(amino acids)=1172AA_start in transcript=55_stop in transcript=3573
MSFGVRARMSMESPVSTPAVLPIHLLVPVVNNDISSPCEQIMVRTRSVGVNTCDVALATEPECLGPCEPGTSVNLEGIVWQETEDGMLVV
NVTWRNKTYVGTLLDCTRHDWAPPRFCDSPTSDLEMRNGRGRGKRMRPNSNTPVNETATASDSKGTSNSSKTRAGANSKGRRGSQNSSEH
RPPASSTSEDVKASPSSANKRKNKPLSDMELNSSSEDSKGSKRVRTNSMGSATGPLPGTKVEPTVLDRNCPSPVLIDCPHPNCNKKYKHI
NGLKYHQAHAHTDDDSKPEADGDSEYGEEPILHADLGSCNGASVSQKGSLSPARSATPKVRLVEPHSPSPSSKFSTKGLCKKKLSGEGDT
DLGALSNDGSDDGPSVMDETSNDAFDSLERKCMEKEKCKKPSSLKPEKIPSKSLKSARPIAPAIPPQQIYTFQTATFTAASPGSSSGLTA
TVAQAMPNSPQLKPIQPKPTVMGEPFTVNPALTPAKDKKKKDKKKKESSKELESPLTPGKVCRAEEGKSPFRESSGDGMKMEGLLNGSSD
PHQSRLASIKAEADKIYSFTDNAPSPSIGGSSRLENTTPTQPLTPLHVVTQNGAEASSVKTNSPAYSDISDAGEDGEGKVDSVKSKDAEQ
LVKEGAKKTLFPPQPQSKDSPYYQGFESYYSPSYAQSSPGALNPSSQAGVESQALKTKRDEEPESIEGKVKNDICEEKKPELSSSSQQPS
VIQQRPNMYMQSLYYNQYAYVPPYGYSDQSYHTHLLSTNTAYRQQYEEQQKRQSLEQQQRGVDKKAEMGLKEREAALKEEWKQKPSIPPT
LTKAPSLTDLVKSGPGKAKEPGADPAKSVIIPKLDDSSKLPGQAPEGLKVKLSDASHLSKEASEAKTGAECGRQAEMDPILWYRQEAEPR
MWTYVYPAKYSDIKSEDERWKEERDRKLKEERSRSKDSVPKEDGKESTSSDCKLPTSEESRLGSKEPRPSVHVPVSSPLTQHQSYIPYMH
GYSYSQSYDPNHPSYRSMPAVMMQNYPGSYLPSSYSFSPYGSKVSGGEDADKARASPSVTCKSSSESKALDILQQHASHYKSKSPTISDK
TSQERDRGGCGVVGGGGSCSSVGGASGGERSVDRPRTSPSQRLMSTHHHHHHLGYSLLPAQYNLPYAAGLSSTAIVASQQGSTPSLYPPP

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Fusion Gene PPI Analysis for COL2A1-ZNF609


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for COL2A1-ZNF609


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for COL2A1-ZNF609


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL2A1C0220685Achondrogenesis type 213CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C2745959Spondyloepiphyseal dysplasia, congenita12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0003865Arthritis, Adjuvant-Induced9CTD_human
HgeneCOL2A1C0265279Kniest dysplasia9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0971858Arthritis, Collagen-Induced9CTD_human
HgeneCOL2A1C0993582Arthritis, Experimental9CTD_human
HgeneCOL2A1C1836080Stickler Syndrome, Type I, Nonsyndromic Ocular8CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL2A1C1835437Platyspondylic Lethal Skeletal Dysplasia, Torrance Type6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C1836683Czech dysplasia, metatarsal type6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C2020284Stickler syndrome, type 16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0432214Namaqualand hip dysplasia5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0700635Strudwick syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C4225273SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE5CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0013604Edema4CTD_human
HgeneCOL2A1C0151603Anasarca4CTD_human
HgeneCOL2A1C0796173Spondyloperipheral dysplasia short ulna4CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL2A1C4551562AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 14GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0003864Arthritis3CTD_human
HgeneCOL2A1C0023234Legg-Calve-Perthes Disease3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0162323Polyarthritis3CTD_human
HgeneCOL2A1C1851536Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL2A1C0003873Rheumatoid Arthritis2CTD_human
HgeneCOL2A1C0008925Cleft Palate2CTD_human;GENOMICS_ENGLAND
HgeneCOL2A1C0021368Inflammation2CTD_human
HgeneCOL2A1C0029408Degenerative polyarthritis2CTD_human
HgeneCOL2A1C0041834Erythema2CTD_human
HgeneCOL2A1C0086743Osteoarthrosis Deformans2CTD_human
HgeneCOL2A1C0376634Craniofacial Abnormalities2CTD_human
HgeneCOL2A1C1262477Weight decreased2CTD_human
HgeneCOL2A1C1852989Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia2GENOMICS_ENGLAND
HgeneCOL2A1C1861481Stickler syndrome, type 32ORPHANET
HgeneCOL2A1C4302548Dysspondyloenchondromatosis2ORPHANET
HgeneCOL2A1C4520892Otospondylomegaepiphyseal dysplasia2CTD_human;GENOMICS_ENGLAND
HgeneCOL2A1C0005974Bone Resorption1CTD_human
HgeneCOL2A1C0007302Cartilage Diseases1CTD_human
HgeneCOL2A1C0008479Chondrosarcoma1CTD_human
HgeneCOL2A1C0013366Dyschondroplasias1CTD_human
HgeneCOL2A1C0015397Disorder of eye1GENOMICS_ENGLAND
HgeneCOL2A1C0018784Sensorineural Hearing Loss (disorder)1CTD_human
HgeneCOL2A1C0020507Hyperplasia1CTD_human
HgeneCOL2A1C0025202melanoma1CTD_human
HgeneCOL2A1C0025237Melnick-Needles Syndrome1CTD_human
HgeneCOL2A1C0026760Multiple Epiphyseal Dysplasia1CTD_human
HgeneCOL2A1C0027092Myopia1CTD_human
HgeneCOL2A1C0029422Osteochondrodysplasias1CTD_human
HgeneCOL2A1C0035305Retinal Detachment1CTD_human
HgeneCOL2A1C0036391Schwartz-Jampel Syndrome1CTD_human
HgeneCOL2A1C0038015Spondyloepiphyseal Dysplasia1CTD_human
HgeneCOL2A1C0039103Synovitis1CTD_human
HgeneCOL2A1C0085700Chondromalacia1CTD_human
HgeneCOL2A1C0086543Cataract1CTD_human
HgeneCOL2A1C0339546Retinal Pigment Epithelial Detachment1CTD_human
HgeneCOL2A1C0410480Avascular Necrosis of Femur Head1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL2A1C0410574Synovial Hypertrophy1CTD_human
HgeneCOL2A1C0432221Spondylometaphyseal dysplasia, 'corner fracture' type1ORPHANET
HgeneCOL2A1C0432272Van Buchem disease1CTD_human
HgeneCOL2A1C0524524Pseudoaphakia1CTD_human
HgeneCOL2A1C0542428Hypochondrogenesis1ORPHANET
HgeneCOL2A1C1510497Lens Opacities1CTD_human
HgeneCOL2A1C1691779Sensory hearing loss1CTD_human
HgeneCOL2A1C1836081RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT1ORPHANET
HgeneCOL2A1C1837218Cleft palate, isolated1CTD_human
HgeneCOL2A1C1840452Hyaloideoretinal degeneration of Wagner1CTD_human
HgeneCOL2A1C1855310Megaepiphyseal dwarfism1CTD_human
HgeneCOL2A1C1866688Spondylometaphyseal dysplasia, Algerian type1ORPHANET
HgeneCOL2A1C3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked1CTD_human
HgeneCOL2A1C4479260AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 21ORPHANET
HgeneCOL2A1C4551479Schwartz-Jampel Syndrome, Type 11CTD_human