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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:ATP2A2-COL2A1 (FusionGDB2 ID:HG488TG1280)

Fusion Gene Summary for ATP2A2-COL2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2A2-COL2A1
Fusion gene ID: hg488tg1280
HgeneTgene
Gene symbol

ATP2A2

COL2A1

Gene ID

488

1280

Gene nameATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2collagen type II alpha 1 chain
SynonymsATP2B|DAR|DD|SERCA2ANFH|AOM|COL11A3|SEDC|STL1
Cytomap('ATP2A2')('COL2A1')

12q24.11

12q13.11

Type of geneprotein-codingprotein-coding
Descriptionsarcoplasmic/endoplasmic reticulum calcium ATPase 2ATPase Ca++ transporting cardiac muscle slow twitch 2ATPase, Ca++ dependent, slow-twitch, cardiac muscle-2SR Ca(2+)-ATPase 2calcium pump 2calcium-transporting ATPase sarcoplasmic reticulum type, slowcollagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1
Modification date2020031320200328
UniProtAcc.

P02458

Ensembl transtripts involved in fusion geneENST00000308664, ENST00000395494, 
ENST00000539276, ENST00000550248, 
ENST00000552636, 
Fusion gene scores* DoF score17 X 22 X 11=41148 X 9 X 4=288
# samples 2710
** MAII scorelog2(27/4114*10)=-3.9295104814741
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2A2 [Title/Abstract] AND COL2A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP2A2(110771948)-COL2A1(48378382), # samples:2
Anticipated loss of major functional domain due to fusion event.ATP2A2-COL2A1 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.
ATP2A2-COL2A1 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.
ATP2A2-COL2A1 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.
ATP2A2-COL2A1 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneATP2A2

GO:0032469

endoplasmic reticulum calcium ion homeostasis

16402920

HgeneATP2A2

GO:0032470

positive regulation of endoplasmic reticulum calcium ion concentration

16402920

HgeneATP2A2

GO:0070588

calcium ion transmembrane transport

16402920

HgeneATP2A2

GO:1903515

calcium ion transport from cytosol to endoplasmic reticulum

16402920


check buttonFusion gene breakpoints across ATP2A2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across COL2A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-3B-A9HL-01AATP2A2chr12

110771948

-COL2A1chr12

48378382

-
ChimerDB4SARCTCGA-3B-A9HL-01AATP2A2chr12

110771948

+COL2A1chr12

48378382

-


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Fusion Gene ORF analysis for ATP2A2-COL2A1

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
5CDS-5UTRENST00000308664ENST00000337299ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
5CDS-5UTRENST00000308664ENST00000493991ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
5CDS-5UTRENST00000395494ENST00000337299ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
5CDS-5UTRENST00000395494ENST00000493991ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
5CDS-5UTRENST00000539276ENST00000337299ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
5CDS-5UTRENST00000539276ENST00000493991ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
In-frameENST00000308664ENST00000380518ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
In-frameENST00000395494ENST00000380518ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
In-frameENST00000539276ENST00000380518ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-3CDSENST00000550248ENST00000380518ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-3CDSENST00000552636ENST00000380518ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-5UTRENST00000550248ENST00000337299ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-5UTRENST00000550248ENST00000493991ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-5UTRENST00000552636ENST00000337299ATP2A2chr12

110771948

+COL2A1chr12

48378382

-
intron-5UTRENST00000552636ENST00000493991ATP2A2chr12

110771948

+COL2A1chr12

48378382

-

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)
ENST00000308664ATP2A2chr12110771948+ENST00000380518COL2A1chr1248378382-5166209332947231464
ENST00000395494ATP2A2chr12110771948+ENST00000380518COL2A1chr1248378382-4974190121845311437
ENST00000539276ATP2A2chr12110771948+ENST00000380518COL2A1chr1248378382-4601152810941581349

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
ENST00000308664ENST00000380518ATP2A2chr12110771948+COL2A1chr1248378382-0.001779490.9982205
ENST00000395494ENST00000380518ATP2A2chr12110771948+COL2A1chr1248378382-0.0017415970.9982584
ENST00000539276ENST00000380518ATP2A2chr12110771948+COL2A1chr1248378382-0.0010293520.9989706

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Fusion Genomic Features for ATP2A2-COL2A1


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)

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.
genomic feature

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Fusion Protein Features for ATP2A2-COL2A1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:110771948/chr12:48378382)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.COL2A1

P02458

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}.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.

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
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121111_253473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+11211_48473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121274_295473998.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+112170_89473998.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019111_2534461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+10191_484461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019274_2954461016.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+101970_894461016.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120111_2534731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+11201_484731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120274_2954731043.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+112070_894731043.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121254_273473998.0TransmembraneHelical%3B Name%3D3
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121296_313473998.0TransmembraneHelical%3B Name%3D4
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+112149_69473998.0TransmembraneHelical%3B Name%3D1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+112190_110473998.0TransmembraneHelical%3B Name%3D2
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019254_2734461016.0TransmembraneHelical%3B Name%3D3
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019296_3134461016.0TransmembraneHelical%3B Name%3D4
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+101949_694461016.0TransmembraneHelical%3B Name%3D1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+101990_1104461016.0TransmembraneHelical%3B Name%3D2
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120254_2734731043.0TransmembraneHelical%3B Name%3D3
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120296_3134731043.0TransmembraneHelical%3B Name%3D4
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+112049_694731043.0TransmembraneHelical%3B Name%3D1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+112090_1104731043.0TransmembraneHelical%3B Name%3D2
TgeneCOL2A1chr12:110771948chr12:48378382ENST0000033729925531253_14875421419.0DomainFibrillar collagen NC1
TgeneCOL2A1chr12:110771948chr12:48378382ENST0000038051826541253_14876111488.0DomainFibrillar collagen NC1
TgeneCOL2A1chr12:110771948chr12:48378382ENST0000033729925531215_12415421419.0RegionNote=Nonhelical region (C-terminal)
TgeneCOL2A1chr12:110771948chr12:48378382ENST0000038051826541215_12416111488.0RegionNote=Nonhelical region (C-terminal)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121314_756473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121777_786473998.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121808_827473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121851_896473998.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121917_929473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121949_963473998.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121985_1042473998.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019314_7564461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019777_7864461016.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019808_8274461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019851_8964461016.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019917_9294461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019949_9634461016.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019985_10424461016.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120314_7564731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120777_7864731043.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120808_8274731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120851_8964731043.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120917_9294731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120949_9634731043.0Topological domainLumenal
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120985_10424731043.0Topological domainCytoplasmic
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121757_776473998.0TransmembraneHelical%3B Name%3D5
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121828_850473998.0TransmembraneHelical%3B Name%3D7
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121897_916473998.0TransmembraneHelical%3B Name%3D8
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121930_948473998.0TransmembraneHelical%3B Name%3D9
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121964_984473998.0TransmembraneHelical%3B Name%3D10
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019757_7764461016.0TransmembraneHelical%3B Name%3D5
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019828_8504461016.0TransmembraneHelical%3B Name%3D7
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019897_9164461016.0TransmembraneHelical%3B Name%3D8
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019930_9484461016.0TransmembraneHelical%3B Name%3D9
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019964_9844461016.0TransmembraneHelical%3B Name%3D10
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120757_7764731043.0TransmembraneHelical%3B Name%3D5
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120828_8504731043.0TransmembraneHelical%3B Name%3D7
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120897_9164731043.0TransmembraneHelical%3B Name%3D8
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120930_9484731043.0TransmembraneHelical%3B Name%3D9
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120964_9844731043.0TransmembraneHelical%3B Name%3D10
TgeneCOL2A1chr12:110771948chr12:48378382ENST00000337299255332_905421419.0DomainVWFC
TgeneCOL2A1chr12:110771948chr12:48378382ENST00000380518265432_906111488.0DomainVWFC
TgeneCOL2A1chr12:110771948chr12:48378382ENST000003372992553201_12145421419.0RegionNote=Triple-helical region
TgeneCOL2A1chr12:110771948chr12:48378382ENST000003805182654201_12146111488.0RegionNote=Triple-helical region


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Fusion Gene Sequence for ATP2A2-COL2A1


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.
>7832_7832_1_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000308664_COL2A1_chr12_48378382_ENST00000380518_length(transcript)=5166nt_BP=2093nt
GCGCGGGAGGAGGGAGCCGGGAGGAGGGGGCGGGGCCGCGCCGCCCGCGCCGCGCTGGGCGCTCTCGGCCAATGAGCGGCGTCCACATGC
CGCGGCGGCGGCGAAAGGGGAGGCAGCGGCCGATAAATGCTATTAGAGCAGCCGCCGCGGAGCCGTCCCCGACGCCACCTCCTTTTCCTT
CGCCGCAGTTTCCTCCGCCGCTGTCGGGCGTGCGGCGCTGAGGGACCCGGGCGAGCGCGCCGCGCACCGCCCCGCCGGCTCGCCTCCCTC
GCCGCGTTCCGCCCTCAGTGGTCTGCCGGGCGCCCCCTCCTCCGGCCCGGGCGGGGCCTCTGATCGCCTCAAGAGAGCGGGGAGGGGGCT
CGGGGGCCGCGGCCTGCCCTCCCGGCGGGCGGCTGAGGGCGAGGGAGGCCCTCCCTTCTGGCGAGGGGAGGGAGGGTGGGTCAGGAGCCC
CCAACCCGCCCTGCGGAGCTCGGGGCCGCGCGAGGGGCGGTTGTCTGGGGGAGGGGGCGCGGGGTGATTCAGCGCCCGGCGAGGCGGAAG
CGGCCGCAAGAGGAGGAGGGGAGAGCCCGTCCGCGCCTGGGCTCCCGGGGTGGCACGAGCCCGCGGCCGGAGTGCGAGGCGGAGGCGAGG
AGGCCGCGGGGACGGGAGGCGAGGCCGGCCGGGCCCCCGAAGCCATGGAGAACGCGCACACCAAGACGGTGGAGGAGGTGCTGGGCCACT
TCGGCGTCAACGAGAGTACGGGGCTGAGCCTGGAACAGGTCAAGAAGCTTAAGGAGAGATGGGGCTCCAACGAGTTACCGGCTGAAGAAG
GAAAAACCTTGCTGGAACTTGTGATTGAGCAGTTTGAAGACTTGCTAGTTAGGATTTTATTACTGGCAGCATGTATATCTTTTGTTTTGG
CTTGGTTTGAAGAAGGTGAAGAAACAATTACAGCCTTTGTAGAACCTTTTGTAATTTTACTCATATTAGTAGCCAATGCAATTGTGGGTG
TATGGCAGGAAAGAAATGCTGAAAATGCCATCGAAGCCCTTAAGGAATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGA
GTGTGCAGCGGATTAAAGCTAAAGACATAGTTCCTGGTGATATTGTAGAAATTGCTGTTGGTGACAAAGTTCCTGCTGATATAAGGTTAA
CTTCCATCAAATCTACCACACTAAGAGTTGACCAGTCAATTCTCACAGGTGAATCTGTCTCTGTCATCAAGCACACTGATCCCGTCCCTG
ACCCACGAGCTGTCAACCAAGATAAAAAGAACATGCTGTTTTCTGGTACAAACATTGCTGCTGGGAAAGCTATGGGAGTGGTGGTAGCAA
CTGGAGTTAACACCGAAATTGGCAAGATCCGGGATGAAATGGTGGCAACAGAACAGGAGAGAACACCCCTTCAGCAAAAACTAGATGAAT
TTGGGGAACAGCTTTCCAAAGTCATCTCCCTTATTTGCATTGCAGTCTGGATCATAAATATTGGGCACTTCAATGACCCGGTTCATGGAG
GGTCCTGGATCAGAGGTGCTATTTACTACTTTAAAATTGCAGTGGCCCTGGCTGTAGCAGCCATTCCTGAAGGTCTGCCTGCAGTCATCA
CCACCTGCCTGGCTCTTGGAACTCGCAGAATGGCAAAGAAAAATGCCATTGTTCGAAGCCTCCCGTCTGTGGAAACCCTTGGTTGTACTT
CTGTTATCTGCTCAGACAAGACTGGTACACTTACAACAAACCAGATGTCAGTCTGCAGGATGTTCATTCTGGACAGAGTGGAAGGTGATA
CTTGTTCCCTTAATGAGTTTACCATAACTGGATCAACTTATGCACCTATTGGAGAAGTGCATAAAGATGATAAACCAGTGAATTGTCACC
AGTATGATGGTCTGGTAGAATTAGCAACAATTTGTGCTCTTTGTAATGACTCTGCTTTGGATTACAATGAGGCAAAGGGTGTGTATGAAA
AAGTTGGAGAAGCTACAGAGACTGCTCTCACTTGCCTAGTAGAGAAGATGAATGTATTTGATACCGAATTGAAGGGTCTTTCTAAAATAG
AACGTGCAAATGCCTGCAACTCAGGTGAGCCTGGCAAAGCTGGTGAGAAGGGACTGCCTGGTGCTCCTGGTCTGAGGGGTCTTCCTGGCA
AAGATGGTGAGACAGGTGCTGCAGGACCCCCTGGCCCTGCTGGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTGGGT
TCCAGGGACTTCCTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCC
TCGTGGGTCCCAGGGGTGAACGAGGTTTCCCAGGTGAACGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCA
CTCCTGGCACTGATGGTCCCAAAGGTGCATCTGGCCCAGCAGGCCCCCCTGGGGCTCAGGGCCCTCCAGGTCTTCAGGGAATGCCTGGCG
AGAGGGGAGCAGCTGGTATCGCTGGGCCCAAAGGCGACAGGGGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGAAAGGATGGTG
GACGAGGCCTGACAGGTCCCATTGGCCCCCCTGGCCCAGCTGGTGCTAATGGCGAGAAGGGAGAAGTTGGACCTCCTGGTCCTGCAGGAA
GTGCTGGTGCTCGTGGCGCTCCGGGTGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCTGGTGCTGATGGCC
AGCCTGGGGCCAAGGGTGAGCAAGGAGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGC
CTCAGGGTCCTACTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGGAGCCACTGGATTCCCTGGAGCTGCTGGCC
GCGTTGGACCCCCAGGCTCCAATGGCAACCCTGGACCCCCTGGTCCCCCTGGTCCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAG
ACAGCGGCCCCCCTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCGAGAAGGGAGAGCCTGGAGATGACGGTC
CCTCTGGTGCCGAAGGTCCACCAGGTCCCCAGGGTCTGGCTGGTCAGAGAGGCATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGAT
TCCCTGGCTTGCCTGGCCCGTCGGGTGAGCCCGGCAAGCAGGGTGCTCCTGGAGCATCTGGAGACAGAGGTCCTCCTGGCCCCGTGGGTC
CTCCTGGCCTGACGGGTCCTGCAGGTGAACCTGGACGAGAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAG
TCAAGGGTGATCGTGGTGAGACTGGTGCTGTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAACTGGCA
AGCAAGGAGACAGAGGAGAAGCTGGTGCACAAGGCCCCATGGGACCCTCAGGACCAGCTGGAGCCCGGGGAATCCAGGGTCCTCAAGGCC
CCAGAGGTGACAAAGGAGAGGCTGGAGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGTCTGCCCGGCC
CTCCTGGTCCTTCTGGAGACCAAGGTGCTTCTGGTCCTGCTGGTCCTTCTGGCCCTAGAGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCA
AAGATGGTGCTAATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGGTCCTCCTGGAA
ATCCTGGACCCCCTGGTCCTCCAGGTCCCCCTGGCCCTGGCATCGACATGTCCGCCTTTGCTGGCTTAGGCCCGAGAGAGAAGGGCCCCG
ACCCCCTGCAGTACATGCGGGCCGACCAGGCAGCCGGTGGCCTGAGACAGCATGACGCCGAGGTGGATGCCACACTCAAGTCCCTCAACA
ACCAGATTGAGAGCATCCGCAGCCCCGAGGGCTCCCGCAAGAACCCTGCTCGCACCTGCAGAGACCTGAAACTCTGCCACCCTGAGTGGA
AGAGTGGAGACTACTGGATTGACCCCAACCAAGGCTGCACCTTGGACGCCATGAAGGTTTTCTGCAACATGGAGACTGGCGAGACTTGCG
TCTACCCCAATCCAGCAAACGTTCCCAAGAAGAACTGGTGGAGCAGCAAGAGCAAGGAGAAGAAACACATCTGGTTTGGAGAAACCATCA
ATGGTGGCTTCCATTTCAGCTATGGAGATGACAATCTGGCTCCCAACACTGCCAACGTCCAGATGACCTTCCTACGCCTGCTGTCCACGG
AAGGCTCCCAGAACATCACCTACCACTGCAAGAACAGCATTGCCTATCTGGACGAAGCAGCTGGCAACCTCAAGAAGGCCCTGCTCATCC
AGGGCTCCAATGACGTGGAGATCCGGGCAGAGGGCAATAGCAGGTTCACGTACACTGCCCTGAAGGATGGCTGCACGAAACATACCGGTA
AGTGGGGCAAGACTGTTATCGAGTACCGGTCACAGAAGACCTCACGCCTCCCCATCATTGACATTGCACCCATGGACATAGGAGGGCCCG
AGCAGGAATTCGGTGTGGACATAGGGCCGGTCTGCTTCTTGTAAAAACCTGAACCCAGAAACAACACAATCCGTTGCAAACCCAAAGGAC
CCAAGTACTTTCCAATCTCAGTCACTCTAGGACTCTGCACTGAATGGCTGACCTGACCTGATGTCCATTCATCCCACCCTCTCACAGTTC
GGACTTTTCTCCCCTCTCTTTCTAAGAGACCTGAACTGGGCAGACTGCAAAATAAAATCTCGGTGTTCTATTTATTTATTGTCTTCCTGT
AAGACCTTCGGGTCAAGGCAGAGGCAGGAAACTAACTGGTGTGAGTCAAATGCCCCCTGAGTGACTGCCCCCAGCCCAGGCCAGAAGACC
TCCCTTCAGGTGCCGGGCGCAGGAACTGTGTGTGTCCTACACAATGGTGCTATTCTGTGTCAAACACCTCTGTATTTTTTAAAACATCAA

>7832_7832_1_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000308664_COL2A1_chr12_48378382_ENST00000380518_length(amino acids)=1464AA_BP=924
MIASRERGGGSGAAACPPGGRLRAREALPSGEGREGGSGAPNPPCGARGRARGGCLGEGARGDSAPGEAEAAARGGGESPSAPGLPGWHE
PAAGVRGGGEEAAGTGGEAGRAPEAMENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDLLVRIL
LLAACISFVLAWFEEGEETITAFVEPFVILLILVANAIVGVWQERNAENAIEALKEYEPEMGKVYRQDRKSVQRIKAKDIVPGDIVEIAV
GDKVPADIRLTSIKSTTLRVDQSILTGESVSVIKHTDPVPDPRAVNQDKKNMLFSGTNIAAGKAMGVVVATGVNTEIGKIRDEMVATEQE
RTPLQQKLDEFGEQLSKVISLICIAVWIINIGHFNDPVHGGSWIRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRS
LPSVETLGCTSVICSDKTGTLTTNQMSVCRMFILDRVEGDTCSLNEFTITGSTYAPIGEVHKDDKPVNCHQYDGLVELATICALCNDSAL
DYNEAKGVYEKVGEATETALTCLVEKMNVFDTELKGLSKIERANACNSGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGER
GEQGAPGPSGFQGLPGPPGPPGEGGKPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQ
GPPGLQGMPGERGAAGIAGPKGDRGDVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPA
GFAGPPGADGQPGAKGEQGEAGQKGDAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPS
GKDGPKGARGDSGPPGRAGEPGLQGPAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGAS
GDRGPPGPVGPPGLTGPAGEPGREGSPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPA
GARGIQGPQGPRGDKGEAGEPGERGLKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRS
GETGPAGPPGNPGPPGPPGPPGPGIDMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTC
RDLKLCHPEWKSGDYWIDPNQGCTLDAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANV
QMTFLRLLSTEGSQNITYHCKNSIAYLDEAAGNLKKALLIQGSNDVEIRAEGNSRFTYTALKDGCTKHTGKWGKTVIEYRSQKTSRLPII

--------------------------------------------------------------
>7832_7832_2_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000395494_COL2A1_chr12_48378382_ENST00000380518_length(transcript)=4974nt_BP=1901nt
GGCAGCGGCCGATAAATGCTATTAGAGCAGCCGCCGCGGAGCCGTCCCCGACGCCACCTCCTTTTCCTTCGCCGCAGTTTCCTCCGCCGC
TGTCGGGCGTGCGGCGCTGAGGGACCCGGGCGAGCGCGCCGCGCACCGCCCCGCCGGCTCGCCTCCCTCGCCGCGTTCCGCCCTCAGTGG
TCTGCCGGGCGCCCCCTCCTCCGGCCCGGGCGGGGCCTCTGATCGCCTCAAGAGAGCGGGGAGGGGGCTCGGGGGCCGCGGCCTGCCCTC
CCGGCGGGCGGCTGAGGGCGAGGGAGGCCCTCCCTTCTGGCGAGGGGAGGGAGGGTGGGTCAGGAGCCCCCAACCCGCCCTGCGGAGCTC
GGGGCCGCGCGAGGGGCGGTTGTCTGGGGGAGGGGGCGCGGGGTGATTCAGCGCCCGGCGAGGCGGAAGCGGCCGCAAGAGGAGGAGGGG
AGAGCCCGTCCGCGCCTGGGCTCCCGGGGTGGCACGAGCCCGCGGCCGGAGTGCGAGGCGGAGGCGAGGAGGCCGCGGGGACGGGAGGCG
AGGCCGGCCGGGCCCCCGAAGCCATGGAGAACGCGCACACCAAGACGGTGGAGGAGGTGCTGGGCCACTTCGGCGTCAACGAGAGTACGG
GGCTGAGCCTGGAACAGGTCAAGAAGCTTAAGGAGAGATGGGGCTCCAACGAGTTACCGGCTGAAGAAGGAAAAACCTTGCTGGAACTTG
TGATTGAGCAGTTTGAAGACTTGCTAGTTAGGATTTTATTACTGGCAGCATGTATATCTTTTGTTTTGGCTTGGTTTGAAGAAGGTGAAG
AAACAATTACAGCCTTTGTAGAACCTTTTGTAATTTTACTCATATTAGTAGCCAATGCAATTGTGGGTGTATGGCAGGAAAGAAATGCTG
AAAATGCCATCGAAGCCCTTAAGGAATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGAGTGTGCAGCGGATTAAAGCTA
AAGACATAGTTCCTGGTGATATTGTAGAAATTGCTGGTGAATCTGTCTCTGTCATCAAGCACACTGATCCCGTCCCTGACCCACGAGCTG
TCAACCAAGATAAAAAGAACATGCTGTTTTCTGGTACAAACATTGCTGCTGGGAAAGCTATGGGAGTGGTGGTAGCAACTGGAGTTAACA
CCGAAATTGGCAAGATCCGGGATGAAATGGTGGCAACAGAACAGGAGAGAACACCCCTTCAGCAAAAACTAGATGAATTTGGGGAACAGC
TTTCCAAAGTCATCTCCCTTATTTGCATTGCAGTCTGGATCATAAATATTGGGCACTTCAATGACCCGGTTCATGGAGGGTCCTGGATCA
GAGGTGCTATTTACTACTTTAAAATTGCAGTGGCCCTGGCTGTAGCAGCCATTCCTGAAGGTCTGCCTGCAGTCATCACCACCTGCCTGG
CTCTTGGAACTCGCAGAATGGCAAAGAAAAATGCCATTGTTCGAAGCCTCCCGTCTGTGGAAACCCTTGGTTGTACTTCTGTTATCTGCT
CAGACAAGACTGGTACACTTACAACAAACCAGATGTCAGTCTGCAGGATGTTCATTCTGGACAGAGTGGAAGGTGATACTTGTTCCCTTA
ATGAGTTTACCATAACTGGATCAACTTATGCACCTATTGGAGAAGTGCATAAAGATGATAAACCAGTGAATTGTCACCAGTATGATGGTC
TGGTAGAATTAGCAACAATTTGTGCTCTTTGTAATGACTCTGCTTTGGATTACAATGAGGCAAAGGGTGTGTATGAAAAAGTTGGAGAAG
CTACAGAGACTGCTCTCACTTGCCTAGTAGAGAAGATGAATGTATTTGATACCGAATTGAAGGGTCTTTCTAAAATAGAACGTGCAAATG
CCTGCAACTCAGGTGAGCCTGGCAAAGCTGGTGAGAAGGGACTGCCTGGTGCTCCTGGTCTGAGGGGTCTTCCTGGCAAAGATGGTGAGA
CAGGTGCTGCAGGACCCCCTGGCCCTGCTGGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTGGGTTCCAGGGACTTC
CTGGCCCTCCTGGTCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCA
GGGGTGAACGAGGTTTCCCAGGTGAACGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCACTCCTGGCACTG
ATGGTCCCAAAGGTGCATCTGGCCCAGCAGGCCCCCCTGGGGCTCAGGGCCCTCCAGGTCTTCAGGGAATGCCTGGCGAGAGGGGAGCAG
CTGGTATCGCTGGGCCCAAAGGCGACAGGGGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGAAAGGATGGTGGACGAGGCCTGA
CAGGTCCCATTGGCCCCCCTGGCCCAGCTGGTGCTAATGGCGAGAAGGGAGAAGTTGGACCTCCTGGTCCTGCAGGAAGTGCTGGTGCTC
GTGGCGCTCCGGGTGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCTGGTGCTGATGGCCAGCCTGGGGCCA
AGGGTGAGCAAGGAGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAGGGTCCTA
CTGGAGTGACTGGTCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGGAGCCACTGGATTCCCTGGAGCTGCTGGCCGCGTTGGACCCC
CAGGCTCCAATGGCAACCCTGGACCCCCTGGTCCCCCTGGTCCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAGACAGCGGCCCCC
CTGGCCGAGCTGGTGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCGAGAAGGGAGAGCCTGGAGATGACGGTCCCTCTGGTGCCG
AAGGTCCACCAGGTCCCCAGGGTCTGGCTGGTCAGAGAGGCATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGATTCCCTGGCTTGC
CTGGCCCGTCGGGTGAGCCCGGCAAGCAGGGTGCTCCTGGAGCATCTGGAGACAGAGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCTGA
CGGGTCCTGCAGGTGAACCTGGACGAGAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGGTGATC
GTGGTGAGACTGGTGCTGTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAACTGGCAAGCAAGGAGACA
GAGGAGAAGCTGGTGCACAAGGCCCCATGGGACCCTCAGGACCAGCTGGAGCCCGGGGAATCCAGGGTCCTCAAGGCCCCAGAGGTGACA
AAGGAGAGGCTGGAGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGTCTGCCCGGCCCTCCTGGTCCTT
CTGGAGACCAAGGTGCTTCTGGTCCTGCTGGTCCTTCTGGCCCTAGAGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTA
ATGGAATCCCTGGCCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGGTCCTCCTGGAAATCCTGGACCCC
CTGGTCCTCCAGGTCCCCCTGGCCCTGGCATCGACATGTCCGCCTTTGCTGGCTTAGGCCCGAGAGAGAAGGGCCCCGACCCCCTGCAGT
ACATGCGGGCCGACCAGGCAGCCGGTGGCCTGAGACAGCATGACGCCGAGGTGGATGCCACACTCAAGTCCCTCAACAACCAGATTGAGA
GCATCCGCAGCCCCGAGGGCTCCCGCAAGAACCCTGCTCGCACCTGCAGAGACCTGAAACTCTGCCACCCTGAGTGGAAGAGTGGAGACT
ACTGGATTGACCCCAACCAAGGCTGCACCTTGGACGCCATGAAGGTTTTCTGCAACATGGAGACTGGCGAGACTTGCGTCTACCCCAATC
CAGCAAACGTTCCCAAGAAGAACTGGTGGAGCAGCAAGAGCAAGGAGAAGAAACACATCTGGTTTGGAGAAACCATCAATGGTGGCTTCC
ATTTCAGCTATGGAGATGACAATCTGGCTCCCAACACTGCCAACGTCCAGATGACCTTCCTACGCCTGCTGTCCACGGAAGGCTCCCAGA
ACATCACCTACCACTGCAAGAACAGCATTGCCTATCTGGACGAAGCAGCTGGCAACCTCAAGAAGGCCCTGCTCATCCAGGGCTCCAATG
ACGTGGAGATCCGGGCAGAGGGCAATAGCAGGTTCACGTACACTGCCCTGAAGGATGGCTGCACGAAACATACCGGTAAGTGGGGCAAGA
CTGTTATCGAGTACCGGTCACAGAAGACCTCACGCCTCCCCATCATTGACATTGCACCCATGGACATAGGAGGGCCCGAGCAGGAATTCG
GTGTGGACATAGGGCCGGTCTGCTTCTTGTAAAAACCTGAACCCAGAAACAACACAATCCGTTGCAAACCCAAAGGACCCAAGTACTTTC
CAATCTCAGTCACTCTAGGACTCTGCACTGAATGGCTGACCTGACCTGATGTCCATTCATCCCACCCTCTCACAGTTCGGACTTTTCTCC
CCTCTCTTTCTAAGAGACCTGAACTGGGCAGACTGCAAAATAAAATCTCGGTGTTCTATTTATTTATTGTCTTCCTGTAAGACCTTCGGG
TCAAGGCAGAGGCAGGAAACTAACTGGTGTGAGTCAAATGCCCCCTGAGTGACTGCCCCCAGCCCAGGCCAGAAGACCTCCCTTCAGGTG
CCGGGCGCAGGAACTGTGTGTGTCCTACACAATGGTGCTATTCTGTGTCAAACACCTCTGTATTTTTTAAAACATCAATTGATATTAAAA

>7832_7832_2_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000395494_COL2A1_chr12_48378382_ENST00000380518_length(amino acids)=1437AA_BP=897
MIASRERGGGSGAAACPPGGRLRAREALPSGEGREGGSGAPNPPCGARGRARGGCLGEGARGDSAPGEAEAAARGGGESPSAPGLPGWHE
PAAGVRGGGEEAAGTGGEAGRAPEAMENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDLLVRIL
LLAACISFVLAWFEEGEETITAFVEPFVILLILVANAIVGVWQERNAENAIEALKEYEPEMGKVYRQDRKSVQRIKAKDIVPGDIVEIAG
ESVSVIKHTDPVPDPRAVNQDKKNMLFSGTNIAAGKAMGVVVATGVNTEIGKIRDEMVATEQERTPLQQKLDEFGEQLSKVISLICIAVW
IINIGHFNDPVHGGSWIRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQMS
VCRMFILDRVEGDTCSLNEFTITGSTYAPIGEVHKDDKPVNCHQYDGLVELATICALCNDSALDYNEAKGVYEKVGEATETALTCLVEKM
NVFDTELKGLSKIERANACNSGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGGKP
GDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRGDV
GEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKGDA
GAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQGPA
GPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREGSP
GADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERGLK
GHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGIDM
SAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTLDA
MKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIAYL

--------------------------------------------------------------
>7832_7832_3_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000539276_COL2A1_chr12_48378382_ENST00000380518_length(transcript)=4601nt_BP=1528nt
CCCGTCCGCGCCTGGGCTCCCGGGGTGGCACGAGCCCGCGGCCGGAGTGCGAGGCGGAGGCGAGGAGGCCGCGGGGACGGGAGGCGAGGC
CGGCCGGGCCCCCGAAGCCATGGAGAACGCGCACACCAAGACGGTGGAGGAGGTGCTGGGCCACTTCGGCGTCAACGAGAGTACGGGGCT
GAGCCTGGAACAGGTCAAGAAGCTTAAGGAGAGATGGGGCTCCAACGAGTTACCGGCTGAAGAAGGAAAAACCTTGCTGGAACTTGTGAT
TGAGCAGTTTGAAGACTTGCTAGTTAGGATTTTATTACTGGCAGCATGTATATCTTTTGTTTTGGCTTGGTTTGAAGAAGGTGAAGAAAC
AATTACAGCCTTTGTAGAACCTTTTGTAATTTTACTCATATTAGTAGCCAATGCAATTGTGGGTGTATGGCAGGAAAGAAATGCTGAAAA
TGCCATCGAAGCCCTTAAGGAATATGAGCCTGAAATGGGCAAAGTGTATCGACAGGACAGAAAGAGTGTGCAGCGGATTAAAGCTAAAGA
CATAGTTCCTGGTGATATTGTAGAAATTGCTGTTGGTGACAAAGTTCCTGCTGATATAAGGTTAACTTCCATCAAATCTACCACACTAAG
AGTTGACCAGTCAATTCTCACAGGTGAATCTGTCTCTGTCATCAAGCACACTGATCCCGTCCCTGACCCACGAGCTGTCAACCAAGATAA
AAAGAACATGCTGTTTTCTGGTACAAACATTGCTGCTGGGAAAGCTATGGGAGTGGTGGTAGCAACTGGAGTTAACACCGAAATTGGCAA
GATCCGGGATGAAATGGTGGCAACAGAACAGGAGAGAACACCCCTTCAGCAAAAACTAGATGAATTTGGGGAACAGCTTTCCAAAGTCAT
CTCCCTTATTTGCATTGCAGTCTGGATCATAAATATTGGGCACTTCAATGACCCGGTTCATGGAGGGTCCTGGATCAGAGGTGCTATTTA
CTACTTTAAAATTGCAGTGGCCCTGGCTGTAGCAGCCATTCCTGAAGGTCTGCCTGCAGTCATCACCACCTGCCTGGCTCTTGGAACTCG
CAGAATGGCAAAGAAAAATGCCATTGTTCGAAGCCTCCCGTCTGTGGAAACCCTTGGTTGTACTTCTGTTATCTGCTCAGACAAGACTGG
TACACTTACAACAAACCAGATGTCAGTCTGCAGGATGTTCATTCTGGACAGAGTGGAAGGTGATACTTGTTCCCTTAATGAGTTTACCAT
AACTGGATCAACTTATGCACCTATTGGAGAAGTGCATAAAGATGATAAACCAGTGAATTGTCACCAGTATGATGGTCTGGTAGAATTAGC
AACAATTTGTGCTCTTTGTAATGACTCTGCTTTGGATTACAATGAGGCAAAGGGTGTGTATGAAAAAGTTGGAGAAGCTACAGAGACTGC
TCTCACTTGCCTAGTAGAGAAGATGAATGTATTTGATACCGAATTGAAGGGTCTTTCTAAAATAGAACGTGCAAATGCCTGCAACTCAGG
TGAGCCTGGCAAAGCTGGTGAGAAGGGACTGCCTGGTGCTCCTGGTCTGAGGGGTCTTCCTGGCAAAGATGGTGAGACAGGTGCTGCAGG
ACCCCCTGGCCCTGCTGGACCTGCTGGTGAACGAGGCGAGCAGGGTGCTCCTGGGCCATCTGGGTTCCAGGGACTTCCTGGCCCTCCTGG
TCCCCCAGGTGAAGGTGGAAAACCAGGTGACCAGGGTGTTCCCGGTGAAGCTGGAGCCCCTGGCCTCGTGGGTCCCAGGGGTGAACGAGG
TTTCCCAGGTGAACGTGGCTCTCCCGGTGCCCAGGGCCTCCAGGGTCCCCGTGGCCTCCCCGGCACTCCTGGCACTGATGGTCCCAAAGG
TGCATCTGGCCCAGCAGGCCCCCCTGGGGCTCAGGGCCCTCCAGGTCTTCAGGGAATGCCTGGCGAGAGGGGAGCAGCTGGTATCGCTGG
GCCCAAAGGCGACAGGGGTGACGTTGGTGAGAAAGGCCCTGAGGGAGCCCCTGGAAAGGATGGTGGACGAGGCCTGACAGGTCCCATTGG
CCCCCCTGGCCCAGCTGGTGCTAATGGCGAGAAGGGAGAAGTTGGACCTCCTGGTCCTGCAGGAAGTGCTGGTGCTCGTGGCGCTCCGGG
TGAACGTGGAGAGACTGGGCCCCCCGGACCAGCGGGATTTGCTGGGCCTCCTGGTGCTGATGGCCAGCCTGGGGCCAAGGGTGAGCAAGG
AGAGGCCGGCCAGAAAGGCGATGCTGGTGCCCCTGGTCCTCAGGGCCCCTCTGGAGCACCTGGGCCTCAGGGTCCTACTGGAGTGACTGG
TCCTAAAGGAGCCCGAGGTGCCCAAGGCCCCCCGGGAGCCACTGGATTCCCTGGAGCTGCTGGCCGCGTTGGACCCCCAGGCTCCAATGG
CAACCCTGGACCCCCTGGTCCCCCTGGTCCTTCTGGAAAAGATGGTCCCAAAGGTGCTCGAGGAGACAGCGGCCCCCCTGGCCGAGCTGG
TGAACCCGGCCTCCAAGGTCCTGCTGGACCCCCTGGCGAGAAGGGAGAGCCTGGAGATGACGGTCCCTCTGGTGCCGAAGGTCCACCAGG
TCCCCAGGGTCTGGCTGGTCAGAGAGGCATCGTCGGTCTGCCTGGGCAACGTGGTGAGAGAGGATTCCCTGGCTTGCCTGGCCCGTCGGG
TGAGCCCGGCAAGCAGGGTGCTCCTGGAGCATCTGGAGACAGAGGTCCTCCTGGCCCCGTGGGTCCTCCTGGCCTGACGGGTCCTGCAGG
TGAACCTGGACGAGAGGGAAGCCCCGGTGCTGATGGCCCCCCTGGCAGAGATGGCGCTGCTGGAGTCAAGGGTGATCGTGGTGAGACTGG
TGCTGTGGGAGCTCCTGGAGCCCCTGGGCCCCCTGGCTCCCCTGGCCCCGCTGGTCCAACTGGCAAGCAAGGAGACAGAGGAGAAGCTGG
TGCACAAGGCCCCATGGGACCCTCAGGACCAGCTGGAGCCCGGGGAATCCAGGGTCCTCAAGGCCCCAGAGGTGACAAAGGAGAGGCTGG
AGAGCCTGGCGAGAGAGGCCTGAAGGGACACCGTGGCTTCACTGGTCTGCAGGGTCTGCCCGGCCCTCCTGGTCCTTCTGGAGACCAAGG
TGCTTCTGGTCCTGCTGGTCCTTCTGGCCCTAGAGGTCCTCCTGGCCCCGTCGGTCCCTCTGGCAAAGATGGTGCTAATGGAATCCCTGG
CCCCATTGGGCCTCCTGGTCCCCGTGGACGATCAGGCGAAACCGGCCCTGCTGGTCCTCCTGGAAATCCTGGACCCCCTGGTCCTCCAGG
TCCCCCTGGCCCTGGCATCGACATGTCCGCCTTTGCTGGCTTAGGCCCGAGAGAGAAGGGCCCCGACCCCCTGCAGTACATGCGGGCCGA
CCAGGCAGCCGGTGGCCTGAGACAGCATGACGCCGAGGTGGATGCCACACTCAAGTCCCTCAACAACCAGATTGAGAGCATCCGCAGCCC
CGAGGGCTCCCGCAAGAACCCTGCTCGCACCTGCAGAGACCTGAAACTCTGCCACCCTGAGTGGAAGAGTGGAGACTACTGGATTGACCC
CAACCAAGGCTGCACCTTGGACGCCATGAAGGTTTTCTGCAACATGGAGACTGGCGAGACTTGCGTCTACCCCAATCCAGCAAACGTTCC
CAAGAAGAACTGGTGGAGCAGCAAGAGCAAGGAGAAGAAACACATCTGGTTTGGAGAAACCATCAATGGTGGCTTCCATTTCAGCTATGG
AGATGACAATCTGGCTCCCAACACTGCCAACGTCCAGATGACCTTCCTACGCCTGCTGTCCACGGAAGGCTCCCAGAACATCACCTACCA
CTGCAAGAACAGCATTGCCTATCTGGACGAAGCAGCTGGCAACCTCAAGAAGGCCCTGCTCATCCAGGGCTCCAATGACGTGGAGATCCG
GGCAGAGGGCAATAGCAGGTTCACGTACACTGCCCTGAAGGATGGCTGCACGAAACATACCGGTAAGTGGGGCAAGACTGTTATCGAGTA
CCGGTCACAGAAGACCTCACGCCTCCCCATCATTGACATTGCACCCATGGACATAGGAGGGCCCGAGCAGGAATTCGGTGTGGACATAGG
GCCGGTCTGCTTCTTGTAAAAACCTGAACCCAGAAACAACACAATCCGTTGCAAACCCAAAGGACCCAAGTACTTTCCAATCTCAGTCAC
TCTAGGACTCTGCACTGAATGGCTGACCTGACCTGATGTCCATTCATCCCACCCTCTCACAGTTCGGACTTTTCTCCCCTCTCTTTCTAA
GAGACCTGAACTGGGCAGACTGCAAAATAAAATCTCGGTGTTCTATTTATTTATTGTCTTCCTGTAAGACCTTCGGGTCAAGGCAGAGGC
AGGAAACTAACTGGTGTGAGTCAAATGCCCCCTGAGTGACTGCCCCCAGCCCAGGCCAGAAGACCTCCCTTCAGGTGCCGGGCGCAGGAA
CTGTGTGTGTCCTACACAATGGTGCTATTCTGTGTCAAACACCTCTGTATTTTTTAAAACATCAATTGATATTAAAAATGAAAAGATTAT

>7832_7832_3_ATP2A2-COL2A1_ATP2A2_chr12_110771948_ENST00000539276_COL2A1_chr12_48378382_ENST00000380518_length(amino acids)=1349AA_BP=809
MENAHTKTVEEVLGHFGVNESTGLSLEQVKKLKERWGSNELPAEEGKTLLELVIEQFEDLLVRILLLAACISFVLAWFEEGEETITAFVE
PFVILLILVANAIVGVWQERNAENAIEALKEYEPEMGKVYRQDRKSVQRIKAKDIVPGDIVEIAVGDKVPADIRLTSIKSTTLRVDQSIL
TGESVSVIKHTDPVPDPRAVNQDKKNMLFSGTNIAAGKAMGVVVATGVNTEIGKIRDEMVATEQERTPLQQKLDEFGEQLSKVISLICIA
VWIINIGHFNDPVHGGSWIRGAIYYFKIAVALAVAAIPEGLPAVITTCLALGTRRMAKKNAIVRSLPSVETLGCTSVICSDKTGTLTTNQ
MSVCRMFILDRVEGDTCSLNEFTITGSTYAPIGEVHKDDKPVNCHQYDGLVELATICALCNDSALDYNEAKGVYEKVGEATETALTCLVE
KMNVFDTELKGLSKIERANACNSGEPGKAGEKGLPGAPGLRGLPGKDGETGAAGPPGPAGPAGERGEQGAPGPSGFQGLPGPPGPPGEGG
KPGDQGVPGEAGAPGLVGPRGERGFPGERGSPGAQGLQGPRGLPGTPGTDGPKGASGPAGPPGAQGPPGLQGMPGERGAAGIAGPKGDRG
DVGEKGPEGAPGKDGGRGLTGPIGPPGPAGANGEKGEVGPPGPAGSAGARGAPGERGETGPPGPAGFAGPPGADGQPGAKGEQGEAGQKG
DAGAPGPQGPSGAPGPQGPTGVTGPKGARGAQGPPGATGFPGAAGRVGPPGSNGNPGPPGPPGPSGKDGPKGARGDSGPPGRAGEPGLQG
PAGPPGEKGEPGDDGPSGAEGPPGPQGLAGQRGIVGLPGQRGERGFPGLPGPSGEPGKQGAPGASGDRGPPGPVGPPGLTGPAGEPGREG
SPGADGPPGRDGAAGVKGDRGETGAVGAPGAPGPPGSPGPAGPTGKQGDRGEAGAQGPMGPSGPAGARGIQGPQGPRGDKGEAGEPGERG
LKGHRGFTGLQGLPGPPGPSGDQGASGPAGPSGPRGPPGPVGPSGKDGANGIPGPIGPPGPRGRSGETGPAGPPGNPGPPGPPGPPGPGI
DMSAFAGLGPREKGPDPLQYMRADQAAGGLRQHDAEVDATLKSLNNQIESIRSPEGSRKNPARTCRDLKLCHPEWKSGDYWIDPNQGCTL
DAMKVFCNMETGETCVYPNPANVPKKNWWSSKSKEKKHIWFGETINGGFHFSYGDDNLAPNTANVQMTFLRLLSTEGSQNITYHCKNSIA

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Fusion Gene PPI Analysis for ATP2A2-COL2A1


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
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121575_594473.0998.0HAX1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019575_594446.01016.0HAX1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120575_594473.01043.0HAX1
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121787_807473.0998.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121931_942473.0998.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019787_807446.01016.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019931_942446.01016.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120787_807473.01043.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120931_942473.01043.0PLN
HgeneATP2A2chr12:110771948chr12:48378382ENST00000308664+1121788_1042473.0998.0TMEM64 and PDIA3
HgeneATP2A2chr12:110771948chr12:48378382ENST00000395494+1019788_1042446.01016.0TMEM64 and PDIA3
HgeneATP2A2chr12:110771948chr12:48378382ENST00000539276+1120788_1042473.01043.0TMEM64 and PDIA3


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 ATP2A2-COL2A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL2A1P02458DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational

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Related Diseases for ATP2A2-COL2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2A2C0022595Keratosis Follicularis12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP2A2C0265971Acrokeratosis Verruciformis of Hopf3CTD_human;ORPHANET;UNIPROT
HgeneATP2A2C0011570Mental Depression2PSYGENET
HgeneATP2A2C0011581Depressive disorder2PSYGENET
HgeneATP2A2C0473575Acantholytic Dyskeratotic Epidermal Nevus2CTD_human
HgeneATP2A2C0525045Mood Disorders2PSYGENET
HgeneATP2A2C0002152Alloxan Diabetes1CTD_human
HgeneATP2A2C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneATP2A2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneATP2A2C0018799Heart Diseases1CTD_human
HgeneATP2A2C0018800Cardiomegaly1CTD_human
HgeneATP2A2C0018801Heart failure1CTD_human
HgeneATP2A2C0018802Congestive heart failure1CTD_human;GENOMICS_ENGLAND
HgeneATP2A2C0023212Left-Sided Heart Failure1CTD_human
HgeneATP2A2C0027055Myocardial Reperfusion Injury1CTD_human
HgeneATP2A2C0036341Schizophrenia1PSYGENET
HgeneATP2A2C0038220Status Epilepticus1CTD_human
HgeneATP2A2C0038433Streptozotocin Diabetes1CTD_human
HgeneATP2A2C0206145Stunned Myocardium1CTD_human
HgeneATP2A2C0206146Myocardial Stunning1CTD_human
HgeneATP2A2C0235527Heart Failure, Right-Sided1CTD_human
HgeneATP2A2C0242698Ventricular Dysfunction, Left1CTD_human
HgeneATP2A2C0270823Petit mal status1CTD_human
HgeneATP2A2C0311335Grand Mal Status Epilepticus1CTD_human
HgeneATP2A2C0376416Hibernation, Myocardial1CTD_human
HgeneATP2A2C0393734Complex Partial Status Epilepticus1CTD_human
HgeneATP2A2C0751522Status Epilepticus, Subclinical1CTD_human
HgeneATP2A2C0751523Non-Convulsive Status Epilepticus1CTD_human
HgeneATP2A2C0751524Simple Partial Status Epilepticus1CTD_human
HgeneATP2A2C0853897Diabetic Cardiomyopathies1CTD_human
HgeneATP2A2C1383860Cardiac Hypertrophy1CTD_human
HgeneATP2A2C1959583Myocardial Failure1CTD_human
HgeneATP2A2C1961112Heart Decompensation1CTD_human
TgeneC0220685Achondrogenesis type 213CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2745959Spondyloepiphyseal dysplasia, congenita12CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0003865Arthritis, Adjuvant-Induced9CTD_human
TgeneC0265279Kniest dysplasia9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0971858Arthritis, Collagen-Induced9CTD_human
TgeneC0993582Arthritis, Experimental9CTD_human
TgeneC1836080Stickler Syndrome, Type I, Nonsyndromic Ocular8CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1835437Platyspondylic Lethal Skeletal Dysplasia, Torrance Type6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1836683Czech dysplasia, metatarsal type6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2020284Stickler syndrome, type 16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0432214Namaqualand hip dysplasia5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0700635Strudwick syndrome5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4225273SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE5CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0013604Edema4CTD_human
TgeneC0151603Anasarca4CTD_human
TgeneC0796173Spondyloperipheral dysplasia short ulna4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC4551562AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 14GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0003864Arthritis3CTD_human
TgeneC0023234Legg-Calve-Perthes Disease3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0162323Polyarthritis3CTD_human
TgeneC1851536Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0003873Rheumatoid Arthritis2CTD_human
TgeneC0008925Cleft Palate2CTD_human;GENOMICS_ENGLAND
TgeneC0021368Inflammation2CTD_human
TgeneC0029408Degenerative polyarthritis2CTD_human
TgeneC0041834Erythema2CTD_human
TgeneC0086743Osteoarthrosis Deformans2CTD_human
TgeneC0376634Craniofacial Abnormalities2CTD_human
TgeneC1262477Weight decreased2CTD_human
TgeneC1852989Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia2GENOMICS_ENGLAND
TgeneC1861481Stickler syndrome, type 32ORPHANET
TgeneC4302548Dysspondyloenchondromatosis2ORPHANET
TgeneC4520892Otospondylomegaepiphyseal dysplasia2CTD_human;GENOMICS_ENGLAND
TgeneC0005974Bone Resorption1CTD_human
TgeneC0007302Cartilage Diseases1CTD_human
TgeneC0008479Chondrosarcoma1CTD_human
TgeneC0013366Dyschondroplasias1CTD_human
TgeneC0015397Disorder of eye1GENOMICS_ENGLAND
TgeneC0018784Sensorineural Hearing Loss (disorder)1CTD_human
TgeneC0020507Hyperplasia1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0025237Melnick-Needles Syndrome1CTD_human
TgeneC0026760Multiple Epiphyseal Dysplasia1CTD_human
TgeneC0027092Myopia1CTD_human
TgeneC0029422Osteochondrodysplasias1CTD_human
TgeneC0035305Retinal Detachment1CTD_human
TgeneC0036391Schwartz-Jampel Syndrome1CTD_human
TgeneC0038015Spondyloepiphyseal Dysplasia1CTD_human
TgeneC0039103Synovitis1CTD_human
TgeneC0085700Chondromalacia1CTD_human
TgeneC0086543Cataract1CTD_human
TgeneC0339546Retinal Pigment Epithelial Detachment1CTD_human
TgeneC0410480Avascular Necrosis of Femur Head1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0410574Synovial Hypertrophy1CTD_human
TgeneC0432221Spondylometaphyseal dysplasia, 'corner fracture' type1ORPHANET
TgeneC0432272Van Buchem disease1CTD_human
TgeneC0524524Pseudoaphakia1CTD_human
TgeneC0542428Hypochondrogenesis1ORPHANET
TgeneC1510497Lens Opacities1CTD_human
TgeneC1691779Sensory hearing loss1CTD_human
TgeneC1836081RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT1ORPHANET
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1840452Hyaloideoretinal degeneration of Wagner1CTD_human
TgeneC1855310Megaepiphyseal dwarfism1CTD_human
TgeneC1866688Spondylometaphyseal dysplasia, Algerian type1ORPHANET
TgeneC3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked1CTD_human
TgeneC4479260AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 21ORPHANET
TgeneC4551479Schwartz-Jampel Syndrome, Type 11CTD_human