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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:ATP2A2-COL2A1 (FusionGDB2 ID:HG488TG1280) |
Fusion Gene Summary for ATP2A2-COL2A1 |
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Fusion gene information | Fusion gene name: ATP2A2-COL2A1 | Fusion gene ID: hg488tg1280 | Hgene | Tgene | Gene symbol | ATP2A2 | COL2A1 | Gene ID | 488 | 1280 |
Gene name | ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | collagen type II alpha 1 chain | |
Synonyms | ATP2B|DAR|DD|SERCA2 | ANFH|AOM|COL11A3|SEDC|STL1 | |
Cytomap | ('ATP2A2')('COL2A1') 12q24.11 | 12q13.11 | |
Type of gene | protein-coding | protein-coding | |
Description | sarcoplasmic/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, slow | collagen alpha-1(II) chainalpha-1 type II collagenarthroophthalmopathy, progressive (Stickler syndrome)cartilage collagenchondrocalcincollagen II, alpha-1 polypeptidecollagen, type II, alpha 1 | |
Modification date | 20200313 | 20200328 | |
UniProtAcc | . | P02458 | |
Ensembl transtripts involved in fusion gene | ENST00000308664, ENST00000395494, ENST00000539276, ENST00000550248, ENST00000552636, | ||
Fusion gene scores | * DoF score | 17 X 22 X 11=4114 | 8 X 9 X 4=288 |
# samples | 27 | 10 | |
** MAII score | log2(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 breakpoint | ATP2A2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATP2A2 | GO:0032469 | endoplasmic reticulum calcium ion homeostasis | 16402920 |
Hgene | ATP2A2 | GO:0032470 | positive regulation of endoplasmic reticulum calcium ion concentration | 16402920 |
Hgene | ATP2A2 | GO:0070588 | calcium ion transmembrane transport | 16402920 |
Hgene | ATP2A2 | GO:1903515 | calcium ion transport from cytosol to endoplasmic reticulum | 16402920 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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 | SARC | TCGA-3B-A9HL-01A | ATP2A2 | chr12 | 110771948 | - | COL2A1 | chr12 | 48378382 | - |
ChimerDB4 | SARC | TCGA-3B-A9HL-01A | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
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Fusion Gene ORF analysis for ATP2A2-COL2A1 |
![]() * 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-5UTR | ENST00000308664 | ENST00000337299 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
5CDS-5UTR | ENST00000308664 | ENST00000493991 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
5CDS-5UTR | ENST00000395494 | ENST00000337299 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
5CDS-5UTR | ENST00000395494 | ENST00000493991 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
5CDS-5UTR | ENST00000539276 | ENST00000337299 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
5CDS-5UTR | ENST00000539276 | ENST00000493991 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
In-frame | ENST00000308664 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
In-frame | ENST00000395494 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
In-frame | ENST00000539276 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-3CDS | ENST00000550248 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-3CDS | ENST00000552636 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-5UTR | ENST00000550248 | ENST00000337299 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-5UTR | ENST00000550248 | ENST00000493991 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-5UTR | ENST00000552636 | ENST00000337299 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
intron-5UTR | ENST00000552636 | ENST00000493991 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - |
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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) |
ENST00000308664 | ATP2A2 | chr12 | 110771948 | + | ENST00000380518 | COL2A1 | chr12 | 48378382 | - | 5166 | 2093 | 329 | 4723 | 1464 |
ENST00000395494 | ATP2A2 | chr12 | 110771948 | + | ENST00000380518 | COL2A1 | chr12 | 48378382 | - | 4974 | 1901 | 218 | 4531 | 1437 |
ENST00000539276 | ATP2A2 | chr12 | 110771948 | + | ENST00000380518 | COL2A1 | chr12 | 48378382 | - | 4601 | 1528 | 109 | 4158 | 1349 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000308664 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - | 0.00177949 | 0.9982205 |
ENST00000395494 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - | 0.001741597 | 0.9982584 |
ENST00000539276 | ENST00000380518 | ATP2A2 | chr12 | 110771948 | + | COL2A1 | chr12 | 48378382 | - | 0.001029352 | 0.9989706 |
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Fusion Genomic Features for ATP2A2-COL2A1 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ATP2A2-COL2A1 |
![]() 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. |
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Hgene | Tgene |
. | COL2A1 |
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. |
![]() * 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 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 111_253 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 1_48 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 274_295 | 473 | 998.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 70_89 | 473 | 998.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 111_253 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 1_48 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 274_295 | 446 | 1016.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 70_89 | 446 | 1016.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 111_253 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 1_48 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 274_295 | 473 | 1043.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 70_89 | 473 | 1043.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 254_273 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 296_313 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 49_69 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 90_110 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 254_273 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 296_313 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 49_69 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 90_110 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D2 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 254_273 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D3 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 296_313 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D4 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 49_69 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 90_110 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D2 |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000337299 | 25 | 53 | 1253_1487 | 542 | 1419.0 | Domain | Fibrillar collagen NC1 | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000380518 | 26 | 54 | 1253_1487 | 611 | 1488.0 | Domain | Fibrillar collagen NC1 | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000337299 | 25 | 53 | 1215_1241 | 542 | 1419.0 | Region | Note=Nonhelical region (C-terminal) | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000380518 | 26 | 54 | 1215_1241 | 611 | 1488.0 | Region | Note=Nonhelical region (C-terminal) |
- 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 | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 314_756 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 777_786 | 473 | 998.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 808_827 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 851_896 | 473 | 998.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 917_929 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 949_963 | 473 | 998.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 985_1042 | 473 | 998.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 314_756 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 777_786 | 446 | 1016.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 808_827 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 851_896 | 446 | 1016.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 917_929 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 949_963 | 446 | 1016.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 985_1042 | 446 | 1016.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 314_756 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 777_786 | 473 | 1043.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 808_827 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 851_896 | 473 | 1043.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 917_929 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 949_963 | 473 | 1043.0 | Topological domain | Lumenal |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 985_1042 | 473 | 1043.0 | Topological domain | Cytoplasmic |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 757_776 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 828_850 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D7 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 897_916 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D8 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 930_948 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D9 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 964_984 | 473 | 998.0 | Transmembrane | Helical%3B Name%3D10 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 757_776 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 828_850 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D7 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 897_916 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D8 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 930_948 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D9 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 964_984 | 446 | 1016.0 | Transmembrane | Helical%3B Name%3D10 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 757_776 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D5 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 828_850 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D7 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 897_916 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D8 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 930_948 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D9 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 964_984 | 473 | 1043.0 | Transmembrane | Helical%3B Name%3D10 |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000337299 | 25 | 53 | 32_90 | 542 | 1419.0 | Domain | VWFC | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000380518 | 26 | 54 | 32_90 | 611 | 1488.0 | Domain | VWFC | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000337299 | 25 | 53 | 201_1214 | 542 | 1419.0 | Region | Note=Triple-helical region | |
Tgene | COL2A1 | chr12:110771948 | chr12:48378382 | ENST00000380518 | 26 | 54 | 201_1214 | 611 | 1488.0 | Region | Note=Triple-helical region |
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Fusion Gene Sequence for ATP2A2-COL2A1 |
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>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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 575_594 | 473.0 | 998.0 | HAX1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 575_594 | 446.0 | 1016.0 | HAX1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 575_594 | 473.0 | 1043.0 | HAX1 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 787_807 | 473.0 | 998.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 931_942 | 473.0 | 998.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 787_807 | 446.0 | 1016.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 931_942 | 446.0 | 1016.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 787_807 | 473.0 | 1043.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 931_942 | 473.0 | 1043.0 | PLN |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000308664 | + | 11 | 21 | 788_1042 | 473.0 | 998.0 | TMEM64 and PDIA3 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000395494 | + | 10 | 19 | 788_1042 | 446.0 | 1016.0 | TMEM64 and PDIA3 |
Hgene | ATP2A2 | chr12:110771948 | chr12:48378382 | ENST00000539276 | + | 11 | 20 | 788_1042 | 473.0 | 1043.0 | TMEM64 and PDIA3 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ATP2A2-COL2A1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | COL2A1 | P02458 | DB00048 | Collagenase clostridium histolyticum | Binder | Biotech | Approved|Investigational |
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Related Diseases for ATP2A2-COL2A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP2A2 | C0022595 | Keratosis Follicularis | 12 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ATP2A2 | C0265971 | Acrokeratosis Verruciformis of Hopf | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATP2A2 | C0011570 | Mental Depression | 2 | PSYGENET |
Hgene | ATP2A2 | C0011581 | Depressive disorder | 2 | PSYGENET |
Hgene | ATP2A2 | C0473575 | Acantholytic Dyskeratotic Epidermal Nevus | 2 | CTD_human |
Hgene | ATP2A2 | C0525045 | Mood Disorders | 2 | PSYGENET |
Hgene | ATP2A2 | C0002152 | Alloxan Diabetes | 1 | CTD_human |
Hgene | ATP2A2 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
Hgene | ATP2A2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | ATP2A2 | C0018799 | Heart Diseases | 1 | CTD_human |
Hgene | ATP2A2 | C0018800 | Cardiomegaly | 1 | CTD_human |
Hgene | ATP2A2 | C0018801 | Heart failure | 1 | CTD_human |
Hgene | ATP2A2 | C0018802 | Congestive heart failure | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | ATP2A2 | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Hgene | ATP2A2 | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human |
Hgene | ATP2A2 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ATP2A2 | C0038220 | Status Epilepticus | 1 | CTD_human |
Hgene | ATP2A2 | C0038433 | Streptozotocin Diabetes | 1 | CTD_human |
Hgene | ATP2A2 | C0206145 | Stunned Myocardium | 1 | CTD_human |
Hgene | ATP2A2 | C0206146 | Myocardial Stunning | 1 | CTD_human |
Hgene | ATP2A2 | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Hgene | ATP2A2 | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
Hgene | ATP2A2 | C0270823 | Petit mal status | 1 | CTD_human |
Hgene | ATP2A2 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
Hgene | ATP2A2 | C0376416 | Hibernation, Myocardial | 1 | CTD_human |
Hgene | ATP2A2 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
Hgene | ATP2A2 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
Hgene | ATP2A2 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
Hgene | ATP2A2 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
Hgene | ATP2A2 | C0853897 | Diabetic Cardiomyopathies | 1 | CTD_human |
Hgene | ATP2A2 | C1383860 | Cardiac Hypertrophy | 1 | CTD_human |
Hgene | ATP2A2 | C1959583 | Myocardial Failure | 1 | CTD_human |
Hgene | ATP2A2 | C1961112 | Heart Decompensation | 1 | CTD_human |
Tgene | C0220685 | Achondrogenesis type 2 | 13 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C2745959 | Spondyloepiphyseal dysplasia, congenita | 12 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0003865 | Arthritis, Adjuvant-Induced | 9 | CTD_human | |
Tgene | C0265279 | Kniest dysplasia | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0971858 | Arthritis, Collagen-Induced | 9 | CTD_human | |
Tgene | C0993582 | Arthritis, Experimental | 9 | CTD_human | |
Tgene | C1836080 | Stickler Syndrome, Type I, Nonsyndromic Ocular | 8 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1835437 | Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1836683 | Czech dysplasia, metatarsal type | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C2020284 | Stickler syndrome, type 1 | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0432214 | Namaqualand hip dysplasia | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0700635 | Strudwick syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C4225273 | SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE | 5 | CLINGEN;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0013604 | Edema | 4 | CTD_human | |
Tgene | C0151603 | Anasarca | 4 | CTD_human | |
Tgene | C0796173 | Spondyloperipheral dysplasia short ulna | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4551562 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 | 4 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0003864 | Arthritis | 3 | CTD_human | |
Tgene | C0023234 | Legg-Calve-Perthes Disease | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0162323 | Polyarthritis | 3 | CTD_human | |
Tgene | C1851536 | Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0003873 | Rheumatoid Arthritis | 2 | CTD_human | |
Tgene | C0008925 | Cleft Palate | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0021368 | Inflammation | 2 | CTD_human | |
Tgene | C0029408 | Degenerative polyarthritis | 2 | CTD_human | |
Tgene | C0041834 | Erythema | 2 | CTD_human | |
Tgene | C0086743 | Osteoarthrosis Deformans | 2 | CTD_human | |
Tgene | C0376634 | Craniofacial Abnormalities | 2 | CTD_human | |
Tgene | C1262477 | Weight decreased | 2 | CTD_human | |
Tgene | C1852989 | Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia | 2 | GENOMICS_ENGLAND | |
Tgene | C1861481 | Stickler syndrome, type 3 | 2 | ORPHANET | |
Tgene | C4302548 | Dysspondyloenchondromatosis | 2 | ORPHANET | |
Tgene | C4520892 | Otospondylomegaepiphyseal dysplasia | 2 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0005974 | Bone Resorption | 1 | CTD_human | |
Tgene | C0007302 | Cartilage Diseases | 1 | CTD_human | |
Tgene | C0008479 | Chondrosarcoma | 1 | CTD_human | |
Tgene | C0013366 | Dyschondroplasias | 1 | CTD_human | |
Tgene | C0015397 | Disorder of eye | 1 | GENOMICS_ENGLAND | |
Tgene | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human | |
Tgene | C0020507 | Hyperplasia | 1 | CTD_human | |
Tgene | C0025202 | melanoma | 1 | CTD_human | |
Tgene | C0025237 | Melnick-Needles Syndrome | 1 | CTD_human | |
Tgene | C0026760 | Multiple Epiphyseal Dysplasia | 1 | CTD_human | |
Tgene | C0027092 | Myopia | 1 | CTD_human | |
Tgene | C0029422 | Osteochondrodysplasias | 1 | CTD_human | |
Tgene | C0035305 | Retinal Detachment | 1 | CTD_human | |
Tgene | C0036391 | Schwartz-Jampel Syndrome | 1 | CTD_human | |
Tgene | C0038015 | Spondyloepiphyseal Dysplasia | 1 | CTD_human | |
Tgene | C0039103 | Synovitis | 1 | CTD_human | |
Tgene | C0085700 | Chondromalacia | 1 | CTD_human | |
Tgene | C0086543 | Cataract | 1 | CTD_human | |
Tgene | C0339546 | Retinal Pigment Epithelial Detachment | 1 | CTD_human | |
Tgene | C0410480 | Avascular Necrosis of Femur Head | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0410574 | Synovial Hypertrophy | 1 | CTD_human | |
Tgene | C0432221 | Spondylometaphyseal dysplasia, 'corner fracture' type | 1 | ORPHANET | |
Tgene | C0432272 | Van Buchem disease | 1 | CTD_human | |
Tgene | C0524524 | Pseudoaphakia | 1 | CTD_human | |
Tgene | C0542428 | Hypochondrogenesis | 1 | ORPHANET | |
Tgene | C1510497 | Lens Opacities | 1 | CTD_human | |
Tgene | C1691779 | Sensory hearing loss | 1 | CTD_human | |
Tgene | C1836081 | RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT | 1 | ORPHANET | |
Tgene | C1837218 | Cleft palate, isolated | 1 | CTD_human | |
Tgene | C1840452 | Hyaloideoretinal degeneration of Wagner | 1 | CTD_human | |
Tgene | C1855310 | Megaepiphyseal dwarfism | 1 | CTD_human | |
Tgene | C1866688 | Spondylometaphyseal dysplasia, Algerian type | 1 | ORPHANET | |
Tgene | C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | 1 | CTD_human | |
Tgene | C4479260 | AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2 | 1 | ORPHANET | |
Tgene | C4551479 | Schwartz-Jampel Syndrome, Type 1 | 1 | CTD_human |