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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:CAPNS1-UPK1A (FusionGDB2 ID:12933)

Fusion Gene Summary for CAPNS1-UPK1A

check button Fusion gene summary
Fusion gene informationFusion gene name: CAPNS1-UPK1A
Fusion gene ID: 12933
HgeneTgene
Gene symbol

CAPNS1

UPK1A

Gene ID

826

11045

Gene namecalpain small subunit 1uroplakin 1A
SynonymsCALPAIN4|CANP|CANPS|CAPN4|CDPS|CSS1TSPAN21|UP1A|UPIA|UPKA
Cytomap

19q13.12

19q13.12

Type of geneprotein-codingprotein-coding
Descriptioncalpain small subunit 1CANP small subunitcalcium-activated neutral proteinase small subunitcalcium-dependent protease small subunit 1calcium-dependent protease, small subunitcalpain 4, small subunit (30K)calpain regulatory subunitcalpain, small poluroplakin-1atetraspanin-21tspan-21uroplakin Ia
Modification date2020031320200313
UniProtAcc

P04632

.
Ensembl transtripts involved in fusion geneENST00000246533, ENST00000587718, 
ENST00000588780, ENST00000588815, 
ENST00000589146, ENST00000590874, 
ENST00000222275, ENST00000379013, 
Fusion gene scores* DoF score29 X 25 X 9=65251 X 1 X 1=1
# samples 311
** MAII scorelog2(31/6525*10)=-4.39563778107037
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: CAPNS1 [Title/Abstract] AND UPK1A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCAPNS1(36637214)-UPK1A(36168714), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneUPK1A

GO:0030855

epithelial cell differentiation

10514386


check buttonFusion gene breakpoints across CAPNS1 (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 UPK1A (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4PRADTCGA-M7-A725-01ACAPNS1chr19

36637214

+UPK1Achr19

36168714

+


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Fusion Gene ORF analysis for CAPNS1-UPK1A

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
Frame-shiftENST00000246533ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
Frame-shiftENST00000587718ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
Frame-shiftENST00000588780ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
Frame-shiftENST00000588815ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
Frame-shiftENST00000589146ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
Frame-shiftENST00000590874ENST00000222275CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000246533ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000587718ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000588780ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000588815ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000589146ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+
In-frameENST00000590874ENST00000379013CAPNS1chr19

36637214

+UPK1Achr19

36168714

+

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)
ENST00000246533CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+158913195981587330
ENST00000589146CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+689419220687156
ENST00000587718CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+1056786651054330
ENST00000590874CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+94867847946300
ENST00000588815CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+11428721511140330
ENST00000588780CAPNS1chr1936637214+ENST00000379013UPK1Achr1936168714+1065795441063340

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
ENST00000246533ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.5204770.479523
ENST00000589146ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.2127730.787227
ENST00000587718ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.209833130.7901669
ENST00000590874ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.16905540.83094454
ENST00000588815ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.132766530.86723346
ENST00000588780ENST00000379013CAPNS1chr1936637214+UPK1Achr1936168714+0.3231080.67689204

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Fusion Genomic Features for CAPNS1-UPK1A


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)
CAPNS1chr1936637214+UPK1Achr1936168713+1.65E-050.99998355
CAPNS1chr1936637214+UPK1Achr1936168713+1.65E-050.99998355

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for CAPNS1-UPK1A


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/chr19:36637214/chr19:36168714)
- 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
CAPNS1

P04632

.
FUNCTION: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.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}.

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
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911108_119240269.0Calcium binding1
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911152_163240269.0Calcium binding2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911182_193240269.0Calcium binding3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910108_119240323.0Calcium binding1
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910152_163240323.0Calcium binding2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910182_193240323.0Calcium binding3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911108_119240269.0Calcium binding1
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911152_163240269.0Calcium binding2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911182_193240269.0Calcium binding3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+91110_26240269.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+9111_66240269.0Compositional biasNote=Gly-rich (hydrophobic)
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+91135_56240269.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+91178_83240269.0Compositional biasNote=Poly-Pro
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+91010_26240323.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+9101_66240323.0Compositional biasNote=Gly-rich (hydrophobic)
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+91035_56240323.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+91078_83240323.0Compositional biasNote=Poly-Pro
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+91110_26240269.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+9111_66240269.0Compositional biasNote=Gly-rich (hydrophobic)
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+91135_56240269.0Compositional biasNote=Poly-Gly
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+91178_83240269.0Compositional biasNote=Poly-Pro
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911139_172240269.0DomainEF-hand 2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911169_204240269.0DomainEF-hand 3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911205_233240269.0DomainEF-hand 4
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+91191_125240269.0DomainEF-hand 1%3B atypical
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910139_172240323.0DomainEF-hand 2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910169_204240323.0DomainEF-hand 3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910205_233240323.0DomainEF-hand 4
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+91091_125240323.0DomainEF-hand 1%3B atypical
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911139_172240269.0DomainEF-hand 2
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911169_204240269.0DomainEF-hand 3
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911205_233240269.0DomainEF-hand 4
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+91191_125240269.0DomainEF-hand 1%3B atypical
TgeneUPK1Achr19:36637214chr19:36168714ENST0000022227547253_258216259.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST0000037901358253_258248308.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST0000022227547231_252216259.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000246533+911234_268240269.0DomainEF-hand 5
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000587718+910234_268240323.0DomainEF-hand 5
HgeneCAPNS1chr19:36637214chr19:36168714ENST00000588815+911234_268240269.0DomainEF-hand 5
TgeneUPK1Achr19:36637214chr19:36168714ENST0000022227547113_230216259.0Topological domainExtracellular
TgeneUPK1Achr19:36637214chr19:36168714ENST00000222275471_14216259.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST000002222754736_59216259.0Topological domainExtracellular
TgeneUPK1Achr19:36637214chr19:36168714ENST000002222754787_91216259.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST0000037901358113_230248308.0Topological domainExtracellular
TgeneUPK1Achr19:36637214chr19:36168714ENST00000379013581_14248308.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST000003790135836_59248308.0Topological domainExtracellular
TgeneUPK1Achr19:36637214chr19:36168714ENST000003790135887_91248308.0Topological domainCytoplasmic
TgeneUPK1Achr19:36637214chr19:36168714ENST000002222754715_35216259.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST000002222754760_86216259.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST000002222754792_112216259.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST000003790135815_35248308.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST0000037901358231_252248308.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST000003790135860_86248308.0TransmembraneHelical
TgeneUPK1Achr19:36637214chr19:36168714ENST000003790135892_112248308.0TransmembraneHelical


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Fusion Gene Sequence for CAPNS1-UPK1A


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.
>12933_12933_1_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000246533_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=1589nt_BP=1319nt
TGCCATCCGGGCTGCTGCAGGCACTGGGAAAGGCAATCCAGCCTCAATCCTCGCCACAGACACGGGCGACTGTCCCCCAGCGTGTGAGTC
AAACCATACTCCAGGCCTCCAGGAGGTGTTTGTCGCGACAACACCTGCAGAGGGCCCGTGCGGAGTCCCTTAGTGAGCGGACCGAAAACC
GCCACCCTGGAAGGATATTGGCATGCCCTAGGGTGAAAATTCACACTACGACACTCGGGGGGTGGGTCCCCTCCGAGTTCTCGTCCGCGG
GTGCCTCCACCCAGACCTGAGGGGTGTCGGGAAGACCCCCGCCTACCGAGTCAGGGCGGGATTAAGACCTCCGGCGCTGGAAACGCGTAG
GGCGGGGCCCAGACCTGGATCCAGCTAGCCGGGCGGTGTGGGGTGCGCATGCGCAATGTCCGCTTCGGCTCTAGGACCGCGCGGGCGACA
GCAGGGCCGCGGTGCAGTGTCCGACCCGAGAGTTGCGGCCTGAGTCACCGGCCCCGCCCTCCGGAGCCGGACGCTGCGGGAGGCCCGGGA
GCGGCAGTGGAACCGACTCCCAGAACTCCGGACGTGTGCGGCGCAGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGGCGG
CGGCGGCGGCGGCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCGGCGGCGG
CGGCGGCGGCGGCGGCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCATCAGCGA
GGCGGCTGCGCAGTACAACCCGGAGCCCCCGCCCCCACGCACACATTACTCCAACATTGAGGCCAACGAGAGTGAGGAGGTCCGGCAGTT
CCGGAGACTCTTTGCCCAGCTGGCTGGAGATGACATGGAGGTCAGCGCCACAGAACTCATGAACATTCTCAATAAGGTTGTGACACGACA
CCCTGATCTGAAGACTGATGGTTTTGGCATTGACACATGTCGCAGCATGGTGGCCGTGATGGATAGCGACACCACAGGCAAGCTGGGCTT
TGAGGAATTCAAGTACTTGTGGAACAACATCAAAAGGTGGCAGGCCATATACAAACAGTTCGACACTGACCGATCAGGGACCATTTGCAG
TAGTGAACTCCCAGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGACGCTACTCAGATGAAAG
TGGGAACATGGATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACACATCGGCCACGCCATCG
ACAGCTACACGTGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCCATGTATTTCTACACCA
TGCTCTGAGGGACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGCTGGGCCTGGATGGCTG

>12933_12933_1_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000246533_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=330AA_BP=241
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNI
EANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQ
FDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVVWVCHPDVDAP

--------------------------------------------------------------
>12933_12933_2_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000587718_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=1056nt_BP=786nt
CCCGGGAGCGGCAGTGGAACCGACTCCCAGAACTCCGGACGTGTGCGGCGCAGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGA
AGGGCGGCGGCGGCGGCGGCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCG
GCGGCGGCGGCGGCGGCGGCGGCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCA
TCAGCGAGGCGGCTGCGCAGTACAACCCGGAGCCCCCGCCCCCACGCACACATTACTCCAACATTGAGGCCAACGAGAGTGAGGAGGTCC
GGCAGTTCCGGAGACTCTTTGCCCAGCTGGCTGGAGATGACATGGAGGTCAGCGCCACAGAACTCATGAACATTCTCAATAAGGTTGTGA
CACGACACCCTGATCTGAAGACTGATGGTTTTGGCATTGACACATGTCGCAGCATGGTGGCCGTGATGGATAGCGACACCACAGGCAAGC
TGGGCTTTGAGGAATTCAAGTACTTGTGGAACAACATCAAAAGGTGGCAGGCCATATACAAACAGTTCGACACTGACCGATCAGGGACCA
TTTGCAGTAGTGAACTCCCAGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGACGCTACTCAG
ATGAAAGTGGGAACATGGATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACACATCGGCCAC
GCCATCGACAGCTACACGTGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCCATGTATTTC
TACACCATGCTCTGAGGGACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGCTGGGCCTGG

>12933_12933_2_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000587718_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=330AA_BP=241
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNI
EANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQ
FDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVVWVCHPDVDAP

--------------------------------------------------------------
>12933_12933_3_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000588780_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=1065nt_BP=795nt
CACCCACTGGTCCCCTTTTTTCCCCCCAGCAGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGGCGGCGGCGGCGGCGGCG
GGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCGGCGGCGGCGGCGGCGGCGGCG
GCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCATCAGCGAGGCGGCTGCGCAGT
ACAACCCGGAGCCCCCGCCCCCACGCACACATTACTCCAACATTGAGGCCAACGAGAGTGAGGAGGTCCGGCAGTTCCGGAGACTCTTTG
CCCAGCTGGCTGGAGATGACATGGAGGTCAGCGCCACAGAACTCATGAACATTCTCAATAAGGTTGTGACACGACACCCTGATCTGAAGA
CTGATGGTTTTGGCATTGACACATGTCGCAGCATGGTGGCCGTGATGGATCTGTCACTCTTCTTAACACCCTCCCACCAGAGCGACACCA
CAGGCAAGCTGGGCTTTGAGGAATTCAAGTACTTGTGGAACAACATCAAAAGGTGGCAGGCCATATACAAACAGTTCGACACTGACCGAT
CAGGGACCATTTGCAGTAGTGAACTCCCAGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGAC
GCTACTCAGATGAAAGTGGGAACATGGATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACAC
ATCGGCCACGCCATCGACAGCTACACGTGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCC
ATGTATTTCTACACCATGCTCTGAGGGACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGC

>12933_12933_3_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000588780_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=340AA_BP=251
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNI
EANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDLSLFLTPSHQSDTTGKLGFEEFKYLWNN
IKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVV

--------------------------------------------------------------
>12933_12933_4_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000588815_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=1142nt_BP=872nt
CCGACTCCCAGAACTCCGGACGTGTGCGGCGGTAAGCGCCCGGCCCGTACCCCCTCCGCACCCCGCAACTCCGACTTTGGCGGCCCCCAG
ACCCGGCGAAACCGTGAAGTCTCGGCCTCAGGAGCCCCCCAGATCCATGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGG
CGGCGGCGGCGGCGGCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCGGCGG
CGGCGGCGGCGGCGGCGGCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCATCAG
CGAGGCGGCTGCGCAGTACAACCCGGAGCCCCCGCCCCCACGCACACATTACTCCAACATTGAGGCCAACGAGAGTGAGGAGGTCCGGCA
GTTCCGGAGACTCTTTGCCCAGCTGGCTGGAGATGACATGGAGGTCAGCGCCACAGAACTCATGAACATTCTCAATAAGGTTGTGACACG
ACACCCTGATCTGAAGACTGATGGTTTTGGCATTGACACATGTCGCAGCATGGTGGCCGTGATGGATAGCGACACCACAGGCAAGCTGGG
CTTTGAGGAATTCAAGTACTTGTGGAACAACATCAAAAGGTGGCAGGCCATATACAAACAGTTCGACACTGACCGATCAGGGACCATTTG
CAGTAGTGAACTCCCAGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGACGCTACTCAGATGA
AAGTGGGAACATGGATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACACATCGGCCACGCCA
TCGACAGCTACACGTGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCCATGTATTTCTACA
CCATGCTCTGAGGGACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGCTGGGCCTGGATGG

>12933_12933_4_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000588815_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=330AA_BP=241
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPPPRTHYSNI
EANESEEVRQFRRLFAQLAGDDMEVSATELMNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQ
FDTDRSGTICSSELPGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVVWVCHPDVDAP

--------------------------------------------------------------
>12933_12933_5_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000589146_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=689nt_BP=419nt
ATCCAGCTAGCCGGGCGGTGTGGGGTGCGCATGCGCAATGTCCGCTTCGGCTCTAGGACCGCGCGGGCGACAGCAGGGCCGCGGTGCAGT
GTCCGACCCGAGAGTTGCGGCCTGAGTCACCGGCCCCGCCCTCCGGAGCCGGACGCTGCGGGAGGCCCGGGAGCGGCAGTGGAACCGACT
CCCAGAACTCCGGACGTGTGCGGCGCAGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGGCGGCGGCGGCGGCGGCGGGGG
AGGCGGGGGCCTGGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGACGCTACTCAGATGAAAG
TGGGAACATGGATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACACATCGGCCACGCCATCG
ACAGCTACACGTGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCCATGTATTTCTACACCA
TGCTCTGAGGGACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGCTGGGCCTGGATGGCTG

>12933_12933_5_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000589146_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=156AA_BP=67
MFLVNSFLKGGGGGGGGGGGLGAFEAAGFHLNEHLYNMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVVWVCH

--------------------------------------------------------------
>12933_12933_6_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000590874_UPK1A_chr19_36168714_ENST00000379013_length(transcript)=948nt_BP=678nt
GGAACCGACTCCCAGAACTCCGGACGTGTGCGGCGTGAGTCGCAGCCATGTTCCTGGTTAACTCGTTCTTGAAGGGCGGCGGCGGCGGCG
GCGGGGGAGGCGGGGGCCTGGGTGGGGGCCTGGGAAATGTGCTTGGAGGCCTGATCAGCGGGGCCGGGGGCGGCGGCGGCGGCGGCGGCG
GCGGCGGCGGTGGTGGAGGCGGCGGTGGCGGTGGAACGGCCATGCGCATCCTAGGCGGAGTCATCAGCGCCATCAGCGAGGCGGCTGCGC
AGTACAACCCGGAGCCCCCGGACATGGAGGTCAGCGCCACAGAACTCATGAACATTCTCAATAAGGTTGTGACACGACACCCTGATCTGA
AGACTGATGGTTTTGGCATTGACACATGTCGCAGCATGGTGGCCGTGATGGATAGCGACACCACAGGCAAGCTGGGCTTTGAGGAATTCA
AGTACTTGTGGAACAACATCAAAAGGTGGCAGGCCATATACAAACAGTTCGACACTGACCGATCAGGGACCATTTGCAGTAGTGAACTCC
CAGGTGCCTTTGAGGCAGCAGGGTTCCACCTGAATGAGCATCTCTATAACATGATCATCCGACGCTACTCAGATGAAAGTGGGAACATGG
ATTTTGACAACTTCATCAGCTGCTTGGTCAGGCTGGACGCCATGTTCCGGCTGCTTCGAACACATCGGCCACGCCATCGACAGCTACACG
TGGGGTATCTCGTGGTTTGGGTTTGCCATCCTGATGTGGACGCTCCCGGTCATGCTGATAGCCATGTATTTCTACACCATGCTCTGAGGG
ACAGGAGGGGAAGGCAACATACACACCCCGGACTCCTCCGCATCCTCCTCCTGCTTCCTCCGCTGGGCCTGGATGGCTGCCTCACCTCTC

>12933_12933_6_CAPNS1-UPK1A_CAPNS1_chr19_36637214_ENST00000590874_UPK1A_chr19_36168714_ENST00000379013_length(amino acids)=300AA_BP=211
MFLVNSFLKGGGGGGGGGGGLGGGLGNVLGGLISGAGGGGGGGGGGGGGGGGGGGGTAMRILGGVISAISEAAAQYNPEPPDMEVSATEL
MNILNKVVTRHPDLKTDGFGIDTCRSMVAVMDSDTTGKLGFEEFKYLWNNIKRWQAIYKQFDTDRSGTICSSELPGAFEAAGFHLNEHLY
NMIIRRYSDESGNMDFDNFISCLVRLDAMFRLLRTHRPRHRQLHVGYLVVWVCHPDVDAPGHADSHVFLHHALRDRRGRQHTHPGLLRIL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for CAPNS1-UPK1A


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

ChiPPI page.


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


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


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


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


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Related Drugs for CAPNS1-UPK1A


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

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Related Diseases for CAPNS1-UPK1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource