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Center for Computational Systems Medicine
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Fusion Gene and Fusion Protein Summary

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Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

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Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

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Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

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Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

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Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

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Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

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Potential target of CAR-T therapy development

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Information on the samples that have these potential fusion neoantigens

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Fusion Protein Targeting Drugs - (Manual Curation)

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Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:ATP2C1-MBNL1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATP2C1-MBNL1
FusionPDB ID: 7891
FusionGDB2.0 ID: 7891
HgeneTgene
Gene symbol

ATP2C1

MBNL1

Gene ID

27032

4154

Gene nameATPase secretory pathway Ca2+ transporting 1muscleblind like splicing regulator 1
SynonymsATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1EXP|MBNL
Cytomap

3q22.1

3q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptioncalcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1muscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding protein
Modification date2020031320200327
UniProtAcc

P98194

Main function of 5'-partner protein: FUNCTION: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.

Q9NR56

Main function of 5'-partner protein: FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458}.
Ensembl transtripts involved in fusion geneENST idsENST00000328560, ENST00000359644, 
ENST00000422190, ENST00000428331, 
ENST00000508532, ENST00000510168, 
ENST00000504948, ENST00000513801, 
ENST00000393221, ENST00000504381, 
ENST00000505330, ENST00000507488, 
ENST00000509150, ENST00000533801, 
ENST00000461436, ENST00000282486, 
ENST00000282488, ENST00000324196, 
ENST00000324210, ENST00000355460, 
ENST00000357472, ENST00000498502, 
ENST00000545754, ENST00000463374, 
ENST00000485509, ENST00000485910, 
ENST00000492948, ENST00000493459, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 17 X 10=272028 X 14 X 6=2352
# samples 1928
** MAII scorelog2(19/2720*10)=-3.83953532780675
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/2352*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ATP2C1 [Title/Abstract] AND MBNL1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ATP2C1 [Title/Abstract] AND MBNL1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATP2C1(130613181)-MBNL1(152017194), # samples:1
ATP2C1(130613619)-MBNL1(152132730), # samples:1
Anticipated loss of major functional domain due to fusion event.ATP2C1-MBNL1 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.
ATP2C1-MBNL1 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.
ATP2C1-MBNL1 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.
ATP2C1-MBNL1 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
HgeneATP2C1

GO:0006816

calcium ion transport

12810057

HgeneATP2C1

GO:0006874

cellular calcium ion homeostasis

12810057

TgeneMBNL1

GO:0008380

RNA splicing

18335541

TgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708



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/chr3:130613181/chr3:152017194)
- 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 buttonRetention analysis results 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, are available here.

check buttonFusion gene breakpoints across ATP2C1 (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 MBNL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Amino Acid Sequences


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000510168ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+47045568292276
ENST00000510168ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+49625565501548332
ENST00000510168ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+49095565501494314
ENST00000510168ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+44375565501584344
ENST00000510168ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+49285565501530326
ENST00000510168ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+48515565501428292
ENST00000510168ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+47405568292276
ENST00000510168ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+48495565501410286
ENST00000510168ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+48185565501404284
ENST00000510168ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+41285568292276
ENST00000510168ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+49635565501548332
ENST00000510168ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+14365565501410286
ENST00000510168ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+14055565501404285
ENST00000508532ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+45634154091149246
ENST00000508532ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+48214154091407332
ENST00000508532ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+47684154091353314
ENST00000508532ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+42964154091443344
ENST00000508532ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+47874154091389326
ENST00000508532ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+47104154091287292
ENST00000508532ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+45994154091185258
ENST00000508532ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+47084154091269286
ENST00000508532ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+46774154091263284
ENST00000508532ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+39874154091149246
ENST00000508532ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+48224154091407332
ENST00000508532ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+12954154091269286
ENST00000508532ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+12644154091263285
ENST00000328560ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+44763283221062246
ENST00000328560ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+47343283221320332
ENST00000328560ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+46813283221266314
ENST00000328560ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+42093283221356344
ENST00000328560ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+47003283221302326
ENST00000328560ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+46233283221200292
ENST00000328560ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+45123283221098258
ENST00000328560ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+46213283221182286
ENST00000328560ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+45903283221176284
ENST00000328560ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+39003283221062246
ENST00000328560ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+47353283221320332
ENST00000328560ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+12083283221182286
ENST00000328560ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+11773283221176285
ENST00000428331ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+4389241235975246
ENST00000428331ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+46472412351233332
ENST00000428331ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+45942412351179314
ENST00000428331ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+41222412351269344
ENST00000428331ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+46132412351215326
ENST00000428331ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+45362412351113292
ENST00000428331ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+44252412351011258
ENST00000428331ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+45342412351095286
ENST00000428331ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+45032412351089284
ENST00000428331ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+3813241235975246
ENST00000428331ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+46482412351233332
ENST00000428331ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+11212412351095286
ENST00000428331ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+10902412351089285
ENST00000359644ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+4283135129869246
ENST00000359644ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+45411351291127332
ENST00000359644ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+44881351291073314
ENST00000359644ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+40161351291163344
ENST00000359644ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+45071351291109326
ENST00000359644ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+44301351291007292
ENST00000359644ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+4319135129905258
ENST00000359644ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+4428135129989286
ENST00000359644ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+4397135129983284
ENST00000359644ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+3707135129869246
ENST00000359644ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+45421351291127332
ENST00000359644ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+1015135129989286
ENST00000359644ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+984135129983284
ENST00000422190ATP2C1chr3130613619-ENST00000282488MBNL1chr3152132730+4283135129869246
ENST00000422190ATP2C1chr3130613619-ENST00000282486MBNL1chr3152132730+45411351291127332
ENST00000422190ATP2C1chr3130613619-ENST00000355460MBNL1chr3152132730+44881351291073314
ENST00000422190ATP2C1chr3130613619-ENST00000493459MBNL1chr3152132730+40161351291163344
ENST00000422190ATP2C1chr3130613619-ENST00000324210MBNL1chr3152132730+45071351291109326
ENST00000422190ATP2C1chr3130613619-ENST00000498502MBNL1chr3152132730+44301351291007292
ENST00000422190ATP2C1chr3130613619-ENST00000545754MBNL1chr3152132730+4319135129905258
ENST00000422190ATP2C1chr3130613619-ENST00000357472MBNL1chr3152132730+4428135129989286
ENST00000422190ATP2C1chr3130613619-ENST00000324196MBNL1chr3152132730+4397135129983284
ENST00000422190ATP2C1chr3130613619-ENST00000485910MBNL1chr3152132730+3707135129869246
ENST00000422190ATP2C1chr3130613619-ENST00000463374MBNL1chr3152132730+45421351291127332
ENST00000422190ATP2C1chr3130613619-ENST00000492948MBNL1chr3152132730+1015135129989286
ENST00000422190ATP2C1chr3130613619-ENST00000485509MBNL1chr3152132730+984135129983284

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
ENST00000510168ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0017806670.9982193
ENST00000510168ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.001344680.9986553
ENST00000510168ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.0017536470.9982463
ENST00000510168ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0016682990.9983317
ENST00000510168ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0016718520.99832815
ENST00000510168ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.001706730.9982932
ENST00000510168ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.001698830.9983012
ENST00000510168ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0017330590.99826694
ENST00000510168ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0037579320.99624205
ENST00000510168ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0017149360.998285
ENST00000510168ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0013277840.99867225
ENST00000510168ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0163313630.9836686
ENST00000510168ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.0221088040.9778912
ENST00000508532ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0017817420.99821824
ENST00000508532ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.0013428820.9986571
ENST00000508532ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.001763490.99823654
ENST00000508532ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0016880880.9983119
ENST00000508532ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0016619870.998338
ENST00000508532ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.0017126050.9982874
ENST00000508532ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.0017003140.99829966
ENST00000508532ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0017322290.99826777
ENST00000508532ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0037351610.9962649
ENST00000508532ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0017093610.9982906
ENST00000508532ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0013260110.99867404
ENST00000508532ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0153944350.98460555
ENST00000508532ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.018823980.9811761
ENST00000328560ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0014760230.998524
ENST00000328560ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.0011404340.9988595
ENST00000328560ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.0014840060.998516
ENST00000328560ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0015029540.998497
ENST00000328560ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0014392970.9985607
ENST00000328560ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.0014451670.9985549
ENST00000328560ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.0014398590.99856013
ENST00000328560ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0014717240.99852824
ENST00000328560ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0031744540.9968256
ENST00000328560ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0014366310.99856335
ENST00000328560ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0011247970.9988752
ENST00000328560ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0058953540.9941047
ENST00000328560ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.0100479280.989952
ENST00000428331ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0013639290.99863607
ENST00000428331ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.001073490.99892646
ENST00000428331ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.0013937250.99860626
ENST00000428331ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0014685870.99853134
ENST00000428331ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0013429070.9986571
ENST00000428331ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.0013217820.99867815
ENST00000428331ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.0013313840.9986687
ENST00000428331ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0013440650.9986559
ENST00000428331ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0029271480.9970728
ENST00000428331ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0013260360.99867404
ENST00000428331ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0010584370.9989416
ENST00000428331ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0031122660.99688774
ENST00000428331ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.0050143720.9949856
ENST00000359644ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0013237040.99867624
ENST00000359644ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.0010379390.99896204
ENST00000359644ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.001342070.99865794
ENST00000359644ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0013972720.9986027
ENST00000359644ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0012922990.99870765
ENST00000359644ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.0012780420.9987219
ENST00000359644ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.0012856330.9987143
ENST00000359644ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0012951970.9987048
ENST00000359644ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0028080910.99719197
ENST00000359644ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0012574140.99874264
ENST00000359644ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0010238330.99897623
ENST00000359644ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0022559210.9977441
ENST00000359644ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.0035838380.9964161
ENST00000422190ENST00000282488ATP2C1chr3130613619-MBNL1chr3152132730+0.0013237040.99867624
ENST00000422190ENST00000282486ATP2C1chr3130613619-MBNL1chr3152132730+0.0010379390.99896204
ENST00000422190ENST00000355460ATP2C1chr3130613619-MBNL1chr3152132730+0.001342070.99865794
ENST00000422190ENST00000493459ATP2C1chr3130613619-MBNL1chr3152132730+0.0013972720.9986027
ENST00000422190ENST00000324210ATP2C1chr3130613619-MBNL1chr3152132730+0.0012922990.99870765
ENST00000422190ENST00000498502ATP2C1chr3130613619-MBNL1chr3152132730+0.0012780420.9987219
ENST00000422190ENST00000545754ATP2C1chr3130613619-MBNL1chr3152132730+0.0012856330.9987143
ENST00000422190ENST00000357472ATP2C1chr3130613619-MBNL1chr3152132730+0.0012951970.9987048
ENST00000422190ENST00000324196ATP2C1chr3130613619-MBNL1chr3152132730+0.0028080910.99719197
ENST00000422190ENST00000485910ATP2C1chr3130613619-MBNL1chr3152132730+0.0012574140.99874264
ENST00000422190ENST00000463374ATP2C1chr3130613619-MBNL1chr3152132730+0.0010238330.99897623
ENST00000422190ENST00000492948ATP2C1chr3130613619-MBNL1chr3152132730+0.0022559210.9977441
ENST00000422190ENST00000485509ATP2C1chr3130613619-MBNL1chr3152132730+0.0035838380.9964161

check button Predicted full-length fusion amino acid sequences. For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among all the predicted ones.

Get the fusion protein sequences from here.

Fusion protein sequence information is available in the fasta format.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

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Fusion Protein Breakpoint Sequences for ATP2C1-MBNL1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ATP2C1chr3130613619MBNL1chr3152132730135125AAAAAQKLMRTDRLEVCREYQRGNCN
ATP2C1chr3130613619MBNL1chr3152132730241125AAAAAQKLMRTDRLEVCREYQRGNCN
ATP2C1chr3130613619MBNL1chr3152132730328125AAAAAQKLMRTDRLEVCREYQRGNCN
ATP2C1chr3130613619MBNL1chr3152132730415125AAAAAQKLMRTDRLEVCREYQRGNCN
ATP2C1chr3130613619MBNL1chr3152132730556125AAAAAQKLMRTDRLEVCREYQRGNCN

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Potential FusionNeoAntigen Information of ATP2C1-MBNL1 in HLA I

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCpan v4.1 (%rank<0.5) and deepHLApan v1.1 (immunogenic score>0.5)
Fusion geneHchrHbpTgeneTchrTbpHLA IFusionNeoAntigen peptideBinding scoreImmunogenic scoreNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Potential FusionNeoAntigen Information of ATP2C1-MBNL1 in HLA II

check button Multiple sequence alignments of the potential FusionNeoAntigens per fusion breakpoints. If the MSA is empty, then it means that there were predicted fusion neoantigens in this fusion breakpoint, but those predicted fusion neoantigens were not across the breakpoint, which is not fusion-specific.

check button Potential FusionNeoAntigen Information
* We used NetMHCIIpan v4.1 (%rank<0.5).
Fusion geneHchrHbpTgeneTchrTbpHLA IIFusionNeoAntigen peptideNeoantigen start (at BP 13)Neoantigen end (at BP 13)

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Fusion breakpoint peptide structures of ATP2C1-MBNL1

check button3D structures of the fusion breakpoint peptide of 14AA sequence that have potential fusion neoantigens
* The minimum length of the amino acid sequence in RoseTTAFold is 14AA. Here, we predicted the 14AA fusion protein breakpoint sequence not the fusion neoantigen peptide, which is shorter than 14 AA.

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ATP2C1-MBNL1

check buttonVirtual screening between 25 HLAs (from PDB) and FusionNeoAntigens
* We used Glide to predict the interaction between HLAs and neoantigens.
HLA allelePDB IDFile nameBPseqDocking scoreGlide score

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Vaccine Design for the FusionNeoAntigens of ATP2C1-MBNL1

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-Is.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptide sequenceFusionNeoAntigen RNA sequence

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence

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Information of the samples that have these potential fusion neoantigens of ATP2C1-MBNL1

check button These samples were reported as having these fusion breakpoints. For individual breakpoints, we checked the open reading frames considering multiple gene isoforms and chose the in-frame fusion genes only. Then, we made fusion protein sequences and predicted the fusion neoantigens. These fusion-positive samples may have these potential fusion neoantigens.
Cancer typeFusion geneHchrHbpHenstTchrTbpTenstSample

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Potential target of CAR-T therapy development for ATP2C1-MBNL1

check button Predicted 3D structure. We used RoseTTAFold.

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, to provide the retention of the transmembrane domain, we only show the protein feature retention information of those transmembrane features


* Minus value of BPloci means that the break point is located before the CDS.
- In-frame and retained 'Transmembrane'.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

check button Subcellular localization prediction of the transmembrane domain retained fusion proteins
* We used DeepLoc 1.0. The order of the X-axis of the barplot is as follows: Entry_ID, Localization, Type, Nucleus, Cytoplasm, Extracellular, Mitochondrion, Cell_membrane, Endoplasmic_reticulum, Plastid, Golgi.apparatus, Lysosome.Vacuole, Peroxisome. Y-axis is the output score of DeepLoc. Clicking the image will open a new tab with a large image.
HgeneHchrHbpHenstTgeneTchrTbpTenstDeepLoc result

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Related Drugs to ATP2C1-MBNL1

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ATP2C1-MBNL1

check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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