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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:LARGE-ATP6V1E1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LARGE-ATP6V1E1
FusionPDB ID: 44101
FusionGDB2.0 ID: 44101
HgeneTgene
Gene symbol

LARGE

ATP6V1E1

Gene ID

9215

529

Gene nameLARGE xylosyl- and glucuronyltransferase 1ATPase H+ transporting V1 subunit E1
SynonymsLARGE|MDC1D|MDDGA6|MDDGB6ARCL2C|ATP6E|ATP6E2|ATP6V1E|P31|Vma4
Cytomap

22q12.3

22q11.21

Type of geneprotein-codingprotein-coding
DescriptionLARGE xylosyl- and glucuronyltransferase 1acetylglucosaminyltransferase-like 1Aacetylglucosaminyltransferase-like proteinglycosyltransferase-like protein LARGE1V-type proton ATPase subunit E 1ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1H(+)-transporting two-sector ATPase, 31kDa subunitH+-transporting ATP synthase chain E, vacuolarV-ATPase 31 kDa subunitV-ATPase subunit E 1V-ATPase, subunit Evac
Modification date2020032820200313
UniProtAcc

O95461

Main function of 5'-partner protein: FUNCTION: Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1) (PubMed:22223806). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity and plays a key role in skeletal muscle function and regeneration. LARGE elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure initiated by B4GAT1 by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide (PubMed:25279699). {ECO:0000269|PubMed:15661757, ECO:0000269|PubMed:15752776, ECO:0000269|PubMed:21987822, ECO:0000269|PubMed:22223806, ECO:0000269|PubMed:25138275, ECO:0000269|PubMed:25279697, ECO:0000269|PubMed:25279699}.

P36543

Main function of 5'-partner protein: FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase essential for assembly or catalytic function. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.
Ensembl transtripts involved in fusion geneENST idsENST00000337431, ENST00000354992, 
ENST00000397394, ENST00000402320, 
ENST00000437602, ENST00000452586, 
ENST00000421232, 
ENST00000478963, 
ENST00000253413, ENST00000399796, 
ENST00000399798, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score10 X 9 X 6=5407 X 8 X 4=224
# samples 1310
** MAII scorelog2(13/540*10)=-2.05444778402238
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/224*10)=-1.16349873228288
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: LARGE [Title/Abstract] AND ATP6V1E1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: LARGE [Title/Abstract] AND ATP6V1E1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LARGE(33960834)-ATP6V1E1(18096086), # samples:1
Anticipated loss of major functional domain due to fusion event.LARGE-ATP6V1E1 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.
LARGE-ATP6V1E1 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.
LARGE-ATP6V1E1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
LARGE-ATP6V1E1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
LARGE-ATP6V1E1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted 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
HgeneLARGE

GO:0035269

protein O-linked mannosylation

22223806|25138275|25279697|25279699



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/chr22:33960834/chr22:18096086)
- 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 LARGE (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 ATP6V1E1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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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)
ENST00000337431LARGEchr2233960834-ENST00000253413ATP6V1E1chr2218096086-239612764591349296
ENST00000337431LARGEchr2233960834-ENST00000399796ATP6V1E1chr2218096086-227312764591349296
ENST00000337431LARGEchr2233960834-ENST00000399798ATP6V1E1chr2218096086-212312764591349296
ENST00000354992LARGEchr2233960834-ENST00000253413ATP6V1E1chr2218096086-247913595421432296
ENST00000354992LARGEchr2233960834-ENST00000399796ATP6V1E1chr2218096086-235613595421432296
ENST00000354992LARGEchr2233960834-ENST00000399798ATP6V1E1chr2218096086-220613595421432296
ENST00000397394LARGEchr2233960834-ENST00000253413ATP6V1E1chr2218096086-242313033541376340
ENST00000397394LARGEchr2233960834-ENST00000399796ATP6V1E1chr2218096086-230013033541376340
ENST00000397394LARGEchr2233960834-ENST00000399798ATP6V1E1chr2218096086-215013033541376340
ENST00000402320LARGEchr2233960834-ENST00000253413ATP6V1E1chr2218096086-240912893401362340
ENST00000402320LARGEchr2233960834-ENST00000399796ATP6V1E1chr2218096086-228612893401362340
ENST00000402320LARGEchr2233960834-ENST00000399798ATP6V1E1chr2218096086-213612893401362340

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
ENST00000337431ENST00000253413LARGEchr2233960834-ATP6V1E1chr2218096086-0.0077604620.9922395
ENST00000337431ENST00000399796LARGEchr2233960834-ATP6V1E1chr2218096086-0.0094472240.9905528
ENST00000337431ENST00000399798LARGEchr2233960834-ATP6V1E1chr2218096086-0.0112065170.98879343
ENST00000354992ENST00000253413LARGEchr2233960834-ATP6V1E1chr2218096086-0.0087591020.9912409
ENST00000354992ENST00000399796LARGEchr2233960834-ATP6V1E1chr2218096086-0.009354590.9906454
ENST00000354992ENST00000399798LARGEchr2233960834-ATP6V1E1chr2218096086-0.0123132420.9876867
ENST00000397394ENST00000253413LARGEchr2233960834-ATP6V1E1chr2218096086-0.0083368270.9916632
ENST00000397394ENST00000399796LARGEchr2233960834-ATP6V1E1chr2218096086-0.0088227520.9911773
ENST00000397394ENST00000399798LARGEchr2233960834-ATP6V1E1chr2218096086-0.011554440.9884455
ENST00000402320ENST00000253413LARGEchr2233960834-ATP6V1E1chr2218096086-0.0089657910.9910342
ENST00000402320ENST00000399796LARGEchr2233960834-ATP6V1E1chr2218096086-0.0098114760.99018854
ENST00000402320ENST00000399798LARGEchr2233960834-ATP6V1E1chr2218096086-0.0123782120.98762184

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 LARGE-ATP6V1E1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
LARGEchr2233960834ATP6V1E1chr22180960861276272DIAELWAVFHKFKGRRRVQHRERSAC
LARGEchr2233960834ATP6V1E1chr22180960861289316DIAELWAVFHKFKGRRRVQHRERSAC
LARGEchr2233960834ATP6V1E1chr22180960861303316DIAELWAVFHKFKGRRRVQHRERSAC
LARGEchr2233960834ATP6V1E1chr22180960861359272DIAELWAVFHKFKGRRRVQHRERSAC

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Potential FusionNeoAntigen Information of LARGE-ATP6V1E1 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.
LARGE-ATP6V1E1_33960834_18096086.msa

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)
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-A31:02KFKGRRRVQHR0.92970.55151021
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-A31:01AVFHKFKGRR0.98640.512616
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-A31:01AVFHKFKGRRR0.98450.6195617
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-A31:01KFKGRRRVQHR0.98390.51751021
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-C06:08HKFKGRRRV0.31980.9771918
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-C06:02HKFKGRRRV0.0010.9822918
LARGE-ATP6V1E1chr2233960834chr22180960861276HLA-C06:17HKFKGRRRV0.0010.9822918

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Potential FusionNeoAntigen Information of LARGE-ATP6V1E1 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.
LARGE-ATP6V1E1_33960834_18096086.msa

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)
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0802AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0808AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0809AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0811AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0813AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0815AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0815IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0821AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0824AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0824IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0830AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0830IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0837AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-0837IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1101AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1101IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1105AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1105IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1105ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1108AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1108IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1109AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1109IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1110AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1110IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1111AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1111IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1111FHKFKGRRRVQHRER823
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1111ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1111VFHKFKGRRRVQHRE722
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1112AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1112IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1114AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1114IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1115AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1115IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1119AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1119IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1120AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1120IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1124AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1124IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1127AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1128AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1128IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1129AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1129IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1131AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1131IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1132AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1132IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1132ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1133AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1133IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1137AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1139AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1139IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1145AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1145IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1145ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1149AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1149IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1151AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1151IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1161AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1161IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1162AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1162IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1164AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1164IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1166AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1166IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1168AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1169AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1169IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1169ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1172AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1172IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1172ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1173AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1174AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1174IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1175AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1175IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1180AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1181AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1181IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1182AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1182IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1182ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1186AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1186AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1187AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1190AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1190IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1191AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1191IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1193AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1194AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1194IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1195AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1195IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1196AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1196IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1302AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1302IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1305AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1305IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1307AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-13100AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1314AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1314IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1316AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1316AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1321AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1323AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1323IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1326AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1329AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1330AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1334AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1334IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1336AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1336IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1339AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1339IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1346AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1347AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1350AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1350IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1356AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1356IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1360AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1362AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1362IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1363AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1363IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1363FHKFKGRRRVQHRER823
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1363ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1363VFHKFKGRRRVQHRE722
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1373AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1373IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1374AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1374IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1382AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1382IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1386AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1397AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1397IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1399AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1399IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1403AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1403IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1424AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1424IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1424ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1427AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1427IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1430AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1440AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1440IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1453AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1463AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1467AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1467IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1477AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1477IAELWAVFHKFKGRR116
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1485AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB1-1498AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0102WAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0102LWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0102AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0103WAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0103LWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0103AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0103ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0103AELWAVFHKFKGRRR217
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0104WAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0104LWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0104AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0108NWAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0108NLWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0108NAVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0111WAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0111LWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0111AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0111ELWAVFHKFKGRRRV318
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0203WAVFHKFKGRRRVQH520
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0203LWAVFHKFKGRRRVQ419
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0203AVFHKFKGRRRVQHR621
LARGE-ATP6V1E1chr2233960834chr22180960861276DRB5-0203ELWAVFHKFKGRRRV318

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Fusion breakpoint peptide structures of LARGE-ATP6V1E1

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.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
686AVFHKFKGRRRVQHLARGEATP6V1E1chr2233960834chr22180960861276

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of LARGE-ATP6V1E1

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
HLA-B14:023BVN686AVFHKFKGRRRVQH-7.9962-8.1096
HLA-B14:023BVN686AVFHKFKGRRRVQH-5.70842-6.74372
HLA-B52:013W39686AVFHKFKGRRRVQH-6.83737-6.95077
HLA-B52:013W39686AVFHKFKGRRRVQH-4.4836-5.5189
HLA-A11:014UQ2686AVFHKFKGRRRVQH-10.0067-10.1201
HLA-A11:014UQ2686AVFHKFKGRRRVQH-9.03915-10.0745
HLA-A24:025HGA686AVFHKFKGRRRVQH-6.56204-6.67544
HLA-A24:025HGA686AVFHKFKGRRRVQH-5.42271-6.45801
HLA-B44:053DX8686AVFHKFKGRRRVQH-7.85648-8.89178
HLA-B44:053DX8686AVFHKFKGRRRVQH-5.3978-5.5112
HLA-A02:016TDR686AVFHKFKGRRRVQH-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of LARGE-ATP6V1E1

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
LARGE-ATP6V1E1chr2233960834chr22180960861021KFKGRRRVQHRAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAG
LARGE-ATP6V1E1chr2233960834chr2218096086616AVFHKFKGRRCTGTGTTCCACAAGTTCAAAGGCAGAAGAA
LARGE-ATP6V1E1chr2233960834chr2218096086617AVFHKFKGRRRCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAG
LARGE-ATP6V1E1chr2233960834chr2218096086918HKFKGRRRVACAAGTTCAAAGGCAGAAGAAGAGTTC

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
LARGE-ATP6V1E1chr2233960834chr2218096086116IAELWAVFHKFKGRRTTGCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAA
LARGE-ATP6V1E1chr2233960834chr2218096086217AELWAVFHKFKGRRRCAGAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAG
LARGE-ATP6V1E1chr2233960834chr2218096086318ELWAVFHKFKGRRRVAGCTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTC
LARGE-ATP6V1E1chr2233960834chr2218096086419LWAVFHKFKGRRRVQTGTGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAAC
LARGE-ATP6V1E1chr2233960834chr2218096086520WAVFHKFKGRRRVQHGGGCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATA
LARGE-ATP6V1E1chr2233960834chr2218096086621AVFHKFKGRRRVQHRCTGTGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAG
LARGE-ATP6V1E1chr2233960834chr2218096086722VFHKFKGRRRVQHRETGTTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAA
LARGE-ATP6V1E1chr2233960834chr2218096086823FHKFKGRRRVQHRERTCCACAAGTTCAAAGGCAGAAGAAGAGTTCAACATAGAGAAAGGT

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Information of the samples that have these potential fusion neoantigens of LARGE-ATP6V1E1

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
BRCALARGE-ATP6V1E1chr2233960834ENST00000337431chr2218096086ENST00000253413TCGA-BH-A18U-01A

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Potential target of CAR-T therapy development for LARGE-ATP6V1E1

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
HgeneLARGEchr22:33960834chr22:18096086ENST00000337431-71511_31262705.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33960834chr22:18096086ENST00000354992-71611_31262757.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33960834chr22:18096086ENST00000397394-61511_31262757.0TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneLARGEchr22:33960834chr22:18096086ENST00000402320-61411_31262705.0TransmembraneHelical%3B Signal-anchor for type II membrane protein

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 LARGE-ATP6V1E1

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 LARGE-ATP6V1E1

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