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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:SQSTM1-CDKN1C

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SQSTM1-CDKN1C
FusionPDB ID: 86201
FusionGDB2.0 ID: 86201
HgeneTgene
Gene symbol

SQSTM1

CDKN1C

Gene ID

8878

1028

Gene namesequestosome 1cyclin dependent kinase inhibitor 1C
SynonymsA170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62BBWCR|BWS|KIP2|WBS|p57|p57Kip2
Cytomap

5q35.3

11p15.4

Type of geneprotein-codingprotein-coding
Descriptionsequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPautophagy receptor p62oxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domaincyclin-dependent kinase inhibitor 1Ccyclin-dependent kinase inhibitor 1C (p57, Kip2)cyclin-dependent kinase inhibitor p57
Modification date2020032720200315
UniProtAcc

Q13501

Main function of 5'-partner protein: FUNCTION: Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective genes (PubMed:20452972, PubMed:28380357, PubMed:33393215). {ECO:0000250|UniProtKB:O08623, ECO:0000250|UniProtKB:Q64337, ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10747026, ECO:0000269|PubMed:11244088, ECO:0000269|PubMed:12471037, ECO:0000269|PubMed:15340068, ECO:0000269|PubMed:15802564, ECO:0000269|PubMed:15911346, ECO:0000269|PubMed:15953362, ECO:0000269|PubMed:16079148, ECO:0000269|PubMed:16286508, ECO:0000269|PubMed:19931284, ECO:0000269|PubMed:20168092, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:22622177, ECO:0000269|PubMed:24128730, ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28380357, ECO:0000269|PubMed:28404643, ECO:0000269|PubMed:29496741, ECO:0000269|PubMed:33393215}.

P49918

Main function of 5'-partner protein: FUNCTION: Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non-proliferative state throughout life.
Ensembl transtripts involved in fusion geneENST idsENST00000360718, ENST00000376929, 
ENST00000389805, ENST00000402874, 
ENST00000510187, ENST00000506690, 
ENST00000380725, ENST00000313407, 
ENST00000414822, ENST00000430149, 
ENST00000440480, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score29 X 23 X 12=80043 X 3 X 3=27
# samples 333
** MAII scorelog2(33/8004*10)=-4.60018323765993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: SQSTM1 [Title/Abstract] AND CDKN1C [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SQSTM1 [Title/Abstract] AND CDKN1C [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SQSTM1(179251323)-CDKN1C(2905364), # samples:1
Anticipated loss of major functional domain due to fusion event.SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneSQSTM1

GO:0006914

autophagy

20452972

HgeneSQSTM1

GO:0007032

endosome organization

27368102

HgeneSQSTM1

GO:0031397

negative regulation of protein ubiquitination

20452972

HgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

HgeneSQSTM1

GO:1905719

protein localization to perinuclear region of cytoplasm

27368102

TgeneCDKN1C

GO:0033673

negative regulation of kinase activity

19170105

TgeneCDKN1C

GO:0042326

negative regulation of phosphorylation

19170105

TgeneCDKN1C

GO:0045892

negative regulation of transcription, DNA-templated

19170105



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/chr5:179251323/chr11:2905364)
- 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 SQSTM1 (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 CDKN1C (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)
ENST00000376929SQSTM1chr5179251323+ENST00000414822CDKN1Cchr112905364-16207811032403209
ENST00000376929SQSTM1chr5179251323+ENST00000440480CDKN1Cchr112905364-16157811032403209
ENST00000376929SQSTM1chr5179251323+ENST00000313407CDKN1Cchr112905364-1597781303911202
ENST00000376929SQSTM1chr5179251323+ENST00000430149CDKN1Cchr112905364-1249781303911202
ENST00000389805SQSTM1chr5179251323+ENST00000414822CDKN1Cchr112905364-1690851178981267
ENST00000389805SQSTM1chr5179251323+ENST00000440480CDKN1Cchr112905364-1685851178981267
ENST00000389805SQSTM1chr5179251323+ENST00000313407CDKN1Cchr112905364-1667851178981267
ENST00000389805SQSTM1chr5179251323+ENST00000430149CDKN1Cchr112905364-1319851178981267
ENST00000402874SQSTM1chr5179251323+ENST00000414822CDKN1Cchr112905364-153069118821267
ENST00000402874SQSTM1chr5179251323+ENST00000440480CDKN1Cchr112905364-152569118821267
ENST00000402874SQSTM1chr5179251323+ENST00000313407CDKN1Cchr112905364-150769118821267
ENST00000402874SQSTM1chr5179251323+ENST00000430149CDKN1Cchr112905364-115969118821267
ENST00000510187SQSTM1chr5179251323+ENST00000414822CDKN1Cchr112905364-152868916819267
ENST00000510187SQSTM1chr5179251323+ENST00000440480CDKN1Cchr112905364-152368916819267
ENST00000510187SQSTM1chr5179251323+ENST00000313407CDKN1Cchr112905364-150568916819267
ENST00000510187SQSTM1chr5179251323+ENST00000430149CDKN1Cchr112905364-115768916819267
ENST00000360718SQSTM1chr5179251323+ENST00000414822CDKN1Cchr112905364-17809413341071245
ENST00000360718SQSTM1chr5179251323+ENST00000440480CDKN1Cchr112905364-17759413341071245
ENST00000360718SQSTM1chr5179251323+ENST00000313407CDKN1Cchr112905364-17579413341071245
ENST00000360718SQSTM1chr5179251323+ENST00000430149CDKN1Cchr112905364-14099413341071245

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
ENST00000376929ENST00000414822SQSTM1chr5179251323+CDKN1Cchr112905364-0.25429930.7457007
ENST00000376929ENST00000440480SQSTM1chr5179251323+CDKN1Cchr112905364-0.26055910.7394409
ENST00000376929ENST00000313407SQSTM1chr5179251323+CDKN1Cchr112905364-0.261151370.7388486
ENST00000376929ENST00000430149SQSTM1chr5179251323+CDKN1Cchr112905364-0.384475530.61552453
ENST00000389805ENST00000414822SQSTM1chr5179251323+CDKN1Cchr112905364-0.0707003550.9292997
ENST00000389805ENST00000440480SQSTM1chr5179251323+CDKN1Cchr112905364-0.0688380450.93116194
ENST00000389805ENST00000313407SQSTM1chr5179251323+CDKN1Cchr112905364-0.063002920.9369971
ENST00000389805ENST00000430149SQSTM1chr5179251323+CDKN1Cchr112905364-0.154652910.84534717
ENST00000402874ENST00000414822SQSTM1chr5179251323+CDKN1Cchr112905364-0.078980940.92101914
ENST00000402874ENST00000440480SQSTM1chr5179251323+CDKN1Cchr112905364-0.076801250.9231987
ENST00000402874ENST00000313407SQSTM1chr5179251323+CDKN1Cchr112905364-0.068976930.93102306
ENST00000402874ENST00000430149SQSTM1chr5179251323+CDKN1Cchr112905364-0.178414080.8215859
ENST00000510187ENST00000414822SQSTM1chr5179251323+CDKN1Cchr112905364-0.076866270.9231338
ENST00000510187ENST00000440480SQSTM1chr5179251323+CDKN1Cchr112905364-0.073998330.9260016
ENST00000510187ENST00000313407SQSTM1chr5179251323+CDKN1Cchr112905364-0.067273270.9327267
ENST00000510187ENST00000430149SQSTM1chr5179251323+CDKN1Cchr112905364-0.178082030.82191795
ENST00000360718ENST00000414822SQSTM1chr5179251323+CDKN1Cchr112905364-0.351249580.6487504
ENST00000360718ENST00000440480SQSTM1chr5179251323+CDKN1Cchr112905364-0.352478740.64752126
ENST00000360718ENST00000313407SQSTM1chr5179251323+CDKN1Cchr112905364-0.3279760.672024
ENST00000360718ENST00000430149SQSTM1chr5179251323+CDKN1Cchr112905364-0.402946770.59705323

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 SQSTM1-CDKN1C

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SQSTM1chr5179251323CDKN1Cchr112905364689224RAGEARPGPTAESDFFAKRKRSAPEK
SQSTM1chr5179251323CDKN1Cchr112905364691224RAGEARPGPTAESDFFAKRKRSAPEK
SQSTM1chr5179251323CDKN1Cchr112905364781159RAGEARPGPTAESDFFAKRKRSAPEK
SQSTM1chr5179251323CDKN1Cchr112905364851224RAGEARPGPTAESDFFAKRKRSAPEK
SQSTM1chr5179251323CDKN1Cchr112905364941202RAGEARPGPTAESDFFAKRKRSAPEK

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Potential FusionNeoAntigen Information of SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C_179251323_2905364.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)
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-B47:01AESDFFAKR0.82450.71241019
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-B35:08GPTAESDFF0.81290.8848716
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-B07:12RPGPTAESDF0.97410.5357515
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:29ARPGPTAESDF0.99930.8858415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:80ARPGPTAESDF0.99880.9388415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:67ARPGPTAESDF0.99880.9388415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:19ARPGPTAESDF0.99860.7823415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:10ARPGPTAESDF0.99830.9449415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:46ARPGPTAESDF0.99750.8921415
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-B07:12RPGPTAESDFF0.99170.5653516
SQSTM1-CDKN1Cchr5179251323chr112905364941HLA-C07:02ARPGPTAESDF0.99880.9388415

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Potential FusionNeoAntigen Information of SQSTM1-CDKN1C 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.
SQSTM1-CDKN1C_179251323_2905364.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)
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1101ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1101AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1105ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1105AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1108ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1109ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1109AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1110ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1110AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1111ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1111AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1111TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1112ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1112AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1114ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1114AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1114TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1115ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1115AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1119ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1120ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1120AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1120TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1124ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1124AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1127ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1127AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1128ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1128AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1129ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1129AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1131ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1132ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1132AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1133ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1133AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1137ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1139ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1139AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1145ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1145AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1145TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1149ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1149AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1151ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1151AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1161ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1161AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1162ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1162AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1164ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1164AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1166ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1166AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1168ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1168AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1168TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1169ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1169AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1172ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1172AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1174ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1174AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1175ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1175AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1180ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1181ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1181AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1182ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1186ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1186AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1186TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1187ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1190ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1190AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1191ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1191AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1193ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1193AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1194ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1194AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1195ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1195AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1196ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1196AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1302ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1302AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1302TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1305ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1305AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1307ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1314ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1314AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1316ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1316AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1316TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1323ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1323AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1323TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1326ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1326AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1329ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1329AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1329TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1334ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1334AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1334TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1336ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1336AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1336TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1338ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1338AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1339ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1339AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1339TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1341ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1341AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1347ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1347AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1350ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1350AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1356ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1362ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1362AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1363ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1363AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1363TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1365ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1365AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1367ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1367AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1373ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1373AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1373TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1374ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1374AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1374TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1382ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1396ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1396AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1397ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1397AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1397TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1399ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1399AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1399TAESDFFAKRKRSAP924
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1403ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1403AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1427ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1427AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1440ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1440AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1467ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1467AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1477ESDFFAKRKRSAPEK1126
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1477AESDFFAKRKRSAPE1025
SQSTM1-CDKN1Cchr5179251323chr112905364941DRB1-1498ESDFFAKRKRSAPEK1126

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Fusion breakpoint peptide structures of SQSTM1-CDKN1C

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
6666PGPTAESDFFAKRKSQSTM1CDKN1Cchr5179251323chr112905364941

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SQSTM1-CDKN1C

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-B14:023BVN6666PGPTAESDFFAKRK-7.9962-8.1096
HLA-B14:023BVN6666PGPTAESDFFAKRK-5.70842-6.74372
HLA-B52:013W396666PGPTAESDFFAKRK-6.83737-6.95077
HLA-B52:013W396666PGPTAESDFFAKRK-4.4836-5.5189
HLA-A11:014UQ26666PGPTAESDFFAKRK-10.0067-10.1201
HLA-A11:014UQ26666PGPTAESDFFAKRK-9.03915-10.0745
HLA-A24:025HGA6666PGPTAESDFFAKRK-6.56204-6.67544
HLA-A24:025HGA6666PGPTAESDFFAKRK-5.42271-6.45801
HLA-B44:053DX86666PGPTAESDFFAKRK-7.85648-8.89178
HLA-B44:053DX86666PGPTAESDFFAKRK-5.3978-5.5112
HLA-A02:016TDR6666PGPTAESDFFAKRK-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of SQSTM1-CDKN1C

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
SQSTM1-CDKN1Cchr5179251323chr1129053641019AESDFFAKRCAGAATCAGATTTCTTCGCCAAGCGCA
SQSTM1-CDKN1Cchr5179251323chr112905364415ARPGPTAESDFCCCGCCCTGGCCCCACGGCAGAATCAGATTTCT
SQSTM1-CDKN1Cchr5179251323chr112905364515RPGPTAESDFGCCCTGGCCCCACGGCAGAATCAGATTTCT
SQSTM1-CDKN1Cchr5179251323chr112905364516RPGPTAESDFFGCCCTGGCCCCACGGCAGAATCAGATTTCTTCG
SQSTM1-CDKN1Cchr5179251323chr112905364716GPTAESDFFGCCCCACGGCAGAATCAGATTTCTTCG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
SQSTM1-CDKN1Cchr5179251323chr1129053641025AESDFFAKRKRSAPECAGAATCAGATTTCTTCGCCAAGCGCAAGAGATCAGCGCCTGAGA
SQSTM1-CDKN1Cchr5179251323chr1129053641126ESDFFAKRKRSAPEKAATCAGATTTCTTCGCCAAGCGCAAGAGATCAGCGCCTGAGAAGT
SQSTM1-CDKN1Cchr5179251323chr112905364924TAESDFFAKRKRSAPCGGCAGAATCAGATTTCTTCGCCAAGCGCAAGAGATCAGCGCCTG

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Information of the samples that have these potential fusion neoantigens of SQSTM1-CDKN1C

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
ESCASQSTM1-CDKN1Cchr5179251323ENST00000360718chr112905364ENST00000313407TCGA-L5-A8NI

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Potential target of CAR-T therapy development for SQSTM1-CDKN1C

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 SQSTM1-CDKN1C

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 SQSTM1-CDKN1C

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
HgeneSQSTM1C4085252PAGET DISEASE OF BONE 39GENOMICS_ENGLAND;UNIPROT
HgeneSQSTM1C0002736Amyotrophic Lateral Sclerosis5CTD_human;ORPHANET
HgeneSQSTM1C4225326FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 34CTD_human;UNIPROT
HgeneSQSTM1C0029463Osteosarcoma2GENOMICS_ENGLAND
HgeneSQSTM1C0221054Welander Distal Myopathy1ORPHANET
HgeneSQSTM1C0242383Age related macular degeneration1CTD_human
HgeneSQSTM1C0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
HgeneSQSTM1C0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
HgeneSQSTM1C1853926NONAKA MYOPATHY1CTD_human;GENOMICS_ENGLAND
HgeneSQSTM1C2931290Welander distal myopathy, Swedish type1ORPHANET
HgeneSQSTM1C3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET
HgeneSQSTM1C4011788Behavioral variant of frontotemporal dementia1ORPHANET