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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:NFIX-MAST1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NFIX-MAST1
FusionPDB ID: 58953
FusionGDB2.0 ID: 58953
HgeneTgene
Gene symbol

NFIX

MAST1

Gene ID

4784

23332

Gene namenuclear factor I Xcytoplasmic linker associated protein 1
SynonymsCTF|MRSHSS|NF-I/X|NF1-X|NF1A|SOTOS2MAST1
Cytomap

19p13.13

2q14.2-q14.3

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 X-typeCCAAT-box-binding transcription factorTGGCA-binding proteinnuclear factor 1/XCLIP-associating protein 1multiple asters 1multiple asters homolog 1protein Orbit homolog 1
Modification date2020032920200313
UniProtAcc

Q14938

Main function of 5'-partner protein: FUNCTION: Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and in the origin of replication of adenovirus type 2. These proteins are individually capable of activating transcription and replication.

Q9Y2H9

Main function of 5'-partner protein: FUNCTION: Microtubule-associated protein essential for correct brain development (PubMed:30449657). Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins (By similarity). {ECO:0000250|UniProtKB:Q9R1L5, ECO:0000269|PubMed:30449657}.
Ensembl transtripts involved in fusion geneENST idsENST00000358552, ENST00000360105, 
ENST00000397661, ENST00000585575, 
ENST00000587260, ENST00000587760, 
ENST00000588228, ENST00000592199, 
ENST00000588680, 
ENST00000591495, 
ENST00000251472, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score27 X 14 X 16=60487 X 10 X 6=420
# samples 4211
** MAII scorelog2(42/6048*10)=-3.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/420*10)=-1.93288580414146
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: NFIX [Title/Abstract] AND MAST1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: NFIX [Title/Abstract] AND MAST1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NFIX(13136366)-MAST1(12975623), # samples:2
Anticipated loss of major functional domain due to fusion event.NFIX-MAST1 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.
NFIX-MAST1 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.
NFIX-MAST1 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.
NFIX-MAST1 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.
NFIX-MAST1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
NFIX-MAST1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
NFIX-MAST1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
NFIX-MAST1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
NFIX-MAST1 seems lost the major protein functional domain in Tgene partner, which is a kinase 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
HgeneNFIX

GO:0000122

negative regulation of transcription by RNA polymerase II

19706729

HgeneNFIX

GO:0045944

positive regulation of transcription by RNA polymerase II

19706729

TgeneMAST1

GO:0051294

establishment of spindle orientation

21822276

TgeneMAST1

GO:0051301

cell division

21822276



check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:13136366/chr19:12975623)
- 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 NFIX (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 MAST1 (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)
ENST00000397661NFIXchr1913136366+ENST00000251472MAST1chr1912975622+421778917341351320
ENST00000592199NFIXchr1913136366+ENST00000251472MAST1chr1912975622+3987559039051301
ENST00000587760NFIXchr1913136366+ENST00000251472MAST1chr1912975622+40045761439221302
ENST00000585575NFIXchr1913136366+ENST00000251472MAST1chr1912975622+3963535038811293
ENST00000360105NFIXchr1913136366+ENST00000251472MAST1chr1912975622+40616336539791304
ENST00000588228NFIXchr1913136366+ENST00000251472MAST1chr1912975622+40646365339821309
ENST00000587260NFIXchr1913136366+ENST00000251472MAST1chr1912975622+40426145839601300
ENST00000358552NFIXchr1913136366+ENST00000251472MAST1chr1912975622+3984556039021300
ENST00000397661NFIXchr1913136366+ENST00000251472MAST1chr1912975623+421778917341351320
ENST00000592199NFIXchr1913136366+ENST00000251472MAST1chr1912975623+3987559039051301
ENST00000587760NFIXchr1913136366+ENST00000251472MAST1chr1912975623+40045761439221302
ENST00000585575NFIXchr1913136366+ENST00000251472MAST1chr1912975623+3963535038811293
ENST00000360105NFIXchr1913136366+ENST00000251472MAST1chr1912975623+40616336539791304
ENST00000588228NFIXchr1913136366+ENST00000251472MAST1chr1912975623+40646365339821309
ENST00000587260NFIXchr1913136366+ENST00000251472MAST1chr1912975623+40426145839601300
ENST00000358552NFIXchr1913136366+ENST00000251472MAST1chr1912975623+3984556039021300

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
ENST00000397661ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0056780130.99432194
ENST00000592199ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0043286940.9956713
ENST00000587760ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0048254890.9951746
ENST00000585575ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0046203120.9953797
ENST00000360105ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0048303360.9951697
ENST00000588228ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0048395890.9951604
ENST00000587260ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0051953090.9948047
ENST00000358552ENST00000251472NFIXchr1913136366+MAST1chr1912975622+0.0049348390.99506515
ENST00000397661ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0056780130.99432194
ENST00000592199ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0043286940.9956713
ENST00000587760ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0048254890.9951746
ENST00000585575ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0046203120.9953797
ENST00000360105ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0048303360.9951697
ENST00000588228ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0048395890.9951604
ENST00000587260ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0051953090.9948047
ENST00000358552ENST00000251472NFIXchr1913136366+MAST1chr1912975623+0.0049348390.99506515

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 NFIX-MAST1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
NFIXchr1913136366MAST1chr1912975622535178ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622556185ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622559186ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622576187ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622614185ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622633189ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622636194ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975622789205ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623535178ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623556185ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623559186ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623576187ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623614185ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623633189ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623636194ELDLYLAYFVHTPGGDCATLLKNIGA
NFIXchr1913136366MAST1chr1912975623789205ELDLYLAYFVHTPGGDCATLLKNIGA

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Potential FusionNeoAntigen Information of NFIX-MAST1 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.
NFIX-MAST1_13136366_12975622.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)
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:06VHTPGGDCA0.86780.8397918
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:03TPGGDCATL0.83680.85171120
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:04TPGGDCATL0.59360.93131120
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:02TPGGDCATL0.59360.93131120
NFIX-MAST1chr1913136366chr1912975622556HLA-B81:01TPGGDCATL0.07110.7421120
NFIX-MAST1chr1913136366chr1912975622556HLA-B82:01TPGGDCATL0.01180.64221120
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:24VHTPGGDCATL0.99960.7392920
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:01VHTPGGDCATL0.99960.8775920
NFIX-MAST1chr1913136366chr1912975622556HLA-B38:02VHTPGGDCATL0.99820.9294920
NFIX-MAST1chr1913136366chr1912975622556HLA-B38:01VHTPGGDCATL0.99790.9239920
NFIX-MAST1chr1913136366chr1912975622556HLA-B07:10VHTPGGDCATL0.95820.5702920
NFIX-MAST1chr1913136366chr1912975622556HLA-B07:12TPGGDCATL0.82140.53471120
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:05VHTPGGDCA0.76460.8487918
NFIX-MAST1chr1913136366chr1912975622556HLA-B56:04TPGGDCATL0.71120.72561120
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:12TPGGDCATL0.59360.93131120
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:10TPGGDCATL0.42790.94881120
NFIX-MAST1chr1913136366chr1912975622556HLA-C01:17HTPGGDCATL0.97550.96461020
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:09VHTPGGDCATL0.99960.8029920
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:05VHTPGGDCATL0.99870.8625920
NFIX-MAST1chr1913136366chr1912975622556HLA-B56:02TPGGDCATL0.71120.72561120
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:09TPGGDCATL0.59360.93131120
NFIX-MAST1chr1913136366chr1912975622556HLA-B35:22TPGGDCATL0.58680.68981120
NFIX-MAST1chr1913136366chr1912975622556HLA-B67:01TPGGDCATL0.44540.93791120
NFIX-MAST1chr1913136366chr1912975622556HLA-B82:02TPGGDCATL0.01180.64221120
NFIX-MAST1chr1913136366chr1912975622556HLA-C01:03HTPGGDCATL0.9940.96821020
NFIX-MAST1chr1913136366chr1912975622556HLA-C01:02HTPGGDCATL0.98110.96391020
NFIX-MAST1chr1913136366chr1912975622556HLA-B38:05VHTPGGDCATL0.99790.9239920
NFIX-MAST1chr1913136366chr1912975622556HLA-B15:09VHTPGGDCATL0.99690.7839920
NFIX-MAST1chr1913136366chr1912975622556HLA-B39:11VHTPGGDCATL0.99280.8711920

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Potential FusionNeoAntigen Information of NFIX-MAST1 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 NFIX-MAST1

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
741AYFVHTPGGDCATLNFIXMAST1chr1913136366chr1912975622556

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NFIX-MAST1

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-B14:023BVN741AYFVHTPGGDCATL-7.9962-8.1096
HLA-B14:023BVN741AYFVHTPGGDCATL-5.70842-6.74372
HLA-B52:013W39741AYFVHTPGGDCATL-6.83737-6.95077
HLA-B52:013W39741AYFVHTPGGDCATL-4.4836-5.5189
HLA-A11:014UQ2741AYFVHTPGGDCATL-10.0067-10.1201
HLA-A11:014UQ2741AYFVHTPGGDCATL-9.03915-10.0745
HLA-A24:025HGA741AYFVHTPGGDCATL-6.56204-6.67544
HLA-A24:025HGA741AYFVHTPGGDCATL-5.42271-6.45801
HLA-B44:053DX8741AYFVHTPGGDCATL-7.85648-8.89178
HLA-B44:053DX8741AYFVHTPGGDCATL-5.3978-5.5112
HLA-A02:016TDR741AYFVHTPGGDCATL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of NFIX-MAST1

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
NFIX-MAST1chr1913136366chr19129756221020HTPGGDCATLACACTCCGGGCGGCGACTGTGCCACCCTGC
NFIX-MAST1chr1913136366chr19129756221120TPGGDCATLCTCCGGGCGGCGACTGTGCCACCCTGC
NFIX-MAST1chr1913136366chr1912975622918VHTPGGDCATCCACACTCCGGGCGGCGACTGTGCCA
NFIX-MAST1chr1913136366chr1912975622920VHTPGGDCATLTCCACACTCCGGGCGGCGACTGTGCCACCCTGC

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 NFIX-MAST1

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
CESCNFIX-MAST1chr1913136366ENST00000358552chr1912975622ENST00000251472TCGA-VS-A952

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Potential target of CAR-T therapy development for NFIX-MAST1

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 NFIX-MAST1

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 NFIX-MAST1

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