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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:GXYLT2-VAV1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: GXYLT2-VAV1
FusionPDB ID: 35419
FusionGDB2.0 ID: 35419
HgeneTgene
Gene symbol

GXYLT2

VAV1

Gene ID

727936

7409

Gene nameglucoside xylosyltransferase 2vav guanine nucleotide exchange factor 1
SynonymsGLT8D4VAV
Cytomap

3p13

19p13.3

Type of geneprotein-codingprotein-coding
Descriptionglucoside xylosyltransferase 2glycosyltransferase 8 domain containing 4glycosyltransferase 8 domain-containing protein 4proto-oncogene vavvav 1 guanine nucleotide exchange factorvav 1 oncogene
Modification date2020031320200313
UniProtAcc

A0PJZ3

Main function of 5'-partner protein: FUNCTION: Glycosyltransferase which elongates the O-linked glucose attached to EGF-like repeats in the extracellular domain of Notch proteins by catalyzing the addition of xylose. {ECO:0000269|PubMed:19940119}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000389617, ENST00000304076, 
ENST00000539284, ENST00000596764, 
ENST00000599806, ENST00000602142, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score7 X 5 X 5=17510 X 11 X 8=880
# samples 712
** MAII scorelog2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/880*10)=-2.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: GXYLT2 [Title/Abstract] AND VAV1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: GXYLT2 [Title/Abstract] AND VAV1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)GXYLT2(72971486)-VAV1(6821633), # samples:1
Anticipated loss of major functional domain due to fusion event.GXYLT2-VAV1 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.
GXYLT2-VAV1 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.
GXYLT2-VAV1 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.
GXYLT2-VAV1 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
HgeneGXYLT2

GO:0016266

O-glycan processing

19940119



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/chr3:72971486/chr19:6821633)
- 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 GXYLT2 (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 VAV1 (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)
ENST00000389617GXYLT2chr372971486-ENST00000304076VAV1chr196821633+3171761802911943
ENST00000389617GXYLT2chr372971486-ENST00000602142VAV1chr196821633+2978761802977966
ENST00000389617GXYLT2chr372971486-ENST00000596764VAV1chr196821633+3135761802881933
ENST00000389617GXYLT2chr372971486-ENST00000539284VAV1chr196821633+3135761802881933
ENST00000389617GXYLT2chr372971486-ENST00000599806VAV1chr196821633+3237761802977965

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
ENST00000389617ENST00000304076GXYLT2chr372971486-VAV1chr196821633+0.0096075110.99039257
ENST00000389617ENST00000602142GXYLT2chr372971486-VAV1chr196821633+0.0084813370.9915187
ENST00000389617ENST00000596764GXYLT2chr372971486-VAV1chr196821633+0.0077454370.9922545
ENST00000389617ENST00000539284GXYLT2chr372971486-VAV1chr196821633+0.0077454370.9922545
ENST00000389617ENST00000599806GXYLT2chr372971486-VAV1chr196821633+0.0070049470.9929951

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 GXYLT2-VAV1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
GXYLT2chr372971486VAV1chr19682163376135PPRRTMKLRSKAAALLLLALAALLLA

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Potential FusionNeoAntigen Information of GXYLT2-VAV1 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.
GXYLT2-VAV1_72971486_6821633.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)
GXYLT2-VAV1chr372971486chr196821633761HLA-B14:01LRSKAAAL0.99550.8604715
GXYLT2-VAV1chr372971486chr196821633761HLA-B14:02LRSKAAAL0.99550.8604715
GXYLT2-VAV1chr372971486chr196821633761HLA-B27:07LRSKAAALL0.99840.7169716
GXYLT2-VAV1chr372971486chr196821633761HLA-B27:04LRSKAAALL0.99770.7538716
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:01SKAAALLLL0.99560.7887918
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:17RSKAAALLL0.99550.9027817
GXYLT2-VAV1chr372971486chr196821633761HLA-A30:08RSKAAALLL0.9940.7632817
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:09KLRSKAAAL0.9940.6513615
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:16RSKAAALLL0.99310.895817
GXYLT2-VAV1chr372971486chr196821633761HLA-B58:02RSKAAALLL0.9930.8668817
GXYLT2-VAV1chr372971486chr196821633761HLA-B57:03RSKAAALLL0.98920.9711817
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:24LRSKAAALL0.97920.5733716
GXYLT2-VAV1chr372971486chr196821633761HLA-A30:08KLRSKAAAL0.9680.8072615
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:06MKLRSKAAA0.92620.8089514
GXYLT2-VAV1chr372971486chr196821633761HLA-A02:13KLRSKAAAL0.92330.7177615
GXYLT2-VAV1chr372971486chr196821633761HLA-B38:02LRSKAAALL0.71730.964716
GXYLT2-VAV1chr372971486chr196821633761HLA-B48:01SKAAALLLL0.68180.6405918
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:01MKLRSKAAAL0.98770.8823515
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:01TMKLRSKAAAL0.99940.8729415
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:12LRSKAAAL0.990.8232715
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:04RSKAAALLL0.99920.7979817
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:08AAALLLLAL0.99850.92061120
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:19AAALLLLAL0.99810.99281120
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:06RSKAAALLL0.99760.8139817
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:08RSKAAALLL0.99060.8869817
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:05LRSKAAALL0.98880.9563716
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:95LRSKAAALL0.98740.6857716
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:27LRSKAAALL0.96980.9396716
GXYLT2-VAV1chr372971486chr196821633761HLA-C02:06AAALLLLAL0.95560.98431120
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:29LRSKAAALL0.9530.9277716
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:12LRSKAAALL0.95110.8678716
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:13LRSKAAALL0.93730.9393716
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:04KLRSKAAAL0.93440.9477615
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:07KLRSKAAAL0.91190.8232615
GXYLT2-VAV1chr372971486chr196821633761HLA-C02:06RSKAAALLL0.88540.9056817
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:19LRSKAAALL0.85930.7998716
GXYLT2-VAV1chr372971486chr196821633761HLA-C12:16LRSKAAALL0.06320.962716
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:02KAAALLLL0.99990.81341018
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:09RSKAAALLL0.99920.7979817
GXYLT2-VAV1chr372971486chr196821633761HLA-B27:06LRSKAAALL0.99850.8128716
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:04AAALLLLAL0.99850.98591120
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:03AAALLLLAL0.99850.98591120
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:05RSKAAALLL0.99790.8421817
GXYLT2-VAV1chr372971486chr196821633761HLA-B27:08LRSKAAALL0.99780.7706716
GXYLT2-VAV1chr372971486chr196821633761HLA-B27:09LRSKAAALL0.99750.858716
GXYLT2-VAV1chr372971486chr196821633761HLA-C15:02RSKAAALLL0.99750.7812817
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:05AAALLLLAL0.99720.93451120
GXYLT2-VAV1chr372971486chr196821633761HLA-C03:17AAALLLLAL0.99670.96771120
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:02SKAAALLLL0.99640.8588918
GXYLT2-VAV1chr372971486chr196821633761HLA-B58:06RSKAAALLL0.99460.8271817
GXYLT2-VAV1chr372971486chr196821633761HLA-A30:01RSKAAALLL0.99440.8761817
GXYLT2-VAV1chr372971486chr196821633761HLA-A02:03KLRSKAAAL0.99030.7058615
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:01LRSKAAALL0.98910.6839716
GXYLT2-VAV1chr372971486chr196821633761HLA-A32:01RSKAAALLL0.98750.9081817
GXYLT2-VAV1chr372971486chr196821633761HLA-C16:02RSKAAALLL0.98390.9807817
GXYLT2-VAV1chr372971486chr196821633761HLA-C06:08LRSKAAALL0.96510.9861716
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:35KLRSKAAAL0.91010.9273615
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:73KLRSKAAAL0.90680.9462615
GXYLT2-VAV1chr372971486chr196821633761HLA-B35:13AAALLLLAL0.89840.88631120
GXYLT2-VAV1chr372971486chr196821633761HLA-B39:31LRSKAAALL0.89750.8642716
GXYLT2-VAV1chr372971486chr196821633761HLA-C17:01AAALLLLAL0.87310.98561120
GXYLT2-VAV1chr372971486chr196821633761HLA-C07:22LRSKAAALL0.86380.6754716
GXYLT2-VAV1chr372971486chr196821633761HLA-C06:08SKAAALLLL0.76010.9364918
GXYLT2-VAV1chr372971486chr196821633761HLA-B15:30KLRSKAAAL0.6830.9107615
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:12KLRSKAAAL0.68230.6027615
GXYLT2-VAV1chr372971486chr196821633761HLA-C06:17LRSKAAALL0.07260.9894716
GXYLT2-VAV1chr372971486chr196821633761HLA-C06:02LRSKAAALL0.07260.9894716
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:18MKLRSKAAAL0.98770.8823515
GXYLT2-VAV1chr372971486chr196821633761HLA-B08:18TMKLRSKAAAL0.99940.8729415

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Potential FusionNeoAntigen Information of GXYLT2-VAV1 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 GXYLT2-VAV1

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
4403KLRSKAAALLLLALGXYLT2VAV1chr372971486chr196821633761

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of GXYLT2-VAV1

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-B14:023BVN4403KLRSKAAALLLLAL-7.9962-8.1096
HLA-B14:023BVN4403KLRSKAAALLLLAL-5.70842-6.74372
HLA-B52:013W394403KLRSKAAALLLLAL-6.83737-6.95077
HLA-B52:013W394403KLRSKAAALLLLAL-4.4836-5.5189
HLA-A11:014UQ24403KLRSKAAALLLLAL-10.0067-10.1201
HLA-A11:014UQ24403KLRSKAAALLLLAL-9.03915-10.0745
HLA-A24:025HGA4403KLRSKAAALLLLAL-6.56204-6.67544
HLA-A24:025HGA4403KLRSKAAALLLLAL-5.42271-6.45801
HLA-B44:053DX84403KLRSKAAALLLLAL-7.85648-8.89178
HLA-B44:053DX84403KLRSKAAALLLLAL-5.3978-5.5112
HLA-A02:016TDR4403KLRSKAAALLLLAL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of GXYLT2-VAV1

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
GXYLT2-VAV1chr372971486chr1968216331018KAAALLLLTTTCTTCCGGTCATCTACACCCTG
GXYLT2-VAV1chr372971486chr1968216331120AAALLLLALCTTCCGGTCATCTACACCCTGTCTGCT
GXYLT2-VAV1chr372971486chr196821633415TMKLRSKAAALTGTGCTGCCCAGAGACTCTTTCTTCCGGTCATC
GXYLT2-VAV1chr372971486chr196821633514MKLRSKAAAGCTGCCCAGAGACTCTTTCTTCCGGTC
GXYLT2-VAV1chr372971486chr196821633515MKLRSKAAALGCTGCCCAGAGACTCTTTCTTCCGGTCATC
GXYLT2-VAV1chr372971486chr196821633615KLRSKAAALGCCCAGAGACTCTTTCTTCCGGTCATC
GXYLT2-VAV1chr372971486chr196821633715LRSKAAALCAGAGACTCTTTCTTCCGGTCATC
GXYLT2-VAV1chr372971486chr196821633716LRSKAAALLCAGAGACTCTTTCTTCCGGTCATCTAC
GXYLT2-VAV1chr372971486chr196821633817RSKAAALLLAGACTCTTTCTTCCGGTCATCTACACC
GXYLT2-VAV1chr372971486chr196821633918SKAAALLLLCTCTTTCTTCCGGTCATCTACACCCTG

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 GXYLT2-VAV1

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
LUADGXYLT2-VAV1chr372971486ENST00000389617chr196821633ENST00000304076TCGA-97-A4M5-01A

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Potential target of CAR-T therapy development for GXYLT2-VAV1

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
HgeneGXYLT2chr3:72971486chr19:6821633ENST00000389617-375_25200444.0TransmembraneHelical%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 GXYLT2-VAV1

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 GXYLT2-VAV1

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