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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:ASAP1-PTK2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ASAP1-PTK2
FusionPDB ID: 6968
FusionGDB2.0 ID: 6968
HgeneTgene
Gene symbol

ASAP1

PTK2

Gene ID

50807

5747

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 1protein tyrosine kinase 2
SynonymsAMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14PFADK|FAK|FAK1|FRNK|PPP1R71|p125FAK|pp125FAK
Cytomap

8q24.21-q24.22

8q24.3

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosylfocal adhesion kinase 1FADK 1FAK-related non-kinase polypeptidePTK2 protein tyrosine kinase 2focal adhesion kinase isoform FAK-Del33focal adhesion kinase-related nonkinaseprotein phosphatase 1 regulatory subunit 71
Modification date2020032720200327
UniProtAcc

Q9ULH1

Main function of 5'-partner protein: FUNCTION: Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADP ribosylation factor 1) and ARF5 and a lesser activity towards ARF6. May coordinate membrane trafficking with cell growth or actin cytoskeleton remodeling by binding to both SRC and PIP2. May function as a signal transduction protein involved in the differentiation of fibroblasts into adipocytes and possibly other cell types (By similarity). Plays a role in ciliogenesis. {ECO:0000250, ECO:0000269|PubMed:20393563}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000357668, ENST00000518721, 
ENST00000520625, 
ENST00000517712, 
ENST00000519635, ENST00000519881, 
ENST00000520151, ENST00000520892, 
ENST00000522950, ENST00000340930, 
ENST00000395218, ENST00000430260, 
ENST00000517887, ENST00000519419, 
ENST00000519465, ENST00000521059, 
ENST00000522684, ENST00000535192, 
ENST00000538769, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score25 X 17 X 13=552519 X 20 X 13=4940
# samples 2829
** MAII scorelog2(28/5525*10)=-4.30247573222119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(29/4940*10)=-4.09038623645711
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ASAP1 [Title/Abstract] AND PTK2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ASAP1 [Title/Abstract] AND PTK2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ASAP1(131370263)-PTK2(141685598), # samples:1
Anticipated loss of major functional domain due to fusion event.ASAP1-PTK2 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.
ASAP1-PTK2 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.
ASAP1-PTK2 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.
ASAP1-PTK2 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.
ASAP1-PTK2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ASAP1-PTK2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ASAP1-PTK2 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
TgenePTK2

GO:0007179

transforming growth factor beta receptor signaling pathway

24036928

TgenePTK2

GO:0007229

integrin-mediated signaling pathway

24036928

TgenePTK2

GO:0010763

positive regulation of fibroblast migration

26763945

TgenePTK2

GO:0018108

peptidyl-tyrosine phosphorylation

10655584|11331870

TgenePTK2

GO:0022408

negative regulation of cell-cell adhesion

21703394

TgenePTK2

GO:0030335

positive regulation of cell migration

11331870|21703394

TgenePTK2

GO:0033628

regulation of cell adhesion mediated by integrin

10655584

TgenePTK2

GO:0046777

protein autophosphorylation

10655584|11331870

TgenePTK2

GO:0048013

ephrin receptor signaling pathway

10655584

TgenePTK2

GO:0060396

growth hormone receptor signaling pathway

10925297

TgenePTK2

GO:0090303

positive regulation of wound healing

26763945



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/chr8:131370263/chr8:141685598)
- 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 ASAP1 (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 PTK2 (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)
ENST00000357668ASAP1chr8131370263-ENST00000522684PTK2chr8141685598-237721428810260
ENST00000357668ASAP1chr8131370263-ENST00000535192PTK2chr8141685598-188621428810260
ENST00000357668ASAP1chr8131370263-ENST00000519465PTK2chr8141685598-187521428810260
ENST00000357668ASAP1chr8131370263-ENST00000517887PTK2chr8141685598-187521428810260
ENST00000357668ASAP1chr8131370263-ENST00000521059PTK2chr8141685598-187521428810260
ENST00000357668ASAP1chr8131370263-ENST00000395218PTK2chr8141685598-191421428849273
ENST00000357668ASAP1chr8131370263-ENST00000538769PTK2chr8141685598-187221428810260
ENST00000357668ASAP1chr8131370263-ENST00000340930PTK2chr8141685598-191121428849273
ENST00000357668ASAP1chr8131370263-ENST00000519419PTK2chr8141685598-164721428810260
ENST00000357668ASAP1chr8131370263-ENST00000430260PTK2chr8141685598-120421428810260

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
ENST00000357668ENST00000522684ASAP1chr8131370263-PTK2chr8141685598-0.002124350.9978757
ENST00000357668ENST00000535192ASAP1chr8131370263-PTK2chr8141685598-0.0021232960.99787676
ENST00000357668ENST00000519465ASAP1chr8131370263-PTK2chr8141685598-0.0022503370.9977496
ENST00000357668ENST00000517887ASAP1chr8131370263-PTK2chr8141685598-0.0022503370.9977496
ENST00000357668ENST00000521059ASAP1chr8131370263-PTK2chr8141685598-0.0022503370.9977496
ENST00000357668ENST00000395218ASAP1chr8131370263-PTK2chr8141685598-0.0008936350.99910635
ENST00000357668ENST00000538769ASAP1chr8131370263-PTK2chr8141685598-0.0023112280.9976888
ENST00000357668ENST00000340930ASAP1chr8131370263-PTK2chr8141685598-0.0009379690.999062
ENST00000357668ENST00000519419ASAP1chr8131370263-PTK2chr8141685598-0.0046697420.99533033
ENST00000357668ENST00000430260ASAP1chr8131370263-PTK2chr8141685598-0.0089132960.99108666

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 ASAP1-PTK2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ASAP1chr8131370263PTK2chr814168559821462LHNCRNTVTLLEEIGNQHIYQPVGKP

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Potential FusionNeoAntigen Information of ASAP1-PTK2 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.
ASAP1-PTK2_131370263_141685598.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)
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:01EIGNQHIY0.86620.64521220
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:03EEIGNQHIY0.99940.77271120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:01EEIGNQHIY0.99790.69211120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B41:01LEEIGNQHI0.3480.82141019
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:03LEEIGNQHIY0.99830.69571020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:01LEEIGNQHIY0.98260.76181020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B45:01EEIGNQHIYQP0.99860.66891122
ASAP1-PTK2chr8131370263chr8141685598214HLA-B15:31EEIGNQHIY0.66790.5751120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B39:08LEEIGNQHI0.38830.62591019
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:05EIGNQHIY0.86620.64521220
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:11EIGNQHIY0.82760.51781220
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:26EEIGNQHIY0.99940.77271120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:13EEIGNQHIY0.99940.77271120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:07EEIGNQHIY0.99940.77271120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:04EEIGNQHIY0.99890.72351120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:07EEIGNQHIY0.99830.6421120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:08EEIGNQHIY0.9980.57441120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:05EEIGNQHIY0.99790.69211120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:06EEIGNQHIY0.99710.69161120
ASAP1-PTK2chr8131370263chr8141685598214HLA-A69:01NTVTLLEEI0.99420.5221514
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:11EEIGNQHIY0.99080.51091120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:03EEIGNQHIY0.99010.67761120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B35:28EEIGNQHIY0.72040.68151120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B35:20EEIGNQHIY0.64880.70511120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B15:12EEIGNQHIY0.62360.75161120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B48:02EEIGNQHIY0.30510.63841120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B15:53EEIGNQHIY0.24630.5941120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B15:54EEIGNQHIY0.04250.55891120
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:13LEEIGNQHIY0.99830.69571020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:26LEEIGNQHIY0.99830.69571020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B44:07LEEIGNQHIY0.99830.69571020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:04LEEIGNQHIY0.98790.78441020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:05LEEIGNQHIY0.98260.76181020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B15:53LEEIGNQHIY0.98210.52421020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:06LEEIGNQHIY0.97960.76521020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:11LEEIGNQHIY0.8730.64381020
ASAP1-PTK2chr8131370263chr8141685598214HLA-B18:11LLEEIGNQHIY0.97470.7172920

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Potential FusionNeoAntigen Information of ASAP1-PTK2 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 ASAP1-PTK2

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
9740TVTLLEEIGNQHIYASAP1PTK2chr8131370263chr8141685598214

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ASAP1-PTK2

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-B14:023BVN9740TVTLLEEIGNQHIY-7.24289-7.35629
HLA-B14:023BVN9740TVTLLEEIGNQHIY-6.44411-7.47941
HLA-B52:013W399740TVTLLEEIGNQHIY-6.85231-6.96571
HLA-B52:013W399740TVTLLEEIGNQHIY-5.09533-6.13063
HLA-A11:014UQ29740TVTLLEEIGNQHIY-8.61576-8.72916
HLA-A24:025HGA9740TVTLLEEIGNQHIY-6.80714-7.84244
HLA-A24:025HGA9740TVTLLEEIGNQHIY-6.33574-6.44914
HLA-B44:053DX89740TVTLLEEIGNQHIY-7.01739-7.13079
HLA-B44:053DX89740TVTLLEEIGNQHIY-3.37818-4.41348

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Vaccine Design for the FusionNeoAntigens of ASAP1-PTK2

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
ASAP1-PTK2chr8131370263chr81416855981019LEEIGNQHICTGGAGGAGATTGGAAACCAACATATA
ASAP1-PTK2chr8131370263chr81416855981020LEEIGNQHIYCTGGAGGAGATTGGAAACCAACATATATAT
ASAP1-PTK2chr8131370263chr81416855981120EEIGNQHIYGAGGAGATTGGAAACCAACATATATAT
ASAP1-PTK2chr8131370263chr81416855981122EEIGNQHIYQPGAGGAGATTGGAAACCAACATATATATCAGCCT
ASAP1-PTK2chr8131370263chr81416855981220EIGNQHIYGAGATTGGAAACCAACATATATAT
ASAP1-PTK2chr8131370263chr8141685598514NTVTLLEEIAACACCGTCACGCTGCTGGAGGAGATT
ASAP1-PTK2chr8131370263chr8141685598920LLEEIGNQHIYCTGCTGGAGGAGATTGGAAACCAACATATATAT

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 ASAP1-PTK2

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
Non-CancerASAP1-PTK2chr8131370263ENST00000357668chr8141685598ENST00000340930TCGA-IP-7968-11A

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Potential target of CAR-T therapy development for ASAP1-PTK2

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 ASAP1-PTK2

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 ASAP1-PTK2

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