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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:ABI2-CHMP1A

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABI2-CHMP1A
FusionPDB ID: 456
FusionGDB2.0 ID: 456
HgeneTgene
Gene symbol

ABI2

CHMP1A

Gene ID

10152

5119

Gene nameabl interactor 2charged multivesicular body protein 1A
SynonymsABI-2|ABI2B|AIP-1|AIP1|AblBP3|SSH3BP2|argBP1|argBPIA|argBPIBCHMP1|PCH8|PCOLN3|PRSM1|VPS46-1|VPS46A
Cytomap

2q33.2

16q24.3

Type of geneprotein-codingprotein-coding
Descriptionabl interactor 2abelson interactor 2abl binding protein 3abl-interacting protein 1 (SH3-containing protein)abl-interactor protein 2barg protein tyrosine kinase-binding proteinarg-binding protein 1charged multivesicular body protein 1acharged multivesicular body protein 1/chromatin modifying protein 1chromatin modifying protein 1Aprocollagen (type III) N-endopeptidaseprotease, metallo, 1, 33kDvacuolar protein sorting-associated protein 46-1
Modification date2020032720200313
UniProtAcc

Q9NYB9

Main function of 5'-partner protein: FUNCTION: Regulator of actin cytoskeleton dynamics underlying cell motility and adhesion. Functions as a component of the WAVE complex, which activates actin nucleating machinery Arp2/3 to drive lamellipodia formation (PubMed:21107423). Acts as regulator and substrate of nonreceptor tyrosine kinases ABL1 and ABL2 involved in processes linked to cell growth and differentiation. Positively regulates ABL1-mediated phosphorylation of ENAH, which is required for proper polymerization of nucleated actin filaments at the leading edge (PubMed:7590236, PubMed:8649853, PubMed:10498863). Contributes to the regulation of actin assembly at the tips of neuron projections. In particular, controls dendritic spine morphogenesis and may promote dendritic spine specification toward large mushroom-type spines known as repositories of memory in the brain (By similarity). In hippocampal neurons, may mediate actin-dependent BDNF-NTRK2 early endocytic trafficking that triggers dendrite outgrowth (By similarity). Participates in ocular lens morphogenesis, likely by regulating lamellipodia-driven adherens junction formation at the epithelial cell-secondary lens fiber interface (By similarity). Also required for nascent adherens junction assembly in epithelial cells (PubMed:15572692). {ECO:0000250|UniProtKB:P62484, ECO:0000269|PubMed:10498863, ECO:0000269|PubMed:15572692, ECO:0000269|PubMed:21107423, ECO:0000269|PubMed:7590236, ECO:0000269|PubMed:8649853}.

Q9HD42

Main function of 5'-partner protein: FUNCTION: Probable peripherally associated component of the endosomal sorting required for transport complex III (ESCRT-III) which is involved in multivesicular bodies (MVBs) formation and sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. The MVB pathway appears to require the sequential function of ESCRT-O, -I,-II and -III complexes. ESCRT-III proteins mostly dissociate from the invaginating membrane before the ILV is released. The ESCRT machinery also functions in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses (HIV-1 and other lentiviruses). ESCRT-III proteins are believed to mediate the necessary vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. Involved in cytokinesis. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells. May also be involved in chromosome condensation. Targets the Polycomb group (PcG) protein BMI1/PCGF4 to regions of condensed chromatin. May play a role in stable cell cycle progression and in PcG gene silencing. {ECO:0000269|PubMed:11559747, ECO:0000269|PubMed:11559748, ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:23045692}.
Ensembl transtripts involved in fusion geneENST idsENST00000261016, ENST00000261017, 
ENST00000261018, ENST00000295851, 
ENST00000422511, ENST00000424558, 
ENST00000430418, ENST00000430574, 
ENST00000547614, ENST00000253475, 
ENST00000397901, ENST00000535997, 
ENST00000550102, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 7 X 8=78445 X 11 X 21=10395
# samples 1748
** MAII scorelog2(17/784*10)=-2.20531890797751
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(48/10395*10)=-4.43671154213721
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ABI2 [Title/Abstract] AND CHMP1A [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ABI2 [Title/Abstract] AND CHMP1A [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABI2(204291992)-CHMP1A(89713739), # samples:1
Anticipated loss of major functional domain due to fusion event.ABI2-CHMP1A 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.
ABI2-CHMP1A 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.
ABI2-CHMP1A 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.
ABI2-CHMP1A 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.
ABI2-CHMP1A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ABI2-CHMP1A seems lost the major protein functional domain in Hgene 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
HgeneABI2

GO:0016601

Rac protein signal transduction

21107423

HgeneABI2

GO:0018108

peptidyl-tyrosine phosphorylation

17101133

HgeneABI2

GO:2000601

positive regulation of Arp2/3 complex-mediated actin nucleation

21107423

TgeneCHMP1A

GO:0007076

mitotic chromosome condensation

11559747

TgeneCHMP1A

GO:0016192

vesicle-mediated transport

11559748

TgeneCHMP1A

GO:0016458

gene silencing

11559747

TgeneCHMP1A

GO:0045892

negative regulation of transcription, DNA-templated

11559747



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/chr2:204291992/chr16:89713739)
- 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 ABI2 (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 CHMP1A (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)
ENST00000295851ABI2chr2204291992-ENST00000253475CHMP1Achr1689713739-24083221161579913829656
ENST00000261017ABI2chr2204291992-ENST00000397901CHMP1Achr1689713739-836563912021569455
ENST00000261017ABI2chr2204291992-ENST00000535997CHMP1Achr1689713739-833363912021569455
ENST00000261017ABI2chr2204291992-ENST00000550102CHMP1Achr1689713739-690763912021569455
ENST00000261018ABI2chr2204291992-ENST00000397901CHMP1Achr1689713739-4118214417853278
ENST00000261018ABI2chr2204291992-ENST00000535997CHMP1Achr1689713739-4086214417853278
ENST00000261018ABI2chr2204291992-ENST00000550102CHMP1Achr1689713739-2660214417853278

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
ENST00000295851ENST00000253475ABI2chr2204291992-CHMP1Achr1689713739-0.0004198570.9995802
ENST00000261017ENST00000397901ABI2chr2204291992-CHMP1Achr1689713739-0.000239610.99976045
ENST00000261017ENST00000535997ABI2chr2204291992-CHMP1Achr1689713739-0.0002404740.9997595
ENST00000261017ENST00000550102ABI2chr2204291992-CHMP1Achr1689713739-0.0001639130.9998361
ENST00000261018ENST00000397901ABI2chr2204291992-CHMP1Achr1689713739-0.0065494770.9934505
ENST00000261018ENST00000535997ABI2chr2204291992-CHMP1Achr1689713739-0.00667370.9933263
ENST00000261018ENST00000550102ABI2chr2204291992-CHMP1Achr1689713739-0.0040589610.99594104

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 ABI2-CHMP1A

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
ABI2chr2204291992CHMP1Achr16897137392211636PYTASQPSPPLPPPPPPPPPPPPPPP

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Potential FusionNeoAntigen Information of ABI2-CHMP1A 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.
ABI2-CHMP1A_204291992_89713739.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)
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:01QPSPPLPPP0.940.9026514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:01SPPLPPPPP0.92940.6553716
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:01QPSPPLPPP0.92360.7927514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:01SPPLPPPPPP0.94880.7146717
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:01SQPSPPLPPP0.91490.538414
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:01SQPSPPLPPP0.90.6584414
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B54:01QPSPPLPPP0.97190.9608514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B78:01QPSPPLPPP0.82290.9579514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:04QPSPPLPPP0.61950.9568514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B54:01SPPLPPPPPP0.99320.8423717
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:02SPPLPPPPP0.93260.6234716
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:05QPSPPLPPP0.91890.8813514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:02QPSPPLPPP0.91650.8974514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B78:02SPPLPPPPP0.8920.8232716
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:05SPPLPPPPP0.87530.6572716
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B59:01QPSPPLPPP0.84780.9332514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B78:02QPSPPLPPP0.74490.962514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B56:02QPSPPLPPP0.61950.9568514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B67:01QPSPPLPPP0.33510.989514
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:02SPPLPPPPPP0.96390.6901717
ABI2-CHMP1Achr2204291992chr168971373922116HLA-B55:02SQPSPPLPPP0.92420.717414

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Potential FusionNeoAntigen Information of ABI2-CHMP1A 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 ABI2-CHMP1A

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
7005PSPPLPPPPPPPPPABI2CHMP1Achr2204291992chr168971373922116

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of ABI2-CHMP1A

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-B14:023BVN7005PSPPLPPPPPPPPP-7.15543-7.26883
HLA-B14:023BVN7005PSPPLPPPPPPPPP-4.77435-5.80965
HLA-B52:013W397005PSPPLPPPPPPPPP-6.80875-6.92215
HLA-B52:013W397005PSPPLPPPPPPPPP-4.20386-5.23916
HLA-A11:014UQ27005PSPPLPPPPPPPPP-7.5194-8.5547
HLA-A11:014UQ27005PSPPLPPPPPPPPP-6.9601-7.0735
HLA-A24:025HGA7005PSPPLPPPPPPPPP-7.52403-7.63743
HLA-A24:025HGA7005PSPPLPPPPPPPPP-5.82433-6.85963
HLA-B27:056PYJ7005PSPPLPPPPPPPPP-3.28285-4.31815
HLA-B44:053DX87005PSPPLPPPPPPPPP-5.91172-6.94702
HLA-B44:053DX87005PSPPLPPPPPPPPP-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of ABI2-CHMP1A

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
ABI2-CHMP1Achr2204291992chr1689713739414SQPSPPLPPPTTGAATAAATTTTATAAATATAAATAAGTG
ABI2-CHMP1Achr2204291992chr1689713739514QPSPPLPPPAATAAATTTTATAAATATAAATAAGTG
ABI2-CHMP1Achr2204291992chr1689713739716SPPLPPPPPTTTTATAAATATAAATAAGTGACCAAG
ABI2-CHMP1Achr2204291992chr1689713739717SPPLPPPPPPTTTTATAAATATAAATAAGTGACCAAGAAT

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 ABI2-CHMP1A

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
PCPGABI2-CHMP1Achr2204291992ENST00000295851chr1689713739ENST00000253475TCGA-S7-A7WO-01A

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Potential target of CAR-T therapy development for ABI2-CHMP1A

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 ABI2-CHMP1A

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 ABI2-CHMP1A

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