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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:BCL7A-KCNIP3

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BCL7A-KCNIP3
FusionPDB ID: 9435
FusionGDB2.0 ID: 9435
HgeneTgene
Gene symbol

BCL7A

KCNIP3

Gene ID

605

30818

Gene nameBAF chromatin remodeling complex subunit BCL7Apotassium voltage-gated channel interacting protein 3
SynonymsBCL7CSEN|DREAM|KCHIP3
Cytomap

12q24.31

2q11.1

Type of geneprotein-codingprotein-coding
DescriptionB-cell CLL/lymphoma 7 protein family member AB-cell CLL/lymphoma 7AB-cell CLL/lymphoma-7BCL tumor suppressor 7ABCL7A, BAF complex componentcalsenilinA-type potassium channel modulatory protein 3DRE-antagonist modulatorKv channel interacting protein 3, calsenilincalsenilin, presenilin-binding protein, EF hand transcription factorkv channel-interacting protein 3potassium channel interact
Modification date2020031320200320
UniProtAcc

Q4VC05

Main function of 5'-partner protein:

Q9Y2W7

Main function of 5'-partner protein: FUNCTION: Calcium-dependent transcriptional repressor that binds to the DRE element of genes including PDYN and FOS. Affinity for DNA is reduced upon binding to calcium and enhanced by binding to magnesium. Seems to be involved in nociception (By similarity). {ECO:0000250|UniProtKB:Q9QXT8}.; FUNCTION: Regulatory subunit of Kv4/D (Shal)-type voltage-gated rapidly inactivating A-type potassium channels, such as KCND2/Kv4.2 and KCND3/Kv4.3. Modulates channel expression at the cell membrane, gating characteristics, inactivation kinetics and rate of recovery from inactivation in a calcium-dependent and isoform-specific manner. {ECO:0000269|PubMed:10676964, ECO:0000269|PubMed:12829703, ECO:0000269|PubMed:15485870, ECO:0000269|PubMed:16123112, ECO:0000269|PubMed:18957440}.; FUNCTION: May play a role in the regulation of PSEN2 proteolytic processing and apoptosis. Together with PSEN2 involved in modulation of amyloid-beta formation. {ECO:0000269|PubMed:11259376, ECO:0000269|PubMed:11988022, ECO:0000269|PubMed:9771752}.
Ensembl transtripts involved in fusion geneENST idsENST00000261822, ENST00000538010, 
ENST00000360990, ENST00000377181, 
ENST00000468529, ENST00000295225, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score8 X 6 X 6=2884 X 5 X 3=60
# samples 96
** MAII scorelog2(9/288*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Fusion gene context

PubMed: BCL7A [Title/Abstract] AND KCNIP3 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BCL7A [Title/Abstract] AND KCNIP3 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BCL7A(122473333)-KCNIP3(96040044), # samples:3
Anticipated loss of major functional domain due to fusion event.BCL7A-KCNIP3 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.
BCL7A-KCNIP3 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


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/chr12:122473333/chr2:96040044)
- 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 BCL7A (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 KCNIP3 (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)
ENST00000538010BCL7Achr12122473333+ENST00000295225KCNIP3chr296040044+5559294126703530286
ENST00000261822BCL7Achr12122473333+ENST00000295225KCNIP3chr296040044+30954772061066286

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
ENST00000538010ENST00000295225BCL7Achr12122473333+KCNIP3chr296040044+0.0014751830.99852484
ENST00000261822ENST00000295225BCL7Achr12122473333+KCNIP3chr296040044+0.0019121920.9980878

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 BCL7A-KCNIP3

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BCL7Achr12122473333KCNIP3chr296040044294190PENSSSPGMMDMHDSSDSELELSTVR
BCL7Achr12122473333KCNIP3chr29604004447790PENSSSPGMMDMHDSSDSELELSTVR

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Potential FusionNeoAntigen Information of BCL7A-KCNIP3 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.
BCL7A-KCNIP3_122473333_96040044.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)
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:01MHDSSDSEL0.99830.91411120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:02MHDSSDSEL0.99690.93491120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:13MHDSSDSEL0.99680.90721120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:01MHDSSDSEL0.99660.92351120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:06MHDSSDSEL0.99430.74551120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:37MHDSSDSEL0.89440.53781120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B14:02MHDSSDSEL0.83440.74351120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B14:01MHDSSDSEL0.83440.74351120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:18MHDSSDSEL0.81210.70161120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:01DMHDSSDSEL0.55740.90161020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:02DMHDSSDSEL0.41830.91331020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:01DMHDSSDSEL0.41050.90171020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:01MHDSSDSELEL0.99980.95371122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:01MHDSSDSELEL0.99960.97061122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:02MHDSSDSELEL0.99960.97411122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:10MHDSSDSELEL0.99910.52381122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:10MDMHDSSDSEL0.99770.6155920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:37MHDSSDSELEL0.99290.52541122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:01MDMHDSSDSEL0.98540.957920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:01MDMHDSSDSEL0.94980.967920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:02MDMHDSSDSEL0.94680.9752920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:09MHDSSDSEL0.99840.62281120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:12MHDSSDSEL0.99750.9181120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:05MHDSSDSEL0.99660.8951120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:07MHDSSDSEL0.99430.72511120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:10MHDSSDSEL0.99370.71461120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C08:15MHDSSDSEL0.99150.95741120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:08MHDSSDSEL0.80630.80051120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C07:13MHDSSDSEL0.74290.87361120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C07:29MHDSSDSEL0.68040.90111120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:14MHDSSDSEL0.48060.7241120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B14:03MHDSSDSEL0.47310.83781120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:09DMHDSSDSEL0.70160.66721020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:05DMHDSSDSEL0.40950.88571020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:09MHDSSDSELEL0.99980.72851122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:05MHDSSDSELEL0.99960.94121122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:09MDMHDSSDSEL0.98960.6126920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:05MDMHDSSDSEL0.95770.9484920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11HDSSDSEL0.98090.78541220
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:31MHDSSDSEL0.99830.91231120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:02MHDSSDSEL0.99810.91191120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:05MHDSSDSEL0.99660.92351120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:01MHDSSDSEL0.99430.72511120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:03MHDSSDSEL0.99330.76031120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C18:01MHDSSDSEL0.99160.72041120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C08:02MHDSSDSEL0.99150.95741120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:09MHDSSDSEL0.98010.73891120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C03:67MHDSSDSEL0.93510.97151120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11MHDSSDSEL0.88010.80581120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C04:04MHDSSDSEL0.760.82561120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-C07:04MHDSSDSEL0.59940.87531120
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11MHDSSDSELE0.93750.8351121
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11DMHDSSDSEL0.660.79671020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:09DMHDSSDSEL0.49940.64641020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:05DMHDSSDSEL0.41050.90171020
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:31MHDSSDSELEL0.99980.95361122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:05MHDSSDSELEL0.99960.97061122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11MHDSSDSELEL0.99880.9051122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:09MHDSSDSELEL0.99810.79791122
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B39:11MDMHDSSDSEL0.99490.89920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B15:09MDMHDSSDSEL0.98630.7578920
BCL7A-KCNIP3chr12122473333chr296040044477HLA-B38:05MDMHDSSDSEL0.94980.967920

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Potential FusionNeoAntigen Information of BCL7A-KCNIP3 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 BCL7A-KCNIP3

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
6657PGMMDMHDSSDSELBCL7AKCNIP3chr12122473333chr296040044477

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BCL7A-KCNIP3

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-B14:023BVN6657PGMMDMHDSSDSEL-7.15543-7.26883
HLA-B14:023BVN6657PGMMDMHDSSDSEL-4.77435-5.80965
HLA-B52:013W396657PGMMDMHDSSDSEL-6.80875-6.92215
HLA-B52:013W396657PGMMDMHDSSDSEL-4.20386-5.23916
HLA-A11:014UQ26657PGMMDMHDSSDSEL-7.5194-8.5547
HLA-A11:014UQ26657PGMMDMHDSSDSEL-6.9601-7.0735
HLA-A24:025HGA6657PGMMDMHDSSDSEL-7.52403-7.63743
HLA-A24:025HGA6657PGMMDMHDSSDSEL-5.82433-6.85963
HLA-B27:056PYJ6657PGMMDMHDSSDSEL-3.28285-4.31815
HLA-B44:053DX86657PGMMDMHDSSDSEL-5.91172-6.94702
HLA-B44:053DX86657PGMMDMHDSSDSEL-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of BCL7A-KCNIP3

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
BCL7A-KCNIP3chr12122473333chr2960400441020DMHDSSDSELACATGCATGATAGCAGCGACAGTGAGCTGG
BCL7A-KCNIP3chr12122473333chr2960400441120MHDSSDSELTGCATGATAGCAGCGACAGTGAGCTGG
BCL7A-KCNIP3chr12122473333chr2960400441121MHDSSDSELETGCATGATAGCAGCGACAGTGAGCTGGAGC
BCL7A-KCNIP3chr12122473333chr2960400441122MHDSSDSELELTGCATGATAGCAGCGACAGTGAGCTGGAGCTGT
BCL7A-KCNIP3chr12122473333chr2960400441220HDSSDSELATGATAGCAGCGACAGTGAGCTGG
BCL7A-KCNIP3chr12122473333chr296040044920MDMHDSSDSELTGGACATGCATGATAGCAGCGACAGTGAGCTGG

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 BCL7A-KCNIP3

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
BRCABCL7A-KCNIP3chr12122473333ENST00000261822chr296040044ENST00000295225TCGA-AO-A03U-01B

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Potential target of CAR-T therapy development for BCL7A-KCNIP3

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 BCL7A-KCNIP3

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 BCL7A-KCNIP3

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