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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:BPTF-LRRC37A

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: BPTF-LRRC37A
FusionPDB ID: 10091
FusionGDB2.0 ID: 10091
HgeneTgene
Gene symbol

BPTF

LRRC37A

Gene ID

2186

105376839

Gene namebromodomain PHD finger transcription factoruncharacterized LOC105376839
SynonymsFAC1|FALZ|NEDDFL|NURF301LRRC37A
Cytomap

17q24.2

17q21.31

Type of geneprotein-codingncRNA
Descriptionnucleosome-remodeling factor subunit BPTFbromodomain and PHD domain transcription factorbromodomain and PHD finger-containing transcription factorfetal Alz-50 clone 1 proteinfetal Alz-50 reactive clone 1fetal Alzheimer antigennucleosome remodeling fleucine rich repeat containing 37A
Modification date2020031320200313
UniProtAcc

Q12830

Main function of 5'-partner protein: FUNCTION: Histone-binding component of NURF (nucleosome-remodeling factor), a complex which catalyzes ATP-dependent nucleosome sliding and facilitates transcription of chromatin. Specifically recognizes H3 tails trimethylated on 'Lys-4' (H3K4me3), which mark transcription start sites of virtually all active genes. May also regulate transcription through direct binding to DNA or transcription factors.

O60309

Main function of 5'-partner protein:
Ensembl transtripts involved in fusion geneENST idsENST00000306378, ENST00000321892, 
ENST00000335221, ENST00000424123, 
ENST00000577770, 
ENST00000320254, 
ENST00000393465, ENST00000496930, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score27 X 21 X 13=73717 X 7 X 6=294
# samples 427
** MAII scorelog2(42/7371*10)=-4.1333991254172
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: BPTF [Title/Abstract] AND LRRC37A [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: BPTF [Title/Abstract] AND LRRC37A [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)BPTF(65822453)-LRRC37A(44407815), # samples:1
Anticipated loss of major functional domain due to fusion event.BPTF-LRRC37A 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.
BPTF-LRRC37A 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.
BPTF-LRRC37A 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.
BPTF-LRRC37A 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
HgeneBPTF

GO:0000122

negative regulation of transcription by RNA polymerase II

10727212

HgeneBPTF

GO:0006338

chromatin remodeling

14609955



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/chr17:65822453/chr17:44407815)
- 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 BPTF (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 LRRC37A (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)
ENST00000335221BPTFchr1765822453+ENST00000496930LRRC37Achr1744407815+2674674612604847
ENST00000335221BPTFchr1765822453+ENST00000393465LRRC37Achr1744407815+2464674612409782
ENST00000335221BPTFchr1765822453+ENST00000320254LRRC37Achr1744407815+2676674612604847
ENST00000321892BPTFchr1765822453+ENST00000496930LRRC37Achr1744407815+2674674612604847
ENST00000321892BPTFchr1765822453+ENST00000393465LRRC37Achr1744407815+2464674612409782
ENST00000321892BPTFchr1765822453+ENST00000320254LRRC37Achr1744407815+2676674612604847
ENST00000306378BPTFchr1765822453+ENST00000496930LRRC37Achr1744407815+2673673602603847
ENST00000306378BPTFchr1765822453+ENST00000393465LRRC37Achr1744407815+2463673602408782
ENST00000306378BPTFchr1765822453+ENST00000320254LRRC37Achr1744407815+2675673602603847
ENST00000424123BPTFchr1765822453+ENST00000496930LRRC37Achr1744407815+219619602126708
ENST00000424123BPTFchr1765822453+ENST00000393465LRRC37Achr1744407815+198619601931643
ENST00000424123BPTFchr1765822453+ENST00000320254LRRC37Achr1744407815+219819602126708

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
ENST00000335221ENST00000496930BPTFchr1765822453+LRRC37Achr1744407815+0.0073441710.9926559
ENST00000335221ENST00000393465BPTFchr1765822453+LRRC37Achr1744407815+0.0100352240.9899648
ENST00000335221ENST00000320254BPTFchr1765822453+LRRC37Achr1744407815+0.0074554230.99254465
ENST00000321892ENST00000496930BPTFchr1765822453+LRRC37Achr1744407815+0.0073441710.9926559
ENST00000321892ENST00000393465BPTFchr1765822453+LRRC37Achr1744407815+0.0100352240.9899648
ENST00000321892ENST00000320254BPTFchr1765822453+LRRC37Achr1744407815+0.0074554230.99254465
ENST00000306378ENST00000496930BPTFchr1765822453+LRRC37Achr1744407815+0.0073385320.9926615
ENST00000306378ENST00000393465BPTFchr1765822453+LRRC37Achr1744407815+0.0100248320.98997515
ENST00000306378ENST00000320254BPTFchr1765822453+LRRC37Achr1744407815+0.0074497340.99255025
ENST00000424123ENST00000496930BPTFchr1765822453+LRRC37Achr1744407815+0.0075648090.99243516
ENST00000424123ENST00000393465BPTFchr1765822453+LRRC37Achr1744407815+0.0093316810.99066836
ENST00000424123ENST00000320254BPTFchr1765822453+LRRC37Achr1744407815+0.0077868120.9922132

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 BPTF-LRRC37A

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
BPTFchr1765822453LRRC37Achr174440781519665SSFRSHSTYSSTPAEEASVGNPEGAF

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Potential FusionNeoAntigen Information of BPTF-LRRC37A 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.
BPTF-LRRC37A_65822453_44407815.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)
BPTF-LRRC37Achr1765822453chr1744407815196HLA-B39:06SHSTYSSTPA0.99480.7083414
BPTF-LRRC37Achr1765822453chr1744407815196HLA-C01:17STPAEEASV0.61440.95951019
BPTF-LRRC37Achr1765822453chr1744407815196HLA-C01:30STPAEEASV0.44780.97521019
BPTF-LRRC37Achr1765822453chr1744407815196HLA-B51:29TPAEEASV0.92560.61251119
BPTF-LRRC37Achr1765822453chr1744407815196HLA-C01:03STPAEEASV0.82210.9341019
BPTF-LRRC37Achr1765822453chr1744407815196HLA-C01:02STPAEEASV0.71360.95711019

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Potential FusionNeoAntigen Information of BPTF-LRRC37A 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.
BPTF-LRRC37A_65822453_44407815.msa

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)
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0113HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0117HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0121HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0464HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0469HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0469SHSTYSSTPAEEASV419
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0474HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0903HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-0908HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-1001HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-1003HSTYSSTPAEEASVG520
BPTF-LRRC37Achr1765822453chr1744407815196DRB1-1367SSFRSHSTYSSTPAE015

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Fusion breakpoint peptide structures of BPTF-LRRC37A

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
9135STYSSTPAEEASVGBPTFLRRC37Achr1765822453chr1744407815196

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of BPTF-LRRC37A

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-B14:023BVN9135STYSSTPAEEASVG-7.15543-7.26883
HLA-B14:023BVN9135STYSSTPAEEASVG-4.77435-5.80965
HLA-B52:013W399135STYSSTPAEEASVG-6.80875-6.92215
HLA-B52:013W399135STYSSTPAEEASVG-4.20386-5.23916
HLA-A11:014UQ29135STYSSTPAEEASVG-7.5194-8.5547
HLA-A11:014UQ29135STYSSTPAEEASVG-6.9601-7.0735
HLA-A24:025HGA9135STYSSTPAEEASVG-7.52403-7.63743
HLA-A24:025HGA9135STYSSTPAEEASVG-5.82433-6.85963
HLA-B27:056PYJ9135STYSSTPAEEASVG-3.28285-4.31815
HLA-B44:053DX89135STYSSTPAEEASVG-5.91172-6.94702
HLA-B44:053DX89135STYSSTPAEEASVG-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of BPTF-LRRC37A

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
BPTF-LRRC37Achr1765822453chr17444078151019STPAEEASVGCACTCCAGCTGAAGAAGCATCGGTAG
BPTF-LRRC37Achr1765822453chr17444078151119TPAEEASVCTCCAGCTGAAGAAGCATCGGTAG
BPTF-LRRC37Achr1765822453chr1744407815414SHSTYSSTPAGCCATAGTACCTACAGCAGCACTCCAGCTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
BPTF-LRRC37Achr1765822453chr1744407815015SSFRSHSTYSSTPAEGCAGCTTCAGGAGCCATAGTACCTACAGCAGCACTCCAGCTGAAG
BPTF-LRRC37Achr1765822453chr1744407815419SHSTYSSTPAEEASVGCCATAGTACCTACAGCAGCACTCCAGCTGAAGAAGCATCGGTAG
BPTF-LRRC37Achr1765822453chr1744407815520HSTYSSTPAEEASVGATAGTACCTACAGCAGCACTCCAGCTGAAGAAGCATCGGTAGGGA

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Information of the samples that have these potential fusion neoantigens of BPTF-LRRC37A

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
STADBPTF-LRRC37Achr1765822453ENST00000424123chr1744407815ENST00000320254TCGA-FP-A4BE

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Potential target of CAR-T therapy development for BPTF-LRRC37A

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
TgeneLRRC37Achr17:65822453chr17:44407815ENST000003202547141583_160301701.0TransmembraneHelical

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 BPTF-LRRC37A

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 BPTF-LRRC37A

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