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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:WHSC1L1-RSF1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: WHSC1L1-RSF1
FusionPDB ID: 99218
FusionGDB2.0 ID: 99218
HgeneTgene
Gene symbol

WHSC1L1

RSF1

Gene ID

54904

51773

Gene namenuclear receptor binding SET domain protein 3remodeling and spacing factor 1
SynonymsKMT3F|KMT3G|WHISTLE|WHSC1L1|pp14328HBXAP|RSF-1|XAP8|p325
Cytomap

8p11.23

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase NSD3WHSC1-like 1 isoform 9 with methyltransferase activity to lysineWolf-Hirschhorn syndrome candidate 1-like 1nuclear SET domain-containing protein 3protein whistleremodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complex
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000316985, ENST00000317025, 
ENST00000433384, ENST00000527502, 
ENST00000525081, 
ENST00000530604, 
ENST00000308488, ENST00000360355, 
ENST00000480887, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score31 X 27 X 13=1088116 X 11 X 7=1232
# samples 4619
** MAII scorelog2(46/10881*10)=-4.56403347974706
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1232*10)=-2.69693093236395
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: WHSC1L1 [Title/Abstract] AND RSF1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: WHSC1L1 [Title/Abstract] AND RSF1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)WHSC1L1(38194823)-RSF1(77402283), # samples:1
Anticipated loss of major functional domain due to fusion event.WHSC1L1-RSF1 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.
WHSC1L1-RSF1 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.
WHSC1L1-RSF1 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.
WHSC1L1-RSF1 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
HgeneWHSC1L1

GO:0016571

histone methylation

16682010

TgeneRSF1

GO:0006334

nucleosome assembly

12972596

TgeneRSF1

GO:0006338

chromatin remodeling

9836642

TgeneRSF1

GO:0006352

DNA-templated transcription, initiation

9836642

TgeneRSF1

GO:0016584

nucleosome positioning

9836642

TgeneRSF1

GO:0043392

negative regulation of DNA binding

12972596

TgeneRSF1

GO:0045892

negative regulation of transcription, DNA-templated

11944984

TgeneRSF1

GO:0045893

positive regulation of transcription, DNA-templated

11788598

TgeneRSF1

GO:0050434

positive regulation of viral transcription

11788598



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/chr8:38194823/chr11:77402283)
- 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 WHSC1L1 (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 RSF1 (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)
ENST00000317025WHSC1L1chr838194823-ENST00000308488RSF1chr1177402283-9855142812842933549
ENST00000317025WHSC1L1chr838194823-ENST00000360355RSF1chr1177402283-3621142812842933549
ENST00000317025WHSC1L1chr838194823-ENST00000480887RSF1chr1177402283-3621142812842933549
ENST00000433384WHSC1L1chr838194823-ENST00000308488RSF1chr1177402283-9828140112572906549
ENST00000433384WHSC1L1chr838194823-ENST00000360355RSF1chr1177402283-3594140112572906549
ENST00000433384WHSC1L1chr838194823-ENST00000480887RSF1chr1177402283-3594140112572906549
ENST00000527502WHSC1L1chr838194823-ENST00000308488RSF1chr1177402283-942910028582507549
ENST00000527502WHSC1L1chr838194823-ENST00000360355RSF1chr1177402283-319510028582507549
ENST00000527502WHSC1L1chr838194823-ENST00000480887RSF1chr1177402283-319510028582507549
ENST00000316985WHSC1L1chr838194823-ENST00000308488RSF1chr1177402283-9855142812842933549
ENST00000316985WHSC1L1chr838194823-ENST00000360355RSF1chr1177402283-3621142812842933549
ENST00000316985WHSC1L1chr838194823-ENST00000480887RSF1chr1177402283-3621142812842933549

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
ENST00000317025ENST00000308488WHSC1L1chr838194823-RSF1chr1177402283-0.0003188150.99968123
ENST00000317025ENST00000360355WHSC1L1chr838194823-RSF1chr1177402283-0.0025003120.99749964
ENST00000317025ENST00000480887WHSC1L1chr838194823-RSF1chr1177402283-0.0025003120.99749964
ENST00000433384ENST00000308488WHSC1L1chr838194823-RSF1chr1177402283-0.0003201140.9996799
ENST00000433384ENST00000360355WHSC1L1chr838194823-RSF1chr1177402283-0.0025368460.9974631
ENST00000433384ENST00000480887WHSC1L1chr838194823-RSF1chr1177402283-0.0025368460.9974631
ENST00000527502ENST00000308488WHSC1L1chr838194823-RSF1chr1177402283-0.0002998750.9997002
ENST00000527502ENST00000360355WHSC1L1chr838194823-RSF1chr1177402283-0.0033886620.9966113
ENST00000527502ENST00000480887WHSC1L1chr838194823-RSF1chr1177402283-0.0033886620.9966113
ENST00000316985ENST00000308488WHSC1L1chr838194823-RSF1chr1177402283-0.0003188150.99968123
ENST00000316985ENST00000360355WHSC1L1chr838194823-RSF1chr1177402283-0.0025003120.99749964
ENST00000316985ENST00000480887WHSC1L1chr838194823-RSF1chr1177402283-0.0025003120.99749964

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 WHSC1L1-RSF1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
WHSC1L1chr838194823RSF1chr1177402283100248IPSLRFILKLTQEKLLCEKLEEQLQD
WHSC1L1chr838194823RSF1chr1177402283140148IPSLRFILKLTQEKLLCEKLEEQLQD
WHSC1L1chr838194823RSF1chr1177402283142848IPSLRFILKLTQEKLLCEKLEEQLQD

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Potential FusionNeoAntigen Information of WHSC1L1-RSF1 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.
WHSC1L1-RSF1_38194823_77402283.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)
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B08:01ILKLTQEKL0.83420.8737615
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B40:04QEKLLCEKL0.99430.57191120
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B08:18ILKLTQEKL0.83420.8737615
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B15:73ILKLTQEKL0.79320.9443615
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B15:30ILKLTQEKL0.62710.8578615
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B08:12ILKLTQEKL0.56050.9459615
WHSC1L1-RSF1chr838194823chr11774022831428HLA-B41:03QEKLLCEKL0.54550.71051120
WHSC1L1-RSF1chr838194823chr11774022831428HLA-A30:01RFILKLTQEK0.96130.8847414

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Potential FusionNeoAntigen Information of WHSC1L1-RSF1 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.
WHSC1L1-RSF1_38194823_77402283.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)
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-0828IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1118IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1125IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1142IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1167IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1184IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1306IPSLRFILKLTQEKL015
WHSC1L1-RSF1chr838194823chr11774022831428DRB1-1318IPSLRFILKLTQEKL015

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Fusion breakpoint peptide structures of WHSC1L1-RSF1

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
3794ILKLTQEKLLCEKLWHSC1L1RSF1chr838194823chr11774022831428

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of WHSC1L1-RSF1

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-B14:023BVN3794ILKLTQEKLLCEKL-7.9962-8.1096
HLA-B14:023BVN3794ILKLTQEKLLCEKL-5.70842-6.74372
HLA-B52:013W393794ILKLTQEKLLCEKL-6.83737-6.95077
HLA-B52:013W393794ILKLTQEKLLCEKL-4.4836-5.5189
HLA-A11:014UQ23794ILKLTQEKLLCEKL-10.0067-10.1201
HLA-A11:014UQ23794ILKLTQEKLLCEKL-9.03915-10.0745
HLA-A24:025HGA3794ILKLTQEKLLCEKL-6.56204-6.67544
HLA-A24:025HGA3794ILKLTQEKLLCEKL-5.42271-6.45801
HLA-B44:053DX83794ILKLTQEKLLCEKL-7.85648-8.89178
HLA-B44:053DX83794ILKLTQEKLLCEKL-5.3978-5.5112
HLA-A02:016TDR3794ILKLTQEKLLCEKL-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of WHSC1L1-RSF1

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
WHSC1L1-RSF1chr838194823chr11774022831120QEKLLCEKLCAAGAGAAACTGCTCTGTGAAAAATTA
WHSC1L1-RSF1chr838194823chr1177402283414RFILKLTQEKAGGTTCATACTAAAATTAACACAAGAGAAA
WHSC1L1-RSF1chr838194823chr1177402283615ILKLTQEKLATACTAAAATTAACACAAGAGAAACTG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
WHSC1L1-RSF1chr838194823chr1177402283015IPSLRFILKLTQEKLATCCCCAGCTTGAGGTTCATACTAAAATTAACACAAGAGAAACTG

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Information of the samples that have these potential fusion neoantigens of WHSC1L1-RSF1

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
BRCAWHSC1L1-RSF1chr838194823ENST00000316985chr1177402283ENST00000308488TCGA-B6-A0RL-01A

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Potential target of CAR-T therapy development for WHSC1L1-RSF1

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 WHSC1L1-RSF1

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 WHSC1L1-RSF1

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