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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:KANSL1-PPP1R1B

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KANSL1-PPP1R1B
FusionPDB ID: 41150
FusionGDB2.0 ID: 41150
HgeneTgene
Gene symbol

KANSL1

PPP1R1B

Gene ID

284058

84152

Gene nameKAT8 regulatory NSL complex subunit 1protein phosphatase 1 regulatory inhibitor subunit 1B
SynonymsCENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1DARPP-32|DARPP32
Cytomap

17q21.31

17q12

Type of geneprotein-codingprotein-coding
DescriptionKAT8 regulatory NSL complex subunit 1MLL1/MLL complex subunit KANSL1MSL1 homolog 1NSL complex protein NSL1centromere protein 36male-specific lethal 1 homolognon-specific lethal 1 homologprotein phosphatase 1 regulatory subunit 1Bdopamine and cAMP-regulated neuronal phosphoprotein 32
Modification date2020032720200313
UniProtAcc

A0AUZ9

Main function of 5'-partner protein:
.
Ensembl transtripts involved in fusion geneENST idsENST00000262419, ENST00000432791, 
ENST00000572904, ENST00000574590, 
ENST00000575318, ENST00000393476, 
ENST00000576248, 
ENST00000254079, 
ENST00000394265, ENST00000394267, 
ENST00000579000, ENST00000580825, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score34 X 33 X 14=1570817 X 10 X 9=1530
# samples 4726
** MAII scorelog2(47/15708*10)=-5.0626949361014
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/1530*10)=-2.55694812455156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: KANSL1 [Title/Abstract] AND PPP1R1B [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: KANSL1 [Title/Abstract] AND PPP1R1B [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KANSL1(44239843)-PPP1R1B(37783559), # samples:2
Anticipated loss of major functional domain due to fusion event.KANSL1-PPP1R1B 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.
KANSL1-PPP1R1B 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.
KANSL1-PPP1R1B 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.
KANSL1-PPP1R1B 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.
KANSL1-PPP1R1B seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KANSL1-PPP1R1B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KANSL1-PPP1R1B seems lost the major protein functional domain in Tgene 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
HgeneKANSL1

GO:0043981

histone H4-K5 acetylation

20018852

HgeneKANSL1

GO:0043982

histone H4-K8 acetylation

20018852

HgeneKANSL1

GO:0043984

histone H4-K16 acetylation

20018852

TgenePPP1R1B

GO:0032515

negative regulation of phosphoprotein phosphatase activity

10807923



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/chr17:44239843/chr17:37783559)
- 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 KANSL1 (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 PPP1R1B (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)
ENST00000575318KANSL1chr1744248221-ENST00000580825PPP1R1Bchr1737785423+19921323341479481
ENST00000575318KANSL1chr1744248221-ENST00000254079PPP1R1Bchr1737785423+26181323341479481
ENST00000575318KANSL1chr1744248221-ENST00000579000PPP1R1Bchr1737785423+25151323341431465
ENST00000262419KANSL1chr1744248221-ENST00000580825PPP1R1Bchr1737785423+242917604711916481
ENST00000262419KANSL1chr1744248221-ENST00000254079PPP1R1Bchr1737785423+305517604711916481
ENST00000262419KANSL1chr1744248221-ENST00000579000PPP1R1Bchr1737785423+295217604711868465
ENST00000432791KANSL1chr1744248221-ENST00000580825PPP1R1Bchr1737785423+20431374851530481
ENST00000432791KANSL1chr1744248221-ENST00000254079PPP1R1Bchr1737785423+26691374851530481
ENST00000432791KANSL1chr1744248221-ENST00000579000PPP1R1Bchr1737785423+25661374851482465

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
ENST00000575318ENST00000580825KANSL1chr1744248221-PPP1R1Bchr1737785423+0.035551330.9644487
ENST00000575318ENST00000254079KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0188318880.98116815
ENST00000575318ENST00000579000KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0140198470.9859802
ENST00000262419ENST00000580825KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0312885120.96871144
ENST00000262419ENST00000254079KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0191734450.9808265
ENST00000262419ENST00000579000KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0133728410.98662716
ENST00000432791ENST00000580825KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0359587330.9640413
ENST00000432791ENST00000254079KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0198051260.9801949
ENST00000432791ENST00000579000KANSL1chr1744248221-PPP1R1Bchr1737785423+0.0144628510.9855371

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 KANSL1-PPP1R1B

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
KANSL1chr1744248221PPP1R1Bchr17377854231323430LTRADPEQRHVPLSGAGDQRLPCCSG
KANSL1chr1744248221PPP1R1Bchr17377854231374430LTRADPEQRHVPLSGAGDQRLPCCSG
KANSL1chr1744248221PPP1R1Bchr17377854231760430LTRADPEQRHVPLSGAGDQRLPCCSG

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Potential FusionNeoAntigen Information of KANSL1-PPP1R1B 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.
KANSL1-PPP1R1B_44248221_37785423.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)
KANSL1-PPP1R1Bchr1744248221chr17377854231760HLA-B39:06QRHVPLSGA0.99290.8119716
KANSL1-PPP1R1Bchr1744248221chr17377854231760HLA-B27:14QRHVPLSGA0.99840.5506716
KANSL1-PPP1R1Bchr1744248221chr17377854231760HLA-B73:01QRHVPLSGA0.99570.7869716

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Potential FusionNeoAntigen Information of KANSL1-PPP1R1B 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 KANSL1-PPP1R1B

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
2067EQRHVPLSGAGDQRKANSL1PPP1R1Bchr1744248221chr17377854231760

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of KANSL1-PPP1R1B

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-B14:023BVN2067EQRHVPLSGAGDQR-7.9962-8.1096
HLA-B14:023BVN2067EQRHVPLSGAGDQR-5.70842-6.74372
HLA-B52:013W392067EQRHVPLSGAGDQR-6.83737-6.95077
HLA-B52:013W392067EQRHVPLSGAGDQR-4.4836-5.5189
HLA-A11:014UQ22067EQRHVPLSGAGDQR-10.0067-10.1201
HLA-A11:014UQ22067EQRHVPLSGAGDQR-9.03915-10.0745
HLA-A24:025HGA2067EQRHVPLSGAGDQR-6.56204-6.67544
HLA-A24:025HGA2067EQRHVPLSGAGDQR-5.42271-6.45801
HLA-B44:053DX82067EQRHVPLSGAGDQR-7.85648-8.89178
HLA-B44:053DX82067EQRHVPLSGAGDQR-5.3978-5.5112
HLA-A02:016TDR2067EQRHVPLSGAGDQR-3.37154-4.40684

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Vaccine Design for the FusionNeoAntigens of KANSL1-PPP1R1B

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
KANSL1-PPP1R1Bchr1744248221chr1737785423716QRHVPLSGAGCAGCGTCATGTACCCCTATCCGGCGC

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 KANSL1-PPP1R1B

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
BRCAKANSL1-PPP1R1Bchr1744248221ENST00000262419chr1737785423ENST00000254079TCGA-A8-A09G-01A

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Potential target of CAR-T therapy development for KANSL1-PPP1R1B

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 KANSL1-PPP1R1B

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 KANSL1-PPP1R1B

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