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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:SAMD8-KAT6B

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SAMD8-KAT6B
FusionPDB ID: 79103
FusionGDB2.0 ID: 79103
HgeneTgene
Gene symbol

SAMD8

KAT6B

Gene ID

142891

23522

Gene namesterile alpha motif domain containing 8lysine acetyltransferase 6B
SynonymsHEL-177|SMSrGTPTS|MORF|MOZ2|MYST4|ZC2HC6B|qkf|querkopf
Cytomap

10q22.2

10q22.2

Type of geneprotein-codingprotein-coding
Descriptionsphingomyelin synthase-related protein 1CPE synthaseHEL-S-181mPSAM domain-containing protein 8ceramide phosphoethanolamine synthaseepididymis luminal protein 177epididymis secretory sperm binding protein Li 181mPsphingomyelin synthase relatedsterihistone acetyltransferase KAT6BK(lysine) acetyltransferase 6BMOZ, YBF2/SAS3, SAS2 and TIP60 protein 4MOZ-related factorMYST histone acetyltransferase (monocytic leukemia) 4MYST-4histone acetyltransferase MORFhistone acetyltransferase MOZ2histone a
Modification date2020031320200313
UniProtAcc.

Q8WYB5

Main function of 5'-partner protein: FUNCTION: Histone acetyltransferase which may be involved in both positive and negative regulation of transcription. Required for RUNX2-dependent transcriptional activation. May be involved in cerebral cortex development. Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. {ECO:0000269|PubMed:10497217, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:16387653}.
Ensembl transtripts involved in fusion geneENST idsENST00000372687, ENST00000372690, 
ENST00000542569, 
ENST00000490365, 
ENST00000287239, ENST00000372711, 
ENST00000372724, ENST00000372725, 
ENST00000372714, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 5=1807 X 11 X 4=308
# samples 810
** MAII scorelog2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/308*10)=-1.62293035092018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SAMD8 [Title/Abstract] AND KAT6B [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SAMD8 [Title/Abstract] AND KAT6B [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SAMD8(76928416)-KAT6B(76788247), # samples:1
Anticipated loss of major functional domain due to fusion event.SAMD8-KAT6B 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.
SAMD8-KAT6B 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.
SAMD8-KAT6B 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.
SAMD8-KAT6B 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.
SAMD8-KAT6B seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SAMD8-KAT6B seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
SAMD8-KAT6B seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
SAMD8-KAT6B seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
SAMD8-KAT6B seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneSAMD8

GO:0046513

ceramide biosynthetic process

19506037

HgeneSAMD8

GO:2000303

regulation of ceramide biosynthetic process

19506037

TgeneKAT6B

GO:0016573

histone acetylation

11965546

TgeneKAT6B

GO:0043966

histone H3 acetylation

16387653

TgeneKAT6B

GO:0045892

negative regulation of transcription, DNA-templated

10497217

TgeneKAT6B

GO:0045893

positive regulation of transcription, DNA-templated

10497217|11965546



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/chr10:76928416/chr10:76788247)
- 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 SAMD8 (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 KAT6B (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)
ENST00000542569SAMD8chr1076928416-ENST00000372714KAT6Bchr1076788247+35978958313452873
ENST00000372687SAMD8chr1076928416-ENST00000372714KAT6Bchr1076788247+35798778133434873
ENST00000372690SAMD8chr1076928416-ENST00000372714KAT6Bchr1076788247+376110599953616873

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
ENST00000542569ENST00000372714SAMD8chr1076928416-KAT6Bchr1076788247+0.0060668160.99393314
ENST00000372687ENST00000372714SAMD8chr1076928416-KAT6Bchr1076788247+0.0064156620.99358433
ENST00000372690ENST00000372714SAMD8chr1076928416-KAT6Bchr1076788247+0.0061751280.99382484

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 SAMD8-KAT6B

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SAMD8chr1076928416KAT6Bchr1076788247105921PLRARTTPAVYWKDNMNDDSSNLKEG
SAMD8chr1076928416KAT6Bchr107678824787721PLRARTTPAVYWKDNMNDDSSNLKEG
SAMD8chr1076928416KAT6Bchr107678824789521PLRARTTPAVYWKDNMNDDSSNLKEG

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Potential FusionNeoAntigen Information of SAMD8-KAT6B 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.

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)

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Potential FusionNeoAntigen Information of SAMD8-KAT6B 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 SAMD8-KAT6B

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.

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SAMD8-KAT6B

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

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Vaccine Design for the FusionNeoAntigens of SAMD8-KAT6B

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

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 SAMD8-KAT6B

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

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Potential target of CAR-T therapy development for SAMD8-KAT6B

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
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372687-45153_173264327.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372687-45201_221264327.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372687-45232_252264327.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372690-46153_173327479.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372690-46201_221327479.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372690-46232_252327479.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000372690-46277_297327479.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000542569-46153_173264416.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000542569-46201_221264416.0TransmembraneHelical
HgeneSAMD8chr10:76928416chr10:76788247ENST00000542569-46232_252264416.0TransmembraneHelical

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 SAMD8-KAT6B

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 SAMD8-KAT6B

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