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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KAT2B-KANSL1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KAT2B-KANSL1
FusionPDB ID: 41186
FusionGDB2.0 ID: 41186
HgeneTgene
Gene symbol

KAT2B

KANSL1

Gene ID

8850

284058

Gene namelysine acetyltransferase 2BKAT8 regulatory NSL complex subunit 1
SynonymsCAF|P/CAF|PCAFCENP-36|KDVS|KIAA1267|MSL1v1|NSL1|hMSL1v1
Cytomap

3p24.3

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionhistone acetyltransferase KAT2BCREBBP-associated factorK(lysine) acetyltransferase 2Bhistone acetylase PCAFhistone acetyltransferase PCAFp300/CBP-associated factorspermidine acetyltransferase KAT2BKAT8 regulatory NSL complex subunit 1MLL1/MLL complex subunit KANSL1MSL1 homolog 1NSL complex protein NSL1centromere protein 36male-specific lethal 1 homolognon-specific lethal 1 homolog
Modification date2020031320200327
UniProtAcc

Q92831

A0AUZ9

Ensembl transtripts involved in fusion geneENST idsENST00000426228, ENST00000263754, 
ENST00000262419, ENST00000432791, 
ENST00000572904, ENST00000574590, 
ENST00000575318, ENST00000393476, 
ENST00000576248, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 2=3217 X 18 X 11=3366
# samples 428
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(28/3366*10)=-3.58753644438498
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KAT2B [Title/Abstract] AND KANSL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KAT2B(20136900)-KANSL1(44145033), # samples:1
Anticipated loss of major functional domain due to fusion event.KAT2B-KANSL1 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.
KAT2B-KANSL1 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.
KAT2B-KANSL1 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.
KAT2B-KANSL1 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
HgeneKAT2B

GO:0006338

chromatin remodeling

17707232

HgeneKAT2B

GO:0006473

protein acetylation

15273251|26867678

HgeneKAT2B

GO:0008285

negative regulation of cell proliferation

8684459

HgeneKAT2B

GO:0010835

regulation of protein ADP-ribosylation

19470756

HgeneKAT2B

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

HgeneKAT2B

GO:0018393

internal peptidyl-lysine acetylation

23932781|27796307|29174768

HgeneKAT2B

GO:0018394

peptidyl-lysine acetylation

19303849|19470756

HgeneKAT2B

GO:0032869

cellular response to insulin stimulus

19303849

HgeneKAT2B

GO:0043966

histone H3 acetylation

18838386

HgeneKAT2B

GO:0045944

positive regulation of transcription by RNA polymerase II

19470756

HgeneKAT2B

GO:0046600

negative regulation of centriole replication

27796307

HgeneKAT2B

GO:2000233

negative regulation of rRNA processing

26867678

TgeneKANSL1

GO:0043981

histone H4-K5 acetylation

20018852

TgeneKANSL1

GO:0043982

histone H4-K8 acetylation

20018852

TgeneKANSL1

GO:0043984

histone H4-K16 acetylation

20018852


check buttonFusion gene breakpoints across KAT2B (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 KANSL1 (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 Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerERR315398KAT2Bchr3

20136900

+KANSL1chr17

44145033

-


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Fusion ORF Analysis


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)
ENST00000263754KAT2Bchr320136900+ENST00000574590KANSL1chr1744145033-437610314552815786
ENST00000263754KAT2Bchr320136900+ENST00000575318KANSL1chr1744145033-417510314552623722
ENST00000263754KAT2Bchr320136900+ENST00000572904KANSL1chr1744145033-433910314552815786
ENST00000263754KAT2Bchr320136900+ENST00000262419KANSL1chr1744145033-433610314552815786
ENST00000263754KAT2Bchr320136900+ENST00000432791KANSL1chr1744145033-432410314552815786

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
ENST00000263754ENST00000574590KAT2Bchr320136900+KANSL1chr1744145033-0.0071104660.9928895
ENST00000263754ENST00000575318KAT2Bchr320136900+KANSL1chr1744145033-0.0108965750.98910344
ENST00000263754ENST00000572904KAT2Bchr320136900+KANSL1chr1744145033-0.0078920.9921079
ENST00000263754ENST00000262419KAT2Bchr320136900+KANSL1chr1744145033-0.0078599410.9921401
ENST00000263754ENST00000432791KAT2Bchr320136900+KANSL1chr1744145033-0.0084442780.99155575

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>41186_41186_1_KAT2B-KANSL1_KAT2B_chr3_20136900_ENST00000263754_KANSL1_chr17_44145033_ENST00000262419_length(amino acids)=786AA_BP=192
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSGACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKK
LEKLGVYSACKAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHLENVSEEEMNRLLGIVLDVEYLFTCVHKEED
ADTKQVYFYLFKIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCV
AARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSL
HFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAE
RLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSSQVTASTSQQPVRRRRGESS
FDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYR
SSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRT

--------------------------------------------------------------

>41186_41186_2_KAT2B-KANSL1_KAT2B_chr3_20136900_ENST00000263754_KANSL1_chr17_44145033_ENST00000432791_length(amino acids)=786AA_BP=192
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSGACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKK
LEKLGVYSACKAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHLENVSEEEMNRLLGIVLDVEYLFTCVHKEED
ADTKQVYFYLFKIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCV
AARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSL
HFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAE
RLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSSQVTASTSQQPVRRRRGESS
FDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYR
SSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRT

--------------------------------------------------------------

>41186_41186_3_KAT2B-KANSL1_KAT2B_chr3_20136900_ENST00000263754_KANSL1_chr17_44145033_ENST00000572904_length(amino acids)=786AA_BP=192
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSGACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKK
LEKLGVYSACKAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHLENVSEEEMNRLLGIVLDVEYLFTCVHKEED
ADTKQVYFYLFKIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCV
AARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSL
HFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAE
RLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSSQVTASTSQQPVRRRRGESS
FDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYR
SSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRT

--------------------------------------------------------------

>41186_41186_4_KAT2B-KANSL1_KAT2B_chr3_20136900_ENST00000263754_KANSL1_chr17_44145033_ENST00000574590_length(amino acids)=786AA_BP=192
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSGACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKK
LEKLGVYSACKAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHLENVSEEEMNRLLGIVLDVEYLFTCVHKEED
ADTKQVYFYLFKIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCV
AARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSL
HFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAKLSHHQTRPDRTHRQHLDDVGAVPMVERVTAPKAE
RLLNPPPPVHDPNHSKMRLRDHSSERSEVLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDSPAPASSSSQVTASTSQQPVRRRRGESS
FDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAKCEEMERARWLWTTSVPPQRRGSRSYR
SSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHLASEDTRCSTPELGLDEQSVQPWERRT

--------------------------------------------------------------

>41186_41186_5_KAT2B-KANSL1_KAT2B_chr3_20136900_ENST00000263754_KANSL1_chr17_44145033_ENST00000575318_length(amino acids)=722AA_BP=192
MSEAGGAGPGGCGAGAGAGAGPGALPPQPAALPPAPPQGSPCAAAAGGSGACGPATAVAAAGTAEGPGGGGSARIAVKKAQLRSAPRAKK
LEKLGVYSACKAEESCKCNGWKNPNPSPTPPRADLQQIIVSLTESCRSCSHALAAHVSHLENVSEEEMNRLLGIVLDVEYLFTCVHKEED
ADTKQVYFYLFKIESVSQPLENHGARIIGHISESLSTKSCGALRPVNGVINTLQPVLADHIPGDSSDAEEQLHKKQRLNLVSSSSDGTCV
AARTRPVLSCKKRRLVRPNSIVPLSKKVHRNSTIRPGCDVNPSCALCGSGSINTMPPEIHYEAPLLERLSQLDSCVHPVLAFPDDVPTSL
HFQSMLKSQWQNKPFDKIKPPKKLSLKHRAPMPGSLPDSARKDRHKLVSSFLTTAMLKHHTDMSSSSYLAATHHPPHSPLVRQLSTSSDS
PAPASSSSQVTASTSQPVRRRRGESSFDINNIVIPMSVAATTRVEKLQYKEILTPSWREVDLQSLKGSPDEENEEIEDLSDAAFAALHAK
CEEMERARWLWTTSVPPQRRGSRSYRSSDGRTTPQLGSANPSTPQPASPDVSSSHSLSEYSHGQSPRSPISPELHSAPLTPVARDTPRHL
ASEDTRCSTPELGLDEQSVQPWERRTFPLAHSPQAECEDQLDAQERAARCTRRTSGSKTGRETEAAPTSPPIVPLKSRHLVAAATAQRPT

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr3:20136900/chr17:44145033)
- 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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KAT2B

Q92831

KANSL1

A0AUZ9

FUNCTION: Functions as a histone acetyltransferase (HAT) to promote transcriptional activation (PubMed:8945521). Has significant histone acetyltransferase activity with core histones (H3 and H4), and also with nucleosome core particles (PubMed:8945521). Also acetylates non-histone proteins, such as ACLY, PLK4, RRP9/U3-55K and TBX5 (PubMed:9707565, PubMed:10675335, PubMed:27796307, PubMed:23932781, PubMed:26867678, PubMed:29174768). Inhibits cell-cycle progression and counteracts the mitogenic activity of the adenoviral oncoprotein E1A (PubMed:8684459). Acts as a circadian transcriptional coactivator which enhances the activity of the circadian transcriptional activators: NPAS2-ARNTL/BMAL1 and CLOCK-ARNTL/BMAL1 heterodimers (PubMed:14645221). Involved in heart and limb development by mediating acetylation of TBX5, acetylation regulating nucleocytoplasmic shuttling of TBX5 (PubMed:29174768). Acts as a negative regulator of centrosome amplification by mediating acetylation of PLK4 (PubMed:27796307). Acetylates RRP9/U3-55K, a core subunit of the U3 snoRNP complex, impairing pre-rRNA processing (PubMed:26867678). Also acetylates spermidine (PubMed:27389534). {ECO:0000269|PubMed:10675335, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:23932781, ECO:0000269|PubMed:26867678, ECO:0000269|PubMed:27389534, ECO:0000269|PubMed:27796307, ECO:0000269|PubMed:29174768, ECO:0000269|PubMed:8684459, ECO:0000269|PubMed:8945521, ECO:0000269|PubMed:9707565}.; FUNCTION: (Microbial infection) In case of HIV-1 infection, it is recruited by the viral protein Tat. Regulates Tat's transactivating activity and may help inducing chromatin remodeling of proviral genes. {ECO:0000269|PubMed:12486002}.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneKANSL1chr3:20136900chr17:44145033ENST00000262419315850_882511.01106.0RegionNote=Required for activation of KAT8 histone acetyltransferase activity
TgeneKANSL1chr3:20136900chr17:44145033ENST00000432791214850_882511.01106.0RegionNote=Required for activation of KAT8 histone acetyltransferase activity
TgeneKANSL1chr3:20136900chr17:44145033ENST00000572904315850_882511.01106.0RegionNote=Required for activation of KAT8 histone acetyltransferase activity
TgeneKANSL1chr3:20136900chr17:44145033ENST00000574590315850_882511.01106.0RegionNote=Required for activation of KAT8 histone acetyltransferase activity

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKAT2Bchr3:20136900chr17:44145033ENST00000263754+318503_651192.0833.0DomainN-acetyltransferase
HgeneKAT2Bchr3:20136900chr17:44145033ENST00000263754+318740_810192.0833.0DomainBromo
HgeneKAT2Bchr3:20136900chr17:44145033ENST00000263754+318574_576192.0833.0RegionAcetyl-CoA binding
HgeneKAT2Bchr3:20136900chr17:44145033ENST00000263754+318581_587192.0833.0RegionAcetyl-CoA binding
HgeneKAT2Bchr3:20136900chr17:44145033ENST00000263754+318612_615192.0833.0RegionAcetyl-CoA binding
TgeneKANSL1chr3:20136900chr17:44145033ENST00000262419315283_314511.01106.0Coiled coilOntology_term=ECO:0000255
TgeneKANSL1chr3:20136900chr17:44145033ENST00000432791214283_314511.01106.0Coiled coilOntology_term=ECO:0000255
TgeneKANSL1chr3:20136900chr17:44145033ENST00000572904315283_314511.01106.0Coiled coilOntology_term=ECO:0000255
TgeneKANSL1chr3:20136900chr17:44145033ENST00000574590315283_314511.01106.0Coiled coilOntology_term=ECO:0000255


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KAT2B
KANSL1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to KAT2B-KANSL1


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 KAT2B-KANSL1


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