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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CREBBP-KAT6A (FusionGDB2 ID:19367)

Fusion Gene Summary for CREBBP-KAT6A

check button Fusion gene summary
Fusion gene informationFusion gene name: CREBBP-KAT6A
Fusion gene ID: 19367
HgeneTgene
Gene symbol

CREBBP

KAT6A

Gene ID

1387

7994

Gene nameCREB binding proteinlysine acetyltransferase 6A
SynonymsCBP|KAT3A|MKHK1|RSTS|RSTS1ARTHS|MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220
Cytomap

16p13.3

8p11.21

Type of geneprotein-codingprotein-coding
DescriptionCREB-binding proteinhistone lysine acetyltransferase CREBBPprotein-lysine acetyltransferase CREBBPhistone acetyltransferase KAT6AK(lysine) acetyltransferase 6AMOZ, YBF2/SAS3, SAS2 and TIP60 protein 3MYST histone acetyltransferase (monocytic leukemia) 3histone acetyltransferase MYST3monocytic leukemia zinc finger proteinrunt-related transcription
Modification date2020032920200313
UniProtAcc

Q92793

Q92794

Ensembl transtripts involved in fusion geneENST00000262367, ENST00000382070, 
ENST00000485568, ENST00000265713, 
ENST00000396930, ENST00000406337, 
Fusion gene scores* DoF score43 X 38 X 17=277786 X 11 X 6=396
# samples 6112
** MAII scorelog2(61/27778*10)=-5.50898967694577
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/396*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREBBP [Title/Abstract] AND KAT6A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREBBP(3929833)-KAT6A(41792385), # samples:1
CREBBP(3929833)-KAT6A(41792387), # samples:1
CREBBP(3927349)-KAT6A(41793271), # samples:1
CREBBP(3907404)-KAT6A(41793857), # samples:1
KAT6A(41794774)-CREBBP(3901010), # samples:1
KAT6A(41794961)-CREBBP(3843578), # samples:1
KAT6A(41794774)-CREBBP(3901011), # samples:1
KAT6A(41794774)-CREBBP(3860781), # samples:1
KAT6A(41793259)-CREBBP(3927186), # samples:1
KAT6A(41792414)-CREBBP(3926814), # samples:1
KAT6A(41793759)-CREBBP(3926060), # samples:1
KAT6A(41793848)-CREBBP(3907401), # samples:1
Anticipated loss of major functional domain due to fusion event.KAT6A-CREBBP seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
KAT6A-CREBBP seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CREBBP-KAT6A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CREBBP-KAT6A 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
HgeneCREBBP

GO:0000122

negative regulation of transcription by RNA polymerase II

21539536

HgeneCREBBP

GO:0006355

regulation of transcription, DNA-templated

12169688

HgeneCREBBP

GO:0006473

protein acetylation

15273251|24207024|24939902|28790157|30540930

HgeneCREBBP

GO:0016573

histone acetylation

11742995

HgeneCREBBP

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

HgeneCREBBP

GO:0034644

cellular response to UV

24939902

HgeneCREBBP

GO:0045893

positive regulation of transcription, DNA-templated

11742995

HgeneCREBBP

GO:1990258

histone glutamine methylation

30540930

TgeneKAT6A

GO:0006473

protein acetylation

23431171

TgeneKAT6A

GO:0016573

histone acetylation

11742995|17925393

TgeneKAT6A

GO:0030099

myeloid cell differentiation

11742995

TgeneKAT6A

GO:0043966

histone H3 acetylation

16387653

TgeneKAT6A

GO:0045892

negative regulation of transcription, DNA-templated

11742995

TgeneKAT6A

GO:0045893

positive regulation of transcription, DNA-templated

11742995|11965546|18794358


check buttonFusion gene breakpoints across CREBBP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KAT6A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LAMLTCGA-AB-2910-03ACREBBPchr16

3929833

-KAT6Achr8

41792385

-
ChimerKB4..CREBBPchr16

3901010

-KAT6Achr8

3901010

-
ChiTaRS5.0N/AAJ251845CREBBPchr16

3929833

-KAT6Achr8

41792387

-
ChiTaRS5.0N/AAJ315151CREBBPchr16

3927349

-KAT6Achr8

41793271

-
ChiTaRS5.0N/AAY442918CREBBPchr16

3907404

+KAT6Achr8

41793857

+


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Fusion Gene ORF analysis for CREBBP-KAT6A

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-intronENST00000262367ENST00000485568CREBBPchr16

3929833

-KAT6Achr8

41792385

-
5CDS-intronENST00000262367ENST00000485568CREBBPchr16

3929833

-KAT6Achr8

41792387

-
5CDS-intronENST00000382070ENST00000485568CREBBPchr16

3929833

-KAT6Achr8

41792385

-
5CDS-intronENST00000382070ENST00000485568CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000262367ENST00000265713CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000262367ENST00000265713CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000262367ENST00000396930CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000262367ENST00000396930CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000262367ENST00000406337CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000262367ENST00000406337CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000382070ENST00000265713CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000382070ENST00000265713CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000382070ENST00000396930CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000382070ENST00000396930CREBBPchr16

3929833

-KAT6Achr8

41792387

-
Frame-shiftENST00000382070ENST00000406337CREBBPchr16

3929833

-KAT6Achr8

41792385

-
Frame-shiftENST00000382070ENST00000406337CREBBPchr16

3929833

-KAT6Achr8

41792387

-
intron-intronENST00000262367ENST00000265713CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000262367ENST00000265713CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000262367ENST00000265713CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000262367ENST00000396930CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000262367ENST00000396930CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000262367ENST00000396930CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000262367ENST00000406337CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000262367ENST00000406337CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000262367ENST00000406337CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000262367ENST00000485568CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000262367ENST00000485568CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000262367ENST00000485568CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000382070ENST00000265713CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000382070ENST00000265713CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000382070ENST00000265713CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000382070ENST00000396930CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000382070ENST00000396930CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000382070ENST00000396930CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000382070ENST00000406337CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000382070ENST00000406337CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000382070ENST00000406337CREBBPchr16

3907404

+KAT6Achr8

41793857

+
intron-intronENST00000382070ENST00000485568CREBBPchr16

3901010

-KAT6Achr8

3901010

-
intron-intronENST00000382070ENST00000485568CREBBPchr16

3927349

-KAT6Achr8

41793271

-
intron-intronENST00000382070ENST00000485568CREBBPchr16

3907404

+KAT6Achr8

41793857

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

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

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Fusion Genomic Features for CREBBP-KAT6A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CREBBP-KAT6A


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/:3929833/:41792385)
- 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
CREBBP

Q92793

KAT6A

Q92794

FUNCTION: Acetylates histones, giving a specific tag for transcriptional activation (PubMed:24616510). Also acetylates non-histone proteins, like DDX21, FBL, IRF2, MAFG, NCOA3, POLR1E/PAF53 and FOXO1 (PubMed:10490106, PubMed:11154691, PubMed:12738767, PubMed:12929931, PubMed:9707565, PubMed:24207024, PubMed:28790157, PubMed:30540930). Binds specifically to phosphorylated CREB and enhances its transcriptional activity toward cAMP-responsive genes. Acts as a coactivator of ALX1. 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). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates POLR1E/PAF53, leading to decreased association of RNA polymerase I with the rDNA promoter region and coding region (PubMed:24207024). Acetylates DDX21, thereby inhibiting DDX21 helicase activity (PubMed:28790157). Acetylates FBL, preventing methylation of 'Gln-105' of histone H2A (H2AQ104me) (PubMed:30540930). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000269|PubMed:10490106, ECO:0000269|PubMed:11154691, ECO:0000269|PubMed:12738767, ECO:0000269|PubMed:12929931, ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:24207024, ECO:0000269|PubMed:24616510, ECO:0000269|PubMed:24939902, ECO:0000269|PubMed:25514493, ECO:0000269|PubMed:28790157, ECO:0000269|PubMed:30540930, ECO:0000269|PubMed:9707565}.FUNCTION: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}.

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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for CREBBP-KAT6A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for CREBBP-KAT6A


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for CREBBP-KAT6A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CREBBP-KAT6A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource