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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 11682

FusionGeneSummary for EP300_DAZAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: EP300_DAZAP2
Fusion gene ID: 11682
HgeneTgene
Gene symbol

EP300

DAZAP2

Gene ID

2033

9802

Gene nameE1A binding protein p300DAZ associated protein 2
SynonymsKAT3B|RSTS2|p300PRTB
Cytomap

22q13.2

12q13.13

Type of geneprotein-codingprotein-coding
Descriptionhistone acetyltransferase p300E1A-associated protein p300E1A-binding protein, 300kDhistone butyryltransferase p300histone crotonyltransferase p300p300 HATprotein propionyltransferase p300DAZ-associated protein 2deleted in azoospermia associated protein 2proline-rich transcript in brainproline-rich transcript, brain-expressed protein
Modification date2018052720180522
UniProtAcc

Q09472

Q15038

Ensembl transtripts involved in fusion geneENST00000263253, ENST00000604900, 
ENST00000412716, ENST00000449723, 
ENST00000549555, ENST00000439799, 
ENST00000425012, ENST00000549732, 
ENST00000551534, ENST00000551313, 
Fusion gene scores* DoF score16 X 11 X 11=19366 X 7 X 3=126
# samples 178
** MAII scorelog2(17/1936*10)=-3.50947230113689
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EP300 [Title/Abstract] AND DAZAP2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneEP300

GO:0000122

negative regulation of transcription by RNA polymerase II

10733570

HgeneEP300

GO:0001666

response to hypoxia

9887100|15261140

HgeneEP300

GO:0006355

regulation of transcription, DNA-templated

15261140

HgeneEP300

GO:0006473

protein acetylation

21030595|24939902

HgeneEP300

GO:0006475

internal protein amino acid acetylation

18722353

HgeneEP300

GO:0010742

macrophage derived foam cell differentiation

26504087

HgeneEP300

GO:0016573

histone acetylation

25818647

HgeneEP300

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

HgeneEP300

GO:0018393

internal peptidyl-lysine acetylation

17403783

HgeneEP300

GO:0018394

peptidyl-lysine acetylation

23962722

HgeneEP300

GO:0032460

negative regulation of protein oligomerization

23962722

HgeneEP300

GO:0034644

cellular response to UV

24939902

HgeneEP300

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

17403783

HgeneEP300

GO:0043627

response to estrogen

11581164

HgeneEP300

GO:0043923

positive regulation by host of viral transcription

16687403

HgeneEP300

GO:0043969

histone H2B acetylation

23415232

HgeneEP300

GO:0045815

positive regulation of gene expression, epigenetic

25818647

HgeneEP300

GO:0045944

positive regulation of transcription by RNA polymerase II

12586840|18722353

HgeneEP300

GO:0051091

positive regulation of DNA binding transcription factor activity

10518217|25818647

HgeneEP300

GO:0060765

regulation of androgen receptor signaling pathway

18487222

HgeneEP300

GO:0061921

peptidyl-lysine propionylation

17267393

HgeneEP300

GO:0090043

regulation of tubulin deacetylation

18722353

HgeneEP300

GO:0140066

peptidyl-lysine crotonylation

25818647

HgeneEP300

GO:0140067

peptidyl-lysine butyrylation

17267393


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW366672EP300chr22

41573997

+DAZAP2chr12

51634135

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000263253ENST00000604900EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000412716EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000449723EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000549555EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000439799EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000425012EP300chr22

41573997

+DAZAP2chr12

51634135

+
Frame-shiftENST00000263253ENST00000549732EP300chr22

41573997

+DAZAP2chr12

51634135

+
5CDS-3UTRENST00000263253ENST00000551534EP300chr22

41573997

+DAZAP2chr12

51634135

+
5CDS-5UTRENST00000263253ENST00000551313EP300chr22

41573997

+DAZAP2chr12

51634135

+

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FusionProtFeatures for EP300_DAZAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EP300

Q09472

DAZAP2

Q15038

Functions as histone acetyltransferase and regulatestranscription via chromatin remodeling (PubMed:23415232,PubMed:23934153, PubMed:8945521). Acetylates all four corehistones in nucleosomes. Histone acetylation gives an epigenetictag for transcriptional activation (PubMed:23415232,PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation bybinding specifically to phosphorylated CREB protein. Mediatesacetylation of histone H3 at 'Lys-122' (H3K122ac), a modificationthat localizes at the surface of the histone octamer andstimulates transcription, possibly by promoting nucleosomeinstability. Mediates acetylation of histone H3 at 'Lys-27'(H3K27ac) (PubMed:23911289). Also functions as acetyltransferasefor nonhistone targets. Acetylates 'Lys-131' of ALX1 and acts asits coactivator (PubMed:12929931). Acetylates SIRT2 and isproposed to indirectly increase the transcriptional activity ofTP53 through acetylation and subsequent attenuation of SIRT2deacetylase function (PubMed:18722353). Acetylates HDAC1 leadingto its inactivation and modulation of transcription(PubMed:16762839). Acts as a TFAP2A-mediated transcriptionalcoactivator in presence of CITED2 (PubMed:12586840). Plays a roleas a coactivator of NEUROD1-dependent transcription of thesecretin and p21 genes and controls terminal differentiation ofcells in the intestinal epithelium. Promotes cardiac myocyteenlargement. Can also mediate transcriptional repression.Acetylates FOXO1 and enhances its transcriptional activity(PubMed:15890677). Acetylates BCL6 wich disrupts its ability torecruit histone deacetylases and hinders its transcriptionalrepressor activity (PubMed:12402037). Participates in CLOCK orNPAS2-regulated rhythmic gene transcription; exhibits a circadianassociation with CLOCK or NPAS2, correlating with increase inPER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter(PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essentialfor its transcriptional coactivator activity (PubMed:16617102).Acetylates XBP1 isoform 2; acetylation increases protein stabilityof XBP1 isoform 2 and enhances its transcriptional activity(PubMed:20955178). Acetylates PCNA; acetylation promotes removalof chromatin-bound PCNA and its degradation during nucleotideexcision repair (NER) (PubMed:24939902). Acetylates MEF2D(PubMed:21030595). Acetylates and stabilizes ZBTB7B protein byantagonizing ubiquitin conjugation and degragation, this mechanismmay be involved in CD4/CD8 lineage differentiation(PubMed:20810990). In addition to protein acetyltransferase, canuse different acyl-CoA substrates, such as (2E)-butenoyl-CoA(crotonyl-CoA), butanoyl-CoA (butyryl-CoA) or propanoyl-CoA(propionyl-CoA), and is able to mediate protein crotonylation,butyrylation or propionylation, respectively (PubMed:25818647,PubMed:17267393). Acts as a histone crotonyltransferase;crotonylation marks active promoters and enhancers and confersresistance to transcriptional repressors (PubMed:25818647).Histone crotonyltransferase activity is dependent on theconcentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate andsuch activity is weak when (E)-but-2-enoyl-CoA (crotonyl-CoA)concentration is low (PubMed:25818647). Also acts as a histonebutyryltransferase; butyrylation marks active promoters(PubMed:17267393). {ECO:0000250|UniProtKB:B2RWS6,ECO:0000269|PubMed:10733570, ECO:0000269|PubMed:11430825,ECO:0000269|PubMed:11701890, ECO:0000269|PubMed:12402037,ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:12929931,ECO:0000269|PubMed:14645221, ECO:0000269|PubMed:15186775,ECO:0000269|PubMed:15890677, ECO:0000269|PubMed:16617102,ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17267393,ECO:0000269|PubMed:18722353, ECO:0000269|PubMed:18995842,ECO:0000269|PubMed:20810990, ECO:0000269|PubMed:21030595,ECO:0000269|PubMed:23415232, ECO:0000269|PubMed:23911289,ECO:0000269|PubMed:23934153, ECO:0000269|PubMed:24939902,ECO:0000269|PubMed:25818647, ECO:0000269|PubMed:8945521,ECO:0000305|PubMed:20955178}. (Microbial infection) In case of HIV-1 infection, it isrecruited by the viral protein Tat. Regulates Tat'stransactivating activity and may help inducing chromatinremodeling of proviral genes. Binds to and may be involved in thetransforming capacity of the adenovirus E1A protein.{ECO:0000269|PubMed:10545121, ECO:0000269|PubMed:11080476}.

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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FusionGeneSequence for EP300_DAZAP2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for EP300_DAZAP2


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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RelatedDrugs for EP300_DAZAP2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for EP300_DAZAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEP300C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneEP300C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneEP300C0005695Bladder Neoplasm1CTD_human
HgeneEP300C0007137Squamous cell carcinoma1CTD_human
HgeneEP300C0007138Carcinoma, Transitional Cell1CTD_human
HgeneEP300C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneEP300C0014170Endometrial Neoplasms1CTD_human
HgeneEP300C0025202melanoma1CTD_human
HgeneEP300C0028754Obesity1CTD_human
HgeneEP300C0038325Stevens-Johnson Syndrome1CTD_human
HgeneEP300C0079772T-Cell Lymphoma1CTD_human
HgeneEP300C0149925Small cell carcinoma of lung1CTD_human
HgeneEP300C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneEP300C0376634Craniofacial Abnormalities1CTD_human
HgeneEP300C1458155Mammary Neoplasms1CTD_human