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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:EP300-MCHR1

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EP300-MCHR1
FusionPDB ID: 26754
FusionGDB2.0 ID: 26754
HgeneTgene
Gene symbol

EP300

MCHR1

Gene ID

2033

2847

Gene nameE1A binding protein p300melanin concentrating hormone receptor 1
SynonymsKAT3B|MKHK2|RSTS2|p300GPR24|MCH-1R|MCH1R|SLC-1|SLC1
Cytomap

22q13.2

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionhistone acetyltransferase p300E1A-associated protein p300E1A-binding protein, 300kDhistone butyryltransferase p300histone crotonyltransferase p300p300 HATprotein 2-hydroxyisobutyryltransferase p300protein propionyltransferase p300melanin-concentrating hormone receptor 1G protein-coupled receptor 24MCH receptor 1somatostatin receptor-like protein
Modification date2020032920200313
UniProtAcc

Q09472

Main function of 5'-partner protein: FUNCTION: Functions as histone acetyltransferase and regulates transcription via chromatin remodeling (PubMed:23415232, PubMed:23934153, PubMed:8945521). Acetylates all four core histones in nucleosomes. Histone acetylation gives an epigenetic tag for transcriptional activation (PubMed:23415232, PubMed:23934153, PubMed:8945521). Mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. Mediates acetylation of histone H3 at 'Lys-122' (H3K122ac), a modification that localizes at the surface of the histone octamer and stimulates transcription, possibly by promoting nucleosome instability. Mediates acetylation of histone H3 at 'Lys-27' (H3K27ac) (PubMed:23911289). Also functions as acetyltransferase for non-histone targets, such as ALX1, HDAC1, PRMT1 or SIRT2 (PubMed:12929931, PubMed:16762839, PubMed:18722353). Acetylates 'Lys-131' of ALX1 and acts as its coactivator (PubMed:12929931). Acetylates SIRT2 and is proposed to indirectly increase the transcriptional activity of p53/TP53 through acetylation and subsequent attenuation of SIRT2 deacetylase function (PubMed:18722353). Following DNA damage, forms a stress-responsive p53/TP53 coactivator complex with JMY which mediates p53/TP53 acetylation, thereby increasing p53/TP53-dependent transcription and apoptosis (PubMed:11511361, PubMed:15448695). Promotes chromatin acetylation in heat shock responsive HSP genes during the heat shock response (HSR), thereby stimulating HSR transcription (PubMed:18451878). Acetylates HDAC1 leading to its inactivation and modulation of transcription (PubMed:16762839). Acetylates 'Lys-247' of EGR2 (By similarity). Acts as a TFAP2A-mediated transcriptional coactivator in presence of CITED2 (PubMed:12586840). Plays a role as a coactivator of NEUROD1-dependent transcription of the secretin and p21 genes and controls terminal differentiation of cells in the intestinal epithelium. Promotes cardiac myocyte enlargement. Can also mediate transcriptional repression. Acetylates FOXO1 and enhances its transcriptional activity (PubMed:15890677). Acetylates BCL6 wich disrupts its ability to recruit histone deacetylases and hinders its transcriptional repressor activity (PubMed:12402037). Participates in CLOCK or NPAS2-regulated rhythmic gene transcription; exhibits a circadian association with CLOCK or NPAS2, correlating with increase in PER1/2 mRNA and histone H3 acetylation on the PER1/2 promoter (PubMed:14645221). Acetylates MTA1 at 'Lys-626' which is essential for its transcriptional coactivator activity (PubMed:16617102). Acetylates XBP1 isoform 2; acetylation increases protein stability of XBP1 isoform 2 and enhances its transcriptional activity (PubMed:20955178). Acetylates PCNA; acetylation promotes removal of chromatin-bound PCNA and its degradation during nucleotide excision repair (NER) (PubMed:24939902). Acetylates MEF2D (PubMed:21030595). Acetylates and stabilizes ZBTB7B protein by antagonizing ubiquitin conjugation and degradation, this mechanism may be involved in CD4/CD8 lineage differentiation (PubMed:20810990). Acetylates GABPB1, impairing GABPB1 heterotetramerization and activity (By similarity). Acetylates PCK1 and promotes PCK1 anaplerotic activity (PubMed:30193097). Acetylates RXRA and RXRG (PubMed:17761950). In addition to protein acetyltransferase, can use different acyl-CoA substrates, such as (2E)-butenoyl-CoA (crotonyl-CoA), butanoyl-CoA (butyryl-CoA), 2-hydroxyisobutanoyl-CoA (2-hydroxyisobutyryl-CoA), lactoyl-CoA or propanoyl-CoA (propionyl-CoA), and is able to mediate protein crotonylation, butyrylation, 2-hydroxyisobutyrylation, lactylation or propionylation, respectively (PubMed:17267393, PubMed:25818647, PubMed:29775581, PubMed:31645732). Acts as a histone crotonyltransferase; crotonylation marks active promoters and enhancers and confers resistance to transcriptional repressors (PubMed:25818647). Histone crotonyltransferase activity is dependent on the concentration of (2E)-butenoyl-CoA (crotonyl-CoA) substrate and such activity is weak when (2E)-butenoyl-CoA (crotonyl-CoA) concentration is low (PubMed:25818647). Also acts as a histone butyryltransferase; butyrylation marks active promoters (PubMed:17267393). Catalyzes histone lactylation in macrophages by using lactoyl-CoA directly derived from endogenous or exogenous lactate, leading to stimulates gene transcription (PubMed:31645732). Acts as a protein-lysine 2-hydroxyisobutyryltransferase; regulates glycolysis by mediating 2-hydroxyisobutyrylation of glycolytic enzymes (PubMed:29775581). Functions as a transcriptional coactivator for SMAD4 in the TGF-beta signaling pathway (PubMed:25514493). {ECO:0000250|UniProtKB:B2RWS6, ECO:0000269|PubMed:10733570, ECO:0000269|PubMed:11430825, ECO:0000269|PubMed:11511361, 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:15448695, ECO:0000269|PubMed:15890677, ECO:0000269|PubMed:16617102, ECO:0000269|PubMed:16762839, ECO:0000269|PubMed:17267393, ECO:0000269|PubMed:17761950, ECO:0000269|PubMed:18451878, 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:25514493, ECO:0000269|PubMed:25818647, ECO:0000269|PubMed:29775581, ECO:0000269|PubMed:30193097, ECO:0000269|PubMed:31645732, ECO:0000269|PubMed:8945521, ECO:0000305|PubMed:20955178}.; 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. Binds to and may be involved in the transforming capacity of the adenovirus E1A protein. {ECO:0000269|PubMed:10545121, ECO:0000269|PubMed:11080476}.
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Ensembl transtripts involved in fusion geneENST idsENST00000263253, ENST00000498400, 
ENST00000249016, ENST00000381433, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score20 X 17 X 12=40802 X 5 X 2=20
# samples 293
** MAII scorelog2(29/4080*10)=-3.81444434684392
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/20*10)=0.584962500721156
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Fusion gene context

PubMed: EP300 [Title/Abstract] AND MCHR1 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: EP300 [Title/Abstract] AND MCHR1 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EP300(41489102)-MCHR1(41076953), # samples:3
Anticipated loss of major functional domain due to fusion event.EP300-MCHR1 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.
EP300-MCHR1 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.
EP300-MCHR1 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.
EP300-MCHR1 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.
EP300-MCHR1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
EP300-MCHR1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
EP300-MCHR1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
EP300-MCHR1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
EP300-MCHR1 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
HgeneEP300

GO:0000122

negative regulation of transcription by RNA polymerase II

10733570

HgeneEP300

GO:0001666

response to hypoxia

9887100|15261140

HgeneEP300

GO:0006110

regulation of glycolytic process

29775581

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:0010976

positive regulation of neuron projection development

27256286

HgeneEP300

GO:0016573

histone acetylation

25818647|27256286

HgeneEP300

GO:0018076

N-terminal peptidyl-lysine acetylation

12435739

HgeneEP300

GO:0018393

internal peptidyl-lysine acetylation

17403783

HgeneEP300

GO:0018394

peptidyl-lysine acetylation

23811396|23962722

HgeneEP300

GO:0031333

negative regulation of protein complex assembly

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:0045721

negative regulation of gluconeogenesis

30193097

HgeneEP300

GO:0045815

positive regulation of gene expression, epigenetic

25818647

HgeneEP300

GO:0045944

positive regulation of transcription by RNA polymerase II

12586840|18722353|23811396

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|29775581

HgeneEP300

GO:1901224

positive regulation of NIK/NF-kappaB signaling

23811396

HgeneEP300

GO:1905636

positive regulation of RNA polymerase II regulatory region sequence-specific DNA binding

23811396



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/chr22:41489102/chr22:41076953)
- 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 EP300 (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 MCHR1 (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)
ENST00000263253EP300chr2241489102+ENST00000381433MCHR1chr2241076953+2070131312191914231
ENST00000263253EP300chr2241489102+ENST00000381433MCHR1chr2241076952+2070131312191914231

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
ENST00000263253ENST00000381433EP300chr2241489102+MCHR1chr2241076953+0.0471824630.9528175
ENST00000263253ENST00000381433EP300chr2241489102+MCHR1chr2241076952+0.0471824630.9528175

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 EP300-MCHR1

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
EP300chr2241489102MCHR1chr2241076952131331SSPALSASASDGTGSPPRTGSISYIN
EP300chr2241489102MCHR1chr2241076953131331SSPALSASASDGTGSPPRTGSISYIN

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Potential FusionNeoAntigen Information of EP300-MCHR1 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 EP300-MCHR1 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 EP300-MCHR1

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 EP300-MCHR1

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 EP300-MCHR1

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 EP300-MCHR1

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 EP300-MCHR1

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
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602114_1360423.0TransmembraneHelical%3B Name%3D1
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602149_1710423.0TransmembraneHelical%3B Name%3D2
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602186_2080423.0TransmembraneHelical%3B Name%3D3
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602228_2500423.0TransmembraneHelical%3B Name%3D4
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602279_3010423.0TransmembraneHelical%3B Name%3D5
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602322_3440423.0TransmembraneHelical%3B Name%3D6
TgeneMCHR1chr22:41489102chr22:41076952ENST0000024901602359_3810423.0TransmembraneHelical%3B Name%3D7
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602114_1360423.0TransmembraneHelical%3B Name%3D1
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602149_1710423.0TransmembraneHelical%3B Name%3D2
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602186_2080423.0TransmembraneHelical%3B Name%3D3
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602228_2500423.0TransmembraneHelical%3B Name%3D4
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602279_3010423.0TransmembraneHelical%3B Name%3D5
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602322_3440423.0TransmembraneHelical%3B Name%3D6
TgeneMCHR1chr22:41489102chr22:41076953ENST0000024901602359_3810423.0TransmembraneHelical%3B Name%3D7

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 EP300-MCHR1

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 EP300-MCHR1

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
HgeneEP300C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneEP300C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneEP300C0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneEP300C0005695Bladder Neoplasm1CTD_human
HgeneEP300C0006142Malignant neoplasm of breast1CGI;CTD_human;UNIPROT
HgeneEP300C0007137Squamous cell carcinoma1CTD_human
HgeneEP300C0007138Carcinoma, Transitional Cell1CTD_human
HgeneEP300C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneEP300C0014170Endometrial Neoplasms1CTD_human
HgeneEP300C0014518Toxic Epidermal Necrolysis1CTD_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
HgeneEP300C0476089Endometrial Carcinoma1CTD_human
HgeneEP300C0678222Breast Carcinoma1CGI;CTD_human
HgeneEP300C1257931Mammary Neoplasms, Human1CTD_human
HgeneEP300C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneEP300C1458155Mammary Neoplasms1CTD_human
HgeneEP300C3150941RUBINSTEIN-TAYBI SYNDROME 21GENOMICS_ENGLAND
HgeneEP300C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneEP300C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
HgeneEP300C4704874Mammary Carcinoma, Human1CTD_human