FusionNeoAntigen Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine
leaf

Fusion Gene and Fusion Protein Summary

leaf

Fusion Amino Acid Sequences (multiple BPs and multiple gene isoforms)

leaf

Fusion Protein Breakpoint Sequences - (for the Screening of the FusionNeoAntigens)

leaf

Potential FusionNeoAntigens in HLA I - (netMHCpan v4.1 + deepHLApan v1.1)

leaf

Potential FusionNeoAntigens in HLA II - (netMHCIIpan v4.1)

leaf

Fusion Breakpoint 14 AA Peptide Structure - (RoseTTAFold)

leaf

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D - (Glide)

leaf

Vaccine Design for the FusionNeoAntigens (RNA/protein sequences)

leaf

Potential target of CAR-T therapy development

leaf

Information on the samples that have these potential fusion neoantigens

leaf

Fusion Protein Targeting Drugs - (Manual Curation)

leaf

Fusion Protein Related diseases - (Manual Curation)

Fusion Protein:EEA1-PAH

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: EEA1-PAH
FusionPDB ID: 25007
FusionGDB2.0 ID: 25007
HgeneTgene
Gene symbol

EEA1

PAH

Gene ID

8411

5053

Gene nameearly endosome antigen 1phenylalanine hydroxylase
SynonymsMST105|MSTP105|ZFYVE2PH|PKU|PKU1
Cytomap

12q22

12q23.2

Type of geneprotein-codingprotein-coding
Descriptionearly endosome antigen 1early endosome antigen 1, 162kDearly endosome-associated proteinendosome-associated protein p162zinc finger FYVE domain-containing protein 2phenylalanine-4-hydroxylasephe-4-monooxygenasephenylalanine 4-monooxygenase
Modification date2020031320200313
UniProtAcc

Q15075

Main function of 5'-partner protein: FUNCTION: Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in endosomal trafficking.
.
Ensembl transtripts involved in fusion geneENST idsENST00000322349, ENST00000547833, 
ENST00000551988, ENST00000307000, 
ENST00000553106, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score14 X 12 X 10=16806 X 5 X 5=150
# samples 217
** MAII scorelog2(21/1680*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: EEA1 [Title/Abstract] AND PAH [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: EEA1 [Title/Abstract] AND PAH [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)EEA1(93258636)-PAH(103249110), # samples:3
Anticipated loss of major functional domain due to fusion event.EEA1-PAH 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.
EEA1-PAH 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.
EEA1-PAH 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.
EEA1-PAH 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


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/chr12:93258636/chr12:103249110)
- 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 EEA1 (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 PAH (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

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)
ENST00000322349EEA1chr1293258636-ENST00000553106PAHchr12103249110-36505102651359364
ENST00000322349EEA1chr1293258636-ENST00000307000PAHchr12103249110-22145102651359364
ENST00000322349EEA1chr1293258635-ENST00000553106PAHchr12103249110-36505102651359364
ENST00000322349EEA1chr1293258635-ENST00000307000PAHchr12103249110-22145102651359364

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
ENST00000322349ENST00000553106EEA1chr1293258636-PAHchr12103249110-0.0001996350.9998004
ENST00000322349ENST00000307000EEA1chr1293258636-PAHchr12103249110-0.0004143440.9995857
ENST00000322349ENST00000553106EEA1chr1293258635-PAHchr12103249110-0.0001996350.9998004
ENST00000322349ENST00000307000EEA1chr1293258635-PAHchr12103249110-0.0004143440.9995857

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

Top

Fusion Protein Breakpoint Sequences for EEA1-PAH

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
EEA1chr1293258635PAHchr1210324911051082SGHGGESNLALKRGQPIPRVEYMEEE
EEA1chr1293258636PAHchr1210324911051082SGHGGESNLALKRGQPIPRVEYMEEE

Top

Potential FusionNeoAntigen Information of EEA1-PAH 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.
EEA1-PAH_93258635_103249110.msa

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)
EEA1-PAHchr1293258635chr12103249110510HLA-B27:05KRGQPIPRV0.99940.59931120
EEA1-PAHchr1293258635chr12103249110510HLA-B27:04KRGQPIPRV0.99920.68881120
EEA1-PAHchr1293258635chr12103249110510HLA-B27:07KRGQPIPRV0.99920.73851120
EEA1-PAHchr1293258635chr12103249110510HLA-B08:01LALKRGQPI0.99780.7429817
EEA1-PAHchr1293258635chr12103249110510HLA-B15:01RGQPIPRVEY0.99880.89551222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:25RGQPIPRVEY0.99590.9341222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:03RGQPIPRVEY0.93820.82961222
EEA1-PAHchr1293258635chr12103249110510HLA-A74:03ALKRGQPIPR0.9220.8737919
EEA1-PAHchr1293258635chr12103249110510HLA-A74:09ALKRGQPIPR0.9220.8737919
EEA1-PAHchr1293258635chr12103249110510HLA-A74:11ALKRGQPIPR0.9220.8737919
EEA1-PAHchr1293258635chr12103249110510HLA-B27:05KRGQPIPRVEY10.57631122
EEA1-PAHchr1293258635chr12103249110510HLA-B27:04KRGQPIPRVEY10.68631122
EEA1-PAHchr1293258635chr12103249110510HLA-B81:01RGQPIPRVEYM0.97780.64191223
EEA1-PAHchr1293258635chr12103249110510HLA-B07:02RGQPIPRVEYM0.91260.58921223
EEA1-PAHchr1293258635chr12103249110510HLA-B27:14KRGQPIPRV0.99930.62331120
EEA1-PAHchr1293258635chr12103249110510HLA-B27:03KRGQPIPRV0.9730.62431120
EEA1-PAHchr1293258635chr12103249110510HLA-C07:05KRGQPIPRV0.95250.95451120
EEA1-PAHchr1293258635chr12103249110510HLA-C07:95KRGQPIPRV0.87850.7881120
EEA1-PAHchr1293258635chr12103249110510HLA-B15:07RGQPIPRVEY0.99690.72051222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:04RGQPIPRVEY0.97330.91841222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:05RGQPIPRVEY0.93860.91091222
EEA1-PAHchr1293258635chr12103249110510HLA-A31:01ALKRGQPIPR0.92740.8412919
EEA1-PAHchr1293258635chr12103249110510HLA-B27:03KRGQPIPRVEY0.99960.59811122
EEA1-PAHchr1293258635chr12103249110510HLA-C07:46KRGQPIPRVEY0.99720.84381122
EEA1-PAHchr1293258635chr12103249110510HLA-B15:07KRGQPIPRVEY0.99540.67081122
EEA1-PAHchr1293258635chr12103249110510HLA-B07:04RGQPIPRVEYM0.99120.59931223
EEA1-PAHchr1293258635chr12103249110510HLA-B42:02RGQPIPRVEYM0.95740.74911223
EEA1-PAHchr1293258635chr12103249110510HLA-B42:01RGQPIPRVEYM0.93430.73891223
EEA1-PAHchr1293258635chr12103249110510HLA-B27:10KRGQPIPRV0.99920.75151120
EEA1-PAHchr1293258635chr12103249110510HLA-B27:09KRGQPIPRV0.99910.59581120
EEA1-PAHchr1293258635chr12103249110510HLA-B27:06KRGQPIPRV0.99910.75621120
EEA1-PAHchr1293258635chr12103249110510HLA-B08:18LALKRGQPI0.99780.7429817
EEA1-PAHchr1293258635chr12103249110510HLA-C03:17LALKRGQPI0.96650.9484817
EEA1-PAHchr1293258635chr12103249110510HLA-C07:01KRGQPIPRV0.93330.77071120
EEA1-PAHchr1293258635chr12103249110510HLA-C06:08KRGQPIPRV0.75170.99461120
EEA1-PAHchr1293258635chr12103249110510HLA-C07:22KRGQPIPRV0.48090.80071120
EEA1-PAHchr1293258635chr12103249110510HLA-C06:06KRGQPIPRV0.36850.99271120
EEA1-PAHchr1293258635chr12103249110510HLA-C06:17KRGQPIPRV0.03630.99491120
EEA1-PAHchr1293258635chr12103249110510HLA-C06:02KRGQPIPRV0.03630.99491120
EEA1-PAHchr1293258635chr12103249110510HLA-B15:34RGQPIPRVEY0.99880.89551222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:33RGQPIPRVEY0.99880.89551222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:27RGQPIPRVEY0.99880.91661222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:125RGQPIPRVEY0.99880.89551222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:53RGQPIPRVEY0.99860.88511222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:135RGQPIPRVEY0.99860.90671222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:12RGQPIPRVEY0.99780.84291222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:50RGQPIPRVEY0.99760.87371222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:39RGQPIPRVEY0.99670.88231222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:35RGQPIPRVEY0.99660.90851222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:54RGQPIPRVEY0.98590.85531222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:68RGQPIPRVEY0.94550.63421222
EEA1-PAHchr1293258635chr12103249110510HLA-B15:20RGQPIPRVEY0.93760.94141222
EEA1-PAHchr1293258635chr12103249110510HLA-A74:01ALKRGQPIPR0.9220.8737919
EEA1-PAHchr1293258635chr12103249110510HLA-B35:28RGQPIPRVEY0.91350.94351222
EEA1-PAHchr1293258635chr12103249110510HLA-B27:10KRGQPIPRVEY10.76271122
EEA1-PAHchr1293258635chr12103249110510HLA-B15:27KRGQPIPRVEY0.99860.86211122
EEA1-PAHchr1293258635chr12103249110510HLA-B15:50KRGQPIPRVEY0.99810.81591122
EEA1-PAHchr1293258635chr12103249110510HLA-B15:35KRGQPIPRVEY0.99560.861122
EEA1-PAHchr1293258635chr12103249110510HLA-B07:26RGQPIPRVEYM0.9950.6061223
EEA1-PAHchr1293258635chr12103249110510HLA-B15:68KRGQPIPRVEY0.98650.56881122
EEA1-PAHchr1293258635chr12103249110510HLA-B07:09RGQPIPRVEYM0.93290.59651223
EEA1-PAHchr1293258635chr12103249110510HLA-B07:22RGQPIPRVEYM0.91260.58921223

Top

Potential FusionNeoAntigen Information of EEA1-PAH 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.
EEA1-PAH_93258635_103249110.msa

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)
EEA1-PAHchr1293258635chr12103249110510DRB1-0103ESNLALKRGQPIPRV520
EEA1-PAHchr1293258635chr12103249110510DRB1-0103GESNLALKRGQPIPR419
EEA1-PAHchr1293258635chr12103249110510DRB1-1331ESNLALKRGQPIPRV520
EEA1-PAHchr1293258635chr12103249110510DRB1-1331GESNLALKRGQPIPR419
EEA1-PAHchr1293258635chr12103249110510DRB1-1354ESNLALKRGQPIPRV520
EEA1-PAHchr1293258635chr12103249110510DRB1-1354GESNLALKRGQPIPR419
EEA1-PAHchr1293258635chr12103249110510DRB1-1510ESNLALKRGQPIPRV520
EEA1-PAHchr1293258635chr12103249110510DRB1-1510GESNLALKRGQPIPR419

Top

Fusion breakpoint peptide structures of EEA1-PAH

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.
File nameBPseqHgeneTgeneHchrHbpTchrTbpAAlen
8857SNLALKRGQPIPRVEEA1PAHchr1293258635chr12103249110510

Top

Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of EEA1-PAH

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
HLA-B14:023BVN8857SNLALKRGQPIPRV-7.9962-8.1096
HLA-B14:023BVN8857SNLALKRGQPIPRV-5.70842-6.74372
HLA-B52:013W398857SNLALKRGQPIPRV-6.83737-6.95077
HLA-B52:013W398857SNLALKRGQPIPRV-4.4836-5.5189
HLA-A11:014UQ28857SNLALKRGQPIPRV-10.0067-10.1201
HLA-A11:014UQ28857SNLALKRGQPIPRV-9.03915-10.0745
HLA-A24:025HGA8857SNLALKRGQPIPRV-6.56204-6.67544
HLA-A24:025HGA8857SNLALKRGQPIPRV-5.42271-6.45801
HLA-B44:053DX88857SNLALKRGQPIPRV-7.85648-8.89178
HLA-B44:053DX88857SNLALKRGQPIPRV-5.3978-5.5112
HLA-A02:016TDR8857SNLALKRGQPIPRV-3.37154-4.40684

Top

Vaccine Design for the FusionNeoAntigens of EEA1-PAH

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
EEA1-PAHchr1293258635chr121032491101120KRGQPIPRVGAAGCGTGGGCAGCCCATCCCTCGAGT
EEA1-PAHchr1293258635chr121032491101122KRGQPIPRVEYGAAGCGTGGGCAGCCCATCCCTCGAGTGGAATA
EEA1-PAHchr1293258635chr121032491101222RGQPIPRVEYGCGTGGGCAGCCCATCCCTCGAGTGGAATA
EEA1-PAHchr1293258635chr121032491101223RGQPIPRVEYMGCGTGGGCAGCCCATCCCTCGAGTGGAATACAT
EEA1-PAHchr1293258635chr12103249110817LALKRGQPITCTTGCTTTGAAGCGTGGGCAGCCCAT
EEA1-PAHchr1293258635chr12103249110919ALKRGQPIPRTGCTTTGAAGCGTGGGCAGCCCATCCCTCG

check button mRNA and peptide sequences of FusionNeoAntigens that have potential interaction with HLA-IIs.
Fusion geneHchrHbpTchrTbpStart in +/-13AAEnd in +/-13AAFusionNeoAntigen peptideFusionNEoAntigen RNA sequence
EEA1-PAHchr1293258635chr12103249110419GESNLALKRGQPIPRAGGAGAGTCTAATCTTGCTTTGAAGCGTGGGCAGCCCATCCCTCG
EEA1-PAHchr1293258635chr12103249110520ESNLALKRGQPIPRVAGAGTCTAATCTTGCTTTGAAGCGTGGGCAGCCCATCCCTCGAGT

Top

Information of the samples that have these potential fusion neoantigens of EEA1-PAH

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
BRCAEEA1-PAHchr1293258635ENST00000322349chr12103249110ENST00000307000TCGA-BH-A0B7

Top

Potential target of CAR-T therapy development for EEA1-PAH

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

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

Top

Related Drugs to EEA1-PAH

check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to EEA1-PAH

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