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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:ARID1A-DGKA

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ARID1A-DGKA
FusionPDB ID: 6372
FusionGDB2.0 ID: 6372
HgeneTgene
Gene symbol

ARID1A

DGKA

Gene ID

8289

1606

Gene nameAT-rich interaction domain 1Adiacylglycerol kinase alpha
SynonymsB120|BAF250|BAF250a|BM029|C1orf4|CSS2|ELD|MRD14|OSA1|P270|SMARCF1|hELD|hOSA1DAGK|DAGK1|DGK-alpha
Cytomap

1p36.11

12q13.2

Type of geneprotein-codingprotein-coding
DescriptionAT-rich interactive domain-containing protein 1AARID domain-containing protein 1AAT rich interactive domain 1A (SWI-like)BRG1-associated factor 250aOSA1 nuclear proteinSWI-like proteinSWI/SNF complex protein p270SWI/SNF-related, matrix-associated, diacylglycerol kinase alpha80 kDa diacylglycerol kinaseDAG kinase alphadiacylglycerol kinase, alpha 80kDadiglyceride kinase alpha
Modification date2020032920200313
UniProtAcc

O14497

Main function of 5'-partner protein: FUNCTION: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Binds DNA non-specifically. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). {ECO:0000250|UniProtKB:A2BH40, ECO:0000303|PubMed:12672490, ECO:0000303|PubMed:22952240, ECO:0000303|PubMed:26601204}.

P23743

Main function of 5'-partner protein: FUNCTION: Diacylglycerol kinase that converts diacylglycerol/DAG into phosphatidic acid/phosphatidate/PA and regulates the respective levels of these two bioactive lipids (PubMed:2175712, PubMed:15544348). Thereby, acts as a central switch between the signaling pathways activated by these second messengers with different cellular targets and opposite effects in numerous biological processes (PubMed:2175712, PubMed:15544348). Also plays an important role in the biosynthesis of complex lipids (Probable). Can also phosphorylate 1-alkyl-2-acylglycerol in vitro as efficiently as diacylglycerol provided it contains an arachidonoyl group (PubMed:15544348). Also involved in the production of alkyl-lysophosphatidic acid, another bioactive lipid, through the phosphorylation of 1-alkyl-2-acetyl glycerol (PubMed:22627129). {ECO:0000269|PubMed:15544348, ECO:0000269|PubMed:2175712, ECO:0000269|PubMed:22627129, ECO:0000305}.
Ensembl transtripts involved in fusion geneENST idsENST00000324856, ENST00000374152, 
ENST00000457599, ENST00000540690, 
ENST00000549079, ENST00000331886, 
ENST00000394147, ENST00000551156, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score29 X 19 X 15=826511 X 10 X 7=770
# samples 4512
** MAII scorelog2(45/8265*10)=-4.19901791296264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/770*10)=-2.68182403997375
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: ARID1A [Title/Abstract] AND DGKA [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: ARID1A [Title/Abstract] AND DGKA [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ARID1A(27106722)-DGKA(56346689), # samples:2
Anticipated loss of major functional domain due to fusion event.ARID1A-DGKA 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.
ARID1A-DGKA 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.
ARID1A-DGKA 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.
ARID1A-DGKA 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.
ARID1A-DGKA seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
ARID1A-DGKA seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
ARID1A-DGKA seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ARID1A-DGKA seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
ARID1A-DGKA seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ARID1A-DGKA seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneARID1A

GO:0006337

nucleosome disassembly

8895581

HgeneARID1A

GO:0006338

chromatin remodeling

11726552

HgeneARID1A

GO:0030520

intracellular estrogen receptor signaling pathway

12200431

HgeneARID1A

GO:0030521

androgen receptor signaling pathway

12200431

HgeneARID1A

GO:0042921

glucocorticoid receptor signaling pathway

12200431

HgeneARID1A

GO:0045893

positive regulation of transcription, DNA-templated

12200431

TgeneDGKA

GO:0006654

phosphatidic acid biosynthetic process

22627129

TgeneDGKA

GO:0046339

diacylglycerol metabolic process

22627129

TgeneDGKA

GO:0046486

glycerolipid metabolic process

22627129

TgeneDGKA

GO:0046834

lipid phosphorylation

18004883|22627129



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/chr1:27106722/chr12:56346689)
- 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 ARID1A (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 DGKA (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)
ENST00000374152ARID1Achr127106722+ENST00000331886DGKAchr1256346689+5323478328347821499
ENST00000374152ARID1Achr127106722+ENST00000394147DGKAchr1256346689+5329478328347821499
ENST00000374152ARID1Achr127106722+ENST00000551156DGKAchr1256346689+5335478328347821499

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
ENST00000374152ENST00000331886ARID1Achr127106722+DGKAchr1256346689+0.0064436930.9935563
ENST00000374152ENST00000394147ARID1Achr127106722+DGKAchr1256346689+0.0063698420.9936301
ENST00000374152ENST00000551156ARID1Achr127106722+DGKAchr1256346689+0.0064869260.99351305

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 ARID1A-DGKA

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

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Potential FusionNeoAntigen Information of ARID1A-DGKA 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 ARID1A-DGKA 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 ARID1A-DGKA

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 ARID1A-DGKA

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 ARID1A-DGKA

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 ARID1A-DGKA

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 ARID1A-DGKA

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

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Related Drugs to ARID1A-DGKA

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 ARID1A-DGKA

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
HgeneARID1AC0024623Malignant neoplasm of stomach3CTD_human
HgeneARID1AC0038356Stomach Neoplasms3CTD_human
HgeneARID1AC1708349Hereditary Diffuse Gastric Cancer3CTD_human
HgeneARID1AC2239176Liver carcinoma3CTD_human
HgeneARID1AC0033578Prostatic Neoplasms2CTD_human
HgeneARID1AC0376358Malignant neoplasm of prostate2CTD_human
HgeneARID1AC0001418Adenocarcinoma1CTD_human
HgeneARID1AC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneARID1AC0005695Bladder Neoplasm1CTD_human
HgeneARID1AC0006413Burkitt Lymphoma1CTD_human
HgeneARID1AC0007138Carcinoma, Transitional Cell1CTD_human
HgeneARID1AC0009402Colorectal Carcinoma1CTD_human
HgeneARID1AC0009404Colorectal Neoplasms1CTD_human
HgeneARID1AC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneARID1AC0014170Endometrial Neoplasms1CTD_human
HgeneARID1AC0027708Nephroblastoma1CTD_human
HgeneARID1AC0027819Neuroblastoma1CTD_human
HgeneARID1AC0036920Sezary Syndrome1CTD_human
HgeneARID1AC0079772T-Cell Lymphoma1CTD_human
HgeneARID1AC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneARID1AC0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneARID1AC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneARID1AC0205643Carcinoma, Cribriform1CTD_human
HgeneARID1AC0205644Carcinoma, Granular Cell1CTD_human
HgeneARID1AC0205645Adenocarcinoma, Tubular1CTD_human
HgeneARID1AC0206656Embryonal Rhabdomyosarcoma1CTD_human
HgeneARID1AC0206698Cholangiocarcinoma1CTD_human
HgeneARID1AC0265338Coffin-Siris syndrome1CTD_human;GENOMICS_ENGLAND
HgeneARID1AC0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneARID1AC0343640African Burkitt's lymphoma1CTD_human
HgeneARID1AC0345905Intrahepatic Cholangiocarcinoma1CTD_human
HgeneARID1AC0376407Granulomatous Slack Skin1CTD_human
HgeneARID1AC0476089Endometrial Carcinoma1CTD_human
HgeneARID1AC0920269Microsatellite Instability1CTD_human
HgeneARID1AC1721098Replication Error Phenotype1CTD_human
HgeneARID1AC2930471Bilateral Wilms Tumor1CTD_human
HgeneARID1AC2931822Nasopharyngeal carcinoma1CTD_human
HgeneARID1AC3805278Extrahepatic Cholangiocarcinoma1CTD_human
HgeneARID1AC4721444Burkitt Leukemia1CTD_human