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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:SLC25A12-STAG2

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SLC25A12-STAG2
FusionPDB ID: 82545
FusionGDB2.0 ID: 82545
HgeneTgene
Gene symbol

SLC25A12

STAG2

Gene ID

8604

10735

Gene namesolute carrier family 25 member 12stromal antigen 2
SynonymsAGC1|ARALAR|EIEE39MKMS|NEDXCF|SA-2|SA2|SCC3B|bA517O1.1
Cytomap

2q31.1

Xq25

Type of geneprotein-codingprotein-coding
Descriptioncalcium-binding mitochondrial carrier protein Aralar1araceli hiperlargacalcium binding mitochondrial carrier superfamily member Aralar1mitochondrial aspartate glutamate carrier 1solute carrier family 25 (aspartate/glutamate carrier), member 12solute cohesin subunit SA-2SCC3 homolog 2
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000392592, ENST00000422440, 
ENST00000472748, 
ENST00000354548, 
ENST00000371144, ENST00000371145, 
ENST00000371157, ENST00000371160, 
ENST00000469481, ENST00000218089, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 10 X 6=66015 X 18 X 5=1350
# samples 1219
** MAII scorelog2(12/660*10)=-2.4594316186373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/1350*10)=-2.82888808360725
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SLC25A12 [Title/Abstract] AND STAG2 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SLC25A12 [Title/Abstract] AND STAG2 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SLC25A12(172725191)-STAG2(123227868), # samples:1
Anticipated loss of major functional domain due to fusion event.SLC25A12-STAG2 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.
SLC25A12-STAG2 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
HgeneSLC25A12

GO:0015810

aspartate transmembrane transport

11566871

HgeneSLC25A12

GO:0015813

L-glutamate transmembrane transport

11566871

HgeneSLC25A12

GO:0043490

malate-aspartate shuttle

11566871

HgeneSLC25A12

GO:0051592

response to calcium ion

11566871



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/chr2:172725191/chrX:123227868)
- 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 SLC25A12 (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 STAG2 (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)
ENST00000422440SLC25A12chr2172725191-ENST00000218089STAG2chrX123227868+137724738475145
ENST00000392592SLC25A12chr2172725191-ENST00000218089STAG2chrX123227868+13482189446145

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
ENST00000422440ENST00000218089SLC25A12chr2172725191-STAG2chrX123227868+0.0019382330.9980617
ENST00000392592ENST00000218089SLC25A12chr2172725191-STAG2chrX123227868+0.0023835220.9976165

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 SLC25A12-STAG2

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SLC25A12chr2172725191STAG2chrX12322786821870QLLAGVADQTKDGRRGTSLMEDDEEP
SLC25A12chr2172725191STAG2chrX12322786824770QLLAGVADQTKDGRRGTSLMEDDEEP

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Potential FusionNeoAntigen Information of SLC25A12-STAG2 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.
SLC25A12-STAG2_172725191_123227868.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)
SLC25A12-STAG2chr2172725191chrX123227868218HLA-B08:01DGRRGTSL0.99680.57511119
SLC25A12-STAG2chr2172725191chrX123227868218HLA-B07:10TKDGRRGTSL0.79680.7574919
SLC25A12-STAG2chr2172725191chrX123227868218HLA-B14:03TKDGRRGTSL0.96620.9109919
SLC25A12-STAG2chr2172725191chrX123227868218HLA-B08:18DGRRGTSL0.99680.57511119
SLC25A12-STAG2chr2172725191chrX123227868218HLA-B08:12DGRRGTSL0.89430.68941119

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Potential FusionNeoAntigen Information of SLC25A12-STAG2 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 SLC25A12-STAG2

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
126ADQTKDGRRGTSLMSLC25A12STAG2chr2172725191chrX123227868218

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SLC25A12-STAG2

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-B53:011A1O126ADQTKDGRRGTSLM-4.17128-4.28468
HLA-B53:011A1O126ADQTKDGRRGTSLM-3.4824-4.5177
HLA-B51:011E28126ADQTKDGRRGTSLM-3.8039-3.9173
HLA-B51:011E28126ADQTKDGRRGTSLM-3.0982-4.1335
HLA-B57:032BVO126ADQTKDGRRGTSLM-2.25252-3.28782
HLA-B57:032BVO126ADQTKDGRRGTSLM-1.1301-1.2435
HLA-A03:012XPG126ADQTKDGRRGTSLM-4.44786-4.56126
HLA-A03:012XPG126ADQTKDGRRGTSLM-4.14835-5.18365
HLA-B14:023BVN126ADQTKDGRRGTSLM-5.80238-5.91578
HLA-B14:023BVN126ADQTKDGRRGTSLM-3.55223-4.58753
HLA-B52:013W39126ADQTKDGRRGTSLM-5.11856-5.23196
HLA-B52:013W39126ADQTKDGRRGTSLM-3.25922-4.29452
HLA-B18:014JQV126ADQTKDGRRGTSLM-4.41315-4.52655
HLA-B18:014JQV126ADQTKDGRRGTSLM-3.36095-4.39625
HLA-A11:014UQ2126ADQTKDGRRGTSLM-8.56989-8.68329
HLA-A11:014UQ2126ADQTKDGRRGTSLM-6.72556-7.76086
HLA-A24:025HGA126ADQTKDGRRGTSLM-6.2734-6.3868
HLA-A24:025HGA126ADQTKDGRRGTSLM-4.24193-5.27723
HLA-B57:015VUD126ADQTKDGRRGTSLM-3.95679-4.99209
HLA-B57:015VUD126ADQTKDGRRGTSLM-2.97944-3.09284
HLA-C08:026JTP126ADQTKDGRRGTSLM-4.74128-4.85468
HLA-C08:026JTP126ADQTKDGRRGTSLM-2.44773-3.48303
HLA-B37:016MT4126ADQTKDGRRGTSLM-3.77829-4.81359
HLA-B27:056PYJ126ADQTKDGRRGTSLM-3.40019-3.51359
HLA-B27:056PYJ126ADQTKDGRRGTSLM-1.99024-3.02554
HLA-B27:036PZ5126ADQTKDGRRGTSLM-3.1249-3.2383
HLA-B27:036PZ5126ADQTKDGRRGTSLM-0.148491-1.18379
HLA-B44:053DX8126ADQTKDGRRGTSLM-5.76333-5.87673
HLA-B44:053DX8126ADQTKDGRRGTSLM-3.98513-5.02043
HLA-B44:021M6O126ADQTKDGRRGTSLM-1.76802-2.80332
HLA-B07:025EO0126ADQTKDGRRGTSLM-3.47003-3.58343
HLA-B07:025EO0126ADQTKDGRRGTSLM0.983323-0.0519774
HLA-A02:016TDR126ADQTKDGRRGTSLM-2.71064-3.74594
HLA-A02:016TDR126ADQTKDGRRGTSLM-2.80613-2.91953

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Vaccine Design for the FusionNeoAntigens of SLC25A12-STAG2

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
SLC25A12-STAG2chr2172725191chrX1232278681119DGRRGTSLGGATGGTCGGCGTGGCACAAGCCT
SLC25A12-STAG2chr2172725191chrX123227868919TKDGRRGTSLAACCAAGGATGGTCGGCGTGGCACAAGCCT

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 SLC25A12-STAG2

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
Non-CancerSLC25A12-STAG2chr2172725191ENST00000392592chrX123227868ENST00000218089ERR188190

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Potential target of CAR-T therapy development for SLC25A12-STAG2

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 SLC25A12-STAG2

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 SLC25A12-STAG2

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