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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:SLC10A6-NUP214

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SLC10A6-NUP214
FusionPDB ID: 82190
FusionGDB2.0 ID: 82190
HgeneTgene
Gene symbol

SLC10A6

NUP214

Gene ID

345274

8021

Gene namesolute carrier family 10 member 6nucleoporin 214
SynonymsSOATCAIN|CAN|IIAE9
Cytomap

4q21.3

9q34.13

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 10 member 6sodium-dependent organic anion transportersolute carrier family 10 (sodium/bile acid cotransporter family), member 6solute carrier family 10 (sodium/bile acid cotransporter), member 6nuclear pore complex protein Nup214CAN protein, putative oncogenenucleoporin 214kDa
Modification date2020031320200322
UniProtAcc.

P35658

Main function of 5'-partner protein: FUNCTION: Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440). {ECO:0000269|PubMed:31178128, ECO:0000269|PubMed:9049309, ECO:0000303|PubMed:8108440}.; FUNCTION: (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro). {ECO:0000269|PubMed:25410864}.
Ensembl transtripts involved in fusion geneENST idsENST00000273905, ENST00000505535, 
ENST00000465486, ENST00000359428, 
ENST00000411637, ENST00000451030, 
ENST00000483497, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score1 X 1 X 1=119 X 26 X 11=5434
# samples 129
** MAII scorelog2(1/1*10)=3.32192809488736log2(29/5434*10)=-4.22788976020704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: SLC10A6 [Title/Abstract] AND NUP214 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: SLC10A6 [Title/Abstract] AND NUP214 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SLC10A6(87769891)-NUP214(134090598), # samples:1
Anticipated loss of major functional domain due to fusion event.SLC10A6-NUP214 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.
SLC10A6-NUP214 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/chr4:87769891/chr9:134090598)
- 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 SLC10A6 (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 NUP214 (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)
ENST00000273905SLC10A6chr487769891-ENST00000359428NUP214chr9134090598+23895251481359403
ENST00000273905SLC10A6chr487769891-ENST00000411637NUP214chr9134090598+23825251481359403
ENST00000273905SLC10A6chr487769891-ENST00000451030NUP214chr9134090598+14205251481359403
ENST00000273905SLC10A6chr487769891-ENST00000483497NUP214chr9134090598+14225251481359403

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
ENST00000273905ENST00000359428SLC10A6chr487769891-NUP214chr9134090598+0.100824940.89917505
ENST00000273905ENST00000411637SLC10A6chr487769891-NUP214chr9134090598+0.100220560.8997795
ENST00000273905ENST00000451030SLC10A6chr487769891-NUP214chr9134090598+0.159798650.8402013
ENST00000273905ENST00000483497SLC10A6chr487769891-NUP214chr9134090598+0.15726640.84273356

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 SLC10A6-NUP214

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
SLC10A6chr487769891NUP214chr9134090598525125NIFTFWVDGDMDLSNHPLPVVACLGL

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Potential FusionNeoAntigen Information of SLC10A6-NUP214 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.
SLC10A6-NUP214_87769891_134090598.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)
SLC10A6-NUP214chr487769891chr9134090598525HLA-B15:16LSNHPLPVV0.9430.81791221
SLC10A6-NUP214chr487769891chr9134090598525HLA-B39:01DMDLSNHPL0.62910.8466918
SLC10A6-NUP214chr487769891chr9134090598525HLA-B35:04DMDLSNHPL0.57510.8741918
SLC10A6-NUP214chr487769891chr9134090598525HLA-B35:02DMDLSNHPL0.57510.8741918
SLC10A6-NUP214chr487769891chr9134090598525HLA-C08:15DMDLSNHPL0.99980.9044918
SLC10A6-NUP214chr487769891chr9134090598525HLA-C15:06LSNHPLPVV0.99970.7991221
SLC10A6-NUP214chr487769891chr9134090598525HLA-C15:04LSNHPLPVV0.99950.78061221
SLC10A6-NUP214chr487769891chr9134090598525HLA-C12:04LSNHPLPVV0.99450.98391221
SLC10A6-NUP214chr487769891chr9134090598525HLA-B14:03DMDLSNHPL0.79910.6045918
SLC10A6-NUP214chr487769891chr9134090598525HLA-C02:06LSNHPLPVV0.57730.92011221
SLC10A6-NUP214chr487769891chr9134090598525HLA-B35:12DMDLSNHPL0.57510.8741918
SLC10A6-NUP214chr487769891chr9134090598525HLA-C15:02LSNHPLPVV0.99980.77551221
SLC10A6-NUP214chr487769891chr9134090598525HLA-C08:02DMDLSNHPL0.99980.9044918
SLC10A6-NUP214chr487769891chr9134090598525HLA-C15:05LSNHPLPVV0.99970.78931221
SLC10A6-NUP214chr487769891chr9134090598525HLA-C15:09LSNHPLPVV0.99950.78061221
SLC10A6-NUP214chr487769891chr9134090598525HLA-C16:02LSNHPLPVV0.98240.98481221
SLC10A6-NUP214chr487769891chr9134090598525HLA-B39:11DMDLSNHPL0.71430.6265918
SLC10A6-NUP214chr487769891chr9134090598525HLA-B35:09DMDLSNHPL0.57510.8741918
SLC10A6-NUP214chr487769891chr9134090598525HLA-B08:12DMDLSNHPL0.410.6141918

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Potential FusionNeoAntigen Information of SLC10A6-NUP214 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 SLC10A6-NUP214

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
9847VDGDMDLSNHPLPVSLC10A6NUP214chr487769891chr9134090598525

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of SLC10A6-NUP214

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-B14:023BVN9847VDGDMDLSNHPLPV-7.15543-7.26883
HLA-B14:023BVN9847VDGDMDLSNHPLPV-4.77435-5.80965
HLA-B52:013W399847VDGDMDLSNHPLPV-6.80875-6.92215
HLA-B52:013W399847VDGDMDLSNHPLPV-4.20386-5.23916
HLA-A11:014UQ29847VDGDMDLSNHPLPV-7.5194-8.5547
HLA-A11:014UQ29847VDGDMDLSNHPLPV-6.9601-7.0735
HLA-A24:025HGA9847VDGDMDLSNHPLPV-7.52403-7.63743
HLA-A24:025HGA9847VDGDMDLSNHPLPV-5.82433-6.85963
HLA-B27:056PYJ9847VDGDMDLSNHPLPV-3.28285-4.31815
HLA-B44:053DX89847VDGDMDLSNHPLPV-5.91172-6.94702
HLA-B44:053DX89847VDGDMDLSNHPLPV-4.24346-4.35686

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Vaccine Design for the FusionNeoAntigens of SLC10A6-NUP214

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
SLC10A6-NUP214chr487769891chr91340905981221LSNHPLPVVCAGCAATCATCCTCTTCCAGTGGTAGC
SLC10A6-NUP214chr487769891chr9134090598918DMDLSNHPLTATGGATCTCAGCAATCATCCTCTTCC

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 SLC10A6-NUP214

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
ESCASLC10A6-NUP214chr487769891ENST00000273905chr9134090598ENST00000359428TCGA-LN-A7HY

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Potential target of CAR-T therapy development for SLC10A6-NUP214

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
HgeneSLC10A6chr4:87769891chr9:134090598ENST00000273905-1630_50125378.0TransmembraneHelical
HgeneSLC10A6chr4:87769891chr9:134090598ENST00000273905-1668_88125378.0TransmembraneHelical
HgeneSLC10A6chr4:87769891chr9:134090598ENST00000273905-1698_118125378.0TransmembraneHelical

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 SLC10A6-NUP214

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 SLC10A6-NUP214

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
TgeneNUP214C0025958Microcephaly1GENOMICS_ENGLAND
TgeneNUP214C0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneNUP214C1836830Developmental regression1GENOMICS_ENGLAND
TgeneNUP214C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET