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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:NBN-SLC26A7

Fusion Gene and Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: NBN-SLC26A7
FusionPDB ID: 57440
FusionGDB2.0 ID: 57440
HgeneTgene
Gene symbol

NBN

SLC26A7

Gene ID

9048

115111

Gene namearteminsolute carrier family 26 member 7
SynonymsART|ENOVIN|EVN|NBNSUT2
Cytomap

1p34.1

8q21.3

Type of geneprotein-codingprotein-coding
Descriptionarteminneublastinanion exchange transportersolute carrier family 26 (anion exchanger), member 7solute carrier family 6 member 7sulfate anion transporter
Modification date2020031320200313
UniProtAcc

O60934

Main function of 5'-partner protein: FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. {ECO:0000269|PubMed:10888888, ECO:0000269|PubMed:15616588, ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:23762398, ECO:0000269|PubMed:9705271}.
.
Ensembl transtripts involved in fusion geneENST idsENST00000265433, ENST00000409330, 
ENST00000520249, ENST00000276609, 
ENST00000309536, ENST00000523719, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 4 X 4=649 X 8 X 6=432
# samples 49
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/432*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Fusion gene context

PubMed: NBN [Title/Abstract] AND SLC26A7 [Title/Abstract] AND fusion [Title/Abstract]

Fusion neoantigen context

PubMed: NBN [Title/Abstract] AND SLC26A7 [Title/Abstract] AND neoantigen [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)NBN(90994950)-SLC26A7(92406025), # samples:1
Anticipated loss of major functional domain due to fusion event.NBN-SLC26A7 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.
NBN-SLC26A7 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.
NBN-SLC26A7 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.
NBN-SLC26A7 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
TgeneSLC26A7

GO:0006820

anion transport

11834742

TgeneSLC26A7

GO:0006821

chloride transport

1183472

TgeneSLC26A7

GO:0008272

sulfate transport

1183472

TgeneSLC26A7

GO:0019532

oxalate transport

1183472



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/chr8:90994950/chr8:92406025)
- 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 NBN (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 SLC26A7 (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)
ENST00000265433NBNchr890994950-ENST00000523719SLC26A7chr892406025+1180326155520121
ENST00000265433NBNchr890994950-ENST00000276609SLC26A7chr892406025+3574326155520121
ENST00000265433NBNchr890994950-ENST00000309536SLC26A7chr892406025+986326155541128

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
ENST00000265433ENST00000523719NBNchr890994950-SLC26A7chr892406025+0.0061735540.99382645
ENST00000265433ENST00000276609NBNchr890994950-SLC26A7chr892406025+0.0115850920.9884149
ENST00000265433ENST00000309536NBNchr890994950-SLC26A7chr892406025+0.0060417210.99395823

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 NBN-SLC26A7

check button +/-13 AA sequence from the breakpoints of the fusion protein sequences.
HgeneHchrHbpTgeneTchrTbpLength(fusion protein)BP in fusion proteinPeptide
NBNchr890994950SLC26A7chr89240602532657HAVLTANFSVTNLVYMDCKGRSVDVL

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Potential FusionNeoAntigen Information of NBN-SLC26A7 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.
NBN-SLC26A7_90994950_92406025.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)
NBN-SLC26A7chr890994950chr892406025326HLA-B15:16FSVTNLVYM0.97370.5011716
NBN-SLC26A7chr890994950chr892406025326HLA-B15:02NFSVTNLVY0.73020.724615
NBN-SLC26A7chr890994950chr892406025326HLA-B52:01ANFSVTNLV0.36110.9616514
NBN-SLC26A7chr890994950chr892406025326HLA-C15:04FSVTNLVY0.99730.8252715
NBN-SLC26A7chr890994950chr892406025326HLA-C03:08FSVTNLVYM0.99870.8309716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:19FSVTNLVYM0.99790.9851716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:07FSVTNLVYM0.99770.9791716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:06FSVTNLVYM0.99740.8764716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:04FSVTNLVYM0.99740.8481716
NBN-SLC26A7chr890994950chr892406025326HLA-C04:06FSVTNLVYM0.99270.6407716
NBN-SLC26A7chr890994950chr892406025326HLA-C06:03FSVTNLVYM0.96880.9919716
NBN-SLC26A7chr890994950chr892406025326HLA-C12:04FSVTNLVYM0.96770.9946716
NBN-SLC26A7chr890994950chr892406025326HLA-C08:04FSVTNLVYM0.96340.9145716
NBN-SLC26A7chr890994950chr892406025326HLA-C08:13FSVTNLVYM0.96340.9145716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:14FSVTNLVYM0.95730.9601716
NBN-SLC26A7chr890994950chr892406025326HLA-C12:12FSVTNLVYM0.93510.8881716
NBN-SLC26A7chr890994950chr892406025326HLA-C08:03FSVTNLVYM0.91860.921716
NBN-SLC26A7chr890994950chr892406025326HLA-B15:31NFSVTNLVY0.78620.657615
NBN-SLC26A7chr890994950chr892406025326HLA-B15:21NFSVTNLVY0.7510.693615
NBN-SLC26A7chr890994950chr892406025326HLA-C02:06FSVTNLVYM0.56650.9773716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:09FSVTNLVY0.99730.8252715
NBN-SLC26A7chr890994950chr892406025326HLA-C03:02FSVTNLVY0.99670.9403715
NBN-SLC26A7chr890994950chr892406025326HLA-C12:02FSVTNLVY0.98860.9504715
NBN-SLC26A7chr890994950chr892406025326HLA-C16:04FSVTNLVY0.98580.971715
NBN-SLC26A7chr890994950chr892406025326HLA-C16:01FSVTNLVY0.85770.9682715
NBN-SLC26A7chr890994950chr892406025326HLA-C03:04FSVTNLVYM0.99850.9871716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:03FSVTNLVYM0.99850.9871716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:02FSVTNLVYM0.99840.9551716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:09FSVTNLVYM0.99740.8481716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:67FSVTNLVYM0.99720.9702716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:05FSVTNLVYM0.99640.8738716
NBN-SLC26A7chr890994950chr892406025326HLA-C15:02FSVTNLVYM0.99570.8404716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:05FSVTNLVYM0.99510.8873716
NBN-SLC26A7chr890994950chr892406025326HLA-C16:04FSVTNLVYM0.99510.9764716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:17FSVTNLVYM0.99480.9545716
NBN-SLC26A7chr890994950chr892406025326HLA-C12:02FSVTNLVYM0.98060.9614716
NBN-SLC26A7chr890994950chr892406025326HLA-C03:06FSVTNLVYM0.97080.9864716
NBN-SLC26A7chr890994950chr892406025326HLA-C12:03FSVTNLVYM0.96760.9717716
NBN-SLC26A7chr890994950chr892406025326HLA-C08:01FSVTNLVYM0.91860.921716
NBN-SLC26A7chr890994950chr892406025326HLA-C16:01FSVTNLVYM0.91630.9729716
NBN-SLC26A7chr890994950chr892406025326HLA-C16:02FSVTNLVYM0.91290.9896716
NBN-SLC26A7chr890994950chr892406025326HLA-B35:20NFSVTNLVY0.76380.7316615
NBN-SLC26A7chr890994950chr892406025326HLA-C02:10FSVTNLVYM0.45760.9817716
NBN-SLC26A7chr890994950chr892406025326HLA-C02:02FSVTNLVYM0.45760.9817716
NBN-SLC26A7chr890994950chr892406025326HLA-C17:01FSVTNLVYM0.45270.7182716
NBN-SLC26A7chr890994950chr892406025326HLA-C07:17NFSVTNLVY0.31620.9103615
NBN-SLC26A7chr890994950chr892406025326HLA-C14:03NFSVTNLVY0.00150.7693615
NBN-SLC26A7chr890994950chr892406025326HLA-C14:02NFSVTNLVY0.00150.7693615
NBN-SLC26A7chr890994950chr892406025326HLA-A68:02TANFSVTNLV0.97920.5714414

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Potential FusionNeoAntigen Information of NBN-SLC26A7 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 NBN-SLC26A7

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
6161NFSVTNLVYMDCKGNBNSLC26A7chr890994950chr892406025326

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Filtering FusionNeoAntigens Through Checking the Interaction with HLAs in 3D of NBN-SLC26A7

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-B14:023BVN6161NFSVTNLVYMDCKG-8.62545-8.73885
HLA-B14:023BVN6161NFSVTNLVYMDCKG-3.26321-4.29851
HLA-B52:013W396161NFSVTNLVYMDCKG-6.23413-6.34753
HLA-B52:013W396161NFSVTNLVYMDCKG-4.55402-5.58932
HLA-A24:025HGA6161NFSVTNLVYMDCKG-8.62578-8.73918
HLA-A24:025HGA6161NFSVTNLVYMDCKG-6.438-7.4733
HLA-B44:053DX86161NFSVTNLVYMDCKG-5.68484-5.79824
HLA-B44:053DX86161NFSVTNLVYMDCKG-3.64855-4.68385
HLA-A02:016TDR6161NFSVTNLVYMDCKG-5.14764-6.18294

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Vaccine Design for the FusionNeoAntigens of NBN-SLC26A7

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
NBN-SLC26A7chr890994950chr892406025414TANFSVTNLVACTGCTAACTTTTCTGTAACCAACCTGGTT
NBN-SLC26A7chr890994950chr892406025514ANFSVTNLVGCTAACTTTTCTGTAACCAACCTGGTT
NBN-SLC26A7chr890994950chr892406025615NFSVTNLVYAACTTTTCTGTAACCAACCTGGTTTAC
NBN-SLC26A7chr890994950chr892406025715FSVTNLVYTTTTCTGTAACCAACCTGGTTTAC
NBN-SLC26A7chr890994950chr892406025716FSVTNLVYMTTTTCTGTAACCAACCTGGTTTACATG

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 NBN-SLC26A7

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
ESCANBN-SLC26A7chr890994950ENST00000265433chr892406025ENST00000276609TCGA-RE-A7BO-01A

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Potential target of CAR-T therapy development for NBN-SLC26A7

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 NBN-SLC26A7

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 NBN-SLC26A7

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