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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:NBN-SLC26A7

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

.
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
Context (manual curation of fusion genes in FusionPDB)

PubMed: NBN [Title/Abstract] AND SLC26A7 [Title/Abstract] AND fusion [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 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 Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4ESCATCGA-RE-A7BO-01ANBNchr8

90994950

-SLC26A7chr8

92406025

+


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Fusion ORF Analysis


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

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>57440_57440_1_NBN-SLC26A7_NBN_chr8_90994950_ENST00000265433_SLC26A7_chr8_92406025_ENST00000276609_length(amino acids)=121AA_BP=57
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS

--------------------------------------------------------------

>57440_57440_2_NBN-SLC26A7_NBN_chr8_90994950_ENST00000265433_SLC26A7_chr8_92406025_ENST00000309536_length(amino acids)=128AA_BP=57
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS

--------------------------------------------------------------

>57440_57440_3_NBN-SLC26A7_NBN_chr8_90994950_ENST00000265433_SLC26A7_chr8_92406025_ENST00000523719_length(amino acids)=121AA_BP=57
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS

--------------------------------------------------------------

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Fusion Protein Functional Features


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 buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NBN

O60934

.
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}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519641_656592.0657.0RegionMembrane targeting
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519641_656592.0664.0RegionMembrane targeting
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620641_656592.0657.0RegionMembrane targeting

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216448_45157.0755.0Compositional biasNote=Poly-Gln
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216448_4510673.0Compositional biasNote=Poly-Gln
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216105_18157.0755.0DomainNote=BRCT
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-21624_8357.0755.0DomainFHA
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216105_1810673.0DomainNote=BRCT
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-21624_830673.0DomainFHA
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216461_46757.0755.0MotifNote=Nuclear localization signal
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216736_74357.0755.0MotifNote=EEXXXDDL motif
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216461_4670673.0MotifNote=Nuclear localization signal
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216736_7430673.0MotifNote=EEXXXDDL motif
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519492_641592.0657.0DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519492_641592.0664.0DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620492_641592.0657.0DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519166_166592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519188_202592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST0000027660915191_75592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519224_227592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519249_254592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519276_306592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519328_343592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519365_383592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519426_448592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519470_656592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609151997_144592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519166_166592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519188_202592.0664.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST0000030953615191_75592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519224_227592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519249_254592.0664.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519276_306592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519328_343592.0664.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519365_383592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519426_448592.0664.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519470_656592.0664.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536151997_144592.0664.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620166_166592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620188_202592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST0000052371916201_75592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620224_227592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620249_254592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620276_306592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620328_343592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620365_383592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620426_448592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620470_656592.0657.0Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719162097_144592.0657.0Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519145_165592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519167_187592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519203_223592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519228_248592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519255_275592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519307_327592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519344_364592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519384_404592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519405_425592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000002766091519449_469592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609151976_96592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519145_165592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519167_187592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519203_223592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519228_248592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519255_275592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519307_327592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519344_364592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519384_404592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519405_425592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000003095361519449_469592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536151976_96592.0664.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620145_165592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620167_187592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620203_223592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620228_248592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620255_275592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620307_327592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620344_364592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620384_404592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620405_425592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST000005237191620449_469592.0657.0TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719162076_96592.0657.0TransmembraneHelical


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
NBN
SLC26A7


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216221_40257.0755.0MTOR%2C MAPKAP1 and RICTOR
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216221_4020673.0MTOR%2C MAPKAP1 and RICTOR


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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