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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 23509

FusionGeneSummary for NBN_SLC26A7

check button Fusion gene summary
Fusion gene informationFusion gene name: NBN_SLC26A7
Fusion gene ID: 23509
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 7sulfate anion transporter
Modification date2018051920180523
UniProtAcc

O60934

Q8TE54

Ensembl transtripts involved in fusion geneENST00000265433, ENST00000409330, 
ENST00000523719, ENST00000276609, 
ENST00000309536, ENST00000520249, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 6 X 6=252
# samples 27
** MAII scorelog2(2/8*10)=1.32192809488736log2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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 Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVESCATCGA-RE-A7BO-01ANBNchr8

90994950

-SLC26A7chr8

92406025

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000265433ENST00000523719NBNchr8

90994950

-SLC26A7chr8

92406025

+
In-frameENST00000265433ENST00000276609NBNchr8

90994950

-SLC26A7chr8

92406025

+
In-frameENST00000265433ENST00000309536NBNchr8

90994950

-SLC26A7chr8

92406025

+
5CDS-3UTRENST00000265433ENST00000520249NBNchr8

90994950

-SLC26A7chr8

92406025

+
5UTR-3CDSENST00000409330ENST00000523719NBNchr8

90994950

-SLC26A7chr8

92406025

+
5UTR-3CDSENST00000409330ENST00000276609NBNchr8

90994950

-SLC26A7chr8

92406025

+
5UTR-3CDSENST00000409330ENST00000309536NBNchr8

90994950

-SLC26A7chr8

92406025

+
5UTR-3UTRENST00000409330ENST00000520249NBNchr8

90994950

-SLC26A7chr8

92406025

+

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FusionProtFeatures for NBN_SLC26A7


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

O60934

SLC26A7

Q8TE54

Component of the MRE11-RAD50-NBN (MRN complex) whichplays a critical role in the cellular response to DNA damage andthe maintenance of chromosome integrity. The complex is involvedin double-strand break (DSB) repair, DNA recombination,maintenance of telomere integrity, cell cycle checkpoint controland meiosis. The complex possesses single-strand endonucleaseactivity and double-strand-specific 3'-5' exonuclease activity,which are provided by MRE11. RAD50 may be required to bind DNAends and hold them in close proximity. NBN modulate the DNA damagesignal sensing by recruiting PI3/PI4-kinase family members ATM,ATR, and probably DNA-PKcs to the DNA damage sites and activatingtheir functions. It can also recruit MRE11 and RAD50 to theproximity of DSBs by an interaction with the histone H2AX. NBNalso functions in telomere length maintenance by generating the 3'overhang which serves as a primer for telomerase dependenttelomere elongation. NBN is a major player in the control ofintra-S-phase checkpoint and there is some evidence that NBN isinvolved in G1 and G2 checkpoints. The roles of NBS1/MRN encompassDNA damage sensor, signal transducer, and effector, which enablecells to maintain DNA integrity and genomic stability. Forms acomplex with RBBP8 to link DNA double-strand break sensing toresection. Enhances AKT1 phosphorylation possibly by associationwith the mTORC2 complex. {ECO:0000269|PubMed:10888888,ECO:0000269|PubMed:15616588, ECO:0000269|PubMed:19759395,ECO:0000269|PubMed:23762398, ECO:0000269|PubMed:9705271}. Acts as a sodium-independent DIDS-sensitive anionexchanger mediating bicarbonate, chloride, sulfate and oxalatetransport. May play a role in the maintenance of the electrolyteand acid-base homeostasis in the kidney, by acting as a distalexcretory segment-specific anion exchanger. Plays a major role ingastric acid secretion. {ECO:0000250|UniProtKB:Q8R2Z3,ECO:0000269|PubMed:11834742, ECO:0000269|PubMed:12736153}.

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.
- In-frame and retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519641_656592657RegionMembrane targeting
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519641_656592664RegionMembrane targeting
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620641_656592657RegionMembrane targeting

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216448_45157755Compositional biasNote=Poly-Gln
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216448_451-25673Compositional biasNote=Poly-Gln
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216105_18157755DomainNote=BRCT
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-21624_8357755DomainFHA
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216105_181-25673DomainNote=BRCT
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-21624_83-25673DomainFHA
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216461_46757755MotifNote=Nuclear localization signal
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216736_74357755MotifNote=EEXXXDDL motif
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216461_467-25673MotifNote=Nuclear localization signal
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216736_743-25673MotifNote=EEXXXDDL motif
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519492_641592657DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519492_641592664DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620492_641592657DomainSTAS
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519166_166592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519188_202592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+15191_75592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519224_227592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519249_254592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519276_306592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519328_343592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519365_383592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519426_448592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519470_656592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+151997_144592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519166_166592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519188_202592664Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+15191_75592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519224_227592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519249_254592664Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519276_306592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519328_343592664Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519365_383592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519426_448592664Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519470_656592664Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+151997_144592664Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620166_166592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620188_202592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+16201_75592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620224_227592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620249_254592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620276_306592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620328_343592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620365_383592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620426_448592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620470_656592657Topological domainCytoplasmic
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+162097_144592657Topological domainExtracellular
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519145_165592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519167_187592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519203_223592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519228_248592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519255_275592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519307_327592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519344_364592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519384_404592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519405_425592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+1519449_469592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000276609+151976_96592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519145_165592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519167_187592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519203_223592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519228_248592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519255_275592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519307_327592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519344_364592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519384_404592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519405_425592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+1519449_469592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000309536+151976_96592664TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620145_165592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620167_187592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620203_223592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620228_248592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620255_275592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620307_327592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620344_364592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620384_404592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620405_425592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+1620449_469592657TransmembraneHelical
TgeneSLC26A7chr8:90994950chr8:92406025ENST00000523719+162076_96592657TransmembraneHelical


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FusionGeneSequence for NBN_SLC26A7


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000523719_chr8_92406025_+_122aa
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000276609_chr8_92406025_+_122aa
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000309536_chr8_92406025_+_129aa
MWKLLPAAGPAGGEPYRLLTGVEYVVGRKNCAILIENDQSISRNHAVLTANFSVTNLVYMDCKGRSVDVLLAHCTASLIKAMTYYGNLDS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000523719_chr8_92406025_+_366nt
ATGTGGAAACTGCTGCCCGCCGCGGGCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAAC
TGTGCCATTCTGATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATG
GACTGTAAAGGCAGGAGTGTGGATGTATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCA
GAGAAACCAATTTTTTTTGAATCGGTATCTGCTGCAATAAGTCATATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAA

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000276609_chr8_92406025_+_366nt
ATGTGGAAACTGCTGCCCGCCGCGGGCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAAC
TGTGCCATTCTGATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATG
GACTGTAAAGGCAGGAGTGTGGATGTATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCA
GAGAAACCAATTTTTTTTGAATCGGTATCTGCTGCAATAAGTCATATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAA

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000309536_chr8_92406025_+_387nt
ATGTGGAAACTGCTGCCCGCCGCGGGCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAAC
TGTGCCATTCTGATTGAAAATGATCAGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATG
GACTGTAAAGGCAGGAGTGTGGATGTATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCA
GAGAAACCAATTTTTTTTGAATCGGTATCTGCTGCAATAAGTCATATCCATTCAAATAAGGCCAGTTATAAACTGTTGTTTGATAACTTG


* Fusion transcript sequences (Full-length transcript).
>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000523719_chr8_92406025_+_1180nt
AAGTCGCACTCCCGCCTCATCCAAGGCAGCCTGCGTGGCTCCCGGGAGCGCGCACGTCCCGGAGCCCATGCCGACCGCAGGCGCCGTATC
CGCGCTCGTCTAGCAGCCCCGGTTACGCGGTTGCACGTCGGCCCCAGCCCTGAGGAGCCGGACCGATGTGGAAACTGCTGCCCGCCGCGG
GCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAACTGTGCCATTCTGATTGAAAATGATC
AGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATGGACTGTAAAGGCAGGAGTGTGGATG
TATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCAGAGAAACCAATTTTTTTTGAATCGG
TATCTGCTGCAATAAGTCATATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAAGTCTGAGACCCTTTTGTCACAGTAC
AGCTCTTGTCTTTACCAACTGCCTGAAGAGGCCATATGCTGGCATTTTGCACAACTTTTTGGTTGTTTAGATCCTACAGATGACCTCTGC
TACAATAAGTACGATGTGACTTAGTAACTGCATAGCAGTTGGAAAGAACTGCCAACTTTTTTTTCTCATTTTTGTTAGTAAGAAGATTCG
CTTAGTTATTTTATGTAAAAATCAGTATGTGTTTAGTTTTAGTGTACTGAAGGGTAAACATGGTTTTATTTTATTTTACCATATTATTTT
GTGTTGTTTTATTTCTATTGTGCTGTAAGTTGATGTTTAAAATTGAGAAATACTTTTGTCATAGGTAATTTGGAACATTTACAAGCCATT
TGTAAAATTTTAAGATAATCTGTAACTAATACATAAAAACAACTTAGCAAATGTGCCATTTTCACACAACTTCTCTCTGTATAGGCCTCT
GAAATATCAATAAGGCTAAATATTACTTTACACAGTAAGATGTGAAATTCACAAAAAGTAAACCAAACAAAACGAATGAAAAACTGGAAA
TAATTCGTTTCCATATCTTTCCATACATCCATTTCTGAAGTATTCAGGAATGTTTTCATAATCGAAAGAAACGGGTATCCAAATAAAACC

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000276609_chr8_92406025_+_3574nt
AAGTCGCACTCCCGCCTCATCCAAGGCAGCCTGCGTGGCTCCCGGGAGCGCGCACGTCCCGGAGCCCATGCCGACCGCAGGCGCCGTATC
CGCGCTCGTCTAGCAGCCCCGGTTACGCGGTTGCACGTCGGCCCCAGCCCTGAGGAGCCGGACCGATGTGGAAACTGCTGCCCGCCGCGG
GCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAACTGTGCCATTCTGATTGAAAATGATC
AGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATGGACTGTAAAGGCAGGAGTGTGGATG
TATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCAGAGAAACCAATTTTTTTTGAATCGG
TATCTGCTGCAATAAGTCATATCCATTCAAATAAGAATTTGAGCAAACTCAGTGACCACAGTGAAGTCTGAGACCCTTTTGTCACAGTAC
AGCTCTTGTCTTTACCAACTGCCTGAAGAGGCCATATGCTGGCATTTTGCACAACTTTTTGGTTGTTTAGATCCTACAGATGACCTCTGC
TACAATAAGTACGATGTGACTTAGTAACTGCATAGCAGTTGGAAAGAACTGCCAACTTTTTTTTCTCATTTTTGTTAGTAAGAAGATTCG
CTTAGTTATTTTATGTAAAAATCAGTATGTGTTTAGTTTTAGTGTACTGAAGGGTAAACATGGTTTTATTTTATTTTACCATATTATTTT
GTGTTGTTTTATTTCTATTGTGCTGTAAGTTGATGTTTAAAATTGAGAAATACTTTTGTCATAGGTAATTTGGAACATTTACAAGCCATT
TGTAAAATTTTAAGATAATCTGTAACTAATACATAAAAACAACTTAGCAAATGTGCCATTTTCACACAACTTCTCTCTGTATAGGCCTCT
GAAATATCAATAAGGCTAAATATTACTTTACACAGTAAGATGTGAAATTCACAAAAAGTAAACCAAACAAAACGAATGAAAAACTGGAAA
TAATTCGTTTCCATATCTTTCCATACATCCATTTCTGAAGTATTCAGGAATGTTTTCATAATCGAAAGAAACGGGTATCCAAATAAAACC
AAGTTCTTGACATTGGTCTGTTTTGCTGTGAATATTGGAAATGCTTAGGATCTTCAGACCCAATAGCTCTAATTTTAACATTTCTACCCA
ATAAGAGGCTCTGTTTTCCACTGAAGCTTTGTTGGAGAAAGAGAATATGAAAATTACACATTTTATAATTTTTAGATGAGAAAATACCAC
TAGCAGAATAGCTTTGTGCTATTCCAGTATAAGATGAACTGTAATAATTTTTGACTTCCCTATTTCAGAGATAGTCAATATAATATGTTT
ATCTATATCCATATGGATGGATAGGTAGGTAGATCTTCATAGATTTTTTTTTCTTTTGTTAGAGGAGAGCTTGATGTGATTATCTTCAAA
CCCACCAAACCAACAGGATAATTGACAAATAAACGCCATAGGCTAGGCTGAACTGTATGTTACTGTTTTCATGCTTATACATATATTTTC
AATCACATACAAGTACATAGAATTTCACATTTTAATTTAGCAAATTGATTTACCTAGGAAAAAATTATCACCTTCAAAGATAGGCATAGA
CACATAATTATGCTTAAGCTTTTAACAGCATTTTAACCGCTCTAAAAATTACCAGAGTAAGAAAAAGCTAGGTACTTTAAAGTGAGTTTG
AGAAACAAGTTGAAACTAAAATTAAAATACCAGCCATTTAGGTGCTTTCTCTGGCATCTATAAAAGTAAATTCTAGTGCCTGCCAAGTGA
TGGATTATAATGGTCTCTAGCAAATGTGTGGTAAACATTCATATGGCCATTAATTTTAACATTAAATCGTAGGTAGGGCAATGTAGTAAA
ATGAAAGAGAATTAAGAAAGGTTTTGAATTCTTATAACATATCCAGCCATTTCAATTTTGATTGAAATGAACTACAAAGAATAGTGTTTG
TCCCTATGGTAGCCTCAGTCTCTTTATCACTAACTTGGATTGAAATGAGTGAGGCCAACTCACATTCCCATCAAACACTCTTCCAAGGAA
AAGCAGAAGTAATAATTGGAGGTAAAGTTTCCTTAGAGAAAATAATTTTATTCTGCTTTGTCCAATTAAATTATTCCAATGGCGGATGGT
AATATTCACCATCTCTAATTCATTGGTCACTGGTAGGTAAGCATGAGTTAAGGAAAGTCAAAAATGAAAATATATTTTGCTGTGTATAAA
TTGATATTTTGCTATGCAACTCCTGTAATTGAATTTGTATAATGCAGGCACTTTCTAATTTATTAGAGATTATGGATCAGTTCTGACATT
AAAATCATAGTTAATTGATGGATGGTTTTTATAGTTTGTTGATAAAGTGGACACAGTATTGTCTGAGCAGTTATATTTTAATGCATTTCA
GTGTTTATAGTAGAAGTTTAGTGGATAAAACTTTAAGTCCAATAACTTGGGGGTCAAATGCTAATGTTTTATTCAATGTAAAGGAAGACC
AAACCATGTACCTTATGAAGACCTTTGTTTTAAGACTTCCACACACCAAGGCTACAATGACTGTTAACCTGGAGGAAGTCTCTGGTATGG
AGTTCTGAGAGCTTAAGAGCTAAACATGAGTTTAGACACACAAGATTCTAAAATGCAAATGTTTATTTTGAAGCAGGCATTGACAACACA
AAAACTGTGTAGTGGTCTTGATGCTGGATTGTTTCTAGAGTCACAATGAATTATTTTTATGAGATTACCTTATTTTTATATATGACAAAC
TACTTCTATAATGCTTATTATGGTAAAATAAAATTGGAAAAAATTAAAACTGACCTATAAGAGTGTTAAGGACCTAATAGAGTGACATAT
ATAAATTAAGCATAAAATATGTAACCAGGAAAAGACTGTTAACATTACATTTATGCAAATTAAATGCCCTTAAATTTCACCATTTGTCTT
TCATTTTAAAGGTTATTTGCTCCCGATTATATGATTCAAGTGTTATAAGTTTTAGCTTGAACTACTTTGCAGTAATTTATTTGACAGATC
TCTATTCTATAAATGTGTAATGTGATGAAGAAAGAGATCTTTCTTTTTTAATGAAAACATTAATGTGTTAATACCCTGTATGGATAATGC
TTGACATTTAGTGGTTTCCAAAATATATTAGTATATTGTTGAACATACATTATGCCTTAGAAATGCACATTCTGTATTTTGTGGGATGAT
AATCTAATTCAGTATAGAATATGCTGTTTGGCAATGAGTTTGTGGCCAGATTTCAAATAGGGAGTTAAGTGGTACTTTCACAATCCAAAG
ATTTTTAGTTAAAAATCATGTAGTCTAATATGCTGCAGTTATTTTTTTATATTTTTCAATGCATTTAATTATCTTTTTTATAATTCTTTG

>In-frame_NBN_ENST00000265433_chr8_90994950_-_SLC26A7_ENST00000309536_chr8_92406025_+_986nt
AAGTCGCACTCCCGCCTCATCCAAGGCAGCCTGCGTGGCTCCCGGGAGCGCGCACGTCCCGGAGCCCATGCCGACCGCAGGCGCCGTATC
CGCGCTCGTCTAGCAGCCCCGGTTACGCGGTTGCACGTCGGCCCCAGCCCTGAGGAGCCGGACCGATGTGGAAACTGCTGCCCGCCGCGG
GCCCGGCAGGAGGAGAACCATACAGACTTTTGACTGGCGTTGAGTACGTTGTTGGAAGGAAAAACTGTGCCATTCTGATTGAAAATGATC
AGTCGATCAGCCGAAATCATGCTGTGTTAACTGCTAACTTTTCTGTAACCAACCTGGTTTACATGGACTGTAAAGGCAGGAGTGTGGATG
TATTGTTAGCCCATTGTACAGCTTCCTTGATAAAAGCAATGACGTATTATGGAAACCTAGACTCAGAGAAACCAATTTTTTTTGAATCGG
TATCTGCTGCAATAAGTCATATCCATTCAAATAAGGCCAGTTATAAACTGTTGTTTGATAACTTGGATCTTCCAACAATGCCACCGCTCT
GAGGATTGGGTGGTTGCCTATCATTTGCAAACTGCTTACTTGTACAACAAATGCTTCTTCCAGGATCTACTGTCCTGGGGACTTGAATCC
ACCTTTCTCAAATATAAAAACTCTAAATATGGCCTTTTAAGTTTTTTCTGCTCTGATATCTTGCCTCTAAGCTTATATTGCCATCTTTGG
AAATACTATTTGTAGAATCTAGTGCTCACATGATCTGAAGTGTCAAAGTTATTTTACAAATGCTGGGCTTATGGTTTAGTTTTACAACTG
TTCTTAGAGCTTTAATTTCCTGCAATTTTTCCTTGAGTTTTGAATTGTTTTGCCTTTCCTCACCCCTAGAATAACATTTGGTGCCTCGCA


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FusionGenePPI for NBN_SLC26A7


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
NBNBLM, MRE11A, BRCA1, RAD50, H2AFX, FANCD2, ATM, ATR, MLH1, MSH2, MSH6, RFC1, MDC1, TERF1, XRCC4, TERF2, RECQL5, MCPH1, DDX1, ATF2, WRN, PAXIP1, SIRT1, HIST1H3A, TOPBP1, KAT5, EP300, TUBG1, RAD18, BARD1, BACH1, UBE2A, UBE2B, CD3EAP, PRKDC, XRCC5, ATRIP, LIG3, HSPA4, IPO5, SKP2, CCNE1, MDM2, DCLRE1C, RBBP8, TLK1, TERF2IP, NCL, RNF8, UBE2D1, UBE2N, CBX8, RPA3, RPA2, RPA1, ATRX, MTOR, RICTOR, MAPKAP1, SUMO2, CELA2B, FAM219A, MDM4, PHRF1, BAP1, CASC3, NAT2, SNAI1, MED4, OFD1, HIST1H3E, BMI1, SLX4, VRK1, SNW1, CDC5L, DPPA4, NANOG, POU5F1, HIST3H3, EYA2, BMP1, RGS20, LZTS2, BRIP1, CHEK1, HDAC6, PARK2, MCM9SLC26A7


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNBNchr8:90994950chr8:92406025ENST00000265433-216221_40257755MTOR%2C MAPKAP1 and RICTOR
HgeneNBNchr8:90994950chr8:92406025ENST00000409330-216221_402-25673MTOR%2C MAPKAP1 and RICTOR


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NBN_SLC26A7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NBN_SLC26A7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNBNC0398791Nijmegen Breakage Syndrome3CTD_human;ORPHANET
HgeneNBNC0033578Prostatic Neoplasms2CTD_human
HgeneNBNC0006142Malignant neoplasm of breast1UNIPROT
HgeneNBNC0027643Neoplasm Recurrence, Local1CTD_human
HgeneNBNC0038362Stomatitis1CTD_human
TgeneSLC26A7C0036341Schizophrenia1CTD_human