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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4271

FusionGeneSummary for BNC2_ATP7A

check button Fusion gene summary
Fusion gene informationFusion gene name: BNC2_ATP7A
Fusion gene ID: 4271
HgeneTgene
Gene symbol

BNC2

ATP7A

Gene ID

54796

538

Gene namebasonuclin 2ATPase copper transporting alpha
SynonymsBSN2DSMAX|MK|MNK|SMAX3
Cytomap

9p22.3-p22.2

Xq21.1

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein basonuclin-2copper-transporting ATPase 1ATPase, Cu++ transporting, alpha polypeptideCu++-transporting P-type ATPaseMenkes disease-associated proteincopper pump 1
Modification date2018051920180523
UniProtAcc

Q6ZN30

Q04656

Ensembl transtripts involved in fusion geneENST00000380672, ENST00000380667, 
ENST00000545497, ENST00000380666, 
ENST00000471301, 
ENST00000350425, 
ENST00000343533, ENST00000341514, 
Fusion gene scores* DoF score4 X 4 X 2=322 X 2 X 2=8
# samples 52
** MAII scorelog2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: BNC2 [Title/Abstract] AND ATP7A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneATP7A

GO:0051353

positive regulation of oxidoreductase activity

11092760


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
ChiTaRS3.1X69208BNC2chr9

16634399

+ATP7AchrX

77166199

+
* 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
intron-3CDSENST00000380672ENST00000350425BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380672ENST00000343533BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380672ENST00000341514BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380667ENST00000350425BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380667ENST00000343533BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380667ENST00000341514BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000545497ENST00000350425BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000545497ENST00000343533BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000545497ENST00000341514BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380666ENST00000350425BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380666ENST00000343533BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000380666ENST00000341514BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000471301ENST00000350425BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000471301ENST00000343533BNC2chr9

16634399

+ATP7AchrX

77166199

+
intron-3CDSENST00000471301ENST00000341514BNC2chr9

16634399

+ATP7AchrX

77166199

+

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FusionProtFeatures for BNC2_ATP7A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BNC2

Q6ZN30

ATP7A

Q04656

Probable transcription factor specific for skinkeratinocytes. May play a role in the differentiation ofspermatozoa and oocytes. May supply copper to copper-requiring proteins withinthe secretory pathway, when localized in the trans-Golgi network.Under conditions of elevated extracellular copper, it relocalizedto the plasma membrane where it functions in the efflux of copperfrom cells.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for BNC2_ATP7A


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for BNC2_ATP7A


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


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


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


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RelatedDrugs for BNC2_ATP7A


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 BNC2_ATP7A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBNC2C0008925Cleft Palate1CTD_human
HgeneBNC2C0376634Craniofacial Abnormalities1CTD_human
HgeneBNC2C0919267ovarian neoplasm1CTD_human
TgeneATP7AC0022716Menkes Kinky Hair Syndrome35CTD_human;ORPHANET;UNIPROT
TgeneATP7AC0268353Cutis laxa, x-linked3CTD_human;ORPHANET;UNIPROT
TgeneATP7AC0003496Aortic Rupture2CTD_human
TgeneATP7AC0027854Neurologic Manifestations2CTD_human
TgeneATP7AC0002871Anemia1CTD_human
TgeneATP7AC0004134Ataxia1CTD_human
TgeneATP7AC0009375Colonic Neoplasms1CTD_human
TgeneATP7AC0018273Growth Disorders1CTD_human
TgeneATP7AC0019054Hemolysis (disorder)1CTD_human
TgeneATP7AC0019189Hepatitis, Chronic1CTD_human
TgeneATP7AC0020542Pulmonary Hypertension1CTD_human
TgeneATP7AC0023904Liver Neoplasms, Experimental1CTD_human
TgeneATP7AC0036572Seizures1CTD_human;HPO
TgeneATP7AC0040822Tremor1CTD_human
TgeneATP7AC0522224Paralysed1CTD_human
TgeneATP7AC1845359Spinal Muscular Atrophy, Distal, X-Linked 31CTD_human;ORPHANET;UNIPROT
TgeneATP7AC2936380Neointima1CTD_human