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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: 6783

FusionGeneSummary for CENPV_ATXN7

check button Fusion gene summary
Fusion gene informationFusion gene name: CENPV_ATXN7
Fusion gene ID: 6783
HgeneTgene
Gene symbol

CENPV

ATXN7

Gene ID

201161

6314

Gene namecentromere protein Vataxin 7
Synonyms3110013H01Rik|CENP-V|PRR6|p30ADCAII|OPCA3|SCA7
Cytomap

17p11.2

3p14.1

Type of geneprotein-codingprotein-coding
Descriptioncentromere protein Vnuclear protein p30proline rich 6proline-rich protein 6ataxin-7spinocerebellar ataxia type 7 protein
Modification date2018051920180527
UniProtAcc

Q7Z7K6

O15265

Ensembl transtripts involved in fusion geneENST00000476243, ENST00000299736, 
ENST00000398590, ENST00000295900, 
ENST00000487717, ENST00000538065, 
ENST00000484332, ENST00000488239, 
Fusion gene scores* DoF score3 X 3 X 2=185 X 5 X 2=50
# samples 45
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/50*10)=0
Context

PubMed: CENPV [Title/Abstract] AND ATXN7 [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
HgeneCENPV

GO:0001667

ameboidal-type cell migration

19930468

TgeneATXN7

GO:0016578

histone deubiquitination

18206972


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
ChiTaRS3.1BF511861CENPVchr17

16250923

-ATXN7chr3

63973778

-
ChiTaRS3.1BG150438CENPVchr17

16250923

-ATXN7chr3

63973778

-
* 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-3CDSENST00000476243ENST00000398590CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000476243ENST00000295900CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000476243ENST00000487717CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000476243ENST00000538065CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000476243ENST00000484332CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-intronENST00000476243ENST00000488239CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000299736ENST00000398590CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000299736ENST00000295900CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000299736ENST00000487717CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000299736ENST00000538065CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-3CDSENST00000299736ENST00000484332CENPVchr17

16250923

-ATXN7chr3

63973778

-
intron-intronENST00000299736ENST00000488239CENPVchr17

16250923

-ATXN7chr3

63973778

-

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FusionProtFeatures for CENPV_ATXN7


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

Q7Z7K6

ATXN7

O15265

Required for distribution of pericentromericheterochromatin in interphase nuclei and for centromere formationand organization, chromosome alignment and cytokinesis.{ECO:0000269|PubMed:18772885}. Acts as component of the STAGA transcriptioncoactivator-HAT complex. Mediates the interaction of STAGA complexwith the CRX and is involved in CRX-dependent gene activation.Necessary for microtubule cytoskeleton stabilization.{ECO:0000269|PubMed:22100762}.

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 CENPV_ATXN7


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 CENPV_ATXN7


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 CENPV_ATXN7


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 CENPV_ATXN7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneATXN7C0026650Movement Disorders1CTD_human
TgeneATXN7C0034933Reflex, Abnormal1CTD_human
TgeneATXN7C0037274Dermatologic disorders1CTD_human
TgeneATXN7C0042790Vision Disorders1CTD_human
TgeneATXN7C0087012Ataxia, Spinocerebellar1CTD_human
TgeneATXN7C0311375Arsenic Poisoning1CTD_human
TgeneATXN7C0751837Gait Ataxia1CTD_human