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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: 3605

FusionGeneSummary for ATXN7_CP

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN7_CP
Fusion gene ID: 3605
HgeneTgene
Gene symbol

ATXN7

CP

Gene ID

6314

1356

Gene nameataxin 7ceruloplasmin
SynonymsADCAII|OPCA3|SCA7CP-2
Cytomap

3p14.1

3q24-q25.1

Type of geneprotein-codingprotein-coding
Descriptionataxin-7spinocerebellar ataxia type 7 proteinceruloplasminceruloplasmin (ferroxidase)
Modification date2018052720180523
UniProtAcc

O15265

P00450

Ensembl transtripts involved in fusion geneENST00000398590, ENST00000295900, 
ENST00000487717, ENST00000538065, 
ENST00000484332, ENST00000488239, 
ENST00000264613, ENST00000462336, 
Fusion gene scores* DoF score5 X 5 X 4=1001 X 1 X 1=1
# samples 61
** MAII scorelog2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: ATXN7 [Title/Abstract] AND CP [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
HgeneATXN7

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
ChiTaRS3.1BG945303ATXN7chr3

63950706

-CPchr3

148911232

+
* 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-intronENST00000398590ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000398590ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000295900ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000295900ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000487717ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000487717ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000538065ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000538065ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000484332ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000484332ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000488239ENST00000264613ATXN7chr3

63950706

-CPchr3

148911232

+
intron-intronENST00000488239ENST00000462336ATXN7chr3

63950706

-CPchr3

148911232

+

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FusionProtFeatures for ATXN7_CP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATXN7

O15265

CP

P00450

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}. Ceruloplasmin is a blue, copper-binding (6-7 atoms permolecule) glycoprotein. It has ferroxidase activity oxidizingFe(2+) to Fe(3+) without releasing radical oxygen species. It isinvolved in iron transport across the cell membrane. ProvidesCu(2+) ions for the ascorbate-mediated deaminase degradation ofthe heparan sulfate chains of GPC1. May also play a role in fetallung development or pulmonary antioxidant defense (By similarity).{ECO:0000250}.

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 ATXN7_CP


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 ATXN7_CP


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 ATXN7_CP


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCPP00450DB01592IronCeruloplasminsmall moleculeapproved
TgeneCPP00450DB01593ZincCeruloplasminsmall moleculeapproved|investigational
TgeneCPP00450DB00055Drotrecogin alfaCeruloplasminbiotechapproved|investigational|withdrawn
TgeneCPP00450DB01373CalciumCeruloplasminsmall moleculeapproved|nutraceutical

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RelatedDiseases for ATXN7_CP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN7C0026650Movement Disorders1CTD_human
HgeneATXN7C0034933Reflex, Abnormal1CTD_human
HgeneATXN7C0037274Dermatologic disorders1CTD_human
HgeneATXN7C0042790Vision Disorders1CTD_human
HgeneATXN7C0087012Ataxia, Spinocerebellar1CTD_human
HgeneATXN7C0311375Arsenic Poisoning1CTD_human
HgeneATXN7C0751837Gait Ataxia1CTD_human
TgeneCPC0019202Hepatolenticular Degeneration3CTD_human
TgeneCPC2931082Familial apoceruloplasmin deficiency3CTD_human;ORPHANET
TgeneCPC0022116Ischemia2CTD_human
TgeneCPC0023890Liver Cirrhosis2CTD_human
TgeneCPC0030567Parkinson Disease2CTD_human
TgeneCPC0001925Albuminuria1CTD_human
TgeneCPC0003873Rheumatoid Arthritis1CTD_human
TgeneCPC0004134Ataxia1CTD_human
TgeneCPC0004352Autistic Disorder1CTD_human
TgeneCPC0006111Brain Diseases1CTD_human
TgeneCPC0009375Colonic Neoplasms1CTD_human
TgeneCPC0011849Diabetes Mellitus1CTD_human;HPO
TgeneCPC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneCPC0012715Iron Metabolism Disorders1CTD_human
TgeneCPC0013384Dyskinetic syndrome1CTD_human
TgeneCPC0018995Hemochromatosis1CTD_human
TgeneCPC0019189Hepatitis, Chronic1CTD_human
TgeneCPC0022716Menkes Kinky Hair Syndrome1CTD_human
TgeneCPC0023904Liver Neoplasms, Experimental1CTD_human
TgeneCPC0025202melanoma1CTD_human
TgeneCPC0027746Nerve Degeneration1CTD_human
TgeneCPC0032914Pre-Eclampsia1CTD_human
TgeneCPC0033860Psoriasis1CTD_human
TgeneCPC0035304Retinal Degeneration1CTD_human;HPO
TgeneCPC0036341Schizophrenia1CTD_human
TgeneCPC0085397Pasteurellaceae Infections1CTD_human
TgeneCPC0282193Iron Overload1CTD_human
TgeneCPC0497327Dementia1CTD_human;HPO
TgeneCPC0993582Arthritis, Experimental1CTD_human
TgeneCPC2239176Liver carcinoma1CTD_human
TgeneCPC4277682Chemical and Drug Induced Liver Injury1CTD_human