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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: 1669

FusionGeneSummary for ANK2_ACO2

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK2_ACO2
Fusion gene ID: 1669
HgeneTgene
Gene symbol

ANK2

ACO2

Gene ID

287

50

Gene nameankyrin 2aconitase 2
SynonymsANK-2|LQT4|brank-2ACONM|HEL-S-284|ICRD|OCA8|OPA9
Cytomap

4q25-q26

22q13.2

Type of geneprotein-codingprotein-coding
Descriptionankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrinaconitate hydratase, mitochondrialaconitase 2, mitochondrialcitrate hydro-lyaseepididymis secretory sperm binding protein Li 284mitochondrial aconitase
Modification date2018052320180523
UniProtAcc

Q01484

Q99798

Ensembl transtripts involved in fusion geneENST00000506722, ENST00000394537, 
ENST00000357077, ENST00000264366, 
ENST00000509550, ENST00000510275, 
ENST00000504887, 		ENST00000216254, 
ENST00000396512, ENST00000466237, 
Fusion gene scores* DoF score8 X 9 X 4=28811 X 9 X 6=594
# samples 1112
** MAII scorelog2(11/288*10)=-1.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANK2 [Title/Abstract] AND ACO2 [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
TgeneACO2

GO:0006099

tricarboxylic acid cycle

9630632

TgeneACO2

GO:0006101

citrate metabolic process

9630632


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
ChiTaRS3.1BI596363ANK2chr4

114038344

+ACO2chr22

41911472

+
* 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-3CDSENST00000506722ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000506722ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000506722ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000394537ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000394537ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000394537ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000357077ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000357077ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000357077ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000264366ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000264366ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000264366ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000509550ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000509550ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000509550ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000510275ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000510275ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000510275ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000504887ENST00000216254ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-3CDSENST00000504887ENST00000396512ANK2chr4

114038344

+ACO2chr22

41911472

+
intron-intronENST00000504887ENST00000466237ANK2chr4

114038344

+ACO2chr22

41911472

+

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FusionProtFeatures for ANK2_ACO2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ANK2

Q01484

ACO2

Q99798

In skeletal muscle, required for proper localization ofDMD and DCTN4 and for the formation and/or stability of a specialsubset of microtubules associated with costameres andneuromuscular junctions. Attaches integral membrane proteins tocytoskeletal elements. Also binds to cytoskeletal proteins.Required for coordinate assembly of Na/Ca exchanger, Na/K ATPaseand InsP3 receptor at sarcoplasmic reticulum sites incardiomyocytes. Required for the coordinated expression of theNa/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) in theinner segment of rod photoreceptors (By similarity). Required forexpression and targeting of SPTBN1 in neonatal cardiomyocytes andfor the regulation of neonatal cardiomyocyte contraction rate(PubMed:12571597). Plays a role in endocytosis and intracellularprotein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promotelong-range motility of cells. Recruits RABGAP1L to (PI3P)-positiveearly endosomes, where RABGAP1L inactivates RAB22A, and promotespolarized trafficking to the leading edge of the migrating cells.Part of the ANK2/RABGAP1L complex which is required for thepolarized recycling of fibronectin receptor ITGA5 ITGB1 to theplasma membrane that enables continuous directional cell migration(By similarity). {ECO:0000250|UniProtKB:Q8C8R3,ECO:0000269|PubMed:12571597}. Catalyzes the isomerization of citrate to isocitrate viacis-aconitate. {ECO:0000250|UniProtKB:P16276}.

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 ANK2_ACO2


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 ANK2_ACO2


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 ANK2_ACO2


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 ANK2_ACO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK2C1970119CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED1CTD_human;UNIPROT
TgeneACO2C3281192INFANTILE CEREBELLAR-RETINAL DEGENERATION2ORPHANET;UNIPROT
TgeneACO2C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneACO2C2239176Liver carcinoma1CTD_human
TgeneACO2C4225384OPTIC ATROPHY 91UNIPROT