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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ANK2-ACO2 (FusionGDB2 ID:4457)

Fusion Gene Summary for ANK2-ACO2

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK2-ACO2
Fusion gene ID: 4457
HgeneTgene
Gene symbol

ANK2

ACO2

Gene ID

287

50

Gene nameankyrin 2aconitase 2
SynonymsANK-2|CFAP87|FAP87|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 date2020031320200313
UniProtAcc

Q01484

Q99798

Ensembl transtripts involved in fusion geneENST00000506722, ENST00000394537, 
ENST00000357077, ENST00000264366, 
ENST00000509550, ENST00000510275, 
ENST00000504887, 		ENST00000216254, 
ENST00000396512, ENST00000466237, 
Fusion gene scores* DoF score11 X 12 X 4=52813 X 16 X 8=1664
# samples 1518
** MAII scorelog2(15/528*10)=-1.81557542886257
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1664*10)=-3.20858662181142
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]

Most frequent breakpointANK2(114038344)-ACO2(41911472), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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 buttonFusion gene breakpoints across ANK2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ACO2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABI596363ANK2chr4

114038344

+ACO2chr22

41911472

+


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Fusion Gene ORF analysis for ANK2-ACO2

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

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ANK2-ACO2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for ANK2-ACO2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q01484

ACO2

Q99798

FUNCTION: Plays an essential role in the localization and membrane stabilization of ion transporters and ion channels in several cell types, including cardiomyocytes, as well as in striated muscle cells. In skeletal muscle, required for proper localization of DMD and DCTN4 and for the formation and/or stability of a special subset of microtubules associated with costameres and neuromuscular junctions. In cardiomyocytes, required for coordinate assembly of Na/Ca exchanger, SLC8A1/NCX1, Na/K ATPases ATP1A1 and ATP1A2 and inositol 1,4,5-trisphosphate (InsP3) receptors at sarcoplasmic reticulum/sarcolemma sites. Required for expression and targeting of SPTBN1 in neonatal cardiomyocytes and for the regulation of neonatal cardiomyocyte contraction rate (PubMed:12571597). In the inner segment of rod photoreceptors, required for the coordinated expression of the Na/K ATPase, Na/Ca exchanger and beta-2-spectrin (SPTBN1) (By similarity). Plays a role in endocytosis and intracellular protein transport. Associates with phosphatidylinositol 3-phosphate (PI3P)-positive organelles and binds dynactin to promote long-range motility of cells. Recruits RABGAP1L to (PI3P)-positive early endosomes, where RABGAP1L inactivates RAB22A, and promotes polarized trafficking to the leading edge of the migrating cells. Part of the ANK2/RABGAP1L complex which is required for the polarized recycling of fibronectin receptor ITGA5 ITGB1 to the plasma membrane that enables continuous directional cell migration (By similarity). {ECO:0000250|UniProtKB:Q8C8R3, ECO:0000269|PubMed:12571597}.FUNCTION: Catalyzes the isomerization of citrate to isocitrate via cis-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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Fusion Gene Sequence for ANK2-ACO2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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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Related Drugs for ANK2-ACO2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ANK2-ACO2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK2C1970119CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED5CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneANK2C1142166Brugada Syndrome (disorder)4CLINGEN
HgeneANK2C0035828Romano-Ward Syndrome3ORPHANET
HgeneANK2C0038454Cerebrovascular accident1CTD_human
HgeneANK2C0751956Acute Cerebrovascular Accidents1CTD_human
HgeneANK2C1535926Neurodevelopmental Disorders1CTD_human
TgeneACO2C3281192INFANTILE CEREBELLAR-RETINAL DEGENERATION2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneACO2C4225384OPTIC ATROPHY 92CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACO2C0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneACO2C2239176Liver carcinoma1CTD_human