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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: 1671

FusionGeneSummary for ANK2_ANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: ANK2_ANK2
Fusion gene ID: 1671
HgeneTgene
Gene symbol

ANK2

ANK2

Gene ID

287

287

Gene nameankyrin 2ankyrin 2
SynonymsANK-2|LQT4|brank-2ANK-2|LQT4|brank-2
Cytomap

4q25-q26

4q25-q26

Type of geneprotein-codingprotein-coding
Descriptionankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrinankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin
Modification date2018052320180523
UniProtAcc

Q01484

Q01484

Ensembl transtripts involved in fusion geneENST00000506722, ENST00000394537, 
ENST00000357077, ENST00000264366, 
ENST00000509550, ENST00000510275, 
ENST00000504887, 
ENST00000506722, 
ENST00000394537, ENST00000357077, 
ENST00000264366, ENST00000509550, 
ENST00000510275, ENST00000504887, 
Fusion gene scores* DoF score8 X 9 X 4=2886 X 8 X 3=144
# samples 119
** MAII scorelog2(11/288*10)=-1.38856528791765
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/144*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ANK2 [Title/Abstract] AND ANK2 [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

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
ChiTaRS3.1AA782337ANK2chr4

114273906

+ANK2chr4

114276867

-
ChiTaRS3.1AI758236ANK2chr4

114274810

-ANK2chr4

114275372

-
ChiTaRS3.1AI470543ANK2chr4

114274810

-ANK2chr4

114275372

-
* 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-intronENST00000506722ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000394537ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000357077ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000264366ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000509550ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000510275ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000506722ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000394537ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000357077ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000264366ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000509550ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000510275ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000504887ENST00000504887ANK2chr4

114273906

+ANK2chr4

114276867

-
intron-intronENST00000506722ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000506722ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000394537ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000357077ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
5CDS-intronENST00000264366ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000509550ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000510275ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000506722ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000394537ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000357077ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000264366ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000509550ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000510275ANK2chr4

114274810

-ANK2chr4

114275372

-
intron-intronENST00000504887ENST00000504887ANK2chr4

114274810

-ANK2chr4

114275372

-

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FusionProtFeatures for ANK2_ANK2


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

Q01484

ANK2

Q01484

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}. 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}.

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_ANK2


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_ANK2


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_ANK2


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_ANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneANK2C1970119CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED1CTD_human;UNIPROT
TgeneANK2C1970119CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED1CTD_human;UNIPROT