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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: 2101

FusionGeneSummary for AP3S2_ANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3S2_ANK2
Fusion gene ID: 2101
HgeneTgene
Gene symbol

AP3S2

ANK2

Gene ID

10239

287

Gene nameadaptor related protein complex 3 subunit sigma 2ankyrin 2
SynonymsAP3S3|sigma3bANK-2|LQT4|brank-2
Cytomap

15q26.1

4q25-q26

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit sigma-2AP-3 complex subunit sigma-3Badapter-related protein complex 3 subunit sigma-2adaptor complex sigma3Badaptor related protein complex 3 sigma 2 subunitclathrin-associated/assembly/adaptor protein, small 4, 22-kDsigma-3B-adankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin
Modification date2018051920180523
UniProtAcc

P59780

Q01484

Ensembl transtripts involved in fusion geneENST00000336418, ENST00000558011, 
ENST00000560940, ENST00000560771, 
ENST00000506722, ENST00000394537, 
ENST00000357077, ENST00000264366, 
ENST00000509550, ENST00000510275, 
ENST00000504887, 
Fusion gene scores* DoF score3 X 3 X 2=186 X 8 X 3=144
# samples 39
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: AP3S2 [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
ChiTaRS3.1T57754AP3S2chr15

90415631

+ANK2chr4

113976583

-
* 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-intronENST00000336418ENST00000506722AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000394537AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000357077AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000264366AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000509550AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000510275AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000336418ENST00000504887AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000506722AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000394537AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000357077AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000264366AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000509550AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000510275AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000558011ENST00000504887AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000506722AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000394537AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000357077AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000264366AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000509550AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000510275AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560940ENST00000504887AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000506722AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000394537AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000357077AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000264366AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000509550AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000510275AP3S2chr15

90415631

+ANK2chr4

113976583

-
intron-intronENST00000560771ENST00000504887AP3S2chr15

90415631

+ANK2chr4

113976583

-

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FusionProtFeatures for AP3S2_ANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP3S2

P59780

ANK2

Q01484

Part of the AP-3 complex, an adaptor-related complexwhich is not clathrin-associated. The complex is associated withthe Golgi region as well as more peripheral structures. Itfacilitates the budding of vesicles from the Golgi membrane andmay be directly involved in trafficking to lysosomes. In concertwith the BLOC-1 complex, AP-3 is required to target cargos intovesicles assembled at cell bodies for delivery into neurites andnerve terminals. 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 AP3S2_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 AP3S2_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 AP3S2_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 AP3S2_ANK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3S2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneANK2C1970119CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED1CTD_human;UNIPROT