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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: 26211

FusionGeneSummary for PCF11_ANK2

check button Fusion gene summary
Fusion gene informationFusion gene name: PCF11_ANK2
Fusion gene ID: 26211
HgeneTgene
Gene symbol

PCF11

ANK2

Gene ID

51585

287

Gene namePCF11, cleavage and polyadenylation factor subunitankyrin 2
Synonyms-ANK-2|LQT4|brank-2
Cytomap

11q14.1

4q25-q26

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA cleavage complex 2 protein Pcf11PCF11, cleavage and polyadenylation factor subunit, homologPCF11p homologpre-mRNA cleavage complex II protein Pcf11ankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin
Modification date2018052320180523
UniProtAcc

O94913

Q01484

Ensembl transtripts involved in fusion geneENST00000298281, ENST00000506722, 
ENST00000394537, ENST00000357077, 
ENST00000264366, ENST00000509550, 
ENST00000510275, ENST00000504887, 
Fusion gene scores* DoF score5 X 4 X 3=606 X 8 X 3=144
# samples 59
** MAII scorelog2(5/60*10)=-0.263034405833794
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: PCF11 [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
ChiTaRS3.1BF963381PCF11chr11

82869381

-ANK2chr4

114201791

+
* 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-intronENST00000298281ENST00000506722PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000394537PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000357077PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000264366PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000509550PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000510275PCF11chr11

82869381

-ANK2chr4

114201791

+
intron-intronENST00000298281ENST00000504887PCF11chr11

82869381

-ANK2chr4

114201791

+

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FusionProtFeatures for PCF11_ANK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PCF11

O94913

ANK2

Q01484

Component of pre-mRNA cleavage complex II. 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 PCF11_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 PCF11_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 PCF11_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 PCF11_ANK2


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