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Fusion gene ID: 1675 |
FusionGeneSummary for ANK2_PCDHB14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANK2_PCDHB14 | Fusion gene ID: 1675 | Hgene | Tgene | Gene symbol | ANK2 | PCDHB14 | Gene ID | 287 | 56122 |
| Gene name | ankyrin 2 | protocadherin beta 14 | |
| Synonyms | ANK-2|LQT4|brank-2 | PCDH-BETA14 | |
| Cytomap | 4q25-q26 | 5q31.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin-2ankyrin 2, neuronalankyrin Bankyrin, brainankyrin-2, nonerythrocyticnon-erythroid ankyrin | protocadherin beta-14 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q01484 | Q9Y5E9 | |
| Ensembl transtripts involved in fusion gene | ENST00000506722, ENST00000394537, ENST00000357077, ENST00000264366, ENST00000509550, ENST00000510275, ENST00000504887, | ENST00000515856, ENST00000239449, | |
| Fusion gene scores | * DoF score | 8 X 9 X 4=288 | 1 X 1 X 1=1 |
| # samples | 11 | 1 | |
| ** MAII score | log2(11/288*10)=-1.38856528791765 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ANK2 [Title/Abstract] AND PCDHB14 [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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF949569 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| intron-3UTR | ENST00000506722 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000506722 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000394537 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000394537 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000357077 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000357077 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000264366 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000264366 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000509550 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000509550 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000510275 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000510275 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000504887 | ENST00000515856 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
| intron-3UTR | ENST00000504887 | ENST00000239449 | ANK2 | chr4 | 113966934 | - | PCDHB14 | chr5 | 140605625 | - |
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FusionProtFeatures for ANK2_PCDHB14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANK2 | PCDHB14 |
| 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}. | Potential calcium-dependent cell-adhesion protein. Maybe involved in the establishment and maintenance of specificneuronal connections in the brain. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ANK2_PCDHB14 |
| 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_PCDHB14 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ANK2_PCDHB14 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ANK2_PCDHB14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ANK2 | C1970119 | CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED | 1 | CTD_human;UNIPROT |
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