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 | Fusion Gene Summary |
| Fusion Gene ORF analysis |
| Fusion Genomic Features |
| Fusion Protein Features |
| Fusion Gene Sequence |
| Fusion Gene PPI analysis |
| Related Drugs |
| Related Diseases |
Fusion gene:ANK3-CCDC6 (FusionGDB2 ID:HG288TG8030) |
Fusion Gene Summary for ANK3-CCDC6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANK3-CCDC6 | Fusion gene ID: hg288tg8030 | Hgene | Tgene | Gene symbol | ANK3 | CCDC6 | Gene ID | 288 | 8030 |
| Gene name | ankyrin 3 | coiled-coil domain containing 6 | |
| Synonyms | ANKYRIN-G|MRT37 | D10S170|H4|PTC|TPC|TST1 | |
| Cytomap | ('ANK3')('CCDC6') 10q21.2 | 10q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ankyrin-3ankyrin 3, node of Ranvier (ankyrin G) | coiled-coil domain-containing protein 6papillary thyroid carcinoma-encoded protein | |
| Modification date | 20200313 | 20200327 | |
| UniProtAcc | Q12955 | Q16204 | |
| Ensembl transtripts involved in fusion gene | ENST00000280772, ENST00000355288, ENST00000373827, ENST00000503366, ENST00000460468, ENST00000510382, | ENST00000280772, ENST00000355288, ENST00000373827, ENST00000503366, ENST00000510382, ENST00000460468, | |
| Fusion gene scores | * DoF score | 28 X 22 X 9=5544 | 12 X 8 X 6=576 |
| # samples | 29 | 14 | |
| ** MAII score | log2(29/5544*10)=-4.25680245212228 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(14/576*10)=-2.04064198449735 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ANK3 [Title/Abstract] AND CCDC6 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ANK3(61815416)-CCDC6(61612460), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | CCDC6-ANK3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CCDC6-ANK3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ANK3-CCDC6 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ANK3-CCDC6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. CCDC6-ANK3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. CCDC6-ANK3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. | ||
| * 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 * 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-A2-A0T0-01A | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| ChimerDB4 | THCA | TCGA-E8-A44M-01A | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
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Fusion Gene ORF analysis for ANK3-CCDC6 |
| 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 |
| Frame-shift | ENST00000280772 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000280772 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000355288 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000355288 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000373827 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000373827 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000503366 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| Frame-shift | ENST00000503366 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| intron-3CDS | ENST00000460468 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| intron-3CDS | ENST00000460468 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| intron-3CDS | ENST00000510382 | ENST00000263102 | ANK3 | chr10 | 61894029 | - | CCDC6 | chr10 | 61612460 | - |
| intron-3CDS | ENST00000510382 | ENST00000263102 | ANK3 | chr10 | 61815416 | - | CCDC6 | chr10 | 61612460 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ANK3-CCDC6 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ANK3-CCDC6 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:61815416/:61612460) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANK3 | CCDC6 |
| FUNCTION: In skeletal muscle, required for costamere localization of DMD and betaDAG1 (By similarity). Membrane-cytoskeleton linker. May participate in the maintenance/targeting of ion channels and cell adhesion molecules at the nodes of Ranvier and axonal initial segments. Regulates KCNA1 channel activity in function of dietary Mg(2+) levels, and thereby contributes to the regulation of renal Mg(2+) reabsorption (PubMed:23903368). {ECO:0000250, ECO:0000269|PubMed:17974005}.; FUNCTION: [Isoform 5]: May be part of a Golgi-specific membrane cytoskeleton in association with beta-spectrin. {ECO:0000305|PubMed:17974005}. |
| 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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Fusion Gene Sequence for ANK3-CCDC6 |
| 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 ANK3-CCDC6 |
| 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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Related Drugs for ANK3-CCDC6 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ANK3-CCDC6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ANK3 | C0005586 | Bipolar Disorder | 8 | CTD_human;PSYGENET |
| Hgene | ANK3 | C0005587 | Depression, Bipolar | 3 | CTD_human |
| Hgene | ANK3 | C0024713 | Manic Disorder | 3 | CTD_human |
| Hgene | ANK3 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Hgene | ANK3 | C0338831 | Manic | 3 | CTD_human |
| Hgene | ANK3 | C0033975 | Psychotic Disorders | 2 | PSYGENET |
| Hgene | ANK3 | C0525045 | Mood Disorders | 2 | PSYGENET |
| Hgene | ANK3 | C0015923 | Fetal Alcohol Syndrome | 1 | CTD_human |
| Hgene | ANK3 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | ANK3 | C0033300 | Progeria | 1 | CTD_human |
| Hgene | ANK3 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | ANK3 | C0178417 | Anhedonia | 1 | PSYGENET |
| Hgene | ANK3 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
| Hgene | ANK3 | C0270823 | Petit mal status | 1 | CTD_human |
| Hgene | ANK3 | C0311335 | Grand Mal Status Epilepticus | 1 | CTD_human |
| Hgene | ANK3 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| Hgene | ANK3 | C0393734 | Complex Partial Status Epilepticus | 1 | CTD_human |
| Hgene | ANK3 | C0751522 | Status Epilepticus, Subclinical | 1 | CTD_human |
| Hgene | ANK3 | C0751523 | Non-Convulsive Status Epilepticus | 1 | CTD_human |
| Hgene | ANK3 | C0751524 | Simple Partial Status Epilepticus | 1 | CTD_human |
| Hgene | ANK3 | C0814154 | Alcohol Related Neurodevelopmental Disorder | 1 | CTD_human |
| Hgene | ANK3 | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | CTD_human |
| Hgene | ANK3 | C3146244 | Alcohol Related Birth Defect | 1 | CTD_human |
| Hgene | ANK3 | C3661483 | Partial Fetal Alcohol Syndrome | 1 | CTD_human |
| Hgene | ANK3 | C3809672 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37 | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | C0238463 | Papillary thyroid carcinoma | 2 | CTD_human;ORPHANET | |
| Tgene | C3501843 | Nonmedullary Thyroid Carcinoma | 1 | CTD_human | |
| Tgene | C3501844 | Familial Nonmedullary Thyroid Cancer | 1 | CTD_human |
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