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Fusion gene ID: 1313 |
FusionGeneSummary for AKAP13_CHD2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: AKAP13_CHD2 | Fusion gene ID: 1313 | Hgene | Tgene | Gene symbol | AKAP13 | CHD2 | Gene ID | 11214 | 1826 |
| Gene name | A-kinase anchoring protein 13 | DS cell adhesion molecule | |
| Synonyms | AKAP-13|AKAP-Lbc|ARHGEF13|BRX|HA-3|Ht31|LBC|PRKA13|PROTO-LB|PROTO-LBC|c-lbc|p47 | CHD2|CHD2-42|CHD2-52 | |
| Cytomap | 15q25.3 | 21q22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | A-kinase anchor protein 13A kinase (PRKA) anchor protein 13LBC oncogenebreast cancer nuclear receptor-binding auxiliary proteinguanine nucleotide exchange factor Lbchuman thyroid-anchoring protein 31lymphoid blast crisis oncogenenon-oncogenic Rho G | Down syndrome cell adhesion molecule | |
| Modification date | 20180522 | 20180519 | |
| UniProtAcc | Q12802 | O14647 | |
| Ensembl transtripts involved in fusion gene | ENST00000560302, ENST00000394518, ENST00000361243, ENST00000560579, ENST00000394510, | ENST00000394196, ENST00000557381, ENST00000420239, ENST00000536619, ENST00000554122, | |
| Fusion gene scores | * DoF score | 21 X 16 X 12=4032 | 5 X 7 X 2=70 |
| # samples | 22 | 7 | |
| ** MAII score | log2(22/4032*10)=-4.19592020997526 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/70*10)=0 | |
| Context | PubMed: AKAP13 [Title/Abstract] AND CHD2 [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 |
| Hgene | AKAP13 | GO:0007186 | G-protein coupled receptor signaling pathway | 11546812 |
| Hgene | AKAP13 | GO:0035025 | positive regulation of Rho protein signal transduction | 11546812 |
| Tgene | CHD2 | GO:0042327 | positive regulation of phosphorylation | 19196994 |
| Tgene | CHD2 | GO:0048842 | positive regulation of axon extension involved in axon guidance | 18585357 |
| 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 |
| TCGA | RV | LUSC | TCGA-66-2758-01A | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| * 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 |
| Frame-shift | ENST00000560302 | ENST00000394196 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| Frame-shift | ENST00000560302 | ENST00000557381 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000560302 | ENST00000420239 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000560302 | ENST00000536619 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000560302 | ENST00000554122 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| Frame-shift | ENST00000394518 | ENST00000394196 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| Frame-shift | ENST00000394518 | ENST00000557381 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000394518 | ENST00000420239 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000394518 | ENST00000536619 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000394518 | ENST00000554122 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| Frame-shift | ENST00000361243 | ENST00000394196 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| Frame-shift | ENST00000361243 | ENST00000557381 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000361243 | ENST00000420239 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000361243 | ENST00000536619 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| 5CDS-intron | ENST00000361243 | ENST00000554122 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-3CDS | ENST00000560579 | ENST00000394196 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-3CDS | ENST00000560579 | ENST00000557381 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000560579 | ENST00000420239 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000560579 | ENST00000536619 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000560579 | ENST00000554122 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-3CDS | ENST00000394510 | ENST00000394196 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-3CDS | ENST00000394510 | ENST00000557381 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000394510 | ENST00000420239 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000394510 | ENST00000536619 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
| intron-intron | ENST00000394510 | ENST00000554122 | AKAP13 | chr15 | 86077111 | + | CHD2 | chr15 | 93555575 | + |
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FusionProtFeatures for AKAP13_CHD2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| AKAP13 | CHD2 |
| DNA-binding helicase that specifically binds to thepromoter of target genes, leading to chromatin remodeling,possibly by promoting deposition of histone H3.3. Involved inmyogenesis via interaction with MYOD1: binds to myogenic generegulatory sequences and mediates incorporation of histone H3.3prior to the onset of myogenic gene expression, promoting theirexpression (By similarity). {ECO:0000250}. |
| 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 AKAP13_CHD2 |
| 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 AKAP13_CHD2 |
| 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 |
| AKAP13 | BAK1, YWHAB, GNA12, PRKAR2A, RHOA, GNAQ, CTNNAL1, RXRB, ESR1, PPARA, THRA, RANBP2, YWHAG, PRKD1, PRKACA, MAP1LC3A, RTKN, PRKAR2B, UBB, MTR, FBXW11, PRKCH, PRKCA, APP, SRPK2, APC, TRIM25 | CHD2 | SIRT7, SRPK2, MID2, THAP1, TEKT1, TRIM41, BEND7, EED, CTR9, LEO1, PAF1, TAF9, UHRF2 |
| - 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 AKAP13_CHD2 |
| 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 AKAP13_CHD2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | AKAP13 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| Hgene | AKAP13 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Tgene | CHD2 | C0014544 | Epilepsy | 1 | CTD_human |
| Tgene | CHD2 | C3809278 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | 1 | UNIPROT |
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