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Fusion gene ID: 6544 |
FusionGeneSummary for CDK2AP1_KCNQ1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CDK2AP1_KCNQ1 | Fusion gene ID: 6544 | Hgene | Tgene | Gene symbol | CDK2AP1 | KCNQ1 | Gene ID | 8099 | 3784 |
| Gene name | cyclin dependent kinase 2 associated protein 1 | potassium voltage-gated channel subfamily Q member 1 | |
| Synonyms | DOC1|DORC1|ST19|doc-1|p12DOC-1 | ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS | |
| Cytomap | 12q24.31 | 11p15.5-p15.4 | |
| Type of gene | protein-coding | protein-coding | |
| Description | cyclin-dependent kinase 2-associated protein 1CDK2-associated protein 1Deleted in oral cancer-1deleted in oral cancer 1putative oral cancer suppressor | potassium voltage-gated channel subfamily KQT member 1IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1kidney and cardiac voltage dependend K+ channelpotassium channel, voltage gated KQT-like subfamily Q, member 1potassium voltag | |
| Modification date | 20180519 | 20180527 | |
| UniProtAcc | O14519 | P51787 | |
| Ensembl transtripts involved in fusion gene | ENST00000261692, ENST00000538446, ENST00000535979, ENST00000542174, ENST00000544658, | ENST00000155840, ENST00000335475, ENST00000526095, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 5 X 4 X 4=80 |
| # samples | 3 | 5 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: CDK2AP1 [Title/Abstract] AND KCNQ1 [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 | CDK2AP1 | GO:0001934 | positive regulation of protein phosphorylation | 9506968 |
| Tgene | KCNQ1 | GO:0035690 | cellular response to drug | 9108097 |
| Tgene | KCNQ1 | GO:0060306 | regulation of membrane repolarization | 11299204 |
| Tgene | KCNQ1 | GO:0071320 | cellular response to cAMP | 11299204|16002409 |
| Tgene | KCNQ1 | GO:0071435 | potassium ion export | 8900283|10400998 |
| Tgene | KCNQ1 | GO:0071805 | potassium ion transmembrane transport | 9354802|11299204|16002409 |
| Tgene | KCNQ1 | GO:0086011 | membrane repolarization during action potential | 8900283|11299204|19646991 |
| Tgene | KCNQ1 | GO:0097623 | potassium ion export across plasma membrane | 17289006 |
| Tgene | KCNQ1 | GO:1901381 | positive regulation of potassium ion transmembrane transport | 8900283 |
| 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 | LD | OV | TCGA-20-1685-01A | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| * 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 | ENST00000261692 | ENST00000155840 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| Frame-shift | ENST00000261692 | ENST00000335475 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| 5CDS-intron | ENST00000261692 | ENST00000526095 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000538446 | ENST00000155840 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000538446 | ENST00000335475 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-intron | ENST00000538446 | ENST00000526095 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000535979 | ENST00000155840 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000535979 | ENST00000335475 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-intron | ENST00000535979 | ENST00000526095 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000542174 | ENST00000155840 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000542174 | ENST00000335475 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-intron | ENST00000542174 | ENST00000526095 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000544658 | ENST00000155840 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-3CDS | ENST00000544658 | ENST00000335475 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
| intron-intron | ENST00000544658 | ENST00000526095 | CDK2AP1 | chr12 | 123756111 | - | KCNQ1 | chr11 | 2790074 | + |
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FusionProtFeatures for CDK2AP1_KCNQ1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CDK2AP1 | KCNQ1 |
| specific inhibitor of the cell-cycle kinase CDK2.{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 CDK2AP1_KCNQ1 |
| 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 CDK2AP1_KCNQ1 |
| 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 |
| CDK2AP1 | AMY1A, IGHA1, IGHA2, CDK2, POLA1, SRRM2, HDAC1, HDAC2, RBBP7, RBBP4, MBD3, MBD2, ELAVL1, CDK2AP2, VCP, MTA3, ZNF420, CCDC136, MRFAP1L1, ZNF219, GATAD2B, MBD3L1, ALDOA, CHD3, CHD4, ERCC6, RPS15, TCF20, TRPS1, XRCC1, LEO1, MTA1, MTA2, PHF14, HMG20A, RAI1, ZMYND8, KPNA6, ZBTB7B, SH3GLB1, ESF1, GATAD2A, DDX60, TSR1, TMEM165, ZNF687, ZBTB2, COPS7B, WDR77, PGBD3, BCOR, NANOG, POU5F1, STRAP | KCNQ1 | TRAF6, AKAP9, PRKAR2A, PPP1CA, PRKACA, KCNE1, KCNE2, KCNQ2, HSPA4, NEDD4, USP2, AP2M1, NEDD4L, ATP4A, EGFR, BACE1 |
| - 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 CDK2AP1_KCNQ1 |
| 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 |
| Tgene | KCNQ1 | P51787 | DB00808 | Indapamide | Potassium voltage-gated channel subfamily KQT member 1 {ECO:0000305} | small molecule | approved |
| Tgene | KCNQ1 | P51787 | DB11633 | Isavuconazole | Potassium voltage-gated channel subfamily KQT member 1 {ECO:0000305} | small molecule | approved|investigational |
| Tgene | KCNQ1 | P51787 | DB01244 | Bepridil | Potassium voltage-gated channel subfamily KQT member 1 {ECO:0000305} | small molecule | approved|withdrawn |
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RelatedDiseases for CDK2AP1_KCNQ1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | KCNQ1 | C0035828 | Romano-Ward Syndrome | 36 | CTD_human;ORPHANET;UNIPROT |
| Tgene | KCNQ1 | C0022387 | Jervell-Lange Nielsen Syndrome | 9 | CTD_human;ORPHANET;UNIPROT |
| Tgene | KCNQ1 | C0023976 | Long QT Syndrome | 7 | CTD_human |
| Tgene | KCNQ1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 3 | CTD_human |
| Tgene | KCNQ1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | KCNQ1 | C0018781 | Noise-induced hearing loss | 1 | CTD_human |
| Tgene | KCNQ1 | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
| Tgene | KCNQ1 | C1837014 | Atrial Fibrillation, Familial, 3 | 1 | CTD_human;UNIPROT |
| Tgene | KCNQ1 | C1865019 | SHORT QT SYNDROME 2 (disorder) | 1 | CTD_human;UNIPROT |
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