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Fusion gene ID: 18123 |
FusionGeneSummary for KANK1_DNAH5 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KANK1_DNAH5 | Fusion gene ID: 18123 | Hgene | Tgene | Gene symbol | KANK1 | DNAH5 | Gene ID | 23189 | 1767 |
| Gene name | KN motif and ankyrin repeat domains 1 | dynein axonemal heavy chain 5 | |
| Synonyms | ANKRD15|CPSQ2|KANK | CILD3|DNAHC5|HL1|KTGNR|PCD | |
| Cytomap | 9p24.3 | 5p15.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KN motif and ankyrin repeat domain-containing protein 1ankyrin repeat domain-containing protein 15kidney ankyrin repeat-containing protein | dynein heavy chain 5, axonemalaxonemal beta dynein heavy chain 5ciliary dynein heavy chain 5dynein, axonemal, heavy polypeptide 5 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q14678 | Q8TE73 | |
| Ensembl transtripts involved in fusion gene | ENST00000382303, ENST00000489369, ENST00000382297, ENST00000382293, | ENST00000265104, ENST00000504001, | |
| Fusion gene scores | * DoF score | 8 X 6 X 9=432 | 5 X 4 X 3=60 |
| # samples | 9 | 4 | |
| ** MAII score | log2(9/432*10)=-2.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/60*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KANK1 [Title/Abstract] AND DNAH5 [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 | KANK1 | GO:0010977 | negative regulation of neuron projection development | 19171758 |
| Hgene | KANK1 | GO:0030177 | positive regulation of Wnt signaling pathway | 16968744 |
| Hgene | KANK1 | GO:0030837 | negative regulation of actin filament polymerization | 17996375|18458160 |
| Hgene | KANK1 | GO:1900025 | negative regulation of substrate adhesion-dependent cell spreading | 19171758 |
| Hgene | KANK1 | GO:1900028 | negative regulation of ruffle assembly | 19171758 |
| Hgene | KANK1 | GO:2000393 | negative regulation of lamellipodium morphogenesis | 19171758 |
| 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 | SARC | TCGA-DX-A1L0-01A | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| * 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-3CDS | ENST00000382303 | ENST00000265104 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| intron-intron | ENST00000382303 | ENST00000504001 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| 3UTR-3CDS | ENST00000489369 | ENST00000265104 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| 3UTR-intron | ENST00000489369 | ENST00000504001 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| 5UTR-3CDS | ENST00000382297 | ENST00000265104 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| 5UTR-intron | ENST00000382297 | ENST00000504001 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| intron-3CDS | ENST00000382293 | ENST00000265104 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
| intron-intron | ENST00000382293 | ENST00000504001 | KANK1 | chr9 | 504754 | + | DNAH5 | chr5 | 13931353 | - |
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FusionProtFeatures for KANK1_DNAH5 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KANK1 | DNAH5 |
| Involved in the control of cytoskeleton formation byregulating actin polymerization. Inhibits actin fiber formationand cell migration. Inhibits RhoA activity; the function involvesphosphorylation through PI3K/Akt signaling and may depend on thecompetetive interaction with 14-3-3 adapter proteins to sequesterthem from active complexes. Inhibits the formation of lamellipodiabut not of filopodia; the function may depend on the competetiveinteraction with BAIAP2 to block its association with activatedRAC1. Inhibits fibronectin-mediated cell spreading; the functionis partially mediated by BAIAP2. Inhibits neurite outgrowth.Involved in the establishment and persistence of cell polarityduring directed cell movement in wound healing. In the nucleus, isinvolved in beta-catenin-dependent activation of transcription.Potential tumor suppressor for renal cell carcinoma.{ECO:0000269|PubMed:16968744, ECO:0000269|PubMed:18458160,ECO:0000269|PubMed:19171758, ECO:0000269|PubMed:22084092}. | Force generating protein of respiratory cilia. Producesforce towards the minus ends of microtubules. Dynein has ATPaseactivity; the force-producing power stroke is thought to occur onrelease of ADP. Required for structural and functional integrityof the cilia of ependymal cells lining the brain ventricles. |
| 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 KANK1_DNAH5 |
| 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 KANK1_DNAH5 |
| 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 |
| KANK1 | PPP1CA, GRK5, ENO1, SHMT2, MOV10, NXF1, EPB41L3, DYNLL1, KIF21A, ARRB2, PIP4K2A, TRIM25 | DNAH5 |
| - 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 KANK1_DNAH5 |
| 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 KANK1_DNAH5 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KANK1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | KANK1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Tgene | DNAH5 | C1837618 | CILIARY DYSKINESIA, PRIMARY, 3 | 3 | CTD_human;UNIPROT |
| Tgene | DNAH5 | C0004096 | Asthma | 1 | CTD_human |
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