|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 18130 |
FusionGeneSummary for KANK2_DOCK6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KANK2_DOCK6 | Fusion gene ID: 18130 | Hgene | Tgene | Gene symbol | KANK2 | DOCK6 | Gene ID | 25959 | 57572 |
| Gene name | KN motif and ankyrin repeat domains 2 | dedicator of cytokinesis 6 | |
| Synonyms | ANKRD25|MXRA3|NPHS16|PPKWH|SIP | AOS2|ZIR1 | |
| Cytomap | 19p13.2 | 19p13.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | KN motif and ankyrin repeat domain-containing protein 2SRC-interacting proteinSRC1-interacting proteinankyrin repeat domain-containing protein 25kidney ankyrin repeat-containing protein 2matrix-remodeling-associated protein 3 | dedicator of cytokinesis protein 6 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q63ZY3 | Q96HP0 | |
| Ensembl transtripts involved in fusion gene | ENST00000586659, ENST00000355150, ENST00000432929, ENST00000587317, ENST00000589359, ENST00000589894, | ENST00000586702, ENST00000294618, ENST00000319867, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 10 X 8 X 7=560 |
| # samples | 1 | 11 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(11/560*10)=-2.34792330342031 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: KANK2 [Title/Abstract] AND DOCK6 [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 | KANK2 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 17476305 |
| Hgene | KANK2 | GO:0008285 | negative regulation of cell proliferation | 17476305 |
| Hgene | KANK2 | GO:0033147 | negative regulation of intracellular estrogen receptor signaling pathway | 17476305 |
| Hgene | KANK2 | GO:0043069 | negative regulation of programmed cell death | 22371500 |
| Hgene | KANK2 | GO:2000134 | negative regulation of G1/S transition of mitotic cell cycle | 17476305 |
| 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 | LUAD | TCGA-83-5908-01A | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| * 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 |
| 5UTR-intron | ENST00000586659 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000586659 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000586659 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000355150 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000355150 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000355150 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000432929 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000432929 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000432929 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000587317 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000587317 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000587317 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000589359 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000589359 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| 5UTR-intron | ENST00000589359 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000589894 | ENST00000586702 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000589894 | ENST00000294618 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
| intron-intron | ENST00000589894 | ENST00000319867 | KANK2 | chr19 | 11308160 | - | DOCK6 | chr19 | 11315006 | - |
Top |
FusionProtFeatures for KANK2_DOCK6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KANK2 | DOCK6 |
| Involved in transcription regulation by sequesteringnuclear receptor coactivators, such as NCOA1, NCOA2 and NCOA3, inthe cytoplasm; the function is deregulated by phosphorylation.Involved in the negative control of vitamin D receptor signalingpathway (PubMed:24671081). May be involved in the control ofcytoskeleton formation by regulating actin polymerization.Involved in regulation of caspase-independent apoptosis; proposedto sequester AIFM1 in mitochondria and apoptotic stimuli lead toits proteasomal degradation allowing the release of AIFM1 to thenucleus (PubMed:22371500). May be involved in promotion of cellproliferation (By similarity). {ECO:0000250|UniProtKB:Q8BX02,ECO:0000269|PubMed:17476305, ECO:0000269|PubMed:22371500,ECO:0000269|PubMed:24671081}. | Acts as guanine nucleotide exchange factor (GEF) forCDC42 and RAC1 small GTPases. Through its activation of CDC42 andRAC1, may regulate neurite outgrowth (By similarity).{ECO:0000250, ECO:0000269|PubMed:17196961}. |
| 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 |
Top |
FusionGeneSequence for KANK2_DOCK6 |
| 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). |
Top |
FusionGenePPI for KANK2_DOCK6 |
| 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 |
| KANK2 | GRK5, NCOA1, NCOA3, NCOA2, CSNK2A1, NOS3, PSEN1, FN1, DCP1A, DCP1B, EIF4E, AES, FHL2, GOLGA2, LMO1, LMO2, MAGEB4, VPS52, STAC, LMO4, DYNLL1, KANK2, GPSM1, ABI3, MOB1A, CCDC33, CEP70, TXLNA, CCDC36, PELI3, ANTXR1, TFDP3, PRMT2, NTRK1, BTRC, MED4, SRPK2, SSX2IP, CNTROB, NINL, XPO1, SEC16A, KIF21A, FOXK1, FOXK2, CDH1, PROZ, PPFIBP1, TMOD4, SKP2, THSD4, BBS7, G3BP1 | DOCK6 | TADA2A, UBC, CRLF3, DOCK7, DOCK8, LRCH3, MOB1A, MOB1B, XPO1, CLU, MYH6, RAB2A, LRP8, REEP5, SLC33A1, RNASEH2A, RAB32, KIF7, ZNF785, ZNF331 |
| - 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 |
Top |
RelatedDrugs for KANK2_DOCK6 |
| 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 |
Top |
RelatedDiseases for KANK2_DOCK6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | KANK2 | C4015202 | PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|