|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 10801 |
FusionGeneSummary for DYRK1A_ACOXL |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DYRK1A_ACOXL | Fusion gene ID: 10801 | Hgene | Tgene | Gene symbol | DYRK1A | ACOXL | Gene ID | 1859 | 55289 |
| Gene name | dual specificity tyrosine phosphorylation regulated kinase 1A | acyl-CoA oxidase like | |
| Synonyms | DYRK|DYRK1|HP86|MNB|MNBH|MRD7 | - | |
| Cytomap | 21q22.13 | 2q13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | dual specificity tyrosine-phosphorylation-regulated kinase 1AMNB/DYRK protein kinasedual specificity YAK1-related kinasedual specificity tyrosine-(Y)-phosphorylation regulated kinase 1Amnb protein kinase homolog hp86protein kinase minibrain homologs | acyl-coenzyme A oxidase-like proteinacyl-CoA oxidase-like protein | |
| Modification date | 20180522 | 20180523 | |
| UniProtAcc | Q13627 | Q9NUZ1 | |
| Ensembl transtripts involved in fusion gene | ENST00000462274, ENST00000338785, ENST00000451934, ENST00000321219, ENST00000339659, ENST00000398960, ENST00000398956, ENST00000455387, | ENST00000389811, ENST00000439055, ENST00000340561, ENST00000496981, | |
| Fusion gene scores | * DoF score | 16 X 9 X 10=1440 | 3 X 3 X 2=18 |
| # samples | 20 | 3 | |
| ** MAII score | log2(20/1440*10)=-2.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: DYRK1A [Title/Abstract] AND ACOXL [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 | DYRK1A | GO:0018108 | peptidyl-tyrosine phosphorylation | 9748265 |
| Hgene | DYRK1A | GO:0033120 | positive regulation of RNA splicing | 28377597 |
| Hgene | DYRK1A | GO:0038083 | peptidyl-tyrosine autophosphorylation | 24327345 |
| 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 |
| ChiTaRS3.1 | BF333889 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| * 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-intron | ENST00000462274 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000462274 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000462274 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000462274 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000338785 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000338785 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000338785 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000338785 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000451934 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000451934 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000451934 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000451934 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000321219 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000321219 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000321219 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000321219 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000339659 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000339659 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000339659 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000339659 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398960 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398960 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398960 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398960 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398956 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398956 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398956 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000398956 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000455387 | ENST00000389811 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000455387 | ENST00000439055 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000455387 | ENST00000340561 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
| intron-intron | ENST00000455387 | ENST00000496981 | DYRK1A | chr21 | 38782650 | + | ACOXL | chr2 | 111812719 | + |
Top |
FusionProtFeatures for DYRK1A_ACOXL |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DYRK1A | ACOXL |
| Dual-specificity kinase which possesses bothserine/threonine and tyrosine kinase activities. May play a rolein a signaling pathway regulating nuclear functions of cellproliferation. Modulates alternative splicing by phosphorylatingthe splice factor SRSF6 (By similarity). Exhibits a substratepreference for proline at position P+1 and arginine at position P-3. Has pro-survival function and negatively regulates theapoptotic process. Promotes cell survival upon genotoxic stressthrough phosphorylation of SIRT1. This in turn inhibits TP53activity and apoptosis (By similarity).{ECO:0000250|UniProtKB:Q61214, ECO:0000250|UniProtKB:Q9NR20,ECO:0000269|PubMed:20981014, ECO:0000269|PubMed:21127067,ECO:0000269|PubMed:23665168, ECO:0000269|PubMed:8769099}. |
| 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 DYRK1A_ACOXL |
| 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 DYRK1A_ACOXL |
| 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 |
Top |
RelatedDrugs for DYRK1A_ACOXL |
| 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 DYRK1A_ACOXL |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | ACOXL | C0023434 | Chronic Lymphocytic Leukemia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|