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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10801

FusionGeneSummary for DYRK1A_ACOXL

check button Fusion gene summary
Fusion gene informationFusion gene name: DYRK1A_ACOXL
Fusion gene ID: 10801
HgeneTgene
Gene symbol

DYRK1A

ACOXL

Gene ID

1859

55289

Gene namedual specificity tyrosine phosphorylation regulated kinase 1Aacyl-CoA oxidase like
SynonymsDYRK|DYRK1|HP86|MNB|MNBH|MRD7-
Cytomap

21q22.13

2q13

Type of geneprotein-codingprotein-coding
Descriptiondual 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 homologsacyl-coenzyme A oxidase-like proteinacyl-CoA oxidase-like protein
Modification date2018052220180523
UniProtAcc

Q13627

Q9NUZ1

Ensembl transtripts involved in fusion geneENST00000462274, ENST00000338785, 
ENST00000451934, ENST00000321219, 
ENST00000339659, ENST00000398960, 
ENST00000398956, ENST00000455387, 
ENST00000389811, ENST00000439055, 
ENST00000340561, ENST00000496981, 
Fusion gene scores* DoF score16 X 9 X 10=14403 X 3 X 2=18
# samples 203
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneDYRK1A

GO:0018108

peptidyl-tyrosine phosphorylation

9748265

HgeneDYRK1A

GO:0033120

positive regulation of RNA splicing

28377597

HgeneDYRK1A

GO:0038083

peptidyl-tyrosine autophosphorylation

24327345


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BF333889DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000462274ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000462274ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000462274ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000462274ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000338785ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000338785ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000338785ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000338785ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000451934ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000451934ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000451934ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000451934ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000321219ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000321219ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000321219ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000321219ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000339659ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000339659ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000339659ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000339659ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398960ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398960ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398960ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398960ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398956ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398956ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398956ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000398956ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000455387ENST00000389811DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000455387ENST00000439055DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000455387ENST00000340561DYRK1Achr21

38782650

+ACOXLchr2

111812719

+
intron-intronENST00000455387ENST00000496981DYRK1Achr21

38782650

+ACOXLchr2

111812719

+

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FusionProtFeatures for DYRK1A_ACOXL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DYRK1A

Q13627

ACOXL

Q9NUZ1

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for DYRK1A_ACOXL


check button 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 DYRK1A_ACOXL


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for DYRK1A_ACOXL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DYRK1A_ACOXL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACOXLC0023434Chronic Lymphocytic Leukemia1CTD_human