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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: 10814

FusionGeneSummary for DYRK1A_RUNX1

check button Fusion gene summary
Fusion gene informationFusion gene name: DYRK1A_RUNX1
Fusion gene ID: 10814
HgeneTgene
Gene symbol

DYRK1A

RUNX1

Gene ID

1859

861

Gene namedual specificity tyrosine phosphorylation regulated kinase 1Arunt related transcription factor 1
SynonymsDYRK|DYRK1|HP86|MNB|MNBH|MRD7AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha
Cytomap

21q22.13

21q22.12

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 homologsrunt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2
Modification date2018052220180527
UniProtAcc

Q13627

Q01196

Ensembl transtripts involved in fusion geneENST00000462274, ENST00000338785, 
ENST00000451934, ENST00000321219, 
ENST00000339659, ENST00000398960, 
ENST00000398956, ENST00000455387, 
ENST00000344691, ENST00000325074, 
ENST00000437180, ENST00000300305, 
ENST00000399240, ENST00000486278, 
ENST00000494829, ENST00000358356, 
Fusion gene scores* DoF score16 X 9 X 10=144017 X 29 X 7=3451
# samples 2033
** MAII scorelog2(20/1440*10)=-2.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(33/3451*10)=-3.3864765441897
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DYRK1A [Title/Abstract] AND RUNX1 [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

TgeneRUNX1

GO:0030097

hemopoiesis

21873977

TgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

TgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977


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
TCGARVHNSCTCGA-CQ-7065-01ADYRK1Achr21

38868560

+RUNX1chr21

36265260

-
* 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-intronENST00000462274ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-5UTRENST00000462274ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
intron-intronENST00000462274ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000338785ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000338785ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000451934ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000451934ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000321219ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000321219ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000339659ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000339659ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000398960ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398960ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000398956ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000398956ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000344691DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000325074DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000437180DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000300305DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000399240DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-5UTRENST00000455387ENST00000486278DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000494829DYRK1Achr21

38868560

+RUNX1chr21

36265260

-
5CDS-intronENST00000455387ENST00000358356DYRK1Achr21

38868560

+RUNX1chr21

36265260

-

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FusionProtFeatures for DYRK1A_RUNX1


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

Q13627

RUNX1

Q01196

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_RUNX1


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_RUNX1


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
DYRK1ASFN, SRSF4, CCNL2, SRSF5, CLASRP, SRSF1, DCAF7, DNM1, HIST1H2BB, HIST1H3A, HIST1H4A, YWHAG, ELAVL1, CLTC, SH3GL2, ISG15, AMPH, PRD, HIPK2, MAP3K1, LATS2, LIN52, SMAD3, MAP3K5, SNCA, APP, BARD1, TRAF3, RBL1, RB1, LZTS2, TROAP, CCNA2, PRKAR1A, RBL2, CREBBP, EP300, FAM117B, GLCCI1, FAM53C, FAM117A, RNF169, DYNLL1, ABCD3, DYNLL2, SIPA1L1, FNTA, FNTB, PPP1R3F, KIAA0232, CCDC8, PRKACA, PRKACB, MOV10, NXF1, RFPL2, CTBP1, LIPH, NTRK1, MED23, XPO1, TBP, ID2, DYRK1A, EGLN2, FOXR2, PARK2, RAD54L2, BTRC, C10orf71, LRCH3, NXF2, TBC1D7, TSC1, TRIM25, BRCA1RUNX1SUV39H1, KAT6B, CBFB, AES, PAX5, YAP1, JUN, FOS, SMAD3, SMAD1, SMAD2, SMAD5, VDR, ELF4, ELF2, CEBPB, TLE1, CBFA2T2, TRAF6, FHL2, MYOD1, HIPK2, EP300, HDAC1, HDAC3, KAT6A, TCF12, TCF3, RUNX1T1, NCOR1, SIAH1, UBE2L6, RUNX1, PML, RARA, HDAC2, SIN3A, NR4A2, TRIM33, STUB1, SMARCA4, SMARCB1, SMARCC1, CDK1, TAL1, COPRS, KMT2A, RBM14, SPEN, DNMT1, ELAVL1, CBFA2T3, PRMT1, HLA-DMA, CREBBP, UXT, CTBP2, NOTCH1, MYC, NCOR2, FOXP3, SOX2, CTBP1, HDAC11, RAG1, SPI1, ELF1, CDK6, KLF6, NFATC1, NFATC2, ZNF131, BRCA1, CDK9, FANCD2


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_RUNX1


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_RUNX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRUNX1C0023467Leukemia, Myelocytic, Acute2CTD_human;HPO
TgeneRUNX1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma2CTD_human
TgeneRUNX1C0003873Rheumatoid Arthritis1CTD_human
TgeneRUNX1C0017636Glioblastoma1CTD_human
TgeneRUNX1C0033578Prostatic Neoplasms1CTD_human
TgeneRUNX1C0349639Juvenile Myelomonocytic Leukemia1CTD_human
TgeneRUNX1C1832388Platelet Disorder, Familial, with Associated Myeloid Malignancy1CTD_human;ORPHANET;UNIPROT
TgeneRUNX1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human