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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: 28251

FusionGeneSummary for PPM1H_DYRK2

check button Fusion gene summary
Fusion gene informationFusion gene name: PPM1H_DYRK2
Fusion gene ID: 28251
HgeneTgene
Gene symbol

PPM1H

DYRK2

Gene ID

57460

8445

Gene nameprotein phosphatase, Mg2+/Mn2+ dependent 1Hdual specificity tyrosine phosphorylation regulated kinase 2
SynonymsARHCL1|NERPP-2C|URCC2-
Cytomap

12q14.1-q14.2

12q15

Type of geneprotein-codingprotein-coding
Descriptionprotein phosphatase 1Hneurite extension-related protein phosphatase related to PP2Cprotein phosphatase 1H (PP2C domain containing)ras homolog gene family, member C like 1dual specificity tyrosine-phosphorylation-regulated kinase 2dual specificity tyrosine-(Y)-phosphorylation regulated kinase 2
Modification date2018051920180522
UniProtAcc

Q9ULR3

Q92630

Ensembl transtripts involved in fusion geneENST00000228705, ENST00000551214, 
ENST00000344096, ENST00000393555, 
ENST00000537632, 
Fusion gene scores* DoF score16 X 11 X 8=14087 X 4 X 6=168
# samples 1610
** MAII scorelog2(16/1408*10)=-3.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/168*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPM1H [Title/Abstract] AND DYRK2 [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
TgeneDYRK2

GO:0006468

protein phosphorylation

11311121

TgeneDYRK2

GO:0042771

intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

17349958

TgeneDYRK2

GO:0045725

positive regulation of glycogen biosynthetic process

11311121


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
TCGARVPAADTCGA-HZ-A49I-01APPM1Hchr12

63182006

-DYRK2chr12

68050886

+
* 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
Frame-shiftENST00000228705ENST00000344096PPM1Hchr12

63182006

-DYRK2chr12

68050886

+
5CDS-5UTRENST00000228705ENST00000393555PPM1Hchr12

63182006

-DYRK2chr12

68050886

+
5CDS-intronENST00000228705ENST00000537632PPM1Hchr12

63182006

-DYRK2chr12

68050886

+
intron-3CDSENST00000551214ENST00000344096PPM1Hchr12

63182006

-DYRK2chr12

68050886

+
intron-5UTRENST00000551214ENST00000393555PPM1Hchr12

63182006

-DYRK2chr12

68050886

+
intron-intronENST00000551214ENST00000537632PPM1Hchr12

63182006

-DYRK2chr12

68050886

+

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FusionProtFeatures for PPM1H_DYRK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PPM1H

Q9ULR3

DYRK2

Q92630

Dephosphorylates CDKN1B at 'Thr-187', thus removing asignal for proteasomal degradation. {ECO:0000269|PubMed:22586611}. Serine/threonine-protein kinase involved in theregulation of the mitotic cell cycle, cell proliferation,apoptosis, organization of the cytoskeleton and neurite outgrowth.Functions in part via its role in ubiquitin-dependent proteasomalprotein degradation. Functions downstream of ATM andphosphorylates p53/TP53 at 'Ser-46', and thereby contributes tothe induction of apoptosis in response to DNA damage.Phosphorylates NFATC1, and thereby inhibits its accumulation inthe nucleus and its transcription factor activity. PhosphorylatesEIF2B5 at 'Ser-544', enabling its subsequent phosphorylation andinhibition by GSK3B. Likewise, phosphorylation of NFATC1,CRMP2/DPYSL2 and CRMP4/DPYSL3 promotes their subsequentphosphorylation by GSK3B. May play a general role in the primingof GSK3 substrates. Inactivates GYS1 by phosphorylation at 'Ser-641', and potentially also a second phosphorylation site, thusregulating glycogen synthesis. Mediates EDVP E3 ligase complexformation and is required for the phosphorylation and subsequentdegradation of KATNA1. Phosphorylates TERT at 'Ser-457', promotingTERT ubiquitination by the EDVP complex. Phosphorylates SIAH2, andthereby increases its ubiquitin ligase activity. Promotes theproteasomal degradation of MYC and JUN, and thereby regulatesprogress through the mitotic cell cycle and cell proliferation.Promotes proteasomal degradation of GLI2 and GLI3, and therebyplays a role in smoothened and sonic hedgehog signaling. Plays arole in cytoskeleton organization and neurite outgrowth via itsphosphorylation of DCX and DPYSL2. Phosphorylates CRMP2/DPYSL2,CRMP4/DPYSL3, DCX, EIF2B5, EIF4EBP1, GLI2, GLI3, GYS1, JUN, MDM2,MYC, NFATC1, p53/TP53, TAU/MAPT and KATNA1. Can phosphorylatehistone H1, histone H3 and histone H2B (in vitro). Canphosphorylate CARHSP1 (in vitro). {ECO:0000269|PubMed:11311121,ECO:0000269|PubMed:12588975, ECO:0000269|PubMed:14593110,ECO:0000269|PubMed:15910284, ECO:0000269|PubMed:16511445,ECO:0000269|PubMed:16611631, ECO:0000269|PubMed:17349958,ECO:0000269|PubMed:18455992, ECO:0000269|PubMed:18599021,ECO:0000269|PubMed:19287380, ECO:0000269|PubMed:22307329,ECO:0000269|PubMed:22878263, ECO:0000269|PubMed:23362280,ECO:0000269|PubMed:9748265}.

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 PPM1H_DYRK2


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 PPM1H_DYRK2


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
PPM1HYWHAB, MOV10, NXF1, BLM, PPM1J, YWHAE, YWHAG, YWHAH, YWHAQ, YWHAZ, SLC12A4, LNPEP, IGF2R, STX16, ARHGAP1, MIOS, CPD, TPD52, TPD52L2, WDR11, FAM91A1, GOLGA4, VAMP2, SLC6A15, LMAN1, VAMP3, TSC1, TMF1, SCAMP1, PGRMC2, ITGB1, KCTD3, KIF13B, ZBTB21, KSR1, GIGYF1, LRFN1, CGN, DENND1A, SH3PXD2A, SRGAP2, RTKN, MAST3, EIF4E2, SIPA1L1, DENND4C, LIMA1, MAGI1, TESK2, DCLK1, ZNF638, MAPKAP1, HDAC4, NF1, SRSF12, CBY1, LPIN3, SYDE1, AGAP1, CDC25B, CDK16, CDC25C, NADK, GIGYF2, FAM110B, CAMSAP2, USP21, ANKRD34A, FAM53C, KIAA1804, TIAM1, RASAL2, RALGPS2, PHLDB2, SH3RF3, PLEKHA7, FAM110A, KIF1C, NAV1, GAB2, TANC2, MELK, PTPN13, OSBPL6, DENND4A, PTPN14, STARD13, RPTOR, DEPDC1B, HDAC7, LARP1, TBC1D25, PLEKHA5, RAB11FIP2, INPP5EDYRK2RAD54B, DCAF7, ATM, MDM2, UBR5, DDB1, VPRBP, HSPA5, HSPA1A, HSPA1B, HSPA8, DLST, XPNPEP3, RPS2, PDHB, RPL7, RPL4, HNRNPU, SSBP2, TUBA1C, RPLP0, NPM1, EEF1A1P5, SLC25A3, RPL7A, HSP90AA1, DAP3, TUBA3C, RBMXL2, RPA1, PCMT1, HSPA6, RPL18, KATNA1, SIAH2, APP, TERT, DYRK4, TTN, RB1CC1, NR1I2, SP100, IKZF1, KXD1, LZTS2, ZBTB9, WDR62, UBE2D1, DCAF5, TBK1, MOAP1, RNF8, RTN1, AKAP12, STK4, SAV1, KIF3C, KIF3B, CEP78, CCP110


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 PPM1H_DYRK2


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 PPM1H_DYRK2


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