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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: 16213

FusionGeneSummary for HIPK3_TOLLIP

check button Fusion gene summary
Fusion gene informationFusion gene name: HIPK3_TOLLIP
Fusion gene ID: 16213
HgeneTgene
Gene symbol

HIPK3

TOLLIP

Gene ID

10114

54472

Gene namehomeodomain interacting protein kinase 3toll interacting protein
SynonymsDYRK6|FIST3|PKY|YAK1IL-1RAcPIP
Cytomap

11p13

11p15.5

Type of geneprotein-codingprotein-coding
Descriptionhomeodomain-interacting protein kinase 3ANPKFISTandrogen receptor-interacting nuclear protein kinasefas-interacting serine/threonine-protein kinasehomolog of protein kinase YAK1toll-interacting proteinadapter protein
Modification date2018051920180523
UniProtAcc

Q9H422

Q9H0E2

Ensembl transtripts involved in fusion geneENST00000525975, ENST00000379016, 
ENST00000303296, ENST00000456517, 
ENST00000534262, 		ENST00000317204, 
ENST00000527886, ENST00000525159, 
ENST00000263646, ENST00000542915, 
ENST00000527938, ENST00000528719, 
Fusion gene scores* DoF score6 X 3 X 6=1084 X 3 X 4=48
# samples 64
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HIPK3 [Title/Abstract] AND TOLLIP [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
HgeneHIPK3

GO:0006468

protein phosphorylation

14766760

HgeneHIPK3

GO:0009299

mRNA transcription

17210646

TgeneTOLLIP

GO:0016310

phosphorylation

1085432

TgeneTOLLIP

GO:0036010

protein localization to endosome

16412388


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
TCGARVBRCATCGA-BH-A0DD-01AHIPK3chr11

33279435

+TOLLIPchr11

1317024

-
* 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-3CDSENST00000525975ENST00000317204HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000525975ENST00000527886HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000525975ENST00000525159HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000525975ENST00000263646HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000525975ENST00000542915HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000525975ENST00000527938HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000525975ENST00000528719HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-3CDSENST00000379016ENST00000317204HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-5UTRENST00000379016ENST00000527886HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-5UTRENST00000379016ENST00000525159HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000379016ENST00000263646HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000379016ENST00000542915HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000379016ENST00000527938HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000379016ENST00000528719HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-3CDSENST00000303296ENST00000317204HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-5UTRENST00000303296ENST00000527886HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-5UTRENST00000303296ENST00000525159HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000303296ENST00000263646HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000303296ENST00000542915HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000303296ENST00000527938HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
5UTR-intronENST00000303296ENST00000528719HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-3CDSENST00000456517ENST00000317204HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000456517ENST00000527886HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000456517ENST00000525159HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000456517ENST00000263646HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000456517ENST00000542915HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000456517ENST00000527938HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000456517ENST00000528719HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-3CDSENST00000534262ENST00000317204HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000534262ENST00000527886HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-5UTRENST00000534262ENST00000525159HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000534262ENST00000263646HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000534262ENST00000542915HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000534262ENST00000527938HIPK3chr11

33279435

+TOLLIPchr11

1317024

-
intron-intronENST00000534262ENST00000528719HIPK3chr11

33279435

+TOLLIPchr11

1317024

-

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FusionProtFeatures for HIPK3_TOLLIP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIPK3

Q9H422

TOLLIP

Q9H0E2

Serine/threonine-protein kinase involved intranscription regulation, apoptosis and steroidogenic geneexpression. Phosphorylates JUN and RUNX2. Seems to negativelyregulate apoptosis by promoting FADD phosphorylation. Enhancesandrogen receptor-mediated transcription. May act as atranscriptional corepressor for NK homeodomain transcriptionfactors. The phosphorylation of NR5A1 activates SF1 leading toincreased steroidogenic gene expression upon cAMP signalingpathway stimulation. In osteoblasts, supports transcriptionactivation: phosphorylates RUNX2 that synergizes with SPEN/MINT toenhance FGFR2-mediated activation of the osteocalcin FGF-responsive element (OCFRE). {ECO:0000269|PubMed:14766760,ECO:0000269|PubMed:17210646}. Component of the signaling pathway of IL-1 and Toll-likereceptors. Inhibits cell activation by microbial products.Recruits IRAK1 to the IL-1 receptor complex. Inhibits IRAK1phosphorylation and kinase activity (PubMed:11751856). Connectsthe ubiquitin pathway to autophagy by functioning as a ubiquitin-ATG8 family adapter and thus mediating autophagic clearance ofubiquitin conjugates. The TOLLIP-dependent selective autophagypathway plays an important role in clearance of cytotoxic polyQproteins aggregates (PubMed:25042851).{ECO:0000269|PubMed:11751856, ECO:0000269|PubMed:25042851}.

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 HIPK3_TOLLIP


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 HIPK3_TOLLIP


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
HIPK3TP73, TP53, SUMO1, FAS, FADD, UBE2I, CREB1, GLUL, GRB2, TRA2B, SRSF5, HNRNPA1, HNRNPA2B1, HNRNPH1, SRSF1, SIAH2, TGFB1I1, TOX4, C1QA, NR2F2, ARRB2, LIMK2, ZYX, LIMS2, SIAH1, GORASP1, HEYL, MTMR4, LIMD1, ZNF107, TRIM25TOLLIPIL1RAP, TOM1, XRN2, RBPMS, RHOXF2, DAZAP2, SEPT1, LDB1, SETDB1, ZHX1, ZBTB16, TLR2, TLR4, TOLLIP, IL1R1, IRAK1, CSN1S1, CSN2, FTH1, TBX3, BHLHE40, HERPUD1, TOM1L1, RBFOX2, N4BP2, CHD6, TOM1L2, EIF2AK2, TLR3, TLR9, ITCH, ABCB6, ANKRD13A, BIRC2, CSTF1, DIABLO, DZIP3, FAM115A, IRAK2, MAGED1, NEDD4L, NT5DC2, PEG10, RLIM, WRNIP1, XIAP, ELAVL1, RCAN1, TRAF6, MAPK14, RAC1, CAV1, UBC, ATXN1, SMAD7, TGFBR1, TRIP6, INTS4P2, SNX8, PINK1, APEH, NMI, OXR1, CYHR1, VPS29, VPS35, MAP1LC3A, SQSTM1, NBR1, DAB1, SIAH1, CPSF6, WDYHV1, PRR20A, GGA1, GGA2, GGA3, TMEM17, ODAM, XPO1, HLA-DRA, IL1RL2, WBP2, RNF26


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 HIPK3_TOLLIP


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 HIPK3_TOLLIP


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