FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 16208

FusionGeneSummary for HIPK2_TMEM130

check button Fusion gene summary
Fusion gene informationFusion gene name: HIPK2_TMEM130
Fusion gene ID: 16208
HgeneTgene
Gene symbol

HIPK2

TMEM130

Gene ID

28996

222865

Gene namehomeodomain interacting protein kinase 2transmembrane protein 130
SynonymsPRO0593-
Cytomap

7q34

7q22.1

Type of geneprotein-codingprotein-coding
Descriptionhomeodomain-interacting protein kinase 2hHIPk2transmembrane protein 130
Modification date2018052220180523
UniProtAcc

Q9H2X6

Q8N3G9

Ensembl transtripts involved in fusion geneENST00000406875, ENST00000428878, 
ENST00000342645, 
ENST00000416379, 
ENST00000339375, ENST00000450876, 
ENST00000474857, ENST00000345589, 
ENST00000546258, 
Fusion gene scores* DoF score11 X 7 X 9=6932 X 2 X 2=8
# samples 122
** MAII scorelog2(12/693*10)=-2.5298209465287
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: HIPK2 [Title/Abstract] AND TMEM130 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneHIPK2

GO:0006468

protein phosphorylation

19448668

HgeneHIPK2

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

14647468

HgeneHIPK2

GO:0045766

positive regulation of angiogenesis

19046997

HgeneHIPK2

GO:0060395

SMAD protein signal transduction

12874272


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
TCGARVBLCATCGA-GC-A3YS-01AHIPK2chr7

139305147

-TMEM130chr7

98461023

-
* 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-shiftENST00000406875ENST00000416379HIPK2chr7

139305147

-TMEM130chr7

98461023

-
Frame-shiftENST00000406875ENST00000339375HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-5UTRENST00000406875ENST00000450876HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000406875ENST00000474857HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000406875ENST00000345589HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000406875ENST00000546258HIPK2chr7

139305147

-TMEM130chr7

98461023

-
Frame-shiftENST00000428878ENST00000416379HIPK2chr7

139305147

-TMEM130chr7

98461023

-
Frame-shiftENST00000428878ENST00000339375HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-5UTRENST00000428878ENST00000450876HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000428878ENST00000474857HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000428878ENST00000345589HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000428878ENST00000546258HIPK2chr7

139305147

-TMEM130chr7

98461023

-
Frame-shiftENST00000342645ENST00000416379HIPK2chr7

139305147

-TMEM130chr7

98461023

-
Frame-shiftENST00000342645ENST00000339375HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-5UTRENST00000342645ENST00000450876HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000342645ENST00000474857HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000342645ENST00000345589HIPK2chr7

139305147

-TMEM130chr7

98461023

-
5CDS-intronENST00000342645ENST00000546258HIPK2chr7

139305147

-TMEM130chr7

98461023

-

Top

FusionProtFeatures for HIPK2_TMEM130


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HIPK2

Q9H2X6

TMEM130

Q8N3G9

Serine/threonine-protein kinase involved intranscription regulation, p53/TP53-mediated cellular apoptosis andregulation of the cell cycle. Acts as a corepressor of severaltranscription factors, including SMAD1 and POU4F1/Brn3a andprobably NK homeodomain transcription factors. PhosphorylatesPDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300,CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotesapoptosis through the activation of p53/TP53 both at thetranscription level and at the protein level (by phosphorylationand indirect acetylation). The phosphorylation of p53/TP53 may bemediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in theresponse to hypoxia by acting as a transcriptional co-suppressorof HIF1A. Mediates transcriptional activation of TP73. In responseto TGFB, cooperates with DAXX to activate JNK. Negative regulatorthrough phosphorylation and subsequent proteasomal degradation ofCTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-cateninsignaling pathway acts as an intermediate kinase betweenMAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB.Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcriptionfactors by phosphorylation in response to genotoxic stress. Inresponse to DNA damage, stabilizes PML by phosphorylation. PML,HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involvedin erythroid differentiation, especially during fetal livererythropoiesis. Phosphorylation of RUNX1 and EP300 stimulatesEP300 transcription regulation activity. Triggers ZBTB4 proteindegradation in response to DNA damage. Modulates HMGA1 DNA-bindingaffinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in theregulation of eye size, lens formation and retinal laminationduring late embryogenesis. {ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404,ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985,ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875,ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579,ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997,ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497,ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728,ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925,ECO:0000269|PubMed:22825850}.

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


Top

FusionGeneSequence for HIPK2_TMEM130


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).

Top

FusionGenePPI for HIPK2_TMEM130


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
HIPK2DAXX, SP100, UBE2I, SUMO1, SKI, SMAD1, SMAD2, SMAD3, TP53INP1, TP53, CREBBP, RANBP9, NKX2-1, TRADD, TP73, TP63, FBXW7, BTRC, CUL1, MYB, RUNX1, EP300, HIPK2, NLK, MAP3K7, MYBL1, MYBL2, WSB1, SIAH1P1, SIAH1, SIAH2, CXCL1, AXIN1, HIST2H2BE, SENP2, SENP1, FBXO3, PML, CBX4, PAX6, CHMP4B, DCAF7, DYRK1A, DYRK1B, MAP3K1, MDM2, ZBTB4, MECP2, MBP, MKNK1, AATF, XAF1, SUMO2, SUMO3, RGMA, ABL1, PARP1, HSPA1A, STUB1, LZTS2, ACTBL2, TRIM25TMEM130


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


Top

RelatedDrugs for HIPK2_TMEM130


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

Top

RelatedDiseases for HIPK2_TMEM130


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