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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: 14708

FusionGeneSummary for GLI2_SPOP

check button Fusion gene summary
Fusion gene informationFusion gene name: GLI2_SPOP
Fusion gene ID: 14708
HgeneTgene
Gene symbol

GLI2

SPOP

Gene ID

2736

8405

Gene nameGLI family zinc finger 2speckle type BTB/POZ protein
SynonymsCJS|HPE9|PHS2|THP1|THP2BTBD32|TEF2
Cytomap

2q14.2

17q21.33

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein GLI2GLI family zinc finger protein 2GLI-Kruppel family member GLI2glioma-associated oncogene family zinc finger 2oncogene GLI2tax helper protein 1tax helper protein 2tax-responsive element-2 holding proteintax-responsive elemenspeckle-type POZ proteinHIB homolog 1roadkill homolog 1
Modification date2018052020180523
UniProtAcc

P10070

O43791

Ensembl transtripts involved in fusion geneENST00000452319, ENST00000314490, 
ENST00000361492, ENST00000435313, 
ENST00000393328, ENST00000393331, 
ENST00000347630, ENST00000504102, 
ENST00000503676, ENST00000513080, 
Fusion gene scores* DoF score2 X 2 X 1=49 X 4 X 5=180
# samples 28
** MAII scorelog2(2/4*10)=2.32192809488736log2(8/180*10)=-1.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GLI2 [Title/Abstract] AND SPOP [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
HgeneGLI2

GO:0007224

smoothened signaling pathway

15994174

HgeneGLI2

GO:0008283

cell proliferation

15994174

HgeneGLI2

GO:0045740

positive regulation of DNA replication

12165851

HgeneGLI2

GO:0045893

positive regulation of transcription, DNA-templated

15175043

HgeneGLI2

GO:0045944

positive regulation of transcription by RNA polymerase II

12165851|15994174


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
TCGARVSARCTCGA-DX-A6YV-01AGLI2chr2

121685042

+SPOPchr17

47700238

-
* 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
5CDS-5UTRENST00000452319ENST00000393328GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000452319ENST00000393331GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000452319ENST00000347630GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000452319ENST00000504102GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000452319ENST00000503676GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000452319ENST00000513080GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000393328GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000393331GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000347630GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000504102GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000503676GLI2chr2

121685042

+SPOPchr17

47700238

-
5UTR-5UTRENST00000314490ENST00000513080GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000393328GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000393331GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000347630GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000504102GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000503676GLI2chr2

121685042

+SPOPchr17

47700238

-
5CDS-5UTRENST00000361492ENST00000513080GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000393328GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000393331GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000347630GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000504102GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000503676GLI2chr2

121685042

+SPOPchr17

47700238

-
3UTR-5UTRENST00000435313ENST00000513080GLI2chr2

121685042

+SPOPchr17

47700238

-

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FusionProtFeatures for GLI2_SPOP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GLI2

P10070

SPOP

O43791

Functions as transcription regulator in the hedgehog(Hh) pathway (PubMed:18455992, PubMed:26565916). Functions astranscriptional activator (PubMed:9557682, PubMed:19878745,PubMed:24311597). May also function as transcriptional repressor(By similarity). Requires STK36 for full transcriptional activatoractivity. Required for normal embryonic development(PubMed:15994174, PubMed:20685856). {ECO:0000250|UniProtKB:Q0VGT2,ECO:0000269|PubMed:15994174, ECO:0000269|PubMed:18455992,ECO:0000269|PubMed:19878745, ECO:0000269|PubMed:24311597,ECO:0000269|PubMed:26565916, ECO:0000269|PubMed:9557682,ECO:0000305|PubMed:20685856}. Isoform 1, isoform 2, isoform 3 and isoform 4: Act astranscriptional activators in T-cell leukemia virus type 1 (HTLV-1)-infected cells in a Tax-dependent manner. Bind to the DNAsequence 5'-GAACCACCCA-3' which is part of the Tax-responsiveelement (TRE-2S) regulatory element that augments the Tax-dependent enhancer of HTLV-1 (PubMed:9557682). Are involved in thesmoothened (SHH) signaling pathway (PubMed:18455992).{ECO:0000269|PubMed:15994174, ECO:0000269|PubMed:18455992,ECO:0000269|PubMed:9557682}. Isoform 5: Acts as a transcriptional repressor.{ECO:0000269|PubMed:15994174}. Component of a cullin-RING-based BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex that mediates the ubiquitinationof target proteins, leading most often to their proteasomaldegradation. In complex with CUL3, involved in ubiquitination andproteasomal degradation of BRMS1, DAXX, PDX1/IPF1, GLI2 and GLI3.In complex with CUL3, involved in ubiquitination of H2AFY andBMI1; this does not lead to their proteasomal degradation.Inhibits transcriptional activation of PDX1/IPF1 targets, such asinsulin, by promoting PDX1/IPF1 degradation. The cullin-RING-basedBCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containinghomodimeric SPOP has higher ubiquitin ligase activity than thecomplex that contains the heterodimer formed by SPOP and SPOPL.{ECO:0000269|PubMed:14528312, ECO:0000269|PubMed:15897469,ECO:0000269|PubMed:16524876, ECO:0000269|PubMed:19818708,ECO:0000269|PubMed:22085717, ECO:0000269|PubMed:22632832}.

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 GLI2_SPOP


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 GLI2_SPOP


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
GLI2CREB1, SUFU, ZIC1, ZIC2, STK36, HDAC1, SKI, SPOP, USP7, CUL3, USP21SPOPZBTB16, DPPA2, RXRB, DDIT3, RTN3, MYD88, SIRT2, DOK2, KPNA6, GDI1, PIP5K1B, TRAF1, TRAF6, AR, BMI1, NCOA3, CUL3, ESR1, DAXX, SPOP, PIP4K2B, UBE2E3, FADD, PIAS1, GIT2, SRRM1, ATM, GLI2, DEK, BRMS1, NUP50, RTN4, GCC1, ERG, ERF, PGR, GLI3, UBE2D1, UBE2D2, NANOG, PTEN, DUSP7, EGLN2, RFWD2, SOST, ARIH1, MSRB3, BRD4, BRD3, BRD2


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 GLI2_SPOP


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 GLI2_SPOP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGLI2C4014479CULLER-JONES SYNDROME2ORPHANET;UNIPROT
HgeneGLI2C0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneGLI2C0004779Basal Cell Nevus Syndrome1CTD_human
HgeneGLI2C0007117Basal cell carcinoma1CTD_human
HgeneGLI2C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneGLI2C0037286Skin Neoplasms1CTD_human
HgeneGLI2C1835819PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)1CTD_human;UNIPROT
TgeneSPOPC0014170Endometrial Neoplasms1CTD_human
TgeneSPOPC0033578Prostatic Neoplasms1CTD_human