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Fusion gene ID: 14708 |
FusionGeneSummary for GLI2_SPOP |
Fusion gene summary |
Fusion gene information | Fusion gene name: GLI2_SPOP | Fusion gene ID: 14708 | Hgene | Tgene | Gene symbol | GLI2 | SPOP | Gene ID | 2736 | 8405 |
Gene name | GLI family zinc finger 2 | speckle type BTB/POZ protein | |
Synonyms | CJS|HPE9|PHS2|THP1|THP2 | BTBD32|TEF2 | |
Cytomap | 2q14.2 | 17q21.33 | |
Type of gene | protein-coding | protein-coding | |
Description | zinc 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 elemen | speckle-type POZ proteinHIB homolog 1roadkill homolog 1 | |
Modification date | 20180520 | 20180523 | |
UniProtAcc | P10070 | O43791 | |
Ensembl transtripts involved in fusion gene | ENST00000452319, ENST00000314490, ENST00000361492, ENST00000435313, | ENST00000393328, ENST00000393331, ENST00000347630, ENST00000504102, ENST00000503676, ENST00000513080, | |
Fusion gene scores | * DoF score | 2 X 2 X 1=4 | 9 X 4 X 5=180 |
# samples | 2 | 8 | |
** MAII score | log2(2/4*10)=2.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | GLI2 | GO:0007224 | smoothened signaling pathway | 15994174 |
Hgene | GLI2 | GO:0008283 | cell proliferation | 15994174 |
Hgene | GLI2 | GO:0045740 | positive regulation of DNA replication | 12165851 |
Hgene | GLI2 | GO:0045893 | positive regulation of transcription, DNA-templated | 15175043 |
Hgene | GLI2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12165851|15994174 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-DX-A6YV-01A | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000452319 | ENST00000393328 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000452319 | ENST00000393331 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000452319 | ENST00000347630 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000452319 | ENST00000504102 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000452319 | ENST00000503676 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000452319 | ENST00000513080 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000393328 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000393331 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000347630 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000504102 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000503676 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5UTR-5UTR | ENST00000314490 | ENST00000513080 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000393328 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000393331 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000347630 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000504102 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000503676 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
5CDS-5UTR | ENST00000361492 | ENST00000513080 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000393328 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000393331 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000347630 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000504102 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000503676 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
3UTR-5UTR | ENST00000435313 | ENST00000513080 | GLI2 | chr2 | 121685042 | + | SPOP | chr17 | 47700238 | - |
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FusionProtFeatures for GLI2_SPOP |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GLI2 | SPOP |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for GLI2_SPOP |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
GLI2 | CREB1, SUFU, ZIC1, ZIC2, STK36, HDAC1, SKI, SPOP, USP7, CUL3, USP21 | SPOP | ZBTB16, 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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GLI2_SPOP |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GLI2_SPOP |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GLI2 | C4014479 | CULLER-JONES SYNDROME | 2 | ORPHANET;UNIPROT |
Hgene | GLI2 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
Hgene | GLI2 | C0004779 | Basal Cell Nevus Syndrome | 1 | CTD_human |
Hgene | GLI2 | C0007117 | Basal cell carcinoma | 1 | CTD_human |
Hgene | GLI2 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Hgene | GLI2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | GLI2 | C1835819 | PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) | 1 | CTD_human;UNIPROT |
Tgene | SPOP | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
Tgene | SPOP | C0033578 | Prostatic Neoplasms | 1 | CTD_human |