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Fusion gene ID: 14710 |
FusionGeneSummary for GLI3_CROT |
Fusion gene summary |
Fusion gene information | Fusion gene name: GLI3_CROT | Fusion gene ID: 14710 | Hgene | Tgene | Gene symbol | GLI3 | CROT | Gene ID | 2737 | 54677 |
Gene name | GLI family zinc finger 3 | carnitine O-octanoyltransferase | |
Synonyms | ACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIV | COT | |
Cytomap | 7p14.1 | 7q21.12 | |
Type of gene | protein-coding | protein-coding | |
Description | transcriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3 | peroxisomal carnitine O-octanoyltransferaseperoxisomal carnitine acyltransferase | |
Modification date | 20180527 | 20180523 | |
UniProtAcc | P10071 | Q9UKG9 | |
Ensembl transtripts involved in fusion gene | ENST00000395925, ENST00000479210, ENST00000437480, | ENST00000419147, ENST00000412227, ENST00000331536, ENST00000442291, | |
Fusion gene scores | * DoF score | 7 X 6 X 7=294 | 2 X 2 X 2=8 |
# samples | 8 | 2 | |
** MAII score | log2(8/294*10)=-1.877744249949 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: GLI3 [Title/Abstract] AND CROT [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 | GLI3 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10693759|12435627|19084012 |
Hgene | GLI3 | GO:0045892 | negative regulation of transcription, DNA-templated | 12435627|16254602|19084012 |
Hgene | GLI3 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 17000779 |
Hgene | GLI3 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 17331723 |
Tgene | CROT | GO:0006091 | generation of precursor metabolites and energy | 10486279 |
Tgene | CROT | GO:0006635 | fatty acid beta-oxidation | 21619872 |
Tgene | CROT | GO:0051791 | medium-chain fatty acid metabolic process | 10486279 |
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 | LUSC | TCGA-77-7465-01A | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
* 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 | ENST00000395925 | ENST00000419147 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5CDS-5UTR | ENST00000395925 | ENST00000412227 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5CDS-5UTR | ENST00000395925 | ENST00000331536 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5CDS-5UTR | ENST00000395925 | ENST00000442291 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5UTR-5UTR | ENST00000479210 | ENST00000419147 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5UTR-5UTR | ENST00000479210 | ENST00000412227 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5UTR-5UTR | ENST00000479210 | ENST00000331536 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
5UTR-5UTR | ENST00000479210 | ENST00000442291 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
intron-5UTR | ENST00000437480 | ENST00000419147 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
intron-5UTR | ENST00000437480 | ENST00000412227 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
intron-5UTR | ENST00000437480 | ENST00000331536 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
intron-5UTR | ENST00000437480 | ENST00000442291 | GLI3 | chr7 | 42116351 | - | CROT | chr7 | 86975656 | + |
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FusionProtFeatures for GLI3_CROT |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
GLI3 | CROT |
Has a dual function as a transcriptional activator and arepressor of the sonic hedgehog (Shh) pathway, and plays a role inlimb development. The full-length GLI3 form (GLI3FL) afterphosphorylation and nuclear translocation, acts as an activator(GLI3A) while GLI3R, its C-terminally truncated form, acts as arepressor. A proper balance between the GLI3 activator and therepressor GLI3R, rather than the repressor gradient itself or theactivator/repressor ratio gradient, specifies limb digit numberand identity. In concert with TRPS1, plays a role in regulatingthe size of the zone of distal chondrocytes, in restricting thezone of PTHLH expression in distal cells and in activatingchondrocyte proliferation. Binds to the minimal GLI-consensussequence 5'-GGGTGGTC-3'. {ECO:0000269|PubMed:10693759,ECO:0000269|PubMed:11238441, ECO:0000269|PubMed:17764085}. | Beta-oxidation of fatty acids. The highest activityconcerns the C6 to C10 chain length substrate. Converts the endproduct of pristanic acid beta oxidation, 4,8-dimethylnonanoyl-CoA, to its corresponding carnitine ester.{ECO:0000269|PubMed:10486279}. |
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 GLI3_CROT |
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 GLI3_CROT |
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 |
GLI3 | CREBBP, SUFU, ZIC1, ZIC2, ZIC3, STK36, SAP18, MED12, BTRC, SKI, HDAC1, PRKCA, CSNK1A1, GSK3A, SOX2, FBXW11, KRAS, SMAD1, USP7, SPOP, RHOU, CELA1, THSD4, RCCD1, CEP44, KLHL7 | CROT | DSTN, PEX5, ALB, VWA9, EIF2AK4, KLHDC4, USP25, CD36, FBP1, GATAD2B |
- 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 GLI3_CROT |
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 |
Tgene | CROT | Q9UKG9 | DB00583 | L-Carnitine | Peroxisomal carnitine O-octanoyltransferase | small molecule | approved|investigational |
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RelatedDiseases for GLI3_CROT |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GLI3 | C0265306 | Greig cephalopolysyndactyly syndrome | 8 | CTD_human;ORPHANET;UNIPROT |
Hgene | GLI3 | C0265220 | Pallister-Hall syndrome | 2 | CTD_human;ORPHANET |
Hgene | GLI3 | C0027794 | Neural Tube Defects | 1 | CTD_human |
Hgene | GLI3 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | GLI3 | C0152427 | Polydactyly | 1 | CTD_human |
Hgene | GLI3 | C0162835 | Hypopigmentation disorder | 1 | CTD_human |
Hgene | GLI3 | C3887487 | Postaxial polydactyly type A | 1 | UNIPROT |
Tgene | CROT | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |