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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: 14710

FusionGeneSummary for GLI3_CROT

check button Fusion gene summary
Fusion gene informationFusion gene name: GLI3_CROT
Fusion gene ID: 14710
HgeneTgene
Gene symbol

GLI3

CROT

Gene ID

2737

54677

Gene nameGLI family zinc finger 3carnitine O-octanoyltransferase
SynonymsACLS|GCPS|GLI3-190|GLI3FL|PAP-A|PAPA|PAPA1|PAPB|PHS|PPDIVCOT
Cytomap

7p14.1

7q21.12

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional activator GLI3GLI-Kruppel family member GLI3glioma-associated oncogene family zinc finger 3oncogene GLI3zinc finger protein GLI3peroxisomal carnitine O-octanoyltransferaseperoxisomal carnitine acyltransferase
Modification date2018052720180523
UniProtAcc

P10071

Q9UKG9

Ensembl transtripts involved in fusion geneENST00000395925, ENST00000479210, 
ENST00000437480, 
ENST00000419147, 
ENST00000412227, ENST00000331536, 
ENST00000442291, 
Fusion gene scores* DoF score7 X 6 X 7=2942 X 2 X 2=8
# samples 82
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneGLI3

GO:0000122

negative regulation of transcription by RNA polymerase II

10693759|12435627|19084012

HgeneGLI3

GO:0045892

negative regulation of transcription, DNA-templated

12435627|16254602|19084012

HgeneGLI3

GO:0045944

positive regulation of transcription by RNA polymerase II

17000779

HgeneGLI3

GO:0090090

negative regulation of canonical Wnt signaling pathway

17331723

TgeneCROT

GO:0006091

generation of precursor metabolites and energy

10486279

TgeneCROT

GO:0006635

fatty acid beta-oxidation

21619872

TgeneCROT

GO:0051791

medium-chain fatty acid metabolic process

10486279


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
TCGARVLUSCTCGA-77-7465-01AGLI3chr7

42116351

-CROTchr7

86975656

+
* 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-5UTRENST00000395925ENST00000419147GLI3chr7

42116351

-CROTchr7

86975656

+
5CDS-5UTRENST00000395925ENST00000412227GLI3chr7

42116351

-CROTchr7

86975656

+
5CDS-5UTRENST00000395925ENST00000331536GLI3chr7

42116351

-CROTchr7

86975656

+
5CDS-5UTRENST00000395925ENST00000442291GLI3chr7

42116351

-CROTchr7

86975656

+
5UTR-5UTRENST00000479210ENST00000419147GLI3chr7

42116351

-CROTchr7

86975656

+
5UTR-5UTRENST00000479210ENST00000412227GLI3chr7

42116351

-CROTchr7

86975656

+
5UTR-5UTRENST00000479210ENST00000331536GLI3chr7

42116351

-CROTchr7

86975656

+
5UTR-5UTRENST00000479210ENST00000442291GLI3chr7

42116351

-CROTchr7

86975656

+
intron-5UTRENST00000437480ENST00000419147GLI3chr7

42116351

-CROTchr7

86975656

+
intron-5UTRENST00000437480ENST00000412227GLI3chr7

42116351

-CROTchr7

86975656

+
intron-5UTRENST00000437480ENST00000331536GLI3chr7

42116351

-CROTchr7

86975656

+
intron-5UTRENST00000437480ENST00000442291GLI3chr7

42116351

-CROTchr7

86975656

+

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FusionProtFeatures for GLI3_CROT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GLI3

P10071

CROT

Q9UKG9

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}.

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 GLI3_CROT


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 GLI3_CROT


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
GLI3CREBBP, SUFU, ZIC1, ZIC2, ZIC3, STK36, SAP18, MED12, BTRC, SKI, HDAC1, PRKCA, CSNK1A1, GSK3A, SOX2, FBXW11, KRAS, SMAD1, USP7, SPOP, RHOU, CELA1, THSD4, RCCD1, CEP44, KLHL7CROTDSTN, PEX5, ALB, VWA9, EIF2AK4, KLHDC4, USP25, CD36, FBP1, GATAD2B


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 GLI3_CROT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCROTQ9UKG9DB00583L-CarnitinePeroxisomal carnitine O-octanoyltransferasesmall moleculeapproved|investigational

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RelatedDiseases for GLI3_CROT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGLI3C0265306Greig cephalopolysyndactyly syndrome8CTD_human;ORPHANET;UNIPROT
HgeneGLI3C0265220Pallister-Hall syndrome2CTD_human;ORPHANET
HgeneGLI3C0027794Neural Tube Defects1CTD_human
HgeneGLI3C0038356Stomach Neoplasms1CTD_human
HgeneGLI3C0152427Polydactyly1CTD_human
HgeneGLI3C0162835Hypopigmentation disorder1CTD_human
HgeneGLI3C3887487Postaxial polydactyly type A1UNIPROT
TgeneCROTC0023893Liver Cirrhosis, Experimental1CTD_human