Fusion genes
(updated 2016) | DUSP1 (5q35.1) / GLI3 (7p14.1) | GLI3 (7p14.1) / FAM3B (21q22.3) | GLI3 (7p14.1) / GLI3 (7p14.1) |
| |
GLI3 (7p14.1) / HIBADH (7p15.2) | GLI3 (7p14.1) / MRPL48 (11q13.4) | GLI3 (7p14.1) / SUGCT (7p14.1) |
| |
GLI3 (7p14.1) / TMEM243 (7q21.12) | GLI3 7p14.1 C7orf10 | GLI3 7p14.1 C7orf23 |
| |
GLI3 7p14.1 / HIBADH 7p15.2 |
| Nomenclature |
|---|
| HGNC (Hugo) | GLI3 4319 |
| Cards |
|---|
| Entrez_Gene (NCBI) | GLI3 2737 GLI family zinc finger 3 |
| Aliases | ACLS; GCPS; GLI3-190; GLI3FL; |
| PAP-A; PAPA; PAPA1; PAPB; PHS; PPDIV |
| GeneCards (Weizmann) | GLI3 |
| Ensembl hg19 (Hinxton) | ENSG00000106571 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000106571 [Gene_View] chr7:41960950-42237019 [Contig_View] GLI3 [Vega] |
| ICGC DataPortal | ENSG00000106571 |
| TCGA cBioPortal | GLI3 |
| AceView (NCBI) | GLI3 |
| Genatlas (Paris) | GLI3 |
| WikiGenes | 2737 |
| SOURCE (Princeton) | GLI3 |
| Genetics Home Reference (NIH) | GLI3 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | GLI3 - chr7:41960950-42237019 - 7p14.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | GLI3 - 7p14.1 [Description] (hg19-Feb_2009) |
| Ensembl | GLI3 - 7p14.1 [CytoView hg19] GLI3 - 7p14.1 [CytoView hg38] |
| Mapping of homologs : NCBI | GLI3 [Mapview hg19] GLI3 [Mapview hg38] |
| OMIM | 146510 165240 174200 174700 175700 189960 241800 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AA330409 AI863961 AK299299 AK308429 BC032660 |
| RefSeq transcript (Entrez) | NM_000168 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | GLI3 |
| Cluster EST : Unigene | Hs.21509 [ NCBI ] |
| CGAP (NCI) | Hs.21509 |
| Alternative Splicing Gallery | ENSG00000106571 |
| Gene Expression | GLI3 [ NCBI-GEO ] GLI3 [ EBI - ARRAY_EXPRESS ]
GLI3 [ SEEK ] GLI3 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | GLI3 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 2737 |
| GTEX Portal (Tissue expression) | GLI3 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P10071 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P10071 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P10071 |
| Splice isoforms : SwissVar | P10071 |
| PhosPhoSitePlus | P10071 |
| Domaine pattern : Prosite (Expaxy) | ZINC_FINGER_C2H2_1 (PS00028) ZINC_FINGER_C2H2_2 (PS50157) |
| Domains : Interpro (EBI) | GLI3 Znf_C2H2 Znf_C2H2-like Znf_C2H2/integrase_DNA-bd |
| Domain families : Pfam (Sanger) | |
| Domain families : Pfam (NCBI) | |
| Domain families : Smart (EMBL) | ZnF_C2H2 (SM00355) |
| Conserved Domain (NCBI) | GLI3 |
| DMDM Disease mutations | 2737 |
| Blocks (Seattle) | GLI3 |
| PDB (SRS) | 4BLD |
| PDB (PDBSum) | 4BLD |
| PDB (IMB) | 4BLD |
| PDB (RSDB) | 4BLD |
| Structural Biology KnowledgeBase | 4BLD |
| SCOP (Structural Classification of Proteins) | 4BLD |
| CATH (Classification of proteins structures) | 4BLD |
| Superfamily | P10071 |
| Human Protein Atlas | ENSG00000106571 |
| Peptide Atlas | P10071 |
| HPRD | 01313 |
| IPI | IPI00018889 IPI00925202 IPI00925084 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P10071 |
| IntAct (EBI) | P10071 |
| FunCoup | ENSG00000106571 |
| BioGRID | GLI3 |
| STRING (EMBL) | GLI3 |
| ZODIAC | GLI3 |
| Ontologies - Pathways |
|---|
| QuickGO | P10071 |
| Ontology : AmiGO | negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding metanephros development branching involved in ureteric bud morphogenesis in utero embryonic development positive regulation of neuroblast proliferation chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol cytosol cilium axoneme transcription from RNA polymerase II promoter smoothened signaling pathway axon guidance hindgut morphogenesis heart development beta-catenin binding negative regulation of cell proliferation anterior/posterior pattern specification proximal/distal pattern formation protein processing mediator complex nuclear speck transcriptional repressor complex optic nerve morphogenesis hippocampus development smoothened signaling pathway involved in ventral spinal cord interneuron specification smoothened signaling pathway involved in spinal cord motor neuron cell fate specification forebrain dorsal/ventral pattern formation layer formation in cerebral cortex forebrain radial glial cell differentiation lateral ganglionic eminence cell proliferation melanocyte differentiation lung development positive regulation of chondrocyte differentiation T cell differentiation in thymus histone acetyltransferase binding limb morphogenesis wound healing positive regulation of protein import into nucleus odontogenesis of dentin-containing tooth embryonic digit morphogenesis histone deacetylase binding negative regulation of apoptotic process nose morphogenesis tongue development response to estrogen negative thymic T cell selection negative regulation of neuron differentiation positive regulation of osteoblast differentiation negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter positive regulation of alpha-beta T cell differentiation negative regulation of alpha-beta T cell differentiation metal ion binding embryonic digestive tract morphogenesis embryonic digestive tract development developmental growth camera-type eye morphogenesis embryonic skeletal system morphogenesis oligodendrocyte differentiation palate development frontal suture morphogenesis lambdoid suture morphogenesis sagittal suture morphogenesis mammary gland specification smoothened signaling pathway involved in dorsal/ventral neural tube patterning artery development anterior semicircular canal development lateral semicircular canal development cell differentiation involved in kidney development thymocyte apoptotic process negative regulation of canonical Wnt signaling pathway ciliary tip ciliary base regulation of bone development |
| Ontology : EGO-EBI | negative regulation of transcription from RNA polymerase II promoter RNA polymerase II regulatory region sequence-specific DNA binding RNA polymerase II core promoter proximal region sequence-specific DNA binding transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding metanephros development branching involved in ureteric bud morphogenesis in utero embryonic development positive regulation of neuroblast proliferation chromatin binding transcription factor activity, sequence-specific DNA binding protein binding nucleus nucleoplasm cytoplasm cytosol cytosol cilium axoneme transcription from RNA polymerase II promoter smoothened signaling pathway axon guidance hindgut morphogenesis heart development beta-catenin binding negative regulation of cell proliferation anterior/posterior pattern specification proximal/distal pattern formation protein processing mediator complex nuclear speck transcriptional repressor complex optic nerve morphogenesis hippocampus development smoothened signaling pathway involved in ventral spinal cord interneuron specification smoothened signaling pathway involved in spinal cord motor neuron cell fate specification forebrain dorsal/ventral pattern formation layer formation in cerebral cortex forebrain radial glial cell differentiation lateral ganglionic eminence cell proliferation melanocyte differentiation lung development positive regulation of chondrocyte differentiation T cell differentiation in thymus histone acetyltransferase binding limb morphogenesis wound healing positive regulation of protein import into nucleus odontogenesis of dentin-containing tooth embryonic digit morphogenesis histone deacetylase binding negative regulation of apoptotic process nose morphogenesis tongue development response to estrogen negative thymic T cell selection negative regulation of neuron differentiation positive regulation of osteoblast differentiation negative regulation of smoothened signaling pathway negative regulation of transcription, DNA-templated positive regulation of transcription, DNA-templated positive regulation of transcription from RNA polymerase II promoter positive regulation of transcription from RNA polymerase II promoter positive regulation of alpha-beta T cell differentiation negative regulation of alpha-beta T cell differentiation metal ion binding embryonic digestive tract morphogenesis embryonic digestive tract development developmental growth camera-type eye morphogenesis embryonic skeletal system morphogenesis oligodendrocyte differentiation palate development frontal suture morphogenesis lambdoid suture morphogenesis sagittal suture morphogenesis mammary gland specification smoothened signaling pathway involved in dorsal/ventral neural tube patterning artery development anterior semicircular canal development lateral semicircular canal development cell differentiation involved in kidney development thymocyte apoptotic process negative regulation of canonical Wnt signaling pathway ciliary tip ciliary base regulation of bone development |
| Pathways : BIOCARTA | Sonic Hedgehog (Shh) Pathway [Genes] |
| Pathways : KEGG | Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma |
| NDEx Network | GLI3 |
| Atlas of Cancer Signalling Network | GLI3 |
| Wikipedia pathways | GLI3 |
| Orthology - Evolution |
|---|
| OrthoDB | 2737 |
| GeneTree (enSembl) | ENSG00000106571 |
| Phylogenetic Trees/Animal Genes : TreeFam | GLI3 |
| HOVERGEN | P10071 |
| HOGENOM | P10071 |
| Homologs : HomoloGene | GLI3 |
| Homology/Alignments : Family Browser (UCSC) | GLI3 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | GLI3/FAM3B [7p14.1/21q22.3] |
| Fusion : Mitelman | GLI3/HIBADH [7p14.1/7p15.2] [t(7;7)(p14;p15)] |
| Fusion : Mitelman | GLI3/SUGCT [7p14.1/7p14.1] [t(7;7)(p14;p14)] |
| Fusion : Mitelman | GLI3/TMEM243 [7p14.1/7q21.12] [t(7;7)(p14;q21)] |
| Fusion: TCGA | GLI3 7p14.1 C7orf10 KIRC |
| Fusion: TCGA | GLI3 7p14.1 C7orf23 LGG |
| Fusion: TCGA | GLI3 7p14.1 HIBADH 7p15.2 LUAD |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | GLI3 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | GLI3 |
| dbVar | GLI3 |
| ClinVar | GLI3 |
| 1000_Genomes | GLI3 |
| Exome Variant Server | GLI3 |
| ExAC (Exome Aggregation Consortium) | GLI3 (select the gene name) |
| Genetic variants : HAPMAP | 2737 |
| Genomic Variants (DGV) | GLI3 [DGVbeta] |
| DECIPHER | GLI3 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | GLI3 |
| Mutations |
|---|
| ICGC Data Portal | GLI3 |
| TCGA Data Portal | GLI3 |
| Broad Tumor Portal | GLI3 |
| OASIS Portal | GLI3 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | GLI3 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | GLI3 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD - Leiden Open Variation Database |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search GLI3 |
| DgiDB (Drug Gene Interaction Database) | GLI3 |
| DoCM (Curated mutations) | GLI3 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | GLI3 (select a term) |
| intoGen | GLI3 |
| Cancer3D | GLI3(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 146510 165240 174200 174700 175700 189960 241800 |
| Orphanet | 405 2011 2130 20987 21027 21026 21025 21030 21029 21028 |
| Medgen | GLI3 |
| Genetic Testing Registry | GLI3
|
| NextProt | P10071 [Medical] |
| TSGene | 2737 |
| GENETests | GLI3 |
| Target Validation | GLI3 |
| Huge Navigator |
GLI3 [HugePedia] |
| snp3D : Map Gene to Disease | 2737 |
| BioCentury BCIQ | GLI3 |
| ClinGen | GLI3 (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 2737 |
| Chemical/Pharm GKB Gene | PA28722 |
| Clinical trial | GLI3 |
| Miscellaneous |
|---|
| canSAR (ICR) | GLI3 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 133 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | GLI3 |
| EVEX | GLI3 |
| GoPubMed | GLI3 |
| iHOP | GLI3 |
