Fusion genes
(updated 2016) | CDKL4 (2p22.1) / SP3 (2q31.1) | EFHD2 (1p36.21) / SP3 (2q31.1) | EWSR1 (22q12.2) / SP3 (2q31.1) |
| |
SP3 (2q31.1) / AFTPH (2p14) | SP3 (2q31.1) / GPR155 (2q31.1) | SP3 (2q31.1) / OLA1 (2q31.1) |
| |
SP3 (2q31.1) / PTK2 (8q24.3) | SP3 (2q31.1) / STK39 (2q24.3) | SP3 (2q31.1) / TRPM3 (9q21.12) |
| |
EWSR1 22q12.2 / SP3 2q31.1 | SP3 2q31.1 / GPR155 2q31.1 | SP3 2q31.1 / OLA1 2q31.1 |
| |
SP3 2q31.1 / STK39 2q24.3 |
| Nomenclature |
|---|
| HGNC (Hugo) | SP3 11208 |
| Cards |
|---|
| Entrez_Gene (NCBI) | SP3 6670 Sp3 transcription factor |
| Aliases | SPR2 |
| GeneCards (Weizmann) | SP3 |
| Ensembl hg19 (Hinxton) | ENSG00000172845 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000172845 [Gene_View] chr2:173906459-173964219 [Contig_View] SP3 [Vega] |
| ICGC DataPortal | ENSG00000172845 |
| TCGA cBioPortal | SP3 |
| AceView (NCBI) | SP3 |
| Genatlas (Paris) | SP3 |
| WikiGenes | 6670 |
| SOURCE (Princeton) | SP3 |
| Genetics Home Reference (NIH) | SP3 |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SP3 - chr2:173906459-173964219 - 2q31.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SP3 - 2q31.1 [Description] (hg19-Feb_2009) |
| Ensembl | SP3 - 2q31.1 [CytoView hg19] SP3 - 2q31.1 [CytoView hg38] |
| Mapping of homologs : NCBI | SP3 [Mapview hg19] SP3 [Mapview hg38] |
| OMIM | 601804 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AA706229 AB209334 AJ310752 AJ430844 AK304199 |
| RefSeq transcript (Entrez) | NM_001017371 NM_001172712 NM_003111 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SP3 |
| Cluster EST : Unigene | Hs.531587 [ NCBI ] |
| CGAP (NCI) | Hs.531587 |
| Alternative Splicing Gallery | ENSG00000172845 |
| Gene Expression | SP3 [ NCBI-GEO ] SP3 [ EBI - ARRAY_EXPRESS ]
SP3 [ SEEK ] SP3 [ MEM ] |
| Gene Expression Viewer (FireBrowse) | SP3 [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevisible | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6670 |
| GTEX Portal (Tissue expression) | SP3 |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q02447 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q02447 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q02447 |
| Splice isoforms : SwissVar | Q02447 |
| PhosPhoSitePlus | Q02447 |
| Domaine pattern : Prosite (Expaxy) | ZINC_FINGER_C2H2_1 (PS00028) ZINC_FINGER_C2H2_2 (PS50157) |
| Domains : Interpro (EBI) | SP3 Znf_C2H2 Znf_C2H2-like Znf_C2H2/integrase_DNA-bd |
| Domain families : Pfam (Sanger) | zf-C2H2 (PF00096) |
| Domain families : Pfam (NCBI) | pfam00096 |
| Domain families : Smart (EMBL) | ZnF_C2H2 (SM00355) |
| Conserved Domain (NCBI) | SP3 |
| DMDM Disease mutations | 6670 |
| Blocks (Seattle) | SP3 |
| Superfamily | Q02447 |
| Human Protein Atlas | ENSG00000172845 |
| Peptide Atlas | Q02447 |
| HPRD | 03483 |
| IPI | IPI00025807 IPI00852622 IPI01014738 IPI00852778 IPI00555936 IPI00853503 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q02447 |
| IntAct (EBI) | Q02447 |
| FunCoup | ENSG00000172845 |
| BioGRID | SP3 |
| STRING (EMBL) | SP3 |
| ZODIAC | SP3 |
| Ontologies - Pathways |
|---|
| QuickGO | Q02447 |
| 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 sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding ossification natural killer cell differentiation trophectodermal cell differentiation liver development embryonic placenta development chromatin binding protein binding nucleus nucleus nucleoplasm transcription, DNA-templated regulation of transcription, DNA-templated PML body protein sumoylation transcriptional repressor complex B cell differentiation T cell differentiation megakaryocyte differentiation monocyte differentiation lung development granulocyte differentiation enucleate erythrocyte differentiation negative regulation of transcription, DNA-templated negative regulation of transcription, DNA-templated positive 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 metal ion binding embryonic camera-type eye morphogenesis embryonic skeletal system development embryonic process involved in female pregnancy definitive hemopoiesis |
| 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 sequence-specific DNA binding RNA polymerase II transcription factor activity, sequence-specific DNA binding core promoter proximal region sequence-specific DNA binding transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding ossification natural killer cell differentiation trophectodermal cell differentiation liver development embryonic placenta development chromatin binding protein binding nucleus nucleus nucleoplasm transcription, DNA-templated regulation of transcription, DNA-templated PML body protein sumoylation transcriptional repressor complex B cell differentiation T cell differentiation megakaryocyte differentiation monocyte differentiation lung development granulocyte differentiation enucleate erythrocyte differentiation negative regulation of transcription, DNA-templated negative regulation of transcription, DNA-templated positive 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 metal ion binding embryonic camera-type eye morphogenesis embryonic skeletal system development embryonic process involved in female pregnancy definitive hemopoiesis |
| Pathways : BIOCARTA | Effects of calcineurin in Keratinocyte Differentiation [Genes] Overview of telomerase RNA component gene hTerc Transcriptional Regulation [Genes] Overview of telomerase protein component gene hTert Transcriptional Regulation [Genes] |
| NDEx Network | SP3 |
| Atlas of Cancer Signalling Network | SP3 |
| Wikipedia pathways | SP3 |
| Orthology - Evolution |
|---|
| OrthoDB | 6670 |
| GeneTree (enSembl) | ENSG00000172845 |
| Phylogenetic Trees/Animal Genes : TreeFam | SP3 |
| HOVERGEN | Q02447 |
| HOGENOM | Q02447 |
| Homologs : HomoloGene | SP3 |
| Homology/Alignments : Family Browser (UCSC) | SP3 |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | EWSR1/SP3 [22q12.2/2q31.1] [t(2;22)(q31;q12)] |
| Fusion : Mitelman | SP3/GPR155 [2q31.1/2q31.1] [t(2;2)(q31;q31)] |
| Fusion : Mitelman | SP3/OLA1 [2q31.1/2q31.1] [t(2;2)(q31;q31)] |
| Fusion : Mitelman | SP3/PTK2 [2q31.1/8q24.3] [t(2;8)(q31;q24)] |
| Fusion : Mitelman | SP3/STK39 [2q31.1/2q24.3] [t(2;2)(q24;q31)] |
| Fusion: TCGA | SP3 2q31.1 GPR155 2q31.1 OV |
| Fusion: TCGA | SP3 2q31.1 OLA1 2q31.1 BRCA |
| Fusion: TCGA | SP3 2q31.1 STK39 2q24.3 LUSC |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SP3 [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SP3 |
| dbVar | SP3 |
| ClinVar | SP3 |
| 1000_Genomes | SP3 |
| Exome Variant Server | SP3 |
| ExAC (Exome Aggregation Consortium) | SP3 (select the gene name) |
| Genetic variants : HAPMAP | 6670 |
| Genomic Variants (DGV) | SP3 [DGVbeta] |
| DECIPHER | SP3 [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SP3 |
| Mutations |
|---|
| ICGC Data Portal | SP3 |
| TCGA Data Portal | SP3 |
| Broad Tumor Portal | SP3 |
| OASIS Portal | SP3 [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SP3 [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SP3 |
| LOVD (Leiden Open Variation Database) | Whole genome datasets |
| LOVD (Leiden Open Variation Database) | LOVD 3.0 shared installation |
| BioMuta | search SP3 |
| DgiDB (Drug Gene Interaction Database) | SP3 |
| DoCM (Curated mutations) | SP3 (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | SP3 (select a term) |
| intoGen | SP3 |
| Cancer3D | SP3(select the gene name) |
| Impact of mutations | [PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 601804 |
| Orphanet | |
| Medgen | SP3 |
| Genetic Testing Registry | SP3
|
| NextProt | Q02447 [Medical] |
| TSGene | 6670 |
| GENETests | SP3 |
| Huge Navigator |
SP3 [HugePedia] |
| snp3D : Map Gene to Disease | 6670 |
| BioCentury BCIQ | SP3 |
| ClinGen | SP3 |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6670 |
| Chemical/Pharm GKB Gene | PA36045 |
| Clinical trial | SP3 |
| Miscellaneous |
|---|
| canSAR (ICR) | SP3 (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 191 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SP3 |
| EVEX | SP3 |
| GoPubMed | SP3 |
| iHOP | SP3 |
