| Nomenclature |
|---|
| HGNC (Hugo) | OBSCN 15719 |
| LRG (Locus Reference Genomic) | LRG_412 |
| Cards |
|---|
| Entrez_Gene (NCBI) | OBSCN 84033 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
| Aliases | ARHGEF30; UNC89 |
| GeneCards (Weizmann) | OBSCN |
| Ensembl hg19 (Hinxton) | ENSG00000154358 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000154358 [Gene_View] ENSG00000154358 [Sequence] chr1:228208130-228361250 [Contig_View] OBSCN [Vega] |
| ICGC DataPortal | ENSG00000154358 |
| TCGA cBioPortal | OBSCN |
| AceView (NCBI) | OBSCN |
| Genatlas (Paris) | OBSCN |
| WikiGenes | 84033 |
| SOURCE (Princeton) | OBSCN |
| Genetics Home Reference (NIH) | OBSCN |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | OBSCN - chr1:228208130-228361250 + 1q42.13 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | OBSCN - 1q42.13 [Description] (hg19-Feb_2009) |
| GoldenPath | OBSCN - 1q42.13 [CytoView hg19] OBSCN - 1q42.13 [CytoView hg38] |
| ImmunoBase | ENSG00000154358 |
| Mapping of homologs : NCBI | OBSCN [Mapview hg19] OBSCN [Mapview hg38] |
| OMIM | 608616 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AB046776 AB046859 AJ002535 AK024186 AK097489 |
| RefSeq transcript (Entrez) | NM_001098623 NM_001271223 NM_052843 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | OBSCN |
| Cluster EST : Unigene | Hs.656999 [ NCBI ] |
| CGAP (NCI) | Hs.656999 |
| Alternative Splicing Gallery | ENSG00000154358 |
| Gene Expression | OBSCN [ NCBI-GEO ] OBSCN [ EBI - ARRAY_EXPRESS ]
OBSCN [ SEEK ] OBSCN [ MEM ] |
| Gene Expression Viewer (FireBrowse) | OBSCN [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 84033 |
| GTEX Portal (Tissue expression) | OBSCN |
| Human Protein Atlas | ENSG00000154358-OBSCN [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | Q5VST9 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | Q5VST9 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | Q5VST9 |
| Splice isoforms : SwissVar | Q5VST9 |
| PhosPhoSitePlus | Q5VST9 |
| Domaine pattern : Prosite (Expaxy) | DH_2 (PS50010) FN3 (PS50853) IG_LIKE (PS50835) IQ (PS50096) PH_DOMAIN (PS50003) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108) PROTEIN_KINASE_TYR (PS00109) SH3 (PS50002) |
| Domains : Interpro (EBI) | DBL_dom_sf DH-domain FN3_dom FN3_sf Ig-like_dom Ig-like_dom_sf Ig-like_fold Ig_I-set Ig_sub Ig_sub2 Ig_V-set IQ_motif_EF-hand-BS Kinase-like_dom_sf Obscurin_SH3 PH-like_dom_sf PH_domain Prot_kinase_dom Protein_kinase_ATP_BS Ser/Thr_kinase_AS SH3-like_dom_sf Tyr_kinase_AS |
| Domain families : Pfam (Sanger) | fn3 (PF00041) I-set (PF07679) IQ (PF00612) Pkinase (PF00069) RhoGEF (PF00621) |
| Domain families : Pfam (NCBI) | pfam00041 pfam07679 pfam00612 pfam00069 pfam00621 |
| Domain families : Smart (EMBL) | FN3 (SM00060) IG (SM00409) IGc2 (SM00408) IGv (SM00406) IQ (SM00015) PH (SM00233) RhoGEF (SM00325) S_TKc (SM00220) |
| Conserved Domain (NCBI) | OBSCN |
| DMDM Disease mutations | 84033 |
| Blocks (Seattle) | OBSCN |
| PDB (RSDB) | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| PDB Europe | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| PDB (PDBSum) | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| PDB (IMB) | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| Structural Biology KnowledgeBase | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| SCOP (Structural Classification of Proteins) | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| CATH (Classification of proteins structures) | 1V1C 2CR6 2DKU 2DM7 2E7B 2EDF 2EDH 2EDL 2EDQ 2EDR 2EDT 2EDW 2ENY 2EO1 2GQH 2MWC 2N56 2YZ8 4C4K 4RSV 4UOW 5TZM |
| Superfamily | Q5VST9 |
| Human Protein Atlas [tissue] | ENSG00000154358-OBSCN [tissue] |
| Peptide Atlas | Q5VST9 |
| HPRD | 08594 |
| IPI | IPI00288940 IPI00742748 IPI00744119 IPI00479915 IPI00854629 IPI00953396 IPI00016383 IPI00641787 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | Q5VST9 |
| IntAct (EBI) | Q5VST9 |
| FunCoup | ENSG00000154358 |
| BioGRID | OBSCN |
| STRING (EMBL) | OBSCN |
| ZODIAC | OBSCN |
| Ontologies - Pathways |
|---|
| QuickGO | Q5VST9 |
| Ontology : AmiGO | protein serine/threonine kinase activity Rho guanyl-nucleotide exchange factor activity protein binding calmodulin binding ATP binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytosol cytosol plasma membrane protein phosphorylation G protein-coupled receptor signaling pathway multicellular organism development structural constituent of muscle phosphatidylinositol-5-phosphate binding nuclear body myofibril Z disc ankyrin binding M band titin binding phosphatidylinositol-3-phosphate binding regulation of Rho protein signal transduction protein localization to M-band sarcolemma positive regulation of apoptotic process phosphatidylinositol-3,4-bisphosphate binding sarcomere organization metal ion binding regulation of small GTPase mediated signal transduction phosphatidylinositol-4-phosphate binding |
| Ontology : EGO-EBI | protein serine/threonine kinase activity Rho guanyl-nucleotide exchange factor activity protein binding calmodulin binding ATP binding phosphatidylinositol-4,5-bisphosphate binding phosphatidylinositol-3,4,5-trisphosphate binding cytosol cytosol plasma membrane protein phosphorylation G protein-coupled receptor signaling pathway multicellular organism development structural constituent of muscle phosphatidylinositol-5-phosphate binding nuclear body myofibril Z disc ankyrin binding M band titin binding phosphatidylinositol-3-phosphate binding regulation of Rho protein signal transduction protein localization to M-band sarcolemma positive regulation of apoptotic process phosphatidylinositol-3,4-bisphosphate binding sarcomere organization metal ion binding regulation of small GTPase mediated signal transduction phosphatidylinositol-4-phosphate binding |
| NDEx Network | OBSCN |
| Atlas of Cancer Signalling Network | OBSCN |
| Wikipedia pathways | OBSCN |
| Orthology - Evolution |
|---|
| OrthoDB | 84033 |
| GeneTree (enSembl) | ENSG00000154358 |
| Phylogenetic Trees/Animal Genes : TreeFam | OBSCN |
| HOGENOM | Q5VST9 |
| Homologs : HomoloGene | OBSCN |
| Homology/Alignments : Family Browser (UCSC) | OBSCN |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | OBSCN/CASZ1 [1q42.13/1p36.22] |
| Fusion : Mitelman | OBSCN/DISC1 [1q42.13/1q42.2] [t(1;1)(q42;q42)] |
| Fusion : Mitelman | OBSCN/IGSF21 [1q42.13/1p36.13] [t(1;1)(p36;q42)] |
| Fusion : Mitelman | RNF187/OBSCN [1q42.13/1q42.13] [t(1;1)(q42;q42)] |
| Fusion Portal | OBSCN 1q42.13 CASZ1 1p36.22 HNSC |
| Fusion Portal | OBSCN 1q42.13 DISC1 1q42.2 SKCM |
| Fusion Portal | OBSCN 1q42.13 IGSF21 1p36.13 BRCA |
| Fusion : Quiver | OBSCN |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | OBSCN [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | OBSCN |
| dbVar | OBSCN |
| ClinVar | OBSCN |
| 1000_Genomes | OBSCN |
| Exome Variant Server | OBSCN |
| ExAC (Exome Aggregation Consortium) | ENSG00000154358 |
| GNOMAD Browser | ENSG00000154358 |
| Varsome Browser | OBSCN |
| Genetic variants : HAPMAP | 84033 |
| Genomic Variants (DGV) | OBSCN [DGVbeta] |
| DECIPHER | OBSCN [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | OBSCN |
| Mutations |
|---|
| ICGC Data Portal | OBSCN |
| TCGA Data Portal | OBSCN |
| Broad Tumor Portal | OBSCN |
| OASIS Portal | OBSCN [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | OBSCN [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | OBSCN |
| Mutations and Diseases : HGMD | OBSCN |
| 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 OBSCN |
| DgiDB (Drug Gene Interaction Database) | OBSCN |
| DoCM (Curated mutations) | OBSCN (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | OBSCN (select a term) |
| intoGen | OBSCN |
| Cancer3D | OBSCN(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 608616 |
| Orphanet | |
| DisGeNET | OBSCN |
| Medgen | OBSCN |
| Genetic Testing Registry | OBSCN
|
| NextProt | Q5VST9 [Medical] |
| TSGene | 84033 |
| GENETests | OBSCN |
| Target Validation | OBSCN |
| Huge Navigator |
OBSCN [HugePedia] |
| snp3D : Map Gene to Disease | 84033 |
| BioCentury BCIQ | OBSCN |
| ClinGen | OBSCN |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 84033 |
| Chemical/Pharm GKB Gene | PA31888 |
| Clinical trial | OBSCN |
| Miscellaneous |
|---|
| canSAR (ICR) | OBSCN (select the gene name) |
| DataMed Index | OBSCN |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 56 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | OBSCN |
| EVEX | OBSCN |
| GoPubMed | OBSCN |
| iHOP | OBSCN |
