Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

OPHN1 (oligophrenin 1)

Identity

Alias_namesMRX60
mental retardation
Alias_symbol (synonym)OPN1
ARHGAP41
Other alias
HGNC (Hugo) OPHN1
LocusID (NCBI) 4983
Atlas_Id 55342
Location Xq12  [Link to chromosome band Xq12]
Location_base_pair Starts at 67262186 and ends at 67653299 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FN1 (2q35) / OPHN1 (Xq12)OPHN1 (Xq12) / AKIRIN1 (1p34.3)OPHN1 (Xq12) / MAOA (Xp11.3)
RAD51B (14q24.1) / OPHN1 (Xq12)OPHN1 Xq12 / MAOA Xp11.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)OPHN1   8148
Cards
Entrez_Gene (NCBI)OPHN1  4983  oligophrenin 1
AliasesARHGAP41; MRX60; OPN1
GeneCards (Weizmann)OPHN1
Ensembl hg19 (Hinxton)ENSG00000079482 [Gene_View]  chrX:67262186-67653299 [Contig_View]  OPHN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000079482 [Gene_View]  chrX:67262186-67653299 [Contig_View]  OPHN1 [Vega]
ICGC DataPortalENSG00000079482
TCGA cBioPortalOPHN1
AceView (NCBI)OPHN1
Genatlas (Paris)OPHN1
WikiGenes4983
SOURCE (Princeton)OPHN1
Genetics Home Reference (NIH)OPHN1
Genomic and cartography
GoldenPath hg19 (UCSC)OPHN1  -     chrX:67262186-67653299 -  Xq12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OPHN1  -     Xq12   [Description]    (hg38-Dec_2013)
EnsemblOPHN1 - Xq12 [CytoView hg19]  OPHN1 - Xq12 [CytoView hg38]
Mapping of homologs : NCBIOPHN1 [Mapview hg19]  OPHN1 [Mapview hg38]
OMIM300127   300486   
Gene and transcription
Genbank (Entrez)AB102656 AJ001189 AK295769 AK309665 AK309696
RefSeq transcript (Entrez)NM_002547
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008960 NT_011651 NW_004929443
Consensus coding sequences : CCDS (NCBI)OPHN1
Cluster EST : UnigeneHs.128824 [ NCBI ]
CGAP (NCI)Hs.128824
Alternative Splicing GalleryENSG00000079482
Gene ExpressionOPHN1 [ NCBI-GEO ]   OPHN1 [ EBI - ARRAY_EXPRESS ]   OPHN1 [ SEEK ]   OPHN1 [ MEM ]
Gene Expression Viewer (FireBrowse)OPHN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)4983
GTEX Portal (Tissue expression)OPHN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60890   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60890  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60890
Splice isoforms : SwissVarO60890
PhosPhoSitePlusO60890
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    RHOGAP (PS50238)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    Rho_GTPase_activation_prot    RhoGAP_dom   
Domain families : Pfam (Sanger)PH (PF00169)    RhoGAP (PF00620)   
Domain families : Pfam (NCBI)pfam00169    pfam00620   
Domain families : Smart (EMBL)PH (SM00233)  RhoGAP (SM00324)  
Conserved Domain (NCBI)OPHN1
DMDM Disease mutations4983
Blocks (Seattle)OPHN1
SuperfamilyO60890
Human Protein AtlasENSG00000079482
Peptide AtlasO60890
HPRD02130
IPIIPI00001762   IPI01010686   IPI01009349   IPI00446793   
Protein Interaction databases
DIP (DOE-UCLA)O60890
IntAct (EBI)O60890
FunCoupENSG00000079482
BioGRIDOPHN1
STRING (EMBL)OPHN1
ZODIACOPHN1
Ontologies - Pathways
QuickGOO60890
Ontology : AmiGOactin binding  GTPase activator activity  phospholipid binding  cytosol  substrate-dependent cell migration, cell extension  signal transduction  nervous system development  axon guidance  actin cytoskeleton  actin cytoskeleton organization  cell junction  regulation of endocytosis  ionotropic glutamate receptor binding  terminal bouton  dendritic spine  positive regulation of GTPase activity  synaptic vesicle endocytosis  regulation of small GTPase mediated signal transduction  regulation of synaptic transmission, glutamatergic  negative regulation of proteasomal protein catabolic process  
Ontology : EGO-EBIactin binding  GTPase activator activity  phospholipid binding  cytosol  substrate-dependent cell migration, cell extension  signal transduction  nervous system development  axon guidance  actin cytoskeleton  actin cytoskeleton organization  cell junction  regulation of endocytosis  ionotropic glutamate receptor binding  terminal bouton  dendritic spine  positive regulation of GTPase activity  synaptic vesicle endocytosis  regulation of small GTPase mediated signal transduction  regulation of synaptic transmission, glutamatergic  negative regulation of proteasomal protein catabolic process  
Pathways : BIOCARTARho cell motility signaling pathway [Genes]   
NDEx NetworkOPHN1
Atlas of Cancer Signalling NetworkOPHN1
Wikipedia pathwaysOPHN1
Orthology - Evolution
OrthoDB4983
GeneTree (enSembl)ENSG00000079482
Phylogenetic Trees/Animal Genes : TreeFamOPHN1
HOVERGENO60890
HOGENOMO60890
Homologs : HomoloGeneOPHN1
Homology/Alignments : Family Browser (UCSC)OPHN1
Gene fusions - Rearrangements
Fusion : MitelmanOPHN1/MAOA [Xq12/Xp11.3]  
Fusion: TCGAOPHN1 Xq12 MAOA Xp11.3 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPHN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPHN1
dbVarOPHN1
ClinVarOPHN1
1000_GenomesOPHN1 
Exome Variant ServerOPHN1
ExAC (Exome Aggregation Consortium)OPHN1 (select the gene name)
Genetic variants : HAPMAP4983
Genomic Variants (DGV)OPHN1 [DGVbeta]
DECIPHER (Syndromes)X:67262186-67653299  ENSG00000079482
CONAN: Copy Number AnalysisOPHN1 
Mutations
ICGC Data PortalOPHN1 
TCGA Data PortalOPHN1 
Broad Tumor PortalOPHN1
OASIS PortalOPHN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPHN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOPHN1
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
BioMutasearch OPHN1
DgiDB (Drug Gene Interaction Database)OPHN1
DoCM (Curated mutations)OPHN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OPHN1 (select a term)
intoGenOPHN1
Cancer3DOPHN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300127    300486   
Orphanet16724   
MedgenOPHN1
Genetic Testing Registry OPHN1
NextProtO60890 [Medical]
TSGene4983
GENETestsOPHN1
Huge Navigator OPHN1 [HugePedia]
snp3D : Map Gene to Disease4983
BioCentury BCIQOPHN1
ClinGenOPHN1 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD4983
Chemical/Pharm GKB GenePA31934
Clinical trialOPHN1
Miscellaneous
canSAR (ICR)OPHN1 (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOPHN1
EVEXOPHN1
GoPubMedOPHN1
iHOPOPHN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:19:50 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.