Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OTX1 (orthodenticle homeobox 1)

Identity

Alias_namesorthodenticle (Drosophila) homolog 1
orthodenticle homolog 1 (Drosophila)
Other alias-
HGNC (Hugo) OTX1
LocusID (NCBI) 5013
Atlas_Id 51362
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 63277192 and ends at 63284966 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MRPS34 (16p13.3) / OTX1 (2p15)OTX1 (2p15) / OTX1 (2p15)

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)OTX1   8521
Cards
Entrez_Gene (NCBI)OTX1  5013  orthodenticle homeobox 1
Aliases
GeneCards (Weizmann)OTX1
Ensembl hg19 (Hinxton)ENSG00000115507 [Gene_View]  chr2:63277192-63284966 [Contig_View]  OTX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000115507 [Gene_View]  chr2:63277192-63284966 [Contig_View]  OTX1 [Vega]
ICGC DataPortalENSG00000115507
TCGA cBioPortalOTX1
AceView (NCBI)OTX1
Genatlas (Paris)OTX1
WikiGenes5013
SOURCE (Princeton)OTX1
Genetics Home Reference (NIH)OTX1
Genomic and cartography
GoldenPath hg19 (UCSC)OTX1  -     chr2:63277192-63284966 +  2p15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OTX1  -     2p15   [Description]    (hg38-Dec_2013)
EnsemblOTX1 - 2p15 [CytoView hg19]  OTX1 - 2p15 [CytoView hg38]
Mapping of homologs : NCBIOTX1 [Mapview hg19]  OTX1 [Mapview hg38]
OMIM600036   
Gene and transcription
Genbank (Entrez)AK095680 AK297308 BC007621 BM720707 BP310240
RefSeq transcript (Entrez)NM_001199770 NM_014562
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)OTX1
Cluster EST : UnigeneHs.734360 [ NCBI ]
CGAP (NCI)Hs.734360
Alternative Splicing GalleryENSG00000115507
Gene ExpressionOTX1 [ NCBI-GEO ]   OTX1 [ EBI - ARRAY_EXPRESS ]   OTX1 [ SEEK ]   OTX1 [ MEM ]
Gene Expression Viewer (FireBrowse)OTX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5013
GTEX Portal (Tissue expression)OTX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP32242   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP32242  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP32242
Splice isoforms : SwissVarP32242
PhosPhoSitePlusP32242
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    Otx1_TF    Otx_TF    Otx_TF_C   
Domain families : Pfam (Sanger)Homeobox (PF00046)    TF_Otx (PF03529)   
Domain families : Pfam (NCBI)pfam00046    pfam03529   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)OTX1
DMDM Disease mutations5013
Blocks (Seattle)OTX1
SuperfamilyP32242
Human Protein AtlasENSG00000115507
Peptide AtlasP32242
HPRD08964
IPIIPI00027682   IPI00893969   
Protein Interaction databases
DIP (DOE-UCLA)P32242
IntAct (EBI)P32242
FunCoupENSG00000115507
BioGRIDOTX1
STRING (EMBL)OTX1
ZODIACOTX1
Ontologies - Pathways
QuickGOP32242
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  transcription from RNA polymerase II promoter  anterior/posterior pattern specification  metencephalon development  midbrain development  inner ear morphogenesis  positive regulation of transcription from RNA polymerase II promoter  diencephalon morphogenesis  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  protein binding  nucleus  transcription from RNA polymerase II promoter  anterior/posterior pattern specification  metencephalon development  midbrain development  inner ear morphogenesis  positive regulation of transcription from RNA polymerase II promoter  diencephalon morphogenesis  
NDEx NetworkOTX1
Atlas of Cancer Signalling NetworkOTX1
Wikipedia pathwaysOTX1
Orthology - Evolution
OrthoDB5013
GeneTree (enSembl)ENSG00000115507
Phylogenetic Trees/Animal Genes : TreeFamOTX1
HOVERGENP32242
HOGENOMP32242
Homologs : HomoloGeneOTX1
Homology/Alignments : Family Browser (UCSC)OTX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOTX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OTX1
dbVarOTX1
ClinVarOTX1
1000_GenomesOTX1 
Exome Variant ServerOTX1
ExAC (Exome Aggregation Consortium)OTX1 (select the gene name)
Genetic variants : HAPMAP5013
Genomic Variants (DGV)OTX1 [DGVbeta]
DECIPHER (Syndromes)2:63277192-63284966  ENSG00000115507
CONAN: Copy Number AnalysisOTX1 
Mutations
ICGC Data PortalOTX1 
TCGA Data PortalOTX1 
Broad Tumor PortalOTX1
OASIS PortalOTX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOTX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOTX1
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 OTX1
DgiDB (Drug Gene Interaction Database)OTX1
DoCM (Curated mutations)OTX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OTX1 (select a term)
intoGenOTX1
Cancer3DOTX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600036   
Orphanet
MedgenOTX1
Genetic Testing Registry OTX1
NextProtP32242 [Medical]
TSGene5013
GENETestsOTX1
Huge Navigator OTX1 [HugePedia]
snp3D : Map Gene to Disease5013
BioCentury BCIQOTX1
ClinGenOTX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5013
Chemical/Pharm GKB GenePA32848
Clinical trialOTX1
Miscellaneous
canSAR (ICR)OTX1 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOTX1
EVEXOTX1
GoPubMedOTX1
iHOPOTX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:13:16 CEST 2017

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