Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OTX1 (orthodenticle homeobox 1)

Identity

Alias (NCBI)-
HGNC (Hugo) OTX1
HGNC Previous nameorthodenticle (Drosophila) homolog 1
 orthodenticle homolog 1 (Drosophila)
LocusID (NCBI) 5013
Atlas_Id 51362
Location 2p15  [Link to chromosome band 2p15]
Location_base_pair Starts at 63050830 and ends at 63057831 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    orthodenticle homeobox 1
Aliases
GeneCards (Weizmann)OTX1
Ensembl hg19 (Hinxton)ENSG00000115507 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115507 [Gene_View]  ENSG00000115507 [Sequence]  chr2:63050830-63057831 [Contig_View]  OTX1 [Vega]
ICGC DataPortalENSG00000115507
TCGA cBioPortalOTX1
AceView (NCBI)OTX1
Genatlas (Paris)OTX1
SOURCE (Princeton)OTX1
Genetics Home Reference (NIH)OTX1
Genomic and cartography
GoldenPath hg38 (UCSC)OTX1  -     chr2:63050830-63057831 +  2p15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OTX1  -     2p15   [Description]    (hg19-Feb_2009)
GoldenPathOTX1 - 2p15 [CytoView hg19]  OTX1 - 2p15 [CytoView hg38]
ImmunoBaseENSG00000115507
Genome Data Viewer NCBIOTX1 [Mapview hg19]  
OMIM600036   
Gene and transcription
Genbank (Entrez)AK095680 AK297308 BC007621 BM720707 BP310240
RefSeq transcript (Entrez)NM_001199770 NM_014562
Consensus coding sequences : CCDS (NCBI)OTX1
Gene ExpressionOTX1 [ NCBI-GEO ]   OTX1 [ EBI - ARRAY_EXPRESS ]   OTX1 [ SEEK ]   OTX1 [ MEM ]
Gene Expression Viewer (FireBrowse)OTX1 [ Firebrowse - Broad ]
GenevisibleExpression of OTX1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5013
GTEX Portal (Tissue expression)OTX1
Human Protein AtlasENSG00000115507-OTX1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP32242
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Otx1_TF    Otx_TF    Otx_TF_C   
Domain families : Pfam (Sanger)Homeodomain (PF00046)    TF_Otx (PF03529)   
Domain families : Pfam (NCBI)pfam00046    pfam03529   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)OTX1
SuperfamilyP32242
AlphaFold pdb e-kbP32242   
Human Protein Atlas [tissue]ENSG00000115507-OTX1 [tissue]
HPRD08964
Protein Interaction databases
DIP (DOE-UCLA)P32242
IntAct (EBI)P32242
BioGRIDOTX1
STRING (EMBL)OTX1
ZODIACOTX1
Ontologies - Pathways
QuickGOP32242
Ontology : AmiGOchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  protein binding  nucleus  regulation of transcription by RNA polymerase II  anterior/posterior pattern specification  metencephalon development  midbrain development  inner ear morphogenesis  positive regulation of transcription by RNA polymerase II  diencephalon morphogenesis  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II cis-regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  protein binding  nucleus  regulation of transcription by RNA polymerase II  anterior/posterior pattern specification  metencephalon development  midbrain development  inner ear morphogenesis  positive regulation of transcription by RNA polymerase II  diencephalon morphogenesis  sequence-specific double-stranded DNA binding  
NDEx NetworkOTX1
Atlas of Cancer Signalling NetworkOTX1
Wikipedia pathwaysOTX1
Orthology - Evolution
OrthoDB5013
GeneTree (enSembl)ENSG00000115507
Phylogenetic Trees/Animal Genes : TreeFamOTX1
Homologs : HomoloGeneOTX1
Homology/Alignments : Family Browser (UCSC)OTX1
Gene fusions - Rearrangements
Fusion : QuiverOTX1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOTX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OTX1
dbVarOTX1
ClinVarOTX1
MonarchOTX1
1000_GenomesOTX1 
Exome Variant ServerOTX1
GNOMAD BrowserENSG00000115507
Varsome BrowserOTX1
ACMGOTX1 variants
VarityP32242
Genomic Variants (DGV)OTX1 [DGVbeta]
DECIPHEROTX1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DOTX1
Mutations and Diseases : HGMDOTX1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaOTX1
DgiDB (Drug Gene Interaction Database)OTX1
DoCM (Curated mutations)OTX1
CIViC (Clinical Interpretations of Variants in Cancer)OTX1
Cancer3DOTX1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600036   
Orphanet
DisGeNETOTX1
MedgenOTX1
Genetic Testing Registry OTX1
NextProtP32242 [Medical]
GENETestsOTX1
Target ValidationOTX1
Huge Navigator OTX1 [HugePedia]
ClinGenOTX1
Clinical trials, drugs, therapy
MyCancerGenomeOTX1
Protein Interactions : CTDOTX1
Pharm GKB GenePA32848
PharosP32242
Clinical trialOTX1
Miscellaneous
canSAR (ICR)OTX1
HarmonizomeOTX1
DataMed IndexOTX1
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXOTX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:23:59 CEST 2021

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