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OFD1 (oral-facial-digital syndrome 1)

Identity

Alias_namesCXorf5
RP23
retinitis pigmentosa 23 (X-linked recessive)
oral-facial-digital syndrome 1
Alias_symbol (synonym)71-7A
JBTS10
Other aliasSGBS2
HGNC (Hugo) OFD1
LocusID (NCBI) 8481
Atlas_Id 71100
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 13752832 and ends at 13787480 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
FGFR2 (10q26.13) / OFD1 (Xp22.2)HIF1A (14q23.2) / OFD1 (Xp22.2)OFD1 (Xp22.2) / FGFR2 (10q26.13)
OFD1 (Xp22.2) / JAK2 (9p24.1)OFD1 (Xp22.2) / OFD1 (Xp22.2)OFD1 (Xp22.2) / TINAGL1 (1p35.2)
SMG5 (1q22) / OFD1 (Xp22.2)TMEM56-RWDD3 (1p21.3) / OFD1 (Xp22.2)

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)OFD1   2567
Cards
Entrez_Gene (NCBI)OFD1  8481  oral-facial-digital syndrome 1
Aliases71-7A; CXorf5; JBTS10; RP23; 
SGBS2
GeneCards (Weizmann)OFD1
Ensembl hg19 (Hinxton)ENSG00000046651 [Gene_View]  chrX:13752832-13787480 [Contig_View]  OFD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000046651 [Gene_View]  chrX:13752832-13787480 [Contig_View]  OFD1 [Vega]
ICGC DataPortalENSG00000046651
TCGA cBioPortalOFD1
AceView (NCBI)OFD1
Genatlas (Paris)OFD1
WikiGenes8481
SOURCE (Princeton)OFD1
Genetics Home Reference (NIH)OFD1
Genomic and cartography
GoldenPath hg19 (UCSC)OFD1  -     chrX:13752832-13787480 +  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)OFD1  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblOFD1 - Xp22.2 [CytoView hg19]  OFD1 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIOFD1 [Mapview hg19]  OFD1 [Mapview hg38]
OMIM300170   300209   300424   300804   311200   
Gene and transcription
Genbank (Entrez)AK225847 AK289677 AK290354 AK297104 AK311067
RefSeq transcript (Entrez)NM_003611
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_008872 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)OFD1
Cluster EST : UnigeneHs.6483 [ NCBI ]
CGAP (NCI)Hs.6483
Alternative Splicing GalleryENSG00000046651
Gene ExpressionOFD1 [ NCBI-GEO ]   OFD1 [ EBI - ARRAY_EXPRESS ]   OFD1 [ SEEK ]   OFD1 [ MEM ]
Gene Expression Viewer (FireBrowse)OFD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8481
GTEX Portal (Tissue expression)OFD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75665   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75665  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75665
Splice isoforms : SwissVarO75665
PhosPhoSitePlusO75665
Domaine pattern : Prosite (Expaxy)LISH (PS50896)   
Domains : Interpro (EBI)LisH   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)LisH (SM00667)  
Conserved Domain (NCBI)OFD1
DMDM Disease mutations8481
Blocks (Seattle)OFD1
SuperfamilyO75665
Human Protein AtlasENSG00000046651
Peptide AtlasO75665
HPRD02162
IPIIPI00026580   IPI00221364   IPI00828042   IPI01010367   
Protein Interaction databases
DIP (DOE-UCLA)O75665
IntAct (EBI)O75665
FunCoupENSG00000046651
BioGRIDOFD1
STRING (EMBL)OFD1
ZODIACOFD1
Ontologies - Pathways
QuickGOO75665
Ontology : AmiGOG2/M transition of mitotic cell cycle  mitotic cell cycle  protein binding  nucleus  centrosome  centriole  cytosol  cilium  organelle organization  mitotic nuclear division  centriole replication  embryonic body morphogenesis  microtubule cytoskeleton  membrane  centriolar satellite  axoneme assembly  ciliary basal body  alpha-tubulin binding  gamma-tubulin binding  cilium morphogenesis  epithelial cilium movement involved in determination of left/right asymmetry  mitotic spindle assembly  negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  mitotic cell cycle  protein binding  nucleus  centrosome  centriole  cytosol  cilium  organelle organization  mitotic nuclear division  centriole replication  embryonic body morphogenesis  microtubule cytoskeleton  membrane  centriolar satellite  axoneme assembly  ciliary basal body  alpha-tubulin binding  gamma-tubulin binding  cilium morphogenesis  epithelial cilium movement involved in determination of left/right asymmetry  mitotic spindle assembly  negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation  
NDEx NetworkOFD1
Atlas of Cancer Signalling NetworkOFD1
Wikipedia pathwaysOFD1
Orthology - Evolution
OrthoDB8481
GeneTree (enSembl)ENSG00000046651
Phylogenetic Trees/Animal Genes : TreeFamOFD1
HOVERGENO75665
HOGENOMO75665
Homologs : HomoloGeneOFD1
Homology/Alignments : Family Browser (UCSC)OFD1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOFD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OFD1
dbVarOFD1
ClinVarOFD1
1000_GenomesOFD1 
Exome Variant ServerOFD1
ExAC (Exome Aggregation Consortium)OFD1 (select the gene name)
Genetic variants : HAPMAP8481
Genomic Variants (DGV)OFD1 [DGVbeta]
DECIPHER (Syndromes)X:13752832-13787480  ENSG00000046651
CONAN: Copy Number AnalysisOFD1 
Mutations
ICGC Data PortalOFD1 
TCGA Data PortalOFD1 
Broad Tumor PortalOFD1
OASIS PortalOFD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOFD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOFD1
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
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch OFD1
DgiDB (Drug Gene Interaction Database)OFD1
DoCM (Curated mutations)OFD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OFD1 (select a term)
intoGenOFD1
Cancer3DOFD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300170    300209    300424    300804    311200   
Orphanet665    659    2510    2506    11123   
MedgenOFD1
Genetic Testing Registry OFD1
NextProtO75665 [Medical]
TSGene8481
GENETestsOFD1
Huge Navigator OFD1 [HugePedia]
snp3D : Map Gene to Disease8481
BioCentury BCIQOFD1
ClinGenOFD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8481
Chemical/Pharm GKB GenePA31909
Clinical trialOFD1
Miscellaneous
canSAR (ICR)OFD1 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOFD1
EVEXOFD1
GoPubMedOFD1
iHOPOFD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:35:48 CET 2017

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