Atlas of Genetics and Cytogenetics in Oncology and Haematology


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OTOF (otoferlin)

Identity

Alias_namesDFNB9
Alias_symbol (synonym)FER1L2
DFNB6
Other aliasAUNB1
NSRD9
HGNC (Hugo) OTOF
LocusID (NCBI) 9381
Atlas_Id 56122
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 26457203 and ends at 26558698 bp from pter ( according to hg38-Dec_2013)

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)OTOF   8515
Cards
Entrez_Gene (NCBI)OTOF  9381  otoferlin
AliasesAUNB1; DFNB6; DFNB9; FER1L2; 
NSRD9
GeneCards (Weizmann)OTOF
Ensembl hg19 (Hinxton)ENSG00000115155 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000115155 [Gene_View]  chr2:26457203-26558698 [Contig_View]  OTOF [Vega]
ICGC DataPortalENSG00000115155
TCGA cBioPortalOTOF
AceView (NCBI)OTOF
Genatlas (Paris)OTOF
WikiGenes9381
SOURCE (Princeton)OTOF
Genetics Home Reference (NIH)OTOF
Genomic and cartography
GoldenPath hg38 (UCSC)OTOF  -     chr2:26457203-26558698 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OTOF  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblOTOF - 2p23.3 [CytoView hg19]  OTOF - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIOTOF [Mapview hg19]  OTOF [Mapview hg38]
OMIM601071   603681   
Gene and transcription
Genbank (Entrez)AF107403 AF183185 AF183186 AF183187 AK296272
RefSeq transcript (Entrez)NM_001287489 NM_004802 NM_194248 NM_194322 NM_194323
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OTOF
Cluster EST : UnigeneHs.91608 [ NCBI ]
CGAP (NCI)Hs.91608
Alternative Splicing GalleryENSG00000115155
Gene ExpressionOTOF [ NCBI-GEO ]   OTOF [ EBI - ARRAY_EXPRESS ]   OTOF [ SEEK ]   OTOF [ MEM ]
Gene Expression Viewer (FireBrowse)OTOF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9381
GTEX Portal (Tissue expression)OTOF
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9HC10   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9HC10  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9HC10
Splice isoforms : SwissVarQ9HC10
PhosPhoSitePlusQ9HC10
Domaine pattern : Prosite (Expaxy)C2 (PS50004)   
Domains : Interpro (EBI)C2_dom    FerIin_dom    Ferlin_B-domain    Ferlin_C    Otoferlin   
Domain families : Pfam (Sanger)C2 (PF00168)    FerB (PF08150)    FerI (PF08151)    Ferlin_C (PF16165)   
Domain families : Pfam (NCBI)pfam00168    pfam08150    pfam08151    pfam16165   
Domain families : Smart (EMBL)C2 (SM00239)  FerB (SM01201)  FerI (SM01202)  
Conserved Domain (NCBI)OTOF
DMDM Disease mutations9381
Blocks (Seattle)OTOF
SuperfamilyQ9HC10
Human Protein AtlasENSG00000115155
Peptide AtlasQ9HC10
HPRD04727
IPIIPI00375559   IPI00216362   IPI00216364   IPI00216366   IPI00893506   IPI00923610   IPI01012676   IPI00893377   
Protein Interaction databases
DIP (DOE-UCLA)Q9HC10
IntAct (EBI)Q9HC10
FunCoupENSG00000115155
BioGRIDOTOF
STRING (EMBL)OTOF
ZODIACOTOF
Ontologies - Pathways
QuickGOQ9HC10
Ontology : AmiGOmolecular_function  calcium ion binding  endoplasmic reticulum membrane  cytosol  sensory perception of sound  integral component of membrane  synaptic vesicle exocytosis  basolateral plasma membrane  cell junction  synaptic vesicle membrane  membrane fusion  
Ontology : EGO-EBImolecular_function  calcium ion binding  endoplasmic reticulum membrane  cytosol  sensory perception of sound  integral component of membrane  synaptic vesicle exocytosis  basolateral plasma membrane  cell junction  synaptic vesicle membrane  membrane fusion  
NDEx NetworkOTOF
Atlas of Cancer Signalling NetworkOTOF
Wikipedia pathwaysOTOF
Orthology - Evolution
OrthoDB9381
GeneTree (enSembl)ENSG00000115155
Phylogenetic Trees/Animal Genes : TreeFamOTOF
HOVERGENQ9HC10
HOGENOMQ9HC10
Homologs : HomoloGeneOTOF
Homology/Alignments : Family Browser (UCSC)OTOF
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOTOF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OTOF
dbVarOTOF
ClinVarOTOF
1000_GenomesOTOF 
Exome Variant ServerOTOF
ExAC (Exome Aggregation Consortium)OTOF (select the gene name)
Genetic variants : HAPMAP9381
Genomic Variants (DGV)OTOF [DGVbeta]
DECIPHEROTOF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOTOF 
Mutations
ICGC Data PortalOTOF 
TCGA Data PortalOTOF 
Broad Tumor PortalOTOF
OASIS PortalOTOF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOTOF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOTOF
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)Retinal and hearing impairment genetic mutation database
LOVD (Leiden Open Variation Database)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch OTOF
DgiDB (Drug Gene Interaction Database)OTOF
DoCM (Curated mutations)OTOF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OTOF (select a term)
intoGenOTOF
Cancer3DOTOF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601071    603681   
Orphanet12047   
MedgenOTOF
Genetic Testing Registry OTOF
NextProtQ9HC10 [Medical]
TSGene9381
GENETestsOTOF
Target ValidationOTOF
Huge Navigator OTOF [HugePedia]
snp3D : Map Gene to Disease9381
BioCentury BCIQOTOF
ClinGenOTOF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9381
Chemical/Pharm GKB GenePA32841
Clinical trialOTOF
Miscellaneous
canSAR (ICR)OTOF (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOTOF
EVEXOTOF
GoPubMedOTOF
iHOPOTOF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:09:49 CEST 2017

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