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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. OTOF, otoferlin
Sequence ID:NM_004802
NM_194248
NM_194322
NM_194323
RefSeqGene ID:NG_009937
Entrez Gene ID:9381
Ensembl ID:ENSG00000115155

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
AUDITORY NEUROPATHY,AUTOSOMAL RECESSIVE, 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:2p23.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:2: 26680070 - 26700910

 Exon Info From UCSC:
NM_004802
NM_194248
NM_194322
NM_194323

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
100063639Full LengthBC156938otoferlin
100062389BC156051otoferlin

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_919303  NP_919304  NP_919224  NP_004793  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_004802 NP_004793   C2
FerB
NM_194248 NP_919224 Q9HC10 C2
FerB
FerI
NM_194322 NP_919303   C2
FerB
NM_194323 NP_919304   C2
FerB

Related Sequences

 
mRNAGenPeptSwissProt
AF107403 AAD26117 Q9HC10
AF183185 AAG12991 Q9HC10
AF183186 AAG12992 Q9HC10
AF183187 AAG17468 Q9HC10
BC156051 AAI56052  
BC156938 AAI56939  
EU436745 ACC68677 B9U4H0
EU436746 ACC68678 B9U4H1
AK296272 BAG58982 Q9HC10

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens OTOF NP_919224 M.musculus Otof 83762 Gene Info NP_114081 95
R.norvegicus Otof 84573   XP_001062291 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)