Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COCH (cochlin)

Identity

Other namesCOCH-5B2
COCH5B2
DFNA9
HGNC (Hugo) COCH
LocusID (NCBI) 1690
Location 14q12
Location_base_pair Starts at 31343741 and ends at 31359822 bp from pter ( according to hg19-Feb_2009)
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)COCH   2180
Cards
Entrez_Gene (NCBI)COCH  1690  cochlin
GeneCards (Weizmann)COCH
Ensembl (Hinxton)ENSG00000100473 [Gene_View]  chr14:31343741-31359822 [Contig_View]  COCH [Vega]
ICGC DataPortalENSG00000100473
cBioPortalCOCH
AceView (NCBI)COCH
Genatlas (Paris)COCH
WikiGenes1690
SOURCE (Princeton)NM_001135058 NM_004086
Genomic and cartography
GoldenPath (UCSC)COCH  -  14q12   chr14:31343741-31359822 +  14q12   [Description]    (hg19-Feb_2009)
EnsemblCOCH - 14q12 [CytoView]
Mapping of homologs : NCBICOCH [Mapview]
OMIM601369   603196   
Gene and transcription
Genbank (Entrez)AF006740 AK123362 AK130273 AK292724 AW629100
RefSeq transcript (Entrez)NM_001135058 NM_004086
RefSeq genomic (Entrez)AC_000146 NC_000014 NC_018925 NG_008211 NT_026437 NW_001838110 NW_004929393
Consensus coding sequences : CCDS (NCBI)COCH
Cluster EST : UnigeneHs.21016 [ NCBI ]
CGAP (NCI)Hs.21016
Alternative Splicing : Fast-db (Paris)GSHG0008768
Alternative Splicing GalleryENSG00000100473
Gene ExpressionCOCH [ NCBI-GEO ]     COCH [ SEEK ]   COCH [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43405 (Uniprot)
NextProtO43405  [Medical]
With graphics : InterProO43405
Splice isoforms : SwissVarO43405 (Swissvar)
Domaine pattern : Prosite (Expaxy)LCCL (PS50820)    VWFA (PS50234)   
Domains : Interpro (EBI)LCCL [organisation]   VWF_A [organisation]  
Related proteins : CluSTrO43405
Domain families : Pfam (Sanger)LCCL (PF03815)    VWA (PF00092)   
Domain families : Pfam (NCBI)pfam03815    pfam00092   
Domain families : Smart (EMBL)LCCL (SM00603)  VWA (SM00327)  
DMDM Disease mutations1690
Blocks (Seattle)O43405
PDB (SRS)1JBI   
PDB (PDBSum)1JBI   
PDB (IMB)1JBI   
PDB (RSDB)1JBI   
Human Protein AtlasENSG00000100473 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasO43405
HPRD04431
IPIIPI00012386   IPI01015953   IPI00442755   IPI01026064   IPI01026547   IPI01026205   IPI01026309   IPI01025717   IPI01025826   IPI01025470   
Protein Interaction databases
DIP (DOE-UCLA)O43405
IntAct (EBI)O43405
FunCoupENSG00000100473
BioGRIDCOCH
InParanoidO43405
Interologous Interaction database O43405
IntegromeDBCOCH
STRING (EMBL)COCH
Ontologies - Pathways
Ontology : AmiGOprotein binding  proteinaceous extracellular matrix  sensory perception of sound  regulation of cell shape  extracellular vesicular exosome  
Ontology : EGO-EBIprotein binding  proteinaceous extracellular matrix  sensory perception of sound  regulation of cell shape  extracellular vesicular exosome  
Protein Interaction DatabaseCOCH
Wikipedia pathwaysCOCH
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COCH
snp3D : Map Gene to Disease1690
SNP (GeneSNP Utah)COCH
SNP : HGBaseCOCH
Genetic variants : HAPMAPCOCH
Exome VariantCOCH
1000_GenomesCOCH 
ICGC programENSG00000100473 
Somatic Mutations in Cancer : COSMICCOCH 
CONAN: Copy Number AnalysisCOCH 
Mutations and Diseases : HGMDCOCH
Genomic VariantsCOCH  COCH [DGVbeta]
dbVarCOCH
ClinVarCOCH
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM601369    603196   
MedgenCOCH
GENETestsCOCH
Disease Genetic AssociationCOCH
Huge Navigator COCH [HugePedia]  COCH [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneCOCH
Homology/Alignments : Family Browser (UCSC)COCH
Phylogenetic Trees/Animal Genes : TreeFamCOCH
Chemical/Protein Interactions : CTD1690
Chemical/Pharm GKB GenePA26693
Clinical trialCOCH
Cancer Resource (Charite)ENSG00000100473
Other databases
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
CoreMineCOCH
iHOPCOCH
OncoSearchCOCH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Jul 26 14:28:03 CEST 2014

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