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
Atlas_Id 40121
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 hg19 (Hinxton)ENSG00000100473 [Gene_View]  chr14:31343741-31359822 [Contig_View]  COCH [Vega]
Ensembl hg38 (Hinxton)ENSG00000100473 [Gene_View]  chr14:31343741-31359822 [Contig_View]  COCH [Vega]
ICGC DataPortalENSG00000100473
TCGA cBioPortalCOCH
AceView (NCBI)COCH
Genatlas (Paris)COCH
WikiGenes1690
SOURCE (Princeton)COCH
Genomic and cartography
GoldenPath hg19 (UCSC)COCH  -     chr14:31343741-31359822 +  14q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)COCH  -     14q12   [Description]    (hg38-Dec_2013)
EnsemblCOCH - 14q12 [CytoView hg19]  COCH - 14q12 [CytoView hg38]
Mapping of homologs : NCBICOCH [Mapview hg19]  COCH [Mapview hg38]
OMIM601369   603196   
Gene and transcription
Genbank (Entrez)AF006740 AK123362 AK130273 AK292724 AW629100
RefSeq transcript (Entrez)NM_001135058 NM_004086
RefSeq genomic (Entrez)NC_000014 NC_018925 NG_008211 NT_026437 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 ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
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    VWF_A   
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
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
IntegromeDBCOCH
STRING (EMBL)COCH
Ontologies - Pathways
QuickGOO43405
Ontology : AmiGOprotein binding  collagen binding  proteinaceous extracellular matrix  sensory perception of sound  regulation of cell shape  extracellular matrix  defense response to bacterium  positive regulation of innate immune response  extracellular exosome  
Ontology : EGO-EBIprotein binding  collagen binding  proteinaceous extracellular matrix  sensory perception of sound  regulation of cell shape  extracellular matrix  defense response to bacterium  positive regulation of innate immune response  extracellular exosome  
Protein Interaction DatabaseCOCH
DoCM (Curated mutations)COCH
Wikipedia pathwaysCOCH
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerCOCH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COCH
dbVarCOCH
ClinVarCOCH
1000_GenomesCOCH 
Exome Variant ServerCOCH
SNP (GeneSNP Utah)COCH
SNP : HGBaseCOCH
Genetic variants : HAPMAPCOCH
Genomic Variants (DGV)COCH [DGVbeta]
Mutations
ICGC Data PortalCOCH 
TCGA Data PortalCOCH 
Tumor PortalCOCH
Somatic Mutations in Cancer : COSMICCOCH 
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:31343741-31359822
CONAN: Copy Number AnalysisCOCH 
Mutations and Diseases : HGMDCOCH
OMIM601369    603196   
MedgenCOCH
NextProtO43405 [Medical]
GENETestsCOCH
Disease Genetic AssociationCOCH
Huge Navigator COCH [HugePedia]  COCH [HugeCancerGEM]
snp3D : Map Gene to Disease1690
DGIdb (Drug Gene Interaction db)COCH
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
PubMed52 Pubmed reference(s) in Entrez
CoreMineCOCH
GoPubMedCOCH
iHOPCOCH
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
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 20 19:03:22 CEST 2015

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