Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

COCH (cochlin)

Identity

Other namesCOCH-5B2
COCH5B2
DFNA9
HGNC (Hugo) COCH
LocusID (NCBI) 1690
Atlas_Id 40121
Location 14q12  [Link to chromosome band 14q12]
Location_base_pair Starts at 31343741 and ends at 31359822 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
COCH (14q12) / GOLGA3 (12q24.33)COCH (14q12) / LINC00299 (2p25.1)LOC339685 () / COCH (14q12)

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
AliasesCOCH-5B2; COCH5B2; DFNA9
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 GalleryENSG00000100473
Gene ExpressionCOCH [ NCBI-GEO ]   COCH [ EBI - ARRAY_EXPRESS ]   COCH [ SEEK ]   COCH [ MEM ]
Gene Expression Viewer (FireBrowse)COCH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1690
GTEX Portal (Tissue expression)COCH
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43405 (Uniprot)
NextProtO43405  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43405
Splice isoforms : SwissVarO43405 (Swissvar)
PhosPhoSitePlusO43405
Domaine pattern : Prosite (Expaxy)LCCL (PS50820)    VWFA (PS50234)   
Domains : Interpro (EBI)Cochlin    LCCL    VWF_A   
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)COCH
PDB (SRS)1JBI   
PDB (PDBSum)1JBI   
PDB (IMB)1JBI   
PDB (RSDB)1JBI   
Structural Biology KnowledgeBase1JBI   
SCOP (Structural Classification of Proteins)1JBI   
CATH (Classification of proteins structures)1JBI   
SuperfamilyO43405
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
STRING (EMBL)COCH
ZODIACCOCH
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  
NDEx NetworkCOCH
Atlas of Cancer Signalling NetworkCOCH
Wikipedia pathwaysCOCH
Orthology - Evolution
OrthoDB1690
GeneTree (enSembl)ENSG00000100473
Phylogenetic Trees/Animal Genes : TreeFamCOCH
Homologs : HomoloGeneCOCH
Homology/Alignments : Family Browser (UCSC)COCH
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerCOCH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COCH
dbVarCOCH
ClinVarCOCH
1000_GenomesCOCH 
Exome Variant ServerCOCH
ExAC (Exome Aggregation Consortium)COCH (select the gene name)
Genetic variants : HAPMAP1690
Genomic Variants (DGV)COCH [DGVbeta]
Mutations
ICGC Data PortalCOCH 
TCGA Data PortalCOCH 
Broad Tumor PortalCOCH
OASIS PortalCOCH [ Somatic mutations - Copy number]
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
BioMutasearch COCH
DgiDB (Drug Gene Interaction Database)COCH
DoCM (Curated mutations)COCH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COCH (select a term)
intoGenCOCH
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)14:31343741-31359822  ENSG00000100473
CONAN: Copy Number AnalysisCOCH 
Mutations and Diseases : HGMDCOCH
OMIM601369    603196   
MedgenCOCH
Genetic Testing Registry COCH
NextProtO43405 [Medical]
TSGene1690
GENETestsCOCH
Huge Navigator COCH [HugePedia]
snp3D : Map Gene to Disease1690
BioCentury BCIQCOCH
ClinGenCOCH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1690
Chemical/Pharm GKB GenePA26693
Clinical trialCOCH
Miscellaneous
canSAR (ICR)COCH (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOCH
EVEXCOCH
GoPubMedCOCH
iHOPCOCH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Sep 19 18:43:19 CEST 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.