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TMC1 (transmembrane channel like 1)

Identity

Alias_namesDFNA36
DFNB7
DFNB11
transmembrane, cochlear expressed, 1
Other alias
HGNC (Hugo) TMC1
LocusID (NCBI) 117531
Atlas_Id 74743
Location 9q21.13  [Link to chromosome band 9q21]
Location_base_pair Starts at 72521801 and ends at 72836351 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MVB12B (9q33.3) / TMC1 (9q21.13)PDZRN3 (3p13) / TMC1 (9q21.13)TMC1 (9q21.13) / CAST (5q15)
PDZRN3 TMC1FAM125B TMC1

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)TMC1   16513
Cards
Entrez_Gene (NCBI)TMC1  117531  transmembrane channel like 1
AliasesDFNA36; DFNB11; DFNB7
GeneCards (Weizmann)TMC1
Ensembl hg19 (Hinxton)ENSG00000165091 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165091 [Gene_View]  chr9:72521801-72836351 [Contig_View]  TMC1 [Vega]
ICGC DataPortalENSG00000165091
TCGA cBioPortalTMC1
AceView (NCBI)TMC1
Genatlas (Paris)TMC1
WikiGenes117531
SOURCE (Princeton)TMC1
Genetics Home Reference (NIH)TMC1
Genomic and cartography
GoldenPath hg38 (UCSC)TMC1  -     chr9:72521801-72836351 +  9q21.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMC1  -     9q21.13   [Description]    (hg19-Feb_2009)
EnsemblTMC1 - 9q21.13 [CytoView hg19]  TMC1 - 9q21.13 [CytoView hg38]
Mapping of homologs : NCBITMC1 [Mapview hg19]  TMC1 [Mapview hg38]
OMIM600974   606705   606706   
Gene and transcription
Genbank (Entrez)AF417578 AK098607 AK307461 BC103955 BC103956
RefSeq transcript (Entrez)NM_138691
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMC1
Cluster EST : UnigeneHs.670211 [ NCBI ]
CGAP (NCI)Hs.670211
Alternative Splicing GalleryENSG00000165091
Gene ExpressionTMC1 [ NCBI-GEO ]   TMC1 [ EBI - ARRAY_EXPRESS ]   TMC1 [ SEEK ]   TMC1 [ MEM ]
Gene Expression Viewer (FireBrowse)TMC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117531
GTEX Portal (Tissue expression)TMC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8TDI8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8TDI8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8TDI8
Splice isoforms : SwissVarQ8TDI8
PhosPhoSitePlusQ8TDI8
Domains : Interpro (EBI)TMC   
Domain families : Pfam (Sanger)TMC (PF07810)   
Domain families : Pfam (NCBI)pfam07810   
Conserved Domain (NCBI)TMC1
DMDM Disease mutations117531
Blocks (Seattle)TMC1
SuperfamilyQ8TDI8
Human Protein AtlasENSG00000165091
Peptide AtlasQ8TDI8
HPRD05988
IPIIPI00291387   IPI01009169   IPI00747836   IPI01011976   IPI01009636   
Protein Interaction databases
DIP (DOE-UCLA)Q8TDI8
IntAct (EBI)Q8TDI8
FunCoupENSG00000165091
BioGRIDTMC1
STRING (EMBL)TMC1
ZODIACTMC1
Ontologies - Pathways
QuickGOQ8TDI8
Ontology : AmiGOvoltage-gated calcium channel activity  mechanically-gated ion channel activity  external side of plasma membrane  integral component of membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  vestibular reflex  auditory receptor cell development  calcium ion transmembrane transport  regulation of calcium ion transmembrane transport  
Ontology : EGO-EBIvoltage-gated calcium channel activity  mechanically-gated ion channel activity  external side of plasma membrane  integral component of membrane  stereocilium tip  detection of mechanical stimulus involved in sensory perception of sound  vestibular reflex  auditory receptor cell development  calcium ion transmembrane transport  regulation of calcium ion transmembrane transport  
NDEx NetworkTMC1
Atlas of Cancer Signalling NetworkTMC1
Wikipedia pathwaysTMC1
Orthology - Evolution
OrthoDB117531
GeneTree (enSembl)ENSG00000165091
Phylogenetic Trees/Animal Genes : TreeFamTMC1
HOVERGENQ8TDI8
HOGENOMQ8TDI8
Homologs : HomoloGeneTMC1
Homology/Alignments : Family Browser (UCSC)TMC1
Gene fusions - Rearrangements
Fusion: TCGAPDZRN3 TMC1
Fusion: TCGAFAM125B TMC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMC1
dbVarTMC1
ClinVarTMC1
1000_GenomesTMC1 
Exome Variant ServerTMC1
ExAC (Exome Aggregation Consortium)TMC1 (select the gene name)
Genetic variants : HAPMAP117531
Genomic Variants (DGV)TMC1 [DGVbeta]
DECIPHERTMC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMC1 
Mutations
ICGC Data PortalTMC1 
TCGA Data PortalTMC1 
Broad Tumor PortalTMC1
OASIS PortalTMC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMC1
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 TMC1
DgiDB (Drug Gene Interaction Database)TMC1
DoCM (Curated mutations)TMC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMC1 (select a term)
intoGenTMC1
Cancer3DTMC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600974    606705    606706   
Orphanet12046    12047   
MedgenTMC1
Genetic Testing Registry TMC1
NextProtQ8TDI8 [Medical]
TSGene117531
GENETestsTMC1
Target ValidationTMC1
Huge Navigator TMC1 [HugePedia]
snp3D : Map Gene to Disease117531
BioCentury BCIQTMC1
ClinGenTMC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117531
Chemical/Pharm GKB GenePA38156
Clinical trialTMC1
Miscellaneous
canSAR (ICR)TMC1 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMC1
EVEXTMC1
GoPubMedTMC1
iHOPTMC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:45:41 CEST 2017

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