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TMIE (transmembrane inner ear)

Identity

Alias_namesDFNB6
deafness, autosomal recessive 6
Other alias
HGNC (Hugo) TMIE
LocusID (NCBI) 259236
Atlas_Id 74999
Location 3p21.31  [Link to chromosome band 3p21]
Location_base_pair Starts at 46701333 and ends at 46710923 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

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)TMIE   30800
Cards
Entrez_Gene (NCBI)TMIE  259236  transmembrane inner ear
AliasesDFNB6
GeneCards (Weizmann)TMIE
Ensembl hg19 (Hinxton)ENSG00000181585 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000181585 [Gene_View]  chr3:46701333-46710923 [Contig_View]  TMIE [Vega]
ICGC DataPortalENSG00000181585
TCGA cBioPortalTMIE
AceView (NCBI)TMIE
Genatlas (Paris)TMIE
WikiGenes259236
SOURCE (Princeton)TMIE
Genetics Home Reference (NIH)TMIE
Genomic and cartography
GoldenPath hg38 (UCSC)TMIE  -     chr3:46701333-46710923 +  3p21.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TMIE  -     3p21.31   [Description]    (hg19-Feb_2009)
EnsemblTMIE - 3p21.31 [CytoView hg19]  TMIE - 3p21.31 [CytoView hg38]
Mapping of homologs : NCBITMIE [Mapview hg19]  TMIE [Mapview hg38]
OMIM600971   607237   
Gene and transcription
Genbank (Entrez)AY081842 BC126258 BC126260 BM696323 F22661
RefSeq transcript (Entrez)NM_147196
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TMIE
Cluster EST : UnigeneHs.185777 [ NCBI ]
CGAP (NCI)Hs.185777
Alternative Splicing GalleryENSG00000181585
Gene ExpressionTMIE [ NCBI-GEO ]   TMIE [ EBI - ARRAY_EXPRESS ]   TMIE [ SEEK ]   TMIE [ MEM ]
Gene Expression Viewer (FireBrowse)TMIE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)259236
GTEX Portal (Tissue expression)TMIE
Human Protein AtlasENSG00000181585-TMIE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NEW7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NEW7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NEW7
Splice isoforms : SwissVarQ8NEW7
PhosPhoSitePlusQ8NEW7
Domains : Interpro (EBI)TMIE   
Domain families : Pfam (Sanger)TMIE (PF16038)   
Domain families : Pfam (NCBI)pfam16038   
Conserved Domain (NCBI)TMIE
DMDM Disease mutations259236
Blocks (Seattle)TMIE
SuperfamilyQ8NEW7
Human Protein Atlas [tissue]ENSG00000181585-TMIE [tissue]
Peptide AtlasQ8NEW7
HPRD06252
IPIIPI00168780   
Protein Interaction databases
DIP (DOE-UCLA)Q8NEW7
IntAct (EBI)Q8NEW7
FunCoupENSG00000181585
BioGRIDTMIE
STRING (EMBL)TMIE
ZODIACTMIE
Ontologies - Pathways
QuickGOQ8NEW7
Ontology : AmiGOsensory perception of sound  integral component of membrane  inner ear morphogenesis  
Ontology : EGO-EBIsensory perception of sound  integral component of membrane  inner ear morphogenesis  
NDEx NetworkTMIE
Atlas of Cancer Signalling NetworkTMIE
Wikipedia pathwaysTMIE
Orthology - Evolution
OrthoDB259236
GeneTree (enSembl)ENSG00000181585
Phylogenetic Trees/Animal Genes : TreeFamTMIE
HOVERGENQ8NEW7
HOGENOMQ8NEW7
Homologs : HomoloGeneTMIE
Homology/Alignments : Family Browser (UCSC)TMIE
Gene fusions - Rearrangements
Fusion: Tumor Portal TMIE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTMIE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TMIE
dbVarTMIE
ClinVarTMIE
1000_GenomesTMIE 
Exome Variant ServerTMIE
ExAC (Exome Aggregation Consortium)ENSG00000181585
GNOMAD BrowserENSG00000181585
Genetic variants : HAPMAP259236
Genomic Variants (DGV)TMIE [DGVbeta]
DECIPHERTMIE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTMIE 
Mutations
ICGC Data PortalTMIE 
TCGA Data PortalTMIE 
Broad Tumor PortalTMIE
OASIS PortalTMIE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTMIE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTMIE
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)**PUBLIC** CCHMC Molecular Genetics Laboratory Mutation Database
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TMIE
DgiDB (Drug Gene Interaction Database)TMIE
DoCM (Curated mutations)TMIE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TMIE (select a term)
intoGenTMIE
Cancer3DTMIE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600971    607237   
Orphanet12047   
MedgenTMIE
Genetic Testing Registry TMIE
NextProtQ8NEW7 [Medical]
TSGene259236
GENETestsTMIE
Target ValidationTMIE
Huge Navigator TMIE [HugePedia]
snp3D : Map Gene to Disease259236
BioCentury BCIQTMIE
ClinGenTMIE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD259236
Chemical/Pharm GKB GenePA134972473
Clinical trialTMIE
Miscellaneous
canSAR (ICR)TMIE (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTMIE
EVEXTMIE
GoPubMedTMIE
iHOPTMIE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Nov 9 12:33:24 CET 2017

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