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USH1C (USH1 protein network component harmonin)

Identity

Other namesAIE-75
DFNB18
DFNB18A
NY-CO-37
NY-CO-38
PDZ-45
PDZ-73
PDZ-73/NY-CO-38
PDZ73
PDZD7C
ush1cpst
HGNC (Hugo) USH1C
LocusID (NCBI) 10083
Atlas_Id 53128
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 17515442 and ends at 17565963 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
USH1C (11p15.1) / MTCH1 (6p21.2)USH1C (11p15.1) / SRPRA (11q24.2)USH1C (11p15.1) / USH1C (11p15.1)

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)USH1C   12597
Cards
Entrez_Gene (NCBI)USH1C  10083  USH1 protein network component harmonin
AliasesAIE-75; DFNB18; DFNB18A; NY-CO-37; 
NY-CO-38; PDZ-45; PDZ-73; PDZ-73/NY-CO-38; PDZ73; PDZD7C; ush1cpst
GeneCards (Weizmann)USH1C
Ensembl hg19 (Hinxton)ENSG00000006611 [Gene_View]  chr11:17515442-17565963 [Contig_View]  USH1C [Vega]
Ensembl hg38 (Hinxton)ENSG00000006611 [Gene_View]  chr11:17515442-17565963 [Contig_View]  USH1C [Vega]
ICGC DataPortalENSG00000006611
TCGA cBioPortalUSH1C
AceView (NCBI)USH1C
Genatlas (Paris)USH1C
WikiGenes10083
SOURCE (Princeton)USH1C
Genomic and cartography
GoldenPath hg19 (UCSC)USH1C  -     chr11:17515442-17565963 -  11p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)USH1C  -     11p15.1   [Description]    (hg38-Dec_2013)
EnsemblUSH1C - 11p15.1 [CytoView hg19]  USH1C - 11p15.1 [CytoView hg38]
Mapping of homologs : NCBIUSH1C [Mapview hg19]  USH1C [Mapview hg38]
OMIM276900   276904   602092   605242   
Gene and transcription
Genbank (Entrez)AB006955 AB018687 AF039699 AF039700 AK024943
RefSeq transcript (Entrez)NM_001297764 NM_005709 NM_153676
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_011883 NT_009237 NW_004929378
Consensus coding sequences : CCDS (NCBI)USH1C
Cluster EST : UnigeneHs.502072 [ NCBI ]
CGAP (NCI)Hs.502072
Alternative Splicing GalleryENSG00000006611
Gene ExpressionUSH1C [ NCBI-GEO ]   USH1C [ EBI - ARRAY_EXPRESS ]   USH1C [ SEEK ]   USH1C [ MEM ]
Gene Expression Viewer (FireBrowse)USH1C [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10083
GTEX Portal (Tissue expression)USH1C
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6N9 (Uniprot)
NextProtQ9Y6N9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6N9
Splice isoforms : SwissVarQ9Y6N9 (Swissvar)
PhosPhoSitePlusQ9Y6N9
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)Harmonin    PDZ   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
DMDM Disease mutations10083
Blocks (Seattle)USH1C
PDB (SRS)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
PDB (PDBSum)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
PDB (IMB)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
PDB (RSDB)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
Structural Biology KnowledgeBase1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
SCOP (Structural Classification of Proteins)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
CATH (Classification of proteins structures)1X5N    2KBQ    2KBR    2KBS    2LSR    3K1R   
SuperfamilyQ9Y6N9
Human Protein AtlasENSG00000006611
Peptide AtlasQ9Y6N9
HPRD09241
IPIIPI00215861   IPI00478519   IPI00478105   IPI00910900   IPI00017896   IPI00218195   IPI00412105   IPI00982280   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6N9
IntAct (EBI)Q9Y6N9
FunCoupENSG00000006611
BioGRIDUSH1C
STRING (EMBL)USH1C
ZODIACUSH1C
Ontologies - Pathways
QuickGOQ9Y6N9
Ontology : AmiGOG2/M transition of mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  microvillus  brush border  sensory perception of sound  cell differentiation  spectrin binding  myosin tail binding  stereocilium  regulation of microvillus length  cellular protein complex assembly  apical part of cell  synapse  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  actin filament binding  protein localization to microvillus  brush border assembly  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  microvillus  brush border  sensory perception of sound  cell differentiation  spectrin binding  myosin tail binding  stereocilium  regulation of microvillus length  cellular protein complex assembly  apical part of cell  synapse  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  actin filament binding  protein localization to microvillus  brush border assembly  
Pathways : BIOCARTAChaperones modulate interferon Signaling Pathway [Genes]   
NDEx NetworkUSH1C
Atlas of Cancer Signalling NetworkUSH1C
Wikipedia pathwaysUSH1C
Orthology - Evolution
OrthoDB10083
GeneTree (enSembl)ENSG00000006611
Phylogenetic Trees/Animal Genes : TreeFamUSH1C
Homologs : HomoloGeneUSH1C
Homology/Alignments : Family Browser (UCSC)USH1C
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerUSH1C [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)USH1C
dbVarUSH1C
ClinVarUSH1C
1000_GenomesUSH1C 
Exome Variant ServerUSH1C
ExAC (Exome Aggregation Consortium)USH1C (select the gene name)
Genetic variants : HAPMAP10083
Genomic Variants (DGV)USH1C [DGVbeta]
Mutations
ICGC Data PortalUSH1C 
TCGA Data PortalUSH1C 
Broad Tumor PortalUSH1C
OASIS PortalUSH1C [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICUSH1C 
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 USH1C
DgiDB (Drug Gene Interaction Database)USH1C
DoCM (Curated mutations)USH1C (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)USH1C (select a term)
intoGenUSH1C
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)11:17515442-17565963  ENSG00000006611
CONAN: Copy Number AnalysisUSH1C 
Mutations and Diseases : HGMDUSH1C
OMIM276900    276904    602092    605242   
MedgenUSH1C
Genetic Testing Registry USH1C
NextProtQ9Y6N9 [Medical]
TSGene10083
GENETestsUSH1C
Huge Navigator USH1C [HugePedia]
snp3D : Map Gene to Disease10083
BioCentury BCIQUSH1C
ClinGenUSH1C
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10083
Chemical/Pharm GKB GenePA37226
Clinical trialUSH1C
Miscellaneous
canSAR (ICR)USH1C (select the gene name)
Probes
Litterature
PubMed55 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineUSH1C
EVEXUSH1C
GoPubMedUSH1C
iHOPUSH1C
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:19:03 CEST 2016

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