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USH1C (Usher syndrome 1C (autosomal recessive, severe))

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
Location 11p15.1
Location_base_pair Starts at 17515442 and ends at 17565963 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

External links

Nomenclature
HGNC (Hugo)USH1C   12597
Cards
Entrez_Gene (NCBI)USH1C  10083  Usher syndrome 1C (autosomal recessive, severe)
GeneCards (Weizmann)USH1C
Ensembl (Hinxton)ENSG00000006611 [Gene_View]  chr11:17515442-17565963 [Contig_View]  USH1C [Vega]
ICGC DataPortalENSG00000006611
AceView (NCBI)USH1C
Genatlas (Paris)USH1C
WikiGenes10083
SOURCE (Princeton)NM_001297764 NM_005709 NM_153676
Genomic and cartography
GoldenPath (UCSC)USH1C  -  11p15.1   chr11:17515442-17565963 -  11p15.1   [Description]    (hg19-Feb_2009)
EnsemblUSH1C - 11p15.1 [CytoView]
Mapping of homologs : NCBIUSH1C [Mapview]
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)AC_000143 NC_000011 NC_018922 NG_011883 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)USH1C
Cluster EST : UnigeneHs.502072 [ NCBI ]
CGAP (NCI)Hs.502072
Alternative Splicing : Fast-db (Paris)GSHG0005624
Alternative Splicing GalleryENSG00000006611
Gene ExpressionUSH1C [ NCBI-GEO ]     USH1C [ SEEK ]   USH1C [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6N9 (Uniprot)
NextProtQ9Y6N9  [Medical]
With graphics : InterProQ9Y6N9
Splice isoforms : SwissVarQ9Y6N9 (Swissvar)
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ   
Related proteins : CluSTrQ9Y6N9
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
DMDM Disease mutations10083
Blocks (Seattle)Q9Y6N9
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   
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
IntegromeDBUSH1C
STRING (EMBL)USH1C
Ontologies - Pathways
QuickGOQ9Y6N9
Ontology : AmiGOG2/M transition of mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  sensory perception of sound  parallel actin filament bundle assembly  spectrin binding  stereocilium  inner ear morphogenesis  auditory receptor cell differentiation  apical part of cell  synapse  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  
Ontology : EGO-EBIG2/M transition of mitotic cell cycle  photoreceptor outer segment  photoreceptor inner segment  protein binding  cytoplasm  cytosol  cytoskeleton  plasma membrane  sensory perception of sound  parallel actin filament bundle assembly  spectrin binding  stereocilium  inner ear morphogenesis  auditory receptor cell differentiation  apical part of cell  synapse  photoreceptor cell maintenance  sensory perception of light stimulus  equilibrioception  
Pathways : BIOCARTAChaperones modulate interferon Signaling Pathway [Genes]   
Protein Interaction DatabaseUSH1C
Wikipedia pathwaysUSH1C
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)USH1C
SNP (GeneSNP Utah)USH1C
SNP : HGBaseUSH1C
Genetic variants : HAPMAPUSH1C
1000_GenomesUSH1C 
ICGC programENSG00000006611 
CONAN: Copy Number AnalysisUSH1C 
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
DECIPHER (Syndromes)11:17515442-17565963
Mutations and Diseases : HGMDUSH1C
OMIM276900    276904    602092    605242   
MedgenUSH1C
GENETestsUSH1C
Disease Genetic AssociationUSH1C
Huge Navigator USH1C [HugePedia]  USH1C [HugeCancerGEM]
Genomic VariantsUSH1C  USH1C [DGVbeta]
Exome VariantUSH1C
dbVarUSH1C
ClinVarUSH1C
snp3D : Map Gene to Disease10083
General knowledge
Homologs : HomoloGeneUSH1C
Homology/Alignments : Family Browser (UCSC)USH1C
Phylogenetic Trees/Animal Genes : TreeFamUSH1C
Chemical/Protein Interactions : CTD10083
Chemical/Pharm GKB GenePA37226
Clinical trialUSH1C
Cancer Resource (Charite)ENSG00000006611
Other databases
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
CoreMineUSH1C
GoPubMedUSH1C
iHOPUSH1C
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
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Nov 8 18:04:49 CET 2014

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