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USH1C (USH1 protein network component harmonin)

Identity

Alias_namesDFNB18
deafness, autosomal recessive 18
Usher syndrome 1C (autosomal recessive, severe)
Usher syndrome 1C
Alias_symbol (synonym)PDZ73
harmonin
NY-CO-37
NY-CO-38
PDZ-73
AIE-75
PDZD7C
Other aliasDFNB18A
PDZ-45
PDZ-73/NY-CO-38
ush1cpst
HGNC (Hugo) USH1C
LocusID (NCBI) 10083
Atlas_Id 53128
Location 11p15.1  [Link to chromosome band 11p15]
Location_base_pair Starts at 17493895 and ends at 17544416 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)
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]
Ensembl hg38 (Hinxton)ENSG00000006611 [Gene_View]  ENSG00000006611 [Sequence]  chr11:17493895-17544416 [Contig_View]  USH1C [Vega]
ICGC DataPortalENSG00000006611
TCGA cBioPortalUSH1C
AceView (NCBI)USH1C
Genatlas (Paris)USH1C
WikiGenes10083
SOURCE (Princeton)USH1C
Genetics Home Reference (NIH)USH1C
Genomic and cartography
GoldenPath hg38 (UCSC)USH1C  -     chr11:17493895-17544416 -  11p15.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)USH1C  -     11p15.1   [Description]    (hg19-Feb_2009)
GoldenPathUSH1C - 11p15.1 [CytoView hg19]  USH1C - 11p15.1 [CytoView hg38]
ImmunoBaseENSG00000006611
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)
Consensus coding sequences : CCDS (NCBI)USH1C
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]
BioGPS (Tissue expression)10083
GTEX Portal (Tissue expression)USH1C
Human Protein AtlasENSG00000006611-USH1C [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)USH1C
DMDM Disease mutations10083
Blocks (Seattle)USH1C
Human Protein Atlas [tissue]ENSG00000006611-USH1C [tissue]
HPRD09241
IPIIPI00215861   IPI00478519   IPI00478105   IPI00910900   IPI00017896   IPI00218195   IPI00412105   IPI00982280   
Protein Interaction databases
FunCoupENSG00000006611
BioGRIDUSH1C
STRING (EMBL)USH1C
ZODIACUSH1C
Ontologies - Pathways
Huge Navigator USH1C [HugePedia]
snp3D : Map Gene to Disease10083
BioCentury BCIQUSH1C
ClinGenUSH1C (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10083
Chemical/Pharm GKB GenePA37226
Clinical trialUSH1C
Miscellaneous
canSAR (ICR)USH1C (select the gene name)
DataMed IndexUSH1C
Probes
Litterature
PubMed67 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 : Wed Feb 19 17:15:44 CET 2020

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