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CLRN1 (clarin 1)

Identity

Alias_namesUSH3
USH3A
RP61
Usher syndrome 3A
Other alias
HGNC (Hugo) CLRN1
LocusID (NCBI) 7401
Atlas_Id 61903
Location 3q25.1  [Link to chromosome band 3q25]
Location_base_pair Starts at 150926567 and ends at 150972999 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)CLRN1   12605
LRG (Locus Reference Genomic)LRG_700
Cards
Entrez_Gene (NCBI)CLRN1  7401  clarin 1
AliasesRP61; USH3; USH3A
GeneCards (Weizmann)CLRN1
Ensembl hg19 (Hinxton)ENSG00000163646 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163646 [Gene_View]  chr3:150926567-150972999 [Contig_View]  CLRN1 [Vega]
ICGC DataPortalENSG00000163646
TCGA cBioPortalCLRN1
AceView (NCBI)CLRN1
Genatlas (Paris)CLRN1
WikiGenes7401
SOURCE (Princeton)CLRN1
Genetics Home Reference (NIH)CLRN1
Genomic and cartography
GoldenPath hg38 (UCSC)CLRN1  -     chr3:150926567-150972999 -  3q25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLRN1  -     3q25.1   [Description]    (hg19-Feb_2009)
EnsemblCLRN1 - 3q25.1 [CytoView hg19]  CLRN1 - 3q25.1 [CytoView hg38]
Mapping of homologs : NCBICLRN1 [Mapview hg19]  CLRN1 [Mapview hg38]
OMIM268000   276902   606397   614180   
Gene and transcription
Genbank (Entrez)AF388366 AF388368 AF482697 AF495717 BC074970
RefSeq transcript (Entrez)NM_001195794 NM_001256819 NM_052995 NM_174878 NM_174880
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLRN1
Cluster EST : UnigeneHs.745448 [ NCBI ]
CGAP (NCI)Hs.745448
Alternative Splicing GalleryENSG00000163646
Gene ExpressionCLRN1 [ NCBI-GEO ]   CLRN1 [ EBI - ARRAY_EXPRESS ]   CLRN1 [ SEEK ]   CLRN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLRN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7401
GTEX Portal (Tissue expression)CLRN1
Human Protein AtlasENSG00000163646-CLRN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP58418   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP58418  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP58418
Splice isoforms : SwissVarP58418
PhosPhoSitePlusP58418
Domains : Interpro (EBI)Clarin   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CLRN1
DMDM Disease mutations7401
Blocks (Seattle)CLRN1
SuperfamilyP58418
Human Protein Atlas [tissue]ENSG00000163646-CLRN1 [tissue]
Peptide AtlasP58418
HPRD05905
IPIIPI00048232   IPI00166977   IPI00216278   IPI00981935   IPI00946425   IPI00946680   
Protein Interaction databases
DIP (DOE-UCLA)P58418
IntAct (EBI)P58418
FunCoupENSG00000163646
BioGRIDCLRN1
STRING (EMBL)CLRN1
ZODIACCLRN1
Ontologies - Pathways
QuickGOP58418
Ontology : AmiGOmicrotubule  plasma membrane  microvillus  actin filament organization  visual perception  sensory perception of sound  positive regulation of lamellipodium assembly  integral component of membrane  lamellipodium  trans-Golgi network transport vesicle  stereocilium  basal part of cell  photoreceptor cell maintenance  cell motility  response to stimulus  sensory perception of light stimulus  equilibrioception  auditory receptor cell stereocilium organization  
Ontology : EGO-EBImicrotubule  plasma membrane  microvillus  actin filament organization  visual perception  sensory perception of sound  positive regulation of lamellipodium assembly  integral component of membrane  lamellipodium  trans-Golgi network transport vesicle  stereocilium  basal part of cell  photoreceptor cell maintenance  cell motility  response to stimulus  sensory perception of light stimulus  equilibrioception  auditory receptor cell stereocilium organization  
NDEx NetworkCLRN1
Atlas of Cancer Signalling NetworkCLRN1
Wikipedia pathwaysCLRN1
Orthology - Evolution
OrthoDB7401
GeneTree (enSembl)ENSG00000163646
Phylogenetic Trees/Animal Genes : TreeFamCLRN1
HOVERGENP58418
HOGENOMP58418
Homologs : HomoloGeneCLRN1
Homology/Alignments : Family Browser (UCSC)CLRN1
Gene fusions - Rearrangements
Fusion: Tumor Portal CLRN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLRN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLRN1
dbVarCLRN1
ClinVarCLRN1
1000_GenomesCLRN1 
Exome Variant ServerCLRN1
ExAC (Exome Aggregation Consortium)ENSG00000163646
GNOMAD BrowserENSG00000163646
Genetic variants : HAPMAP7401
Genomic Variants (DGV)CLRN1 [DGVbeta]
DECIPHERCLRN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLRN1 
Mutations
ICGC Data PortalCLRN1 
TCGA Data PortalCLRN1 
Broad Tumor PortalCLRN1
OASIS PortalCLRN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLRN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLRN1
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 CLRN1
DgiDB (Drug Gene Interaction Database)CLRN1
DoCM (Curated mutations)CLRN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLRN1 (select a term)
intoGenCLRN1
Cancer3DCLRN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM268000    276902    606397    614180   
Orphanet659    19169   
MedgenCLRN1
Genetic Testing Registry CLRN1
NextProtP58418 [Medical]
TSGene7401
GENETestsCLRN1
Target ValidationCLRN1
Huge Navigator CLRN1 [HugePedia]
snp3D : Map Gene to Disease7401
BioCentury BCIQCLRN1
ClinGenCLRN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7401
Chemical/Pharm GKB GenePA37231
Clinical trialCLRN1
Miscellaneous
canSAR (ICR)CLRN1 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLRN1
EVEXCLRN1
GoPubMedCLRN1
iHOPCLRN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Nov 9 11:42:51 CET 2017

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