Atlas of Genetics and Cytogenetics in Oncology and Haematology

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LCA5 (lebercilin LCA5)

Identity

Alias (NCBI)C6orf152
HGNC (Hugo) LCA5
HGNC Previous nameC6orf152
HGNC Previous namechromosome 6 open reading frame 152
 Leber congenital amaurosis 5
LocusID (NCBI) 167691
Atlas_Id 65186
Location 6q14.1  [Link to chromosome band 6q14]
Location_base_pair Starts at 79484991 and ends at 79537430 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)LCA5   31923
Cards
Entrez_Gene (NCBI)LCA5  167691  lebercilin LCA5
AliasesC6orf152
GeneCards (Weizmann)LCA5
Ensembl hg19 (Hinxton)ENSG00000135338 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135338 [Gene_View]  ENSG00000135338 [Sequence]  chr6:79484991-79537430 [Contig_View]  LCA5 [Vega]
ICGC DataPortalENSG00000135338
TCGA cBioPortalLCA5
AceView (NCBI)LCA5
Genatlas (Paris)LCA5
WikiGenes167691
SOURCE (Princeton)LCA5
Genetics Home Reference (NIH)LCA5
Genomic and cartography
GoldenPath hg38 (UCSC)LCA5  -     chr6:79484991-79537430 -  6q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LCA5  -     6q14.1   [Description]    (hg19-Feb_2009)
GoldenPathLCA5 - 6q14.1 [CytoView hg19]  LCA5 - 6q14.1 [CytoView hg38]
ImmunoBaseENSG00000135338
genome Data Viewer NCBILCA5 [Mapview hg19]  
OMIM604537   611408   
Gene and transcription
Genbank (Entrez)AK299314 AL832214 BC050327 BE883302 BX648161
RefSeq transcript (Entrez)NM_001122769 NM_181714
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LCA5
Alternative Splicing GalleryENSG00000135338
Gene ExpressionLCA5 [ NCBI-GEO ]   LCA5 [ EBI - ARRAY_EXPRESS ]   LCA5 [ SEEK ]   LCA5 [ MEM ]
Gene Expression Viewer (FireBrowse)LCA5 [ Firebrowse - Broad ]
GenevisibleExpression of LCA5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)167691
GTEX Portal (Tissue expression)LCA5
Human Protein AtlasENSG00000135338-LCA5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86VQ0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86VQ0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86VQ0
Splice isoforms : SwissVarQ86VQ0
PhosPhoSitePlusQ86VQ0
Domains : Interpro (EBI)Lebercilin    Lebercilin-like    Lebercilin_dom   
Domain families : Pfam (Sanger)Lebercilin (PF15619)   
Domain families : Pfam (NCBI)pfam15619   
Conserved Domain (NCBI)LCA5
DMDM Disease mutations167691
Blocks (Seattle)LCA5
SuperfamilyQ86VQ0
Human Protein Atlas [tissue]ENSG00000135338-LCA5 [tissue]
Peptide AtlasQ86VQ0
HPRD10791
IPIIPI00334013   IPI00910265   
Protein Interaction databases
DIP (DOE-UCLA)Q86VQ0
IntAct (EBI)Q86VQ0
FunCoupENSG00000135338
BioGRIDLCA5
STRING (EMBL)LCA5
ZODIACLCA5
Ontologies - Pathways
QuickGOQ86VQ0
Ontology : AmiGOprotein binding  cilium  axoneme  photoreceptor connecting cilium  ciliary basal body  intraciliary transport  protein-containing complex binding  photoreceptor cell maintenance  
Ontology : EGO-EBIprotein binding  cilium  axoneme  photoreceptor connecting cilium  ciliary basal body  intraciliary transport  protein-containing complex binding  photoreceptor cell maintenance  
NDEx NetworkLCA5
Atlas of Cancer Signalling NetworkLCA5
Wikipedia pathwaysLCA5
Orthology - Evolution
OrthoDB167691
GeneTree (enSembl)ENSG00000135338
Phylogenetic Trees/Animal Genes : TreeFamLCA5
HOGENOMQ86VQ0
Homologs : HomoloGeneLCA5
Homology/Alignments : Family Browser (UCSC)LCA5
Gene fusions - Rearrangements
Fusion : QuiverLCA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLCA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LCA5
dbVarLCA5
ClinVarLCA5
1000_GenomesLCA5 
Exome Variant ServerLCA5
GNOMAD BrowserENSG00000135338
Varsome BrowserLCA5
Genetic variants : HAPMAP167691
Genomic Variants (DGV)LCA5 [DGVbeta]
DECIPHERLCA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLCA5 
Mutations
ICGC Data PortalLCA5 
TCGA Data PortalLCA5 
Broad Tumor PortalLCA5
OASIS PortalLCA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLCA5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DLCA5
Mutations and Diseases : HGMDLCA5
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch LCA5
DgiDB (Drug Gene Interaction Database)LCA5
DoCM (Curated mutations)LCA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LCA5 (select a term)
intoGenLCA5
Cancer3DLCA5(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604537    611408   
Orphanet3243    22365   
DisGeNETLCA5
MedgenLCA5
Genetic Testing Registry LCA5
NextProtQ86VQ0 [Medical]
TSGene167691
GENETestsLCA5
Target ValidationLCA5
Huge Navigator LCA5 [HugePedia]
snp3D : Map Gene to Disease167691
BioCentury BCIQLCA5
ClinGenLCA5
Clinical trials, drugs, therapy
Protein Interactions : CTD167691
Pharm GKB GenePA142671563
Clinical trialLCA5
Miscellaneous
canSAR (ICR)LCA5 (select the gene name)
HarmonizomeLCA5
DataMed IndexLCA5
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLCA5
EVEXLCA5
GoPubMedLCA5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jul 16 16:00:48 CEST 2020
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