Atlas of Genetics and Cytogenetics in Oncology and Haematology


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LCA5L (LCA5L, lebercilin like)

Identity

Alias_namesC21orf13
chromosome 21 open reading frame 13
Leber congenital amaurosis 5-like
Alias_symbol (synonym)MGC33295
Other alias
HGNC (Hugo) LCA5L
LocusID (NCBI) 150082
Atlas_Id 65187
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 39405844 and ends at 39444202 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BRWD1 (21q22.2) / LCA5L (21q22.2)PDXK (21q22.3) / LCA5L (21q22.2)BRWD1 LCA5L
PDXK LCA5L

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)LCA5L   1255
Cards
Entrez_Gene (NCBI)LCA5L  150082  LCA5L, lebercilin like
AliasesC21orf13
GeneCards (Weizmann)LCA5L
Ensembl hg19 (Hinxton)ENSG00000157578 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157578 [Gene_View]  chr21:39405844-39444202 [Contig_View]  LCA5L [Vega]
ICGC DataPortalENSG00000157578
TCGA cBioPortalLCA5L
AceView (NCBI)LCA5L
Genatlas (Paris)LCA5L
WikiGenes150082
SOURCE (Princeton)LCA5L
Genetics Home Reference (NIH)LCA5L
Genomic and cartography
GoldenPath hg38 (UCSC)LCA5L  -     chr21:39405844-39444202 -  21q22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)LCA5L  -     21q22.2   [Description]    (hg19-Feb_2009)
EnsemblLCA5L - 21q22.2 [CytoView hg19]  LCA5L - 21q22.2 [CytoView hg38]
Mapping of homologs : NCBILCA5L [Mapview hg19]  LCA5L [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK123810 BC026122 BC031059 BC043006 BX647793
RefSeq transcript (Entrez)NM_152505
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)LCA5L
Cluster EST : UnigeneHs.517284 [ NCBI ]
CGAP (NCI)Hs.517284
Alternative Splicing GalleryENSG00000157578
Gene ExpressionLCA5L [ NCBI-GEO ]   LCA5L [ EBI - ARRAY_EXPRESS ]   LCA5L [ SEEK ]   LCA5L [ MEM ]
Gene Expression Viewer (FireBrowse)LCA5L [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150082
GTEX Portal (Tissue expression)LCA5L
Protein : pattern, domain, 3D structure
UniProt/SwissProtO95447   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO95447  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO95447
Splice isoforms : SwissVarO95447
PhosPhoSitePlusO95447
Domains : Interpro (EBI)Lebercilin-like    Lebercilin_dom   
Domain families : Pfam (Sanger)Lebercilin (PF15619)   
Domain families : Pfam (NCBI)pfam15619   
Conserved Domain (NCBI)LCA5L
DMDM Disease mutations150082
Blocks (Seattle)LCA5L
SuperfamilyO95447
Human Protein AtlasENSG00000157578
Peptide AtlasO95447
HPRD10742
IPIIPI00030741   IPI00657993   IPI00657820   IPI00657907   IPI00657875   IPI00657813   IPI00657905   IPI00657869   IPI00657709   IPI00657667   
Protein Interaction databases
DIP (DOE-UCLA)O95447
IntAct (EBI)O95447
FunCoupENSG00000157578
BioGRIDLCA5L
STRING (EMBL)LCA5L
ZODIACLCA5L
Ontologies - Pathways
QuickGOO95447
Ontology : AmiGOprotein binding  
Ontology : EGO-EBIprotein binding  
NDEx NetworkLCA5L
Atlas of Cancer Signalling NetworkLCA5L
Wikipedia pathwaysLCA5L
Orthology - Evolution
OrthoDB150082
GeneTree (enSembl)ENSG00000157578
Phylogenetic Trees/Animal Genes : TreeFamLCA5L
HOVERGENO95447
HOGENOMO95447
Homologs : HomoloGeneLCA5L
Homology/Alignments : Family Browser (UCSC)LCA5L
Gene fusions - Rearrangements
Fusion: TCGABRWD1 LCA5L
Fusion: TCGAPDXK LCA5L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLCA5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LCA5L
dbVarLCA5L
ClinVarLCA5L
1000_GenomesLCA5L 
Exome Variant ServerLCA5L
ExAC (Exome Aggregation Consortium)LCA5L (select the gene name)
Genetic variants : HAPMAP150082
Genomic Variants (DGV)LCA5L [DGVbeta]
DECIPHERLCA5L [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisLCA5L 
Mutations
ICGC Data PortalLCA5L 
TCGA Data PortalLCA5L 
Broad Tumor PortalLCA5L
OASIS PortalLCA5L [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICLCA5L  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDLCA5L
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch LCA5L
DgiDB (Drug Gene Interaction Database)LCA5L
DoCM (Curated mutations)LCA5L (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)LCA5L (select a term)
intoGenLCA5L
Cancer3DLCA5L(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenLCA5L
Genetic Testing Registry LCA5L
NextProtO95447 [Medical]
TSGene150082
GENETestsLCA5L
Target ValidationLCA5L
Huge Navigator LCA5L [HugePedia]
snp3D : Map Gene to Disease150082
BioCentury BCIQLCA5L
ClinGenLCA5L
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD150082
Chemical/Pharm GKB GenePA162393809
Clinical trialLCA5L
Miscellaneous
canSAR (ICR)LCA5L (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineLCA5L
EVEXLCA5L
GoPubMedLCA5L
iHOPLCA5L
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 18 13:12:32 CEST 2017

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