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LCA5L (lebercilin LCA5 like)

Identity

Alias (NCBI)C21orf13
HGNC (Hugo) LCA5L
HGNC Alias symbMGC33295
HGNC Previous nameC21orf13
HGNC Previous namechromosome 21 open reading frame 13
 Leber congenital amaurosis 5-like
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 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    lebercilin LCA5 like
AliasesC21orf13
GeneCards (Weizmann)LCA5L
Ensembl hg19 (Hinxton)ENSG00000157578 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000157578 [Gene_View]  ENSG00000157578 [Sequence]  chr21:39405844-39444202 [Contig_View]  LCA5L [Vega]
ICGC DataPortalENSG00000157578
TCGA cBioPortalLCA5L
AceView (NCBI)LCA5L
Genatlas (Paris)LCA5L
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)
GoldenPathLCA5L - 21q22.2 [CytoView hg19]  LCA5L - 21q22.2 [CytoView hg38]
ImmunoBaseENSG00000157578
Genome Data Viewer NCBILCA5L [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AK123810 BC026122 BC031059 BC043006 BX647793
RefSeq transcript (Entrez)NM_001384285 NM_001384286 NM_001384287 NM_001384288 NM_001384289 NM_001384291 NM_001384292 NM_001384293 NM_001384294 NM_001384295 NM_001384296 NM_001384297 NM_001384298 NM_001384299 NM_001384300 NM_001384301 NM_001384302 NM_001384303 NM_001384304 NM_001384305 NM_001384306 NM_001384307 NM_001384308 NM_001384309 NM_001384310 NM_001384311 NM_001384312 NM_001384313 NM_152505
Consensus coding sequences : CCDS (NCBI)LCA5L
Gene ExpressionLCA5L [ NCBI-GEO ]   LCA5L [ EBI - ARRAY_EXPRESS ]   LCA5L [ SEEK ]   LCA5L [ MEM ]
Gene Expression Viewer (FireBrowse)LCA5L [ Firebrowse - Broad ]
GenevisibleExpression of LCA5L in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)150082
GTEX Portal (Tissue expression)LCA5L
Human Protein AtlasENSG00000157578-LCA5L [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusO95447
Domains : Interpro (EBI)Lebercilin-like    Lebercilin_dom   
Domain families : Pfam (Sanger)Lebercilin (PF15619)   
Domain families : Pfam (NCBI)pfam15619   
Conserved Domain (NCBI)LCA5L
SuperfamilyO95447
AlphaFold pdb e-kbO95447   
Human Protein Atlas [tissue]ENSG00000157578-LCA5L [tissue]
HPRD10742
Protein Interaction databases
DIP (DOE-UCLA)O95447
IntAct (EBI)O95447
BioGRIDLCA5L
STRING (EMBL)LCA5L
ZODIACLCA5L
Ontologies - Pathways
QuickGOO95447
Ontology : AmiGOprotein binding  axoneme  intraciliary transport  
Ontology : EGO-EBIprotein binding  axoneme  intraciliary transport  
NDEx NetworkLCA5L
Atlas of Cancer Signalling NetworkLCA5L
Wikipedia pathwaysLCA5L
Orthology - Evolution
OrthoDB150082
GeneTree (enSembl)ENSG00000157578
Phylogenetic Trees/Animal Genes : TreeFamLCA5L
Homologs : HomoloGeneLCA5L
Homology/Alignments : Family Browser (UCSC)LCA5L
Gene fusions - Rearrangements
Fusion : QuiverLCA5L
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerLCA5L [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)LCA5L
dbVarLCA5L
ClinVarLCA5L
MonarchLCA5L
1000_GenomesLCA5L 
Exome Variant ServerLCA5L
GNOMAD BrowserENSG00000157578
Varsome BrowserLCA5L
ACMGLCA5L variants
VarityO95447
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]  
Somatic Mutations in Cancer : COSMIC3DLCA5L
Mutations and Diseases : HGMDLCA5L
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaLCA5L
DgiDB (Drug Gene Interaction Database)LCA5L
DoCM (Curated mutations)LCA5L
CIViC (Clinical Interpretations of Variants in Cancer)LCA5L
Cancer3DLCA5L
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETLCA5L
MedgenLCA5L
Genetic Testing Registry LCA5L
NextProtO95447 [Medical]
GENETestsLCA5L
Target ValidationLCA5L
Huge Navigator LCA5L [HugePedia]
ClinGenLCA5L
Clinical trials, drugs, therapy
MyCancerGenomeLCA5L
Protein Interactions : CTDLCA5L
Pharm GKB GenePA162393809
PharosO95447
Clinical trialLCA5L
Miscellaneous
canSAR (ICR)LCA5L
HarmonizomeLCA5L
DataMed IndexLCA5L
Probes
Litterature
PubMed17 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXLCA5L
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:55:26 CEST 2021

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