Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CLN5 (ceroid-lipofuscinosis, neuronal 5)

Identity

Other aliasNCL
HGNC (Hugo) CLN5
LocusID (NCBI) 1203
Atlas_Id 54219
Location 13q22.3  [Link to chromosome band 13q22]
Location_base_pair Starts at 77566059 and ends at 77576652 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACOT13 (6p22.3) / CLN5 (13q22.3)CLN5 (13q22.3) / FBXL3 (13q22.3)

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)CLN5   2076
LRG (Locus Reference Genomic)LRG_692
Cards
Entrez_Gene (NCBI)CLN5  1203  ceroid-lipofuscinosis, neuronal 5
AliasesNCL
GeneCards (Weizmann)CLN5
Ensembl hg19 (Hinxton)ENSG00000102805 [Gene_View]  chr13:77566059-77576652 [Contig_View]  CLN5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102805 [Gene_View]  chr13:77566059-77576652 [Contig_View]  CLN5 [Vega]
ICGC DataPortalENSG00000102805
TCGA cBioPortalCLN5
AceView (NCBI)CLN5
Genatlas (Paris)CLN5
WikiGenes1203
SOURCE (Princeton)CLN5
Genetics Home Reference (NIH)CLN5
Genomic and cartography
GoldenPath hg19 (UCSC)CLN5  -     chr13:77566059-77576652 +  13q22.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CLN5  -     13q22.3   [Description]    (hg38-Dec_2013)
EnsemblCLN5 - 13q22.3 [CytoView hg19]  CLN5 - 13q22.3 [CytoView hg38]
Mapping of homologs : NCBICLN5 [Mapview hg19]  CLN5 [Mapview hg38]
OMIM256731   608102   
Gene and transcription
Genbank (Entrez)AF068227 AK075109 AK304001 BC146274 BC153154
RefSeq transcript (Entrez)NM_006493
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_009064 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)CLN5
Cluster EST : UnigeneHs.30213 [ NCBI ]
CGAP (NCI)Hs.30213
Alternative Splicing GalleryENSG00000102805
Gene ExpressionCLN5 [ NCBI-GEO ]   CLN5 [ EBI - ARRAY_EXPRESS ]   CLN5 [ SEEK ]   CLN5 [ MEM ]
Gene Expression Viewer (FireBrowse)CLN5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1203
GTEX Portal (Tissue expression)CLN5
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75503   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75503  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75503
Splice isoforms : SwissVarO75503
PhosPhoSitePlusO75503
Domains : Interpro (EBI)CLN5   
Domain families : Pfam (Sanger)CLN5 (PF15014)   
Domain families : Pfam (NCBI)pfam15014   
Conserved Domain (NCBI)CLN5
DMDM Disease mutations1203
Blocks (Seattle)CLN5
SuperfamilyO75503
Human Protein AtlasENSG00000102805
Peptide AtlasO75503
HPRD07619
IPIIPI01012178   IPI01011689   IPI00026050   
Protein Interaction databases
DIP (DOE-UCLA)O75503
IntAct (EBI)O75503
FunCoupENSG00000102805
BioGRIDCLN5
STRING (EMBL)CLN5
ZODIACCLN5
Ontologies - Pathways
QuickGOO75503
Ontology : AmiGOprotein binding  mannose binding  lysosome  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  signal peptide processing  lysosomal lumen acidification  brain development  integral component of membrane  integral component of membrane  neurogenesis  protein catabolic process  neuron maturation  perinuclear region of cytoplasm  extracellular exosome  glycosylation  
Ontology : EGO-EBIprotein binding  mannose binding  lysosome  lysosomal membrane  endoplasmic reticulum  Golgi apparatus  signal peptide processing  lysosomal lumen acidification  brain development  integral component of membrane  integral component of membrane  neurogenesis  protein catabolic process  neuron maturation  perinuclear region of cytoplasm  extracellular exosome  glycosylation  
Pathways : KEGGLysosome   
NDEx NetworkCLN5
Atlas of Cancer Signalling NetworkCLN5
Wikipedia pathwaysCLN5
Orthology - Evolution
OrthoDB1203
GeneTree (enSembl)ENSG00000102805
Phylogenetic Trees/Animal Genes : TreeFamCLN5
HOVERGENO75503
HOGENOMO75503
Homologs : HomoloGeneCLN5
Homology/Alignments : Family Browser (UCSC)CLN5
Gene fusions - Rearrangements
Fusion : MitelmanCLN5/FBXL3 [13q22.3/13q22.3]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLN5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLN5
dbVarCLN5
ClinVarCLN5
1000_GenomesCLN5 
Exome Variant ServerCLN5
ExAC (Exome Aggregation Consortium)CLN5 (select the gene name)
Genetic variants : HAPMAP1203
Genomic Variants (DGV)CLN5 [DGVbeta]
DECIPHER (Syndromes)13:77566059-77576652  ENSG00000102805
CONAN: Copy Number AnalysisCLN5 
Mutations
ICGC Data PortalCLN5 
TCGA Data PortalCLN5 
Broad Tumor PortalCLN5
OASIS PortalCLN5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLN5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLN5
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CLN5
DgiDB (Drug Gene Interaction Database)CLN5
DoCM (Curated mutations)CLN5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLN5 (select a term)
intoGenCLN5
Cancer3DCLN5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM256731    608102   
Orphanet19113   
MedgenCLN5
Genetic Testing Registry CLN5
NextProtO75503 [Medical]
TSGene1203
GENETestsCLN5
Huge Navigator CLN5 [HugePedia]
snp3D : Map Gene to Disease1203
BioCentury BCIQCLN5
ClinGenCLN5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1203
Chemical/Pharm GKB GenePA26603
Clinical trialCLN5
Miscellaneous
canSAR (ICR)CLN5 (select the gene name)
Probes
Litterature
PubMed36 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLN5
EVEXCLN5
GoPubMedCLN5
iHOPCLN5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:54 CEST 2017

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