Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CLN8 (CLN8, transmembrane ER and ERGIC protein)

Identity

Alias_namesEPMR
C8orf61
chromosome 8 open reading frame 61
epilepsy, progressive with mental retardation
Alias_symbol (synonym)FLJ39417
Other alias
HGNC (Hugo) CLN8
LocusID (NCBI) 2055
Atlas_Id 56339
Location 8p23.3  [Link to chromosome band 8p23]
Location_base_pair Starts at 1763704 and ends at 1786570 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CLN8 (8p23.3) / NMT1 (17q21.31)TMEM59 (1p32.3) / CLN8 (8p23.3)

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)CLN8   2079
LRG (Locus Reference Genomic)LRG_691
Cards
Entrez_Gene (NCBI)CLN8  2055  CLN8, transmembrane ER and ERGIC protein
AliasesC8orf61; EPMR
GeneCards (Weizmann)CLN8
Ensembl hg19 (Hinxton)ENSG00000182372 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182372 [Gene_View]  chr8:1763704-1786570 [Contig_View]  CLN8 [Vega]
ICGC DataPortalENSG00000182372
TCGA cBioPortalCLN8
AceView (NCBI)CLN8
Genatlas (Paris)CLN8
WikiGenes2055
SOURCE (Princeton)CLN8
Genetics Home Reference (NIH)CLN8
Genomic and cartography
GoldenPath hg38 (UCSC)CLN8  -     chr8:1763704-1786570 +  8p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLN8  -     8p23.3   [Description]    (hg19-Feb_2009)
EnsemblCLN8 - 8p23.3 [CytoView hg19]  CLN8 - 8p23.3 [CytoView hg38]
Mapping of homologs : NCBICLN8 [Mapview hg19]  CLN8 [Mapview hg38]
OMIM600143   607837   610003   
Gene and transcription
Genbank (Entrez)AF123757 AF123758 AF123759 AF123760 AF123761
RefSeq transcript (Entrez)NM_001034061 NM_018941
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_008656 NT_187680
Consensus coding sequences : CCDS (NCBI)CLN8
Cluster EST : UnigeneHs.127675 [ NCBI ]
CGAP (NCI)Hs.127675
Alternative Splicing GalleryENSG00000182372
Gene ExpressionCLN8 [ NCBI-GEO ]   CLN8 [ EBI - ARRAY_EXPRESS ]   CLN8 [ SEEK ]   CLN8 [ MEM ]
Gene Expression Viewer (FireBrowse)CLN8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2055
GTEX Portal (Tissue expression)CLN8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UBY8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UBY8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UBY8
Splice isoforms : SwissVarQ9UBY8
PhosPhoSitePlusQ9UBY8
Domaine pattern : Prosite (Expaxy)TLC (PS50922)   
Domains : Interpro (EBI)TLC-dom   
Domain families : Pfam (Sanger)TRAM_LAG1_CLN8 (PF03798)   
Domain families : Pfam (NCBI)pfam03798   
Domain families : Smart (EMBL)TLC (SM00724)  
Conserved Domain (NCBI)CLN8
DMDM Disease mutations2055
Blocks (Seattle)CLN8
SuperfamilyQ9UBY8
Human Protein AtlasENSG00000182372
Peptide AtlasQ9UBY8
HPRD06383
IPIIPI00003926   
Protein Interaction databases
DIP (DOE-UCLA)Q9UBY8
IntAct (EBI)Q9UBY8
FunCoupENSG00000182372
BioGRIDCLN8
STRING (EMBL)CLN8
ZODIACCLN8
Ontologies - Pathways
QuickGOQ9UBY8
Ontology : AmiGOage-dependent response to oxidative stress  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  phospholipid metabolic process  ceramide metabolic process  lipid transport  mitochondrial membrane organization  lysosome organization  nervous system development  visual perception  adult walking behavior  cholesterol metabolic process  associative learning  regulation of cell size  lipid biosynthetic process  integral component of membrane  somatic motor neuron differentiation  protein catabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  social behavior  negative regulation of apoptotic process  cellular protein catabolic process  photoreceptor cell maintenance  negative regulation of proteolysis  ceramide biosynthetic process  musculoskeletal movement  neuromuscular process controlling posture  neuromuscular process controlling balance  glutamate reuptake  retina development in camera-type eye  neurofilament cytoskeleton organization  presynapse  
Ontology : EGO-EBIage-dependent response to oxidative stress  mitochondrion  endoplasmic reticulum  endoplasmic reticulum membrane  endoplasmic reticulum-Golgi intermediate compartment  phospholipid metabolic process  ceramide metabolic process  lipid transport  mitochondrial membrane organization  lysosome organization  nervous system development  visual perception  adult walking behavior  cholesterol metabolic process  associative learning  regulation of cell size  lipid biosynthetic process  integral component of membrane  somatic motor neuron differentiation  protein catabolic process  endoplasmic reticulum-Golgi intermediate compartment membrane  social behavior  negative regulation of apoptotic process  cellular protein catabolic process  photoreceptor cell maintenance  negative regulation of proteolysis  ceramide biosynthetic process  musculoskeletal movement  neuromuscular process controlling posture  neuromuscular process controlling balance  glutamate reuptake  retina development in camera-type eye  neurofilament cytoskeleton organization  presynapse  
NDEx NetworkCLN8
Atlas of Cancer Signalling NetworkCLN8
Wikipedia pathwaysCLN8
Orthology - Evolution
OrthoDB2055
GeneTree (enSembl)ENSG00000182372
Phylogenetic Trees/Animal Genes : TreeFamCLN8
HOVERGENQ9UBY8
HOGENOMQ9UBY8
Homologs : HomoloGeneCLN8
Homology/Alignments : Family Browser (UCSC)CLN8
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLN8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLN8
dbVarCLN8
ClinVarCLN8
1000_GenomesCLN8 
Exome Variant ServerCLN8
ExAC (Exome Aggregation Consortium)CLN8 (select the gene name)
Genetic variants : HAPMAP2055
Genomic Variants (DGV)CLN8 [DGVbeta]
DECIPHERCLN8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLN8 
Mutations
ICGC Data PortalCLN8 
TCGA Data PortalCLN8 
Broad Tumor PortalCLN8
OASIS PortalCLN8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLN8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLN8
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 CLN8
DgiDB (Drug Gene Interaction Database)CLN8
DoCM (Curated mutations)CLN8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLN8 (select a term)
intoGenCLN8
Cancer3DCLN8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600143    607837    610003   
Orphanet353    19111   
MedgenCLN8
Genetic Testing Registry CLN8
NextProtQ9UBY8 [Medical]
TSGene2055
GENETestsCLN8
Target ValidationCLN8
Huge Navigator CLN8 [HugePedia]
snp3D : Map Gene to Disease2055
BioCentury BCIQCLN8
ClinGenCLN8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2055
Chemical/Pharm GKB GenePA26606
Clinical trialCLN8
Miscellaneous
canSAR (ICR)CLN8 (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLN8
EVEXCLN8
GoPubMedCLN8
iHOPCLN8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 1 16:58:07 CEST 2017

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