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CERKL (ceramide kinase like)

Identity

Alias_namesRP26
retinitis pigmentosa 26 (autosomal recessive)
ceramide kinase-like
Other alias
HGNC (Hugo) CERKL
LocusID (NCBI) 375298
Atlas_Id 61738
Location 2q31.3  [Link to chromosome band 2q31]
Location_base_pair Starts at 181536674 and ends at 181657107 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)
ADAM23 (2q33.3) / CERKL (2q31.3)CERKL (2q31.3) / FOXJ3 (1p34.2)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(2;2)(q31;q33) ADAM23/CERKL

External links

Nomenclature
HGNC (Hugo)CERKL   21699
Cards
Entrez_Gene (NCBI)CERKL  375298  ceramide kinase like
AliasesRP26
GeneCards (Weizmann)CERKL
Ensembl hg19 (Hinxton)ENSG00000188452 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188452 [Gene_View]  chr2:181536674-181657107 [Contig_View]  CERKL [Vega]
ICGC DataPortalENSG00000188452
TCGA cBioPortalCERKL
AceView (NCBI)CERKL
Genatlas (Paris)CERKL
WikiGenes375298
SOURCE (Princeton)CERKL
Genetics Home Reference (NIH)CERKL
Genomic and cartography
GoldenPath hg38 (UCSC)CERKL  -     chr2:181536674-181657107 -  2q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CERKL  -     2q31.3   [Description]    (hg19-Feb_2009)
EnsemblCERKL - 2q31.3 [CytoView hg19]  CERKL - 2q31.3 [CytoView hg38]
Mapping of homologs : NCBICERKL [Mapview hg19]  CERKL [Mapview hg38]
OMIM608380   608381   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001030311 NM_001030312 NM_001030313 NM_001160277 NM_201548
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CERKL
Cluster EST : UnigeneHs.732358 [ NCBI ]
CGAP (NCI)Hs.732358
Alternative Splicing GalleryENSG00000188452
Gene ExpressionCERKL [ NCBI-GEO ]   CERKL [ EBI - ARRAY_EXPRESS ]   CERKL [ SEEK ]   CERKL [ MEM ]
Gene Expression Viewer (FireBrowse)CERKL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)375298
GTEX Portal (Tissue expression)CERKL
Human Protein AtlasENSG00000188452-CERKL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ49MI3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ49MI3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ49MI3
Splice isoforms : SwissVarQ49MI3
PhosPhoSitePlusQ49MI3
Domaine pattern : Prosite (Expaxy)DAGK (PS50146)   
Domains : Interpro (EBI)Diacylglycerol_kinase_cat_dom    NAD/diacylglycerol_kinase   
Domain families : Pfam (Sanger)DAGK_cat (PF00781)   
Domain families : Pfam (NCBI)pfam00781   
Conserved Domain (NCBI)CERKL
DMDM Disease mutations375298
Blocks (Seattle)CERKL
SuperfamilyQ49MI3
Human Protein Atlas [tissue]ENSG00000188452-CERKL [tissue]
Peptide AtlasQ49MI3
HPRD09757
IPIIPI00641004   IPI00411425   IPI00646312   IPI00642444   IPI00554572   IPI00554629   IPI00647725   IPI00658212   
Protein Interaction databases
DIP (DOE-UCLA)Q49MI3
IntAct (EBI)Q49MI3
FunCoupENSG00000188452
BioGRIDCERKL
STRING (EMBL)CERKL
ZODIACCERKL
Ontologies - Pathways
QuickGOQ49MI3
Ontology : AmiGOphotoreceptor outer segment  photoreceptor inner segment  NAD+ kinase activity  nucleus  nucleolus  endoplasmic reticulum  Golgi apparatus  cytosol  phosphorylation  sphingolipid biosynthetic process  sphingolipid binding  perinuclear region of cytoplasm  
Ontology : EGO-EBIphotoreceptor outer segment  photoreceptor inner segment  NAD+ kinase activity  nucleus  nucleolus  endoplasmic reticulum  Golgi apparatus  cytosol  phosphorylation  sphingolipid biosynthetic process  sphingolipid binding  perinuclear region of cytoplasm  
NDEx NetworkCERKL
Atlas of Cancer Signalling NetworkCERKL
Wikipedia pathwaysCERKL
Orthology - Evolution
OrthoDB375298
GeneTree (enSembl)ENSG00000188452
Phylogenetic Trees/Animal Genes : TreeFamCERKL
HOVERGENQ49MI3
HOGENOMQ49MI3
Homologs : HomoloGeneCERKL
Homology/Alignments : Family Browser (UCSC)CERKL
Gene fusions - Rearrangements
Fusion : QuiverCERKL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCERKL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CERKL
dbVarCERKL
ClinVarCERKL
1000_GenomesCERKL 
Exome Variant ServerCERKL
ExAC (Exome Aggregation Consortium)ENSG00000188452
GNOMAD BrowserENSG00000188452
Genetic variants : HAPMAP375298
Genomic Variants (DGV)CERKL [DGVbeta]
DECIPHERCERKL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCERKL 
Mutations
ICGC Data PortalCERKL 
TCGA Data PortalCERKL 
Broad Tumor PortalCERKL
OASIS PortalCERKL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCERKL  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCERKL
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
BioMutasearch CERKL
DgiDB (Drug Gene Interaction Database)CERKL
DoCM (Curated mutations)CERKL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CERKL (select a term)
intoGenCERKL
Cancer3DCERKL(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608380    608381   
Orphanet659   
DisGeNETCERKL
MedgenCERKL
Genetic Testing Registry CERKL
NextProtQ49MI3 [Medical]
TSGene375298
GENETestsCERKL
Target ValidationCERKL
Huge Navigator CERKL [HugePedia]
snp3D : Map Gene to Disease375298
BioCentury BCIQCERKL
ClinGenCERKL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD375298
Chemical/Pharm GKB GenePA134984780
Clinical trialCERKL
Miscellaneous
canSAR (ICR)CERKL (select the gene name)
Probes
Litterature
PubMed1 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCERKL
EVEXCERKL
GoPubMedCERKL
iHOPCERKL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Feb 23 18:14:34 CET 2018
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