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CDKAL1 (CDK5 regulatory subunit associated protein 1 like 1)

Identity

Alias_namesCDK5 regulatory subunit associated protein 1-like 1
Alias_symbol (synonym)FLJ20342
Other alias-
HGNC (Hugo) CDKAL1
LocusID (NCBI) 54901
Atlas_Id 54207
Location 6p22.3  [Link to chromosome band 6p22]
Location_base_pair Starts at 20534457 and ends at 21232403 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)
CDKAL1 (6p22.3) / C6orf89 (6p21.2)CDKAL1 (6p22.3) / CNNM4 (2q11.2)CDKAL1 (6p22.3) / HSP90AA1 (14q32.31)
CDKAL1 (6p22.3) / MOB3B (9p21.2)CDKAL1 (6p22.3) / MX2 (21q22.3)CDKAL1 (6p22.3) / NAB1 (2q32.2)
CDKAL1 (6p22.3) / PPP2R5C (14q32.31)CDKAL1 (6p22.3) / RBM24 (6p22.3)CDKAL1 (6p22.3) / RCAN2 (6p21.1)
CDKAL1 (6p22.3) / TBC1D1 (4p14)CDYL (6p25.1) / CDKAL1 (6p22.3)DPY19L1 (7p14.3) / CDKAL1 (6p22.3)
E2F3 (6p22.3) / CDKAL1 (6p22.3)GRIK2 (6q16.3) / CDKAL1 (6p22.3)HERC4 (10q21.3) / CDKAL1 (6p22.3)
RANBP9 (6p23) / CDKAL1 (6p22.3)SLC22A23 (6p25.2) / CDKAL1 (6p22.3)CDKAL1 6p22.3 / C6orf89 6p21.2
CDKAL1 6p22.3 / HSP90AA1 14q32.31CDKAL1 6p22.3 / RCAN2 6p21.1CDKAL1 6p22.3 / TBC1D1 4p14
DPY19L1 7p14.3 / CDKAL1 6p22.3GRIK2 6q16.3 / CDKAL1 6p22.3HERC4 10q21.3 / CDKAL1 6p22.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 10 ]
  t(4;6)(p14;p22) CDKAL1/TBC1D1
t(6;6)(p12;p22) CDKAL1/RCAN2
t(6;6)(p21;p22) CDKAL1/C6orf89
CDKAL1/RBM24 (6p22)
E2F3/CDKAL1 (6p22)
t(6;6)(p22;p23) RANBP9/CDKAL1
t(6;6)(p22;q16) GRIK2/CDKAL1
t(6;7)(p22;p14) DPY19L1/CDKAL1
t(6;10)(p22;q21) HERC4/CDKAL1
t(6;14)(p22;q32) CDKAL1/HSP90AA1


External links

Nomenclature
HGNC (Hugo)CDKAL1   21050
Cards
Entrez_Gene (NCBI)CDKAL1  54901  CDK5 regulatory subunit associated protein 1 like 1
Aliases
GeneCards (Weizmann)CDKAL1
Ensembl hg19 (Hinxton)ENSG00000145996 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145996 [Gene_View]  ENSG00000145996 [Sequence]  chr6:20534457-21232403 [Contig_View]  CDKAL1 [Vega]
ICGC DataPortalENSG00000145996
TCGA cBioPortalCDKAL1
AceView (NCBI)CDKAL1
Genatlas (Paris)CDKAL1
WikiGenes54901
SOURCE (Princeton)CDKAL1
Genetics Home Reference (NIH)CDKAL1
Genomic and cartography
GoldenPath hg38 (UCSC)CDKAL1  -     chr6:20534457-21232403 +  6p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CDKAL1  -     6p22.3   [Description]    (hg19-Feb_2009)
EnsemblCDKAL1 - 6p22.3 [CytoView hg19]  CDKAL1 - 6p22.3 [CytoView hg38]
Mapping of homologs : NCBICDKAL1 [Mapview hg19]  CDKAL1 [Mapview hg38]
OMIM611259   
Gene and transcription
Genbank (Entrez)AK000349 AK024151 AK074342 AK128546 AK291735
RefSeq transcript (Entrez)NM_017774
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CDKAL1
Cluster EST : UnigeneHs.672504 [ NCBI ]
CGAP (NCI)Hs.672504
Alternative Splicing GalleryENSG00000145996
Gene ExpressionCDKAL1 [ NCBI-GEO ]   CDKAL1 [ EBI - ARRAY_EXPRESS ]   CDKAL1 [ SEEK ]   CDKAL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CDKAL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)54901
GTEX Portal (Tissue expression)CDKAL1
Human Protein AtlasENSG00000145996-CDKAL1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VV42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VV42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VV42
Splice isoforms : SwissVarQ5VV42
PhosPhoSitePlusQ5VV42
Domaine pattern : Prosite (Expaxy)MTTASE_N (PS51449)    MTTASE_RADICAL (PS01278)    TRAM (PS50926)   
Domains : Interpro (EBI)Elp3/MiaB/NifB    Methylthiotransferase    Methylthiotransferase_CS    Methylthiotransferase_N    Methylthiotransferase_N_sf    MiaB-like_B    rSAM    rSAM_horseshoe    TRAM_dom   
Domain families : Pfam (Sanger)Radical_SAM (PF04055)    TRAM (PF01938)    UPF0004 (PF00919)   
Domain families : Pfam (NCBI)pfam04055    pfam01938    pfam00919   
Domain families : Smart (EMBL)Elp3 (SM00729)  
Conserved Domain (NCBI)CDKAL1
DMDM Disease mutations54901
Blocks (Seattle)CDKAL1
SuperfamilyQ5VV42
Human Protein Atlas [tissue]ENSG00000145996-CDKAL1 [tissue]
Peptide AtlasQ5VV42
HPRD13022
IPIIPI00015713   IPI00443485   IPI00855838   
Protein Interaction databases
DIP (DOE-UCLA)Q5VV42
IntAct (EBI)Q5VV42
FunCoupENSG00000145996
BioGRIDCDKAL1
STRING (EMBL)CDKAL1
ZODIACCDKAL1
Ontologies - Pathways
QuickGOQ5VV42
Ontology : AmiGOmolecular_function  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  tRNA modification  biological_process  membrane  integral component of membrane  N6-threonylcarbomyladenosine methylthiotransferase activity  N6-threonylcarbomyladenosine methylthiotransferase activity  tRNA methylthiolation  metal ion binding  4 iron, 4 sulfur cluster binding  tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase  maintenance of translational fidelity  
Ontology : EGO-EBImolecular_function  protein binding  endoplasmic reticulum  endoplasmic reticulum membrane  rough endoplasmic reticulum  tRNA modification  biological_process  membrane  integral component of membrane  N6-threonylcarbomyladenosine methylthiotransferase activity  N6-threonylcarbomyladenosine methylthiotransferase activity  tRNA methylthiolation  metal ion binding  4 iron, 4 sulfur cluster binding  tRNA (N(6)-L-threonylcarbamoyladenosine(37)-C(2))-methylthiotransferase  maintenance of translational fidelity  
NDEx NetworkCDKAL1
Atlas of Cancer Signalling NetworkCDKAL1
Wikipedia pathwaysCDKAL1
Orthology - Evolution
OrthoDB54901
GeneTree (enSembl)ENSG00000145996
Phylogenetic Trees/Animal Genes : TreeFamCDKAL1
HOVERGENQ5VV42
HOGENOMQ5VV42
Homologs : HomoloGeneCDKAL1
Homology/Alignments : Family Browser (UCSC)CDKAL1
Gene fusions - Rearrangements
Fusion : MitelmanCDKAL1/C6orf89 [6p22.3/6p21.2]  
Fusion : MitelmanCDKAL1/HSP90AA1 [6p22.3/14q32.31]  [t(6;14)(p22;q32)]  
Fusion : MitelmanCDKAL1/RBM24 [6p22.3/6p22.3]  [t(6;6)(p22;p22)]  
Fusion : MitelmanCDKAL1/RCAN2 [6p22.3/6p21.1]  [t(6;6)(p12;p22)]  
Fusion : MitelmanCDKAL1/TBC1D1 [6p22.3/4p14]  [t(4;6)(p14;p22)]  
Fusion : MitelmanDPY19L1/CDKAL1 [7p14.3/6p22.3]  [t(6;7)(p22;p14)]  
Fusion : MitelmanE2F3/CDKAL1 [6p22.3/6p22.3]  [t(6;6)(p22;p22)]  
Fusion : MitelmanGRIK2/CDKAL1 [6q16.3/6p22.3]  [t(6;6)(p22;q16)]  
Fusion : MitelmanHERC4/CDKAL1 [10q21.3/6p22.3]  [t(6;10)(p22;q21)]  
Fusion : MitelmanRANBP9/CDKAL1 [6p23/6p22.3]  [t(6;6)(p22;p23)]  
Fusion PortalCDKAL1 6p22.3 C6orf89 6p21.2 LUAD
Fusion PortalCDKAL1 6p22.3 HSP90AA1 14q32.31 BRCA
Fusion PortalCDKAL1 6p22.3 RCAN2 6p21.1 BLCA
Fusion PortalCDKAL1 6p22.3 TBC1D1 4p14 BLCA
Fusion PortalDPY19L1 7p14.3 CDKAL1 6p22.3 LUSC
Fusion PortalGRIK2 6q16.3 CDKAL1 6p22.3 BRCA
Fusion PortalHERC4 10q21.3 CDKAL1 6p22.3 BLCA
Fusion : QuiverCDKAL1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCDKAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CDKAL1
dbVarCDKAL1
ClinVarCDKAL1
1000_GenomesCDKAL1 
Exome Variant ServerCDKAL1
ExAC (Exome Aggregation Consortium)ENSG00000145996
GNOMAD BrowserENSG00000145996
Varsome BrowserCDKAL1
Genetic variants : HAPMAP54901
Genomic Variants (DGV)CDKAL1 [DGVbeta]
DECIPHERCDKAL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCDKAL1 
Mutations
ICGC Data PortalCDKAL1 
TCGA Data PortalCDKAL1 
Broad Tumor PortalCDKAL1
OASIS PortalCDKAL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCDKAL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCDKAL1
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 CDKAL1
DgiDB (Drug Gene Interaction Database)CDKAL1
DoCM (Curated mutations)CDKAL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CDKAL1 (select a term)
intoGenCDKAL1
Cancer3DCDKAL1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611259   
Orphanet
DisGeNETCDKAL1
MedgenCDKAL1
Genetic Testing Registry CDKAL1
NextProtQ5VV42 [Medical]
TSGene54901
GENETestsCDKAL1
Target ValidationCDKAL1
Huge Navigator CDKAL1 [HugePedia]
snp3D : Map Gene to Disease54901
BioCentury BCIQCDKAL1
ClinGenCDKAL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD54901
Chemical/Pharm GKB GenePA134871999
Clinical trialCDKAL1
Miscellaneous
canSAR (ICR)CDKAL1 (select the gene name)
Probes
Litterature
PubMed184 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCDKAL1
EVEXCDKAL1
GoPubMedCDKAL1
iHOPCDKAL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 10:57:22 CET 2018

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