Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CASKIN1 (CASK interacting protein 1)

Identity

Alias_symbol (synonym)KIAA1306
ANKS5A
Other alias
HGNC (Hugo) CASKIN1
LocusID (NCBI) 57524
Atlas_Id 61426
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 2177183 and ends at 2196464 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)
PLEKHH1 (14q24.1) / CASKIN1 (16p13.3)TSC2 (16p13.3) / CASKIN1 (16p13.3)

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)CASKIN1   20879
Cards
Entrez_Gene (NCBI)CASKIN1  57524  CASK interacting protein 1
AliasesANKS5A
GeneCards (Weizmann)CASKIN1
Ensembl hg19 (Hinxton)ENSG00000167971 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167971 [Gene_View]  ENSG00000167971 [Sequence]  chr16:2177183-2196464 [Contig_View]  CASKIN1 [Vega]
ICGC DataPortalENSG00000167971
TCGA cBioPortalCASKIN1
AceView (NCBI)CASKIN1
Genatlas (Paris)CASKIN1
WikiGenes57524
SOURCE (Princeton)CASKIN1
Genetics Home Reference (NIH)CASKIN1
Genomic and cartography
GoldenPath hg38 (UCSC)CASKIN1  -     chr16:2177183-2196464 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASKIN1  -     16p13.3   [Description]    (hg19-Feb_2009)
GoldenPathCASKIN1 - 16p13.3 [CytoView hg19]  CASKIN1 - 16p13.3 [CytoView hg38]
ImmunoBaseENSG00000167971
Mapping of homologs : NCBICASKIN1 [Mapview hg19]  CASKIN1 [Mapview hg38]
OMIM612184   
Gene and transcription
Genbank (Entrez)AB037727 AF451977 BC042011
RefSeq transcript (Entrez)NM_020764
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASKIN1
Cluster EST : UnigeneHs.643537 [ NCBI ]
CGAP (NCI)Hs.643537
Alternative Splicing GalleryENSG00000167971
Gene ExpressionCASKIN1 [ NCBI-GEO ]   CASKIN1 [ EBI - ARRAY_EXPRESS ]   CASKIN1 [ SEEK ]   CASKIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CASKIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57524
GTEX Portal (Tissue expression)CASKIN1
Human Protein AtlasENSG00000167971-CASKIN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WXD9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WXD9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WXD9
Splice isoforms : SwissVarQ8WXD9
PhosPhoSitePlusQ8WXD9
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    SAM_DOMAIN (PS50105)    SH3 (PS50002)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    Caskin-1    Caskin1-CID    Caskin1/2_SAM_1    Caskin1/2_SAM_2    Caskin1_SH3    Caskin_C    SAM    SAM/pointed_sf    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    Caskin-tail (PF16632)    Caskin1-CID (PF16600)    SAM_1 (PF00536)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam12796    pfam16632    pfam16600    pfam00536    pfam07653   
Domain families : Smart (EMBL)ANK (SM00248)  SAM (SM00454)  SH3 (SM00326)  
Conserved Domain (NCBI)CASKIN1
DMDM Disease mutations57524
Blocks (Seattle)CASKIN1
PDB (RSDB)3SEI    3SEN   
PDB Europe3SEI    3SEN   
PDB (PDBSum)3SEI    3SEN   
PDB (IMB)3SEI    3SEN   
Structural Biology KnowledgeBase3SEI    3SEN   
SCOP (Structural Classification of Proteins)3SEI    3SEN   
CATH (Classification of proteins structures)3SEI    3SEN   
SuperfamilyQ8WXD9
Human Protein Atlas [tissue]ENSG00000167971-CASKIN1 [tissue]
Peptide AtlasQ8WXD9
HPRD10809
IPIIPI00385480   IPI00651633   
Protein Interaction databases
DIP (DOE-UCLA)Q8WXD9
IntAct (EBI)Q8WXD9
FunCoupENSG00000167971
BioGRIDCASKIN1
STRING (EMBL)CASKIN1
ZODIACCASKIN1
Ontologies - Pathways
QuickGOQ8WXD9
Ontology : AmiGOprotein binding  cytoplasm  cytoplasm  signal transduction  membrane  identical protein binding  
Ontology : EGO-EBIprotein binding  cytoplasm  cytoplasm  signal transduction  membrane  identical protein binding  
NDEx NetworkCASKIN1
Atlas of Cancer Signalling NetworkCASKIN1
Wikipedia pathwaysCASKIN1
Orthology - Evolution
OrthoDB57524
GeneTree (enSembl)ENSG00000167971
Phylogenetic Trees/Animal Genes : TreeFamCASKIN1
HOGENOMQ8WXD9
Homologs : HomoloGeneCASKIN1
Homology/Alignments : Family Browser (UCSC)CASKIN1
Gene fusions - Rearrangements
Fusion : QuiverCASKIN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASKIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASKIN1
dbVarCASKIN1
ClinVarCASKIN1
1000_GenomesCASKIN1 
Exome Variant ServerCASKIN1
ExAC (Exome Aggregation Consortium)ENSG00000167971
GNOMAD BrowserENSG00000167971
Varsome BrowserCASKIN1
Genetic variants : HAPMAP57524
Genomic Variants (DGV)CASKIN1 [DGVbeta]
DECIPHERCASKIN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASKIN1 
Mutations
ICGC Data PortalCASKIN1 
TCGA Data PortalCASKIN1 
Broad Tumor PortalCASKIN1
OASIS PortalCASKIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASKIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCASKIN1
Mutations and Diseases : HGMDCASKIN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CASKIN1
DgiDB (Drug Gene Interaction Database)CASKIN1
DoCM (Curated mutations)CASKIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASKIN1 (select a term)
intoGenCASKIN1
Cancer3DCASKIN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612184   
Orphanet
DisGeNETCASKIN1
MedgenCASKIN1
Genetic Testing Registry CASKIN1
NextProtQ8WXD9 [Medical]
TSGene57524
GENETestsCASKIN1
Target ValidationCASKIN1
Huge Navigator CASKIN1 [HugePedia]
snp3D : Map Gene to Disease57524
BioCentury BCIQCASKIN1
ClinGenCASKIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57524
Chemical/Pharm GKB GenePA134878267
Clinical trialCASKIN1
Miscellaneous
canSAR (ICR)CASKIN1 (select the gene name)
DataMed IndexCASKIN1
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASKIN1
EVEXCASKIN1
GoPubMedCASKIN1
iHOPCASKIN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Sep 3 15:22:44 CEST 2019
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