Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CABIN1 (calcineurin binding protein 1)

Identity

Alias_symbol (synonym)KIAA0330
PPP3IN
Other aliasCAIN
KB-318B8.7
HGNC (Hugo) CABIN1
LocusID (NCBI) 23523
Atlas_Id 52975
Location 22q11.23  [Link to chromosome band 22q11]
Location_base_pair Starts at 24407820 and ends at 24574596 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
C2orf61 (2p21) / CABIN1 (22q11.23)CABIN1 (22q11.23) / CABIN1 (22q11.23)CABIN1 (22q11.23) / DEK (6p22.3)
CABIN1 (22q11.23) / GRIN2A (16p13.2)CABIN1 (22q11.23) / LAMB1 (7q31.1)CABIN1 (22q11.23) / SMARCB1 (22q11.23)
CABIN1 (22q11.23) / TRAPPC10 (21q22.3)CABIN1 (22q11.23) / VSTM2A (7p11.2)CACNA1C (12p13.33) / CABIN1 (22q11.23)
DDTL (22q11.23) / CABIN1 (22q11.23)DEK (6p22.3) / CABIN1 (22q11.23)HIRA (22q11.21) / CABIN1 (22q11.23)
CABIN1 22q11.23 / GRIN2A 16p13.2CABIN1 22q11.23 / SMARCB1 22q11.23HIRA 22q11.21 / CABIN1 22q11.23

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)CABIN1   24187
Cards
Entrez_Gene (NCBI)CABIN1  23523  calcineurin binding protein 1
AliasesCAIN; KB-318B8.7; PPP3IN
GeneCards (Weizmann)CABIN1
Ensembl hg19 (Hinxton)ENSG00000099991 [Gene_View]  chr22:24407820-24574596 [Contig_View]  CABIN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000099991 [Gene_View]  chr22:24407820-24574596 [Contig_View]  CABIN1 [Vega]
ICGC DataPortalENSG00000099991
TCGA cBioPortalCABIN1
AceView (NCBI)CABIN1
Genatlas (Paris)CABIN1
WikiGenes23523
SOURCE (Princeton)CABIN1
Genetics Home Reference (NIH)CABIN1
Genomic and cartography
GoldenPath hg19 (UCSC)CABIN1  -     chr22:24407820-24574596 +  22q11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CABIN1  -     22q11.23   [Description]    (hg38-Dec_2013)
EnsemblCABIN1 - 22q11.23 [CytoView hg19]  CABIN1 - 22q11.23 [CytoView hg38]
Mapping of homologs : NCBICABIN1 [Mapview hg19]  CABIN1 [Mapview hg38]
OMIM604251   
Gene and transcription
Genbank (Entrez)AB002328 AF072441 AK127950 AK307522 AL390166
RefSeq transcript (Entrez)NM_001199281 NM_001201429 NM_012295
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_011520 NT_187633 NW_004929430
Consensus coding sequences : CCDS (NCBI)CABIN1
Cluster EST : UnigeneHs.517478 [ NCBI ]
CGAP (NCI)Hs.517478
Alternative Splicing GalleryENSG00000099991
Gene ExpressionCABIN1 [ NCBI-GEO ]   CABIN1 [ EBI - ARRAY_EXPRESS ]   CABIN1 [ SEEK ]   CABIN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CABIN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23523
GTEX Portal (Tissue expression)CABIN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y6J0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y6J0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y6J0
Splice isoforms : SwissVarQ9Y6J0
PhosPhoSitePlusQ9Y6J0
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)Hir3/CABIN1    MEF2_binding    TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)MEF2_binding (PF09047)    TPR_8 (PF13181)   
Domain families : Pfam (NCBI)pfam09047    pfam13181   
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)CABIN1
DMDM Disease mutations23523
Blocks (Seattle)CABIN1
PDB (SRS)1N6J   
PDB (PDBSum)1N6J   
PDB (IMB)1N6J   
PDB (RSDB)1N6J   
Structural Biology KnowledgeBase1N6J   
SCOP (Structural Classification of Proteins)1N6J   
CATH (Classification of proteins structures)1N6J   
SuperfamilyQ9Y6J0
Human Protein AtlasENSG00000099991
Peptide AtlasQ9Y6J0
HPRD10369
IPIIPI00002355   IPI01009794   IPI00878349   IPI00878501   IPI00184409   IPI00878856   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y6J0
IntAct (EBI)Q9Y6J0
FunCoupENSG00000099991
BioGRIDCABIN1
STRING (EMBL)CABIN1
ZODIACCABIN1
Ontologies - Pathways
QuickGOQ9Y6J0
Ontology : AmiGOprotein phosphatase inhibitor activity  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA replication-independent nucleosome assembly  cell surface receptor signaling pathway  response to activity  aggresome  chromatin modification  protein domain specific binding  protein phosphatase 2B binding  nucleosome binding  negative regulation of catalytic activity  negative regulation of cell death  
Ontology : EGO-EBIprotein phosphatase inhibitor activity  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA replication-independent nucleosome assembly  cell surface receptor signaling pathway  response to activity  aggresome  chromatin modification  protein domain specific binding  protein phosphatase 2B binding  nucleosome binding  negative regulation of catalytic activity  negative regulation of cell death  
Pathways : BIOCARTAControl of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) [Genes]    Role of MEF2D in T-cell Apoptosis [Genes]   
NDEx NetworkCABIN1
Atlas of Cancer Signalling NetworkCABIN1
Wikipedia pathwaysCABIN1
Orthology - Evolution
OrthoDB23523
GeneTree (enSembl)ENSG00000099991
Phylogenetic Trees/Animal Genes : TreeFamCABIN1
HOVERGENQ9Y6J0
HOGENOMQ9Y6J0
Homologs : HomoloGeneCABIN1
Homology/Alignments : Family Browser (UCSC)CABIN1
Gene fusions - Rearrangements
Fusion : MitelmanCABIN1/GRIN2A [22q11.23/16p13.2]  
Fusion : MitelmanCABIN1/SMARCB1 [22q11.23/22q11.23]  [t(22;22)(q11;q11)]  
Fusion : MitelmanHIRA/CABIN1 [22q11.21/22q11.23]  [t(22;22)(q11;q11)]  
Fusion: TCGACABIN1 22q11.23 GRIN2A 16p13.2 BLCA
Fusion: TCGACABIN1 22q11.23 SMARCB1 22q11.23 OV
Fusion: TCGAHIRA 22q11.21 CABIN1 22q11.23 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCABIN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CABIN1
dbVarCABIN1
ClinVarCABIN1
1000_GenomesCABIN1 
Exome Variant ServerCABIN1
ExAC (Exome Aggregation Consortium)CABIN1 (select the gene name)
Genetic variants : HAPMAP23523
Genomic Variants (DGV)CABIN1 [DGVbeta]
DECIPHER (Syndromes)22:24407820-24574596  ENSG00000099991
CONAN: Copy Number AnalysisCABIN1 
Mutations
ICGC Data PortalCABIN1 
TCGA Data PortalCABIN1 
Broad Tumor PortalCABIN1
OASIS PortalCABIN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCABIN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCABIN1
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
BioMutasearch CABIN1
DgiDB (Drug Gene Interaction Database)CABIN1
DoCM (Curated mutations)CABIN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CABIN1 (select a term)
intoGenCABIN1
Cancer3DCABIN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604251   
Orphanet
MedgenCABIN1
Genetic Testing Registry CABIN1
NextProtQ9Y6J0 [Medical]
TSGene23523
GENETestsCABIN1
Huge Navigator CABIN1 [HugePedia]
snp3D : Map Gene to Disease23523
BioCentury BCIQCABIN1
ClinGenCABIN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23523
Chemical/Pharm GKB GenePA164717549
Clinical trialCABIN1
Miscellaneous
canSAR (ICR)CABIN1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCABIN1
EVEXCABIN1
GoPubMedCABIN1
iHOPCABIN1
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 Mar 14 12:58:25 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.