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CSMD1 (CUB and Sushi multiple domains 1)

Identity

Alias_namesregulatory subunit 24
Alias_symbol (synonym)KIAA1890
PPP1R24
Other alias
HGNC (Hugo) CSMD1
LocusID (NCBI) 64478
Atlas_Id 40167
Location 8p23.2  [Link to chromosome band 8p23]
Location_base_pair Starts at 2792875 and ends at 4852328 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CSMD1 (8p23.2) / C15orf41 (15q14)CSMD1 (8p23.2) / UBQLN1 (9q21.32)MCPH1 (8p23.1) / CSMD1 (8p23.2)
RNF170 (8p11.21) / CSMD1 (8p23.2)WHSC1L1 (8p11.23) / CSMD1 (8p23.2)CSMD1 8p23.2 / C15orf41 15q14
MCPH1 8p23.1 / CSMD1 8p23.2RNF170 8p11.21 / CSMD1 8p23.2WHSC1L1 8p11.23 / CSMD1 8p23.2

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

 


External links

Nomenclature
HGNC (Hugo)CSMD1   14026
Cards
Entrez_Gene (NCBI)CSMD1  64478  CUB and Sushi multiple domains 1
AliasesPPP1R24
GeneCards (Weizmann)CSMD1
Ensembl hg19 (Hinxton)ENSG00000183117 [Gene_View]  chr8:2792875-4852328 [Contig_View]  CSMD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000183117 [Gene_View]  chr8:2792875-4852328 [Contig_View]  CSMD1 [Vega]
ICGC DataPortalENSG00000183117
TCGA cBioPortalCSMD1
AceView (NCBI)CSMD1
Genatlas (Paris)CSMD1
WikiGenes64478
SOURCE (Princeton)CSMD1
Genetics Home Reference (NIH)CSMD1
Genomic and cartography
GoldenPath hg19 (UCSC)CSMD1  -     chr8:2792875-4852328 -  8p23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CSMD1  -     8p23.2   [Description]    (hg38-Dec_2013)
EnsemblCSMD1 - 8p23.2 [CytoView hg19]  CSMD1 - 8p23.2 [CytoView hg38]
Mapping of homologs : NCBICSMD1 [Mapview hg19]  CSMD1 [Mapview hg38]
OMIM608397   
Gene and transcription
Genbank (Entrez)AA889055 AB067477 AB209502 AF333704 AK126857
RefSeq transcript (Entrez)NM_033225
RefSeq genomic (Entrez)NC_000008 NC_018919 NT_023736 NW_004929335
Consensus coding sequences : CCDS (NCBI)CSMD1
Cluster EST : UnigeneHs.571466 [ NCBI ]
CGAP (NCI)Hs.571466
Alternative Splicing GalleryENSG00000183117
Gene ExpressionCSMD1 [ NCBI-GEO ]   CSMD1 [ EBI - ARRAY_EXPRESS ]   CSMD1 [ SEEK ]   CSMD1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSMD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)64478
GTEX Portal (Tissue expression)CSMD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96PZ7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96PZ7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96PZ7
Splice isoforms : SwissVarQ96PZ7
PhosPhoSitePlusQ96PZ7
Domaine pattern : Prosite (Expaxy)CUB (PS01180)    SUSHI (PS50923)   
Domains : Interpro (EBI)CUB_dom    Sushi_SCR_CCP_dom   
Domain families : Pfam (Sanger)CUB (PF00431)    Sushi (PF00084)   
Domain families : Pfam (NCBI)pfam00431    pfam00084   
Domain families : Smart (EMBL)CCP (SM00032)  CUB (SM00042)  
Conserved Domain (NCBI)CSMD1
DMDM Disease mutations64478
Blocks (Seattle)CSMD1
PDB (SRS)2EHF   
PDB (PDBSum)2EHF   
PDB (IMB)2EHF   
PDB (RSDB)2EHF   
Structural Biology KnowledgeBase2EHF   
SCOP (Structural Classification of Proteins)2EHF   
CATH (Classification of proteins structures)2EHF   
SuperfamilyQ96PZ7
Human Protein AtlasENSG00000183117
Peptide AtlasQ96PZ7
HPRD10523
IPIIPI00394718   IPI00394719   IPI00394721   IPI00978736   IPI00940642   IPI00394720   
Protein Interaction databases
DIP (DOE-UCLA)Q96PZ7
IntAct (EBI)Q96PZ7
FunCoupENSG00000183117
BioGRIDCSMD1
STRING (EMBL)CSMD1
ZODIACCSMD1
Ontologies - Pathways
QuickGOQ96PZ7
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkCSMD1
Atlas of Cancer Signalling NetworkCSMD1
Wikipedia pathwaysCSMD1
Orthology - Evolution
OrthoDB64478
GeneTree (enSembl)ENSG00000183117
Phylogenetic Trees/Animal Genes : TreeFamCSMD1
HOVERGENQ96PZ7
HOGENOMQ96PZ7
Homologs : HomoloGeneCSMD1
Homology/Alignments : Family Browser (UCSC)CSMD1
Gene fusions - Rearrangements
Fusion : MitelmanCSMD1/C15orf41 [8p23.2/15q14]  
Fusion : MitelmanMCPH1/CSMD1 [8p23.1/8p23.2]  [t(8;8)(p23;p23)]  
Fusion : MitelmanRNF170/CSMD1 [8p11.21/8p23.2]  [t(8;8)(p11;p23)]  
Fusion : MitelmanWHSC1L1/CSMD1 [8p11.23/8p23.2]  [t(8;8)(p12;p23)]  
Fusion: TCGACSMD1 8p23.2 C15orf41 15q14 LUSC
Fusion: TCGAMCPH1 8p23.1 CSMD1 8p23.2 BRCA
Fusion: TCGARNF170 8p11.21 CSMD1 8p23.2 PRAD
Fusion: TCGAWHSC1L1 8p11.23 CSMD1 8p23.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSMD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSMD1
dbVarCSMD1
ClinVarCSMD1
1000_GenomesCSMD1 
Exome Variant ServerCSMD1
ExAC (Exome Aggregation Consortium)CSMD1 (select the gene name)
Genetic variants : HAPMAP64478
Genomic Variants (DGV)CSMD1 [DGVbeta]
DECIPHER (Syndromes)8:2792875-4852328  ENSG00000183117
CONAN: Copy Number AnalysisCSMD1 
Mutations
ICGC Data PortalCSMD1 
TCGA Data PortalCSMD1 
Broad Tumor PortalCSMD1
OASIS PortalCSMD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSMD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSMD1
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)LOVD - Leiden Open Variation Database
BioMutasearch CSMD1
DgiDB (Drug Gene Interaction Database)CSMD1
DoCM (Curated mutations)CSMD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSMD1 (select a term)
intoGenCSMD1
Cancer3DCSMD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608397   
Orphanet
MedgenCSMD1
Genetic Testing Registry CSMD1
NextProtQ96PZ7 [Medical]
TSGene64478
GENETestsCSMD1
Huge Navigator CSMD1 [HugePedia]
snp3D : Map Gene to Disease64478
BioCentury BCIQCSMD1
ClinGenCSMD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD64478
Chemical/Pharm GKB GenePA26947
Clinical trialCSMD1
Miscellaneous
canSAR (ICR)CSMD1 (select the gene name)
Probes
Litterature
PubMed80 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSMD1
EVEXCSMD1
GoPubMedCSMD1
iHOPCSMD1
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 : Thu Mar 30 14:57:44 CEST 2017

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