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CNN1 (calponin 1)

Identity

Alias_namescalponin 1
Alias_symbol (synonym)SMCC
Sm-Calp
Other aliasHEL-S-14
HGNC (Hugo) CNN1
LocusID (NCBI) 1264
Atlas_Id 40113
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 11649532 and ends at 11661138 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CNN1 (19p13.2) / DYNLRB1 (20q11.22)CNN1 (19p13.2) / FAM129B (9q33.3)CNN1 (19p13.2) / STX16 (20q13.32)
FZR1 (19p13.3) / CNN1 (19p13.2)JADE3 (Xp11.23) / CNN1 (19p13.2)CNN1 19p13.2 / FAM129B 9q33.3
FZR1 19p13.3 / CNN1 19p13.2

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)CNN1   2155
Cards
Entrez_Gene (NCBI)CNN1  1264  calponin 1
AliasesHEL-S-14; SMCC; Sm-Calp
GeneCards (Weizmann)CNN1
Ensembl hg19 (Hinxton)ENSG00000130176 [Gene_View]  chr19:11649532-11661138 [Contig_View]  CNN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130176 [Gene_View]  chr19:11649532-11661138 [Contig_View]  CNN1 [Vega]
ICGC DataPortalENSG00000130176
TCGA cBioPortalCNN1
AceView (NCBI)CNN1
Genatlas (Paris)CNN1
WikiGenes1264
SOURCE (Princeton)CNN1
Genetics Home Reference (NIH)CNN1
Genomic and cartography
GoldenPath hg19 (UCSC)CNN1  -     chr19:11649532-11661138 +  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CNN1  -     19p13.2   [Description]    (hg38-Dec_2013)
EnsemblCNN1 - 19p13.2 [CytoView hg19]  CNN1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBICNN1 [Mapview hg19]  CNN1 [Mapview hg38]
OMIM600806   
Gene and transcription
Genbank (Entrez)AK223234 AK300837 AK301888 AK313255 AK316406
RefSeq transcript (Entrez)NM_001299 NM_001308341 NM_001308342
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011295 NW_004929414
Consensus coding sequences : CCDS (NCBI)CNN1
Cluster EST : UnigeneHs.465929 [ NCBI ]
CGAP (NCI)Hs.465929
Alternative Splicing GalleryENSG00000130176
Gene ExpressionCNN1 [ NCBI-GEO ]   CNN1 [ EBI - ARRAY_EXPRESS ]   CNN1 [ SEEK ]   CNN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CNN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1264
GTEX Portal (Tissue expression)CNN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP51911   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP51911  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP51911
Splice isoforms : SwissVarP51911
PhosPhoSitePlusP51911
Domaine pattern : Prosite (Expaxy)CALPONIN_1 (PS01052)    CALPONIN_2 (PS51122)    CH (PS50021)   
Domains : Interpro (EBI)Calponin/LIMCH1    Calponin_repeat    CH-domain    SM22_calponin   
Domain families : Pfam (Sanger)Calponin (PF00402)    CH (PF00307)   
Domain families : Pfam (NCBI)pfam00402    pfam00307   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)CNN1
DMDM Disease mutations1264
Blocks (Seattle)CNN1
PDB (SRS)1WYP   
PDB (PDBSum)1WYP   
PDB (IMB)1WYP   
PDB (RSDB)1WYP   
Structural Biology KnowledgeBase1WYP   
SCOP (Structural Classification of Proteins)1WYP   
CATH (Classification of proteins structures)1WYP   
SuperfamilyP51911
Human Protein AtlasENSG00000130176
Peptide AtlasP51911
HPRD02884
IPIIPI00021264   IPI01015371   IPI01014726   
Protein Interaction databases
DIP (DOE-UCLA)P51911
IntAct (EBI)P51911
FunCoupENSG00000130176
BioGRIDCNN1
STRING (EMBL)CNN1
ZODIACCNN1
Ontologies - Pathways
QuickGOP51911
Ontology : AmiGOactin binding  calmodulin binding  cytoskeleton  focal adhesion  regulation of smooth muscle contraction  actomyosin structure organization  
Ontology : EGO-EBIactin binding  calmodulin binding  cytoskeleton  focal adhesion  regulation of smooth muscle contraction  actomyosin structure organization  
NDEx NetworkCNN1
Atlas of Cancer Signalling NetworkCNN1
Wikipedia pathwaysCNN1
Orthology - Evolution
OrthoDB1264
GeneTree (enSembl)ENSG00000130176
Phylogenetic Trees/Animal Genes : TreeFamCNN1
HOVERGENP51911
HOGENOMP51911
Homologs : HomoloGeneCNN1
Homology/Alignments : Family Browser (UCSC)CNN1
Gene fusions - Rearrangements
Fusion : MitelmanCNN1/FAM129B [19p13.2/9q33.3]  
Fusion : MitelmanFZR1/CNN1 [19p13.3/19p13.2]  [t(19;19)(p13;p13)]  
Fusion: TCGACNN1 19p13.2 FAM129B 9q33.3 PRAD
Fusion: TCGAFZR1 19p13.3 CNN1 19p13.2 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCNN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CNN1
dbVarCNN1
ClinVarCNN1
1000_GenomesCNN1 
Exome Variant ServerCNN1
ExAC (Exome Aggregation Consortium)CNN1 (select the gene name)
Genetic variants : HAPMAP1264
Genomic Variants (DGV)CNN1 [DGVbeta]
DECIPHER (Syndromes)19:11649532-11661138  ENSG00000130176
CONAN: Copy Number AnalysisCNN1 
Mutations
ICGC Data PortalCNN1 
TCGA Data PortalCNN1 
Broad Tumor PortalCNN1
OASIS PortalCNN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCNN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCNN1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CNN1
DgiDB (Drug Gene Interaction Database)CNN1
DoCM (Curated mutations)CNN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CNN1 (select a term)
intoGenCNN1
Cancer3DCNN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600806   
Orphanet
MedgenCNN1
Genetic Testing Registry CNN1
NextProtP51911 [Medical]
TSGene1264
GENETestsCNN1
Huge Navigator CNN1 [HugePedia]
snp3D : Map Gene to Disease1264
BioCentury BCIQCNN1
ClinGenCNN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1264
Chemical/Pharm GKB GenePA26665
Clinical trialCNN1
Miscellaneous
canSAR (ICR)CNN1 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCNN1
EVEXCNN1
GoPubMedCNN1
iHOPCNN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:57:02 CEST 2017

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