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SMTNL1 (smoothelin like 1)

Identity

Alias_symbol (synonym)CHASM
Other alias
HGNC (Hugo) SMTNL1
LocusID (NCBI) 219537
Atlas_Id 52155
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 57542641 and ends at 57550274 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TMX2 (11q12.1) / SMTNL1 (11q12.1)ZDHHC5 (11q12.1) / SMTNL1 (11q12.1)ZDHHC5 11q12.1 / SMTNL1 11q12.1

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)SMTNL1   32394
Cards
Entrez_Gene (NCBI)SMTNL1  219537  smoothelin like 1
AliasesCHASM
GeneCards (Weizmann)SMTNL1
Ensembl hg19 (Hinxton)ENSG00000214872 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000214872 [Gene_View]  chr11:57542641-57550274 [Contig_View]  SMTNL1 [Vega]
ICGC DataPortalENSG00000214872
TCGA cBioPortalSMTNL1
AceView (NCBI)SMTNL1
Genatlas (Paris)SMTNL1
WikiGenes219537
SOURCE (Princeton)SMTNL1
Genetics Home Reference (NIH)SMTNL1
Genomic and cartography
GoldenPath hg38 (UCSC)SMTNL1  -     chr11:57542641-57550274 +  11q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SMTNL1  -     11q12.1   [Description]    (hg19-Feb_2009)
EnsemblSMTNL1 - 11q12.1 [CytoView hg19]  SMTNL1 - 11q12.1 [CytoView hg38]
Mapping of homologs : NCBISMTNL1 [Mapview hg19]  SMTNL1 [Mapview hg38]
OMIM613664   
Gene and transcription
Genbank (Entrez)BC172381
RefSeq transcript (Entrez)NM_001105565
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SMTNL1
Cluster EST : UnigeneHs.68756 [ NCBI ]
CGAP (NCI)Hs.68756
Alternative Splicing GalleryENSG00000214872
Gene ExpressionSMTNL1 [ NCBI-GEO ]   SMTNL1 [ EBI - ARRAY_EXPRESS ]   SMTNL1 [ SEEK ]   SMTNL1 [ MEM ]
Gene Expression Viewer (FireBrowse)SMTNL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)219537
GTEX Portal (Tissue expression)SMTNL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtA8MU46   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA8MU46  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA8MU46
Splice isoforms : SwissVarA8MU46
PhosPhoSitePlusA8MU46
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain   
Domain families : Pfam (Sanger)CH (PF00307)   
Domain families : Pfam (NCBI)pfam00307   
Domain families : Smart (EMBL)CH (SM00033)  
Conserved Domain (NCBI)SMTNL1
DMDM Disease mutations219537
Blocks (Seattle)SMTNL1
SuperfamilyA8MU46
Human Protein AtlasENSG00000214872
Peptide AtlasA8MU46
IPIIPI00377167   IPI00940640   
Protein Interaction databases
DIP (DOE-UCLA)A8MU46
IntAct (EBI)A8MU46
FunCoupENSG00000214872
BioGRIDSMTNL1
STRING (EMBL)SMTNL1
ZODIACSMTNL1
Ontologies - Pathways
QuickGOA8MU46
Ontology : AmiGOcalmodulin binding  nucleus  cytoplasm  M band  I band  contractile fiber  positive regulation of vasoconstriction  negative regulation of blood vessel diameter  
Ontology : EGO-EBIcalmodulin binding  nucleus  cytoplasm  M band  I band  contractile fiber  positive regulation of vasoconstriction  negative regulation of blood vessel diameter  
NDEx NetworkSMTNL1
Atlas of Cancer Signalling NetworkSMTNL1
Wikipedia pathwaysSMTNL1
Orthology - Evolution
OrthoDB219537
GeneTree (enSembl)ENSG00000214872
Phylogenetic Trees/Animal Genes : TreeFamSMTNL1
HOVERGENA8MU46
HOGENOMA8MU46
Homologs : HomoloGeneSMTNL1
Homology/Alignments : Family Browser (UCSC)SMTNL1
Gene fusions - Rearrangements
Fusion : MitelmanZDHHC5/SMTNL1 [11q12.1/11q12.1]  [t(11;11)(q12;q12)]  
Fusion: TCGAZDHHC5 11q12.1 SMTNL1 11q12.1 OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSMTNL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SMTNL1
dbVarSMTNL1
ClinVarSMTNL1
1000_GenomesSMTNL1 
Exome Variant ServerSMTNL1
ExAC (Exome Aggregation Consortium)SMTNL1 (select the gene name)
Genetic variants : HAPMAP219537
Genomic Variants (DGV)SMTNL1 [DGVbeta]
DECIPHERSMTNL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSMTNL1 
Mutations
ICGC Data PortalSMTNL1 
TCGA Data PortalSMTNL1 
Broad Tumor PortalSMTNL1
OASIS PortalSMTNL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSMTNL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSMTNL1
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 SMTNL1
DgiDB (Drug Gene Interaction Database)SMTNL1
DoCM (Curated mutations)SMTNL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SMTNL1 (select a term)
intoGenSMTNL1
Cancer3DSMTNL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM613664   
Orphanet
MedgenSMTNL1
Genetic Testing Registry SMTNL1
NextProtA8MU46 [Medical]
TSGene219537
GENETestsSMTNL1
Target ValidationSMTNL1
Huge Navigator SMTNL1 [HugePedia]
snp3D : Map Gene to Disease219537
BioCentury BCIQSMTNL1
ClinGenSMTNL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD219537
Chemical/Pharm GKB GenePA143485618
Clinical trialSMTNL1
Miscellaneous
canSAR (ICR)SMTNL1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSMTNL1
EVEXSMTNL1
GoPubMedSMTNL1
iHOPSMTNL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:56:36 CEST 2017

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