Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CSHL1 (chorionic somatomammotropin hormone-like 1)

Identity

Alias_namesCSHP1
Alias_symbol (synonym)hCS-L
CSL
CS-5
MGC149868
Other alias
HGNC (Hugo) CSHL1
LocusID (NCBI) 1444
Atlas_Id 62123
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 61986965 and ends at 61988618 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CSHL1 (17q23.3) / PPP6R3 (11q13.2)

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)CSHL1   2442
Cards
Entrez_Gene (NCBI)CSHL1  1444  chorionic somatomammotropin hormone-like 1
AliasesCS-5; CSHP1; CSL; hCS-L
GeneCards (Weizmann)CSHL1
Ensembl hg19 (Hinxton)ENSG00000204414 [Gene_View]  chr17:61986965-61988618 [Contig_View]  CSHL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000204414 [Gene_View]  chr17:61986965-61988618 [Contig_View]  CSHL1 [Vega]
ICGC DataPortalENSG00000204414
TCGA cBioPortalCSHL1
AceView (NCBI)CSHL1
Genatlas (Paris)CSHL1
WikiGenes1444
SOURCE (Princeton)CSHL1
Genetics Home Reference (NIH)CSHL1
Genomic and cartography
GoldenPath hg19 (UCSC)CSHL1  -     chr17:61986965-61988618 -  17q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CSHL1  -     17q23.3   [Description]    (hg38-Dec_2013)
EnsemblCSHL1 - 17q23.3 [CytoView hg19]  CSHL1 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBICSHL1 [Mapview hg19]  CSHL1 [Mapview hg38]
OMIM603515   
Gene and transcription
Genbank (Entrez)AK300190 BC029365 BC119747
RefSeq transcript (Entrez)NM_001318 NM_022579 NM_022580 NM_022581
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)CSHL1
Cluster EST : UnigeneHs.655225 [ NCBI ]
CGAP (NCI)Hs.655225
Alternative Splicing GalleryENSG00000204414
Gene ExpressionCSHL1 [ NCBI-GEO ]   CSHL1 [ EBI - ARRAY_EXPRESS ]   CSHL1 [ SEEK ]   CSHL1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSHL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1444
GTEX Portal (Tissue expression)CSHL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14406   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14406  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14406
Splice isoforms : SwissVarQ14406
PhosPhoSitePlusQ14406
Domaine pattern : Prosite (Expaxy)SOMATOTROPIN_2 (PS00338)   
Domains : Interpro (EBI)4_helix_cytokine-like_core    4_helix_cytokine_core    Somatotropin    Somatotropin_CS   
Domain families : Pfam (Sanger)Hormone_1 (PF00103)   
Domain families : Pfam (NCBI)pfam00103   
Conserved Domain (NCBI)CSHL1
DMDM Disease mutations1444
Blocks (Seattle)CSHL1
SuperfamilyQ14406
Human Protein AtlasENSG00000204414
Peptide AtlasQ14406
HPRD04623
IPIIPI00000889   IPI00218282   IPI00374406   IPI00374407   
Protein Interaction databases
DIP (DOE-UCLA)Q14406
IntAct (EBI)Q14406
FunCoupENSG00000204414
BioGRIDCSHL1
STRING (EMBL)CSHL1
ZODIACCSHL1
Ontologies - Pathways
QuickGOQ14406
Ontology : AmiGOhormone activity  cellular_component  extracellular region  biological_process  metal ion binding  
Ontology : EGO-EBIhormone activity  cellular_component  extracellular region  biological_process  metal ion binding  
NDEx NetworkCSHL1
Atlas of Cancer Signalling NetworkCSHL1
Wikipedia pathwaysCSHL1
Orthology - Evolution
OrthoDB1444
GeneTree (enSembl)ENSG00000204414
Phylogenetic Trees/Animal Genes : TreeFamCSHL1
HOVERGENQ14406
HOGENOMQ14406
Homologs : HomoloGeneCSHL1
Homology/Alignments : Family Browser (UCSC)CSHL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSHL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSHL1
dbVarCSHL1
ClinVarCSHL1
1000_GenomesCSHL1 
Exome Variant ServerCSHL1
ExAC (Exome Aggregation Consortium)CSHL1 (select the gene name)
Genetic variants : HAPMAP1444
Genomic Variants (DGV)CSHL1 [DGVbeta]
DECIPHER (Syndromes)17:61986965-61988618  ENSG00000204414
CONAN: Copy Number AnalysisCSHL1 
Mutations
ICGC Data PortalCSHL1 
TCGA Data PortalCSHL1 
Broad Tumor PortalCSHL1
OASIS PortalCSHL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSHL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSHL1
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 CSHL1
DgiDB (Drug Gene Interaction Database)CSHL1
DoCM (Curated mutations)CSHL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSHL1 (select a term)
intoGenCSHL1
Cancer3DCSHL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603515   
Orphanet
MedgenCSHL1
Genetic Testing Registry CSHL1
NextProtQ14406 [Medical]
TSGene1444
GENETestsCSHL1
Huge Navigator CSHL1 [HugePedia]
snp3D : Map Gene to Disease1444
BioCentury BCIQCSHL1
ClinGenCSHL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1444
Chemical/Pharm GKB GenePA26945
Clinical trialCSHL1
Miscellaneous
canSAR (ICR)CSHL1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSHL1
EVEXCSHL1
GoPubMedCSHL1
iHOPCSHL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:27 CET 2017

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