Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CSH1 (chorionic somatomammotropin hormone 1)

Identity

Alias_symbol (synonym)hCS-A
CSA
PL
CSMT
FLJ75407
Other aliasCS-1
GHB3
hCS-1
HGNC (Hugo) CSH1
LocusID (NCBI) 1442
Atlas_Id 50632
Location 17q23.3  [Link to chromosome band 17q23]
Location_base_pair Starts at 63894908 and ends at 63896661 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACER2 (9p22.1) / CSH1 (17q23.3)CSH1 (17q23.3) / CALD1 (7q33)CSH1 (17q23.3) / FBXW2 (9q33.2)
CSH1 (17q23.3) / FCGR2A (1q23.3)CSH1 (17q23.3) / NFYA (6p21.1)CSH1 (17q23.3) / PAPPA (9q33.1)
CSH1 (17q23.3) / RRBP1 (20p12.1)CSH1 (17q23.3) / SVEP1 (9q31.3)FCHO2 (5q13.2) / CSH1 (17q23.3)
ISYNA1 (19p13.11) / CSH1 (17q23.3)PRRC2B (9q34.13) / CSH1 (17q23.3)SERPINB6 (6p25.2) / CSH1 (17q23.3)
SLC36A4 (11q21) / CSH1 (17q23.3)UBA52 (19p13.11) / CSH1 (17q23.3)

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)CSH1   2440
Cards
Entrez_Gene (NCBI)CSH1  1442  chorionic somatomammotropin hormone 1
AliasesCS-1; CSA; CSMT; GHB3; 
PL; hCS-1; hCS-A
GeneCards (Weizmann)CSH1
Ensembl hg19 (Hinxton)ENSG00000136488 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136488 [Gene_View]  chr17:63894908-63896661 [Contig_View]  CSH1 [Vega]
ICGC DataPortalENSG00000136488
TCGA cBioPortalCSH1
AceView (NCBI)CSH1
Genatlas (Paris)CSH1
WikiGenes1442
SOURCE (Princeton)CSH1
Genetics Home Reference (NIH)CSH1
Genomic and cartography
GoldenPath hg38 (UCSC)CSH1  -     chr17:63894908-63896661 -  17q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSH1  -     17q23.3   [Description]    (hg19-Feb_2009)
EnsemblCSH1 - 17q23.3 [CytoView hg19]  CSH1 - 17q23.3 [CytoView hg38]
Mapping of homologs : NCBICSH1 [Mapview hg19]  CSH1 [Mapview hg38]
OMIM150200   
Gene and transcription
Genbank (Entrez)AK291587 AU134786 BC002717 BC005921 BC020756
RefSeq transcript (Entrez)NM_001317 NM_022640 NM_022641
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSH1
Cluster EST : UnigeneHs.654390 [ NCBI ]
CGAP (NCI)Hs.654390
Alternative Splicing GalleryENSG00000136488
Gene ExpressionCSH1 [ NCBI-GEO ]   CSH1 [ EBI - ARRAY_EXPRESS ]   CSH1 [ SEEK ]   CSH1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSH1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1442
GTEX Portal (Tissue expression)CSH1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0DML2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0DML2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0DML2
Splice isoforms : SwissVarP0DML2
PhosPhoSitePlusP0DML2
Domaine pattern : Prosite (Expaxy)SOMATOTROPIN_1 (PS00266)    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)CSH1
DMDM Disease mutations1442
Blocks (Seattle)CSH1
PDB (SRS)1Z7C   
PDB (PDBSum)1Z7C   
PDB (IMB)1Z7C   
PDB (RSDB)1Z7C   
Structural Biology KnowledgeBase1Z7C   
SCOP (Structural Classification of Proteins)1Z7C   
CATH (Classification of proteins structures)1Z7C   
SuperfamilyP0DML2
Human Protein AtlasENSG00000136488
Peptide AtlasP0DML2
HPRD08350
IPIIPI00000891   IPI00332583   IPI00374576   IPI00025785   IPI00374578   IPI00374579   
Protein Interaction databases
DIP (DOE-UCLA)P0DML2
IntAct (EBI)P0DML2
FunCoupENSG00000136488
BioGRIDCSH1
STRING (EMBL)CSH1
ZODIACCSH1
Ontologies - Pathways
QuickGOP0DML2
Ontology : AmiGOhormone activity  extracellular region  endoplasmic reticulum  endosome lumen  vesicle  metal ion binding  JAK-STAT cascade involved in growth hormone signaling pathway  
Ontology : EGO-EBIhormone activity  extracellular region  endoplasmic reticulum  endosome lumen  vesicle  metal ion binding  JAK-STAT cascade involved in growth hormone signaling pathway  
Pathways : KEGGNeuroactive ligand-receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway   
NDEx NetworkCSH1
Atlas of Cancer Signalling NetworkCSH1
Wikipedia pathwaysCSH1
Orthology - Evolution
OrthoDB1442
GeneTree (enSembl)ENSG00000136488
Phylogenetic Trees/Animal Genes : TreeFamCSH1
HOVERGENP0DML2
HOGENOMP0DML2
Homologs : HomoloGeneCSH1
Homology/Alignments : Family Browser (UCSC)CSH1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSH1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSH1
dbVarCSH1
ClinVarCSH1
1000_GenomesCSH1 
Exome Variant ServerCSH1
ExAC (Exome Aggregation Consortium)CSH1 (select the gene name)
Genetic variants : HAPMAP1442
Genomic Variants (DGV)CSH1 [DGVbeta]
DECIPHERCSH1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSH1 
Mutations
ICGC Data PortalCSH1 
TCGA Data PortalCSH1 
Broad Tumor PortalCSH1
OASIS PortalCSH1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSH1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSH1
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 CSH1
DgiDB (Drug Gene Interaction Database)CSH1
DoCM (Curated mutations)CSH1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSH1 (select a term)
intoGenCSH1
Cancer3DCSH1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM150200   
Orphanet
MedgenCSH1
Genetic Testing Registry CSH1
NextProtP0DML2 [Medical]
TSGene1442
GENETestsCSH1
Target ValidationCSH1
Huge Navigator CSH1 [HugePedia]
snp3D : Map Gene to Disease1442
BioCentury BCIQCSH1
ClinGenCSH1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1442
Chemical/Pharm GKB GenePA26943
Clinical trialCSH1
Miscellaneous
canSAR (ICR)CSH1 (select the gene name)
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSH1
EVEXCSH1
GoPubMedCSH1
iHOPCSH1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:50:46 CEST 2017

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