CSTF1 (cleavage stimulation factor subunit 1)

1. Identity

Alias_names
General Information
cleavage stimulation factor, 3' pre-RNA, subunit 1
Other aliasCstF-50
CstFp50
HGNC (Hugo) CSTF1
LocusID (NCBI) 1477
Atlas_Id 40182
Location 20q13.2  [Link to chromosome band 20q13]
Location_base_pair Starts at 56392518 and ends at 56404526 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
CSTF1 (20q13.2) / BLM (15q26.1)CSTF1 (20q13.2) / CSTF1 (20q13.2)GADD45GIP1 (19p13.2) / CSTF1 (20q13.2)
PRRC2C (1q24.3) / CSTF1 (20q13.2)CSTF1 20q13.2 / BLM 15q26.1

2. DNA/RNA

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(15;20)(q26;q13) CSTF1/BLM
t(19;20)(p13;q13) GADD45GIP1/CSTF1

3. External links

Nomenclature
HGNC (Hugo)CSTF1   2483
Cards
Entrez_Gene (NCBI)CSTF1  1477  cleavage stimulation factor subunit 1
AliasesCstF-50; CstFp50
GeneCards (Weizmann)CSTF1
Ensembl hg19 (Hinxton)ENSG00000101138 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000101138 [Gene_View] &nbspENSG00000101138 [Sequence]  chr20:56392518-56404526 [Contig_View]  CSTF1 [Vega]
ICGC DataPortalENSG00000101138
TCGA cBioPortalCSTF1
AceView (NCBI)CSTF1
Genatlas (Paris)CSTF1
WikiGenes1477
SOURCE (Princeton)CSTF1
Genetics Home Reference (NIH)CSTF1
Genomic and cartography
GoldenPath hg38 (UCSC)CSTF1  -     chr20:56392518-56404526 +  20q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CSTF1  -     20q13.2   [Description]    (hg19-Feb_2009)
EnsemblCSTF1 - 20q13.2 [CytoView hg19]  CSTF1 - 20q13.2 [CytoView hg38]
Mapping of homologs : NCBICSTF1 [Mapview hg19]  CSTF1 [Mapview hg38]
OMIM600369   
Gene and transcription
Genbank (Entrez)AA037145 AK293182 AK307144 AK312774 BC001011
RefSeq transcript (Entrez)NM_001033521 NM_001033522 NM_001324
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CSTF1
Cluster EST : UnigeneHs.172865 [ NCBI ]
CGAP (NCI)Hs.172865
Alternative Splicing GalleryENSG00000101138
Gene ExpressionCSTF1 [ NCBI-GEO ]   CSTF1 [ EBI - ARRAY_EXPRESS ]   CSTF1 [ SEEK ]   CSTF1 [ MEM ]
Gene Expression Viewer (FireBrowse)CSTF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)1477
GTEX Portal (Tissue expression)CSTF1
Human Protein AtlasENSG00000101138-CSTF1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05048   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05048  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05048
Splice isoforms : SwissVarQ05048
PhosPhoSitePlusQ05048
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)CSTF1_dimer    CSTF1_dimer_sf    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom    WD40_repeat_dom_sf   
Domain families : Pfam (Sanger)CSTF1_dimer (PF16699)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam16699    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)CSTF1
DMDM Disease mutations1477
Blocks (Seattle)CSTF1
PDB (RSDB)6B3X   
PDB Europe6B3X   
PDB (PDBSum)6B3X   
PDB (IMB)6B3X   
Structural Biology KnowledgeBase6B3X   
SCOP (Structural Classification of Proteins)6B3X   
CATH (Classification of proteins structures)6B3X   
SuperfamilyQ05048
Human Protein Atlas [tissue]ENSG00000101138-CSTF1 [tissue]
Peptide AtlasQ05048
HPRD02653
IPIIPI00011528   IPI00979109   IPI00644499   IPI00789964   
Protein Interaction databases
DIP (DOE-UCLA)Q05048
IntAct (EBI)Q05048
FunCoupENSG00000101138
BioGRIDCSTF1
STRING (EMBL)CSTF1
ZODIACCSTF1
Ontologies - Pathways
QuickGOQ05048
Ontology : AmiGOmRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  nucleoplasm  mRNA cleavage stimulating factor complex  termination of RNA polymerase II transcription  mRNA 3'-end processing  
Ontology : EGO-EBImRNA splicing, via spliceosome  RNA binding  protein binding  nucleoplasm  nucleoplasm  mRNA cleavage stimulating factor complex  termination of RNA polymerase II transcription  mRNA 3'-end processing  
Pathways : KEGGmRNA surveillance pathway   
NDEx NetworkCSTF1
Atlas of Cancer Signalling NetworkCSTF1
Wikipedia pathwaysCSTF1
Orthology - Evolution
OrthoDB1477
GeneTree (enSembl)ENSG00000101138
Phylogenetic Trees/Animal Genes : TreeFamCSTF1
HOGENOMQ05048
Homologs : HomoloGeneCSTF1
Homology/Alignments : Family Browser (UCSC)CSTF1
Gene fusions - Rearrangements
Fusion : MitelmanCSTF1/BLM [20q13.2/15q26.1] &nbsp
Fusion : MitelmanGADD45GIP1/CSTF1 [19p13.2/20q13.2] &nbsp[t(19;20)(p13;q13)]  
Fusion PortalCSTF1 20q13.2 BLM 15q26.1 SKCM
Fusion : QuiverCSTF1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCSTF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CSTF1
dbVarCSTF1
ClinVarCSTF1
1000_GenomesCSTF1 
Exome Variant ServerCSTF1
ExAC (Exome Aggregation Consortium)ENSG00000101138
GNOMAD BrowserENSG00000101138
Varsome BrowserCSTF1
Genetic variants : HAPMAP1477
Genomic Variants (DGV)CSTF1 [DGVbeta]
DECIPHERCSTF1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCSTF1 
Mutations
ICGC Data PortalCSTF1 
TCGA Data PortalCSTF1 
Broad Tumor PortalCSTF1
OASIS PortalCSTF1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCSTF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCSTF1
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 CSTF1
DgiDB (Drug Gene Interaction Database)CSTF1
DoCM (Curated mutations)CSTF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CSTF1 (select a term)
intoGenCSTF1
Cancer3DCSTF1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600369   
Orphanet
DisGeNETCSTF1
MedgenCSTF1
Genetic Testing Registry CSTF1
NextProtQ05048 [Medical]
TSGene1477
GENETestsCSTF1
Target ValidationCSTF1
Huge Navigator CSTF1 [HugePedia]
snp3D : Map Gene to Disease1477
BioCentury BCIQCSTF1
ClinGenCSTF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1477
Chemical/Pharm GKB GenePA26985
Clinical trialCSTF1
Miscellaneous
canSAR (ICR)CSTF1 (select the gene name)
DataMed IndexCSTF1
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCSTF1
EVEXCSTF1
GoPubMedCSTF1
iHOPCSTF1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 18:08:09 CET 2019

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