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CPSF6 (cleavage and polyadenylation specific factor 6)

Identity

Alias (NCBI)CFIM
CFIM68
CFIM72
HPBRII-4
HPBRII-7
HGNC (Hugo) CPSF6
HGNC Alias symbCFIM
HPBRII-4
HPBRII-7
CFIM68
CFIM72
HGNC Alias namecleavage factor Im complex 68 kDa subunit
HGNC Previous namecleavage and polyadenylation specific factor 6, 68kD subunit
 cleavage and polyadenylation specific factor 6, 68kDa
LocusID (NCBI) 11052
Atlas_Id 52984
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 69239569 and ends at 69274358 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)
CPSF6 (12q15) / C9orf3 (9q22.32)CPSF6 (12q15) / CHMP1A (16q24.3)CPSF6 (12q15) / CPSF6 (12q15)
CPSF6 (12q15) / FGFR1 (8p11.23)CPSF6 (12q15) / MDM1 (12q15)CPSF6 (12q15) / NAV3 (12q21.2)
CPSF6 (12q15) / OSBPL8 (12q21.2)CPSF6 (12q15) / PTPRB (12q15)CPSF6 (12q15) / SH3YL1 (2p25.3)
ZNF28 (19q13.41) / CPSF6 (12q15)CPSF6 12q15 / C9orf3 9q22.32CPSF6 12q15 / CHMP1A 16q24.3
CPSF6 12q15 / MDM1 12q15CPSF6 12q15 / NAV3 12q21.2CPSF6 12q15 / OSBPL8 12q21.2
CPSF6 12q15 / PTPRB 12q15CPSF6 12q15 / SH3YL1 2p25.3

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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  8p11 myeloproliferative syndrome (FGFR1)
t(8;12)(p12;q15) CPSF6/FGFR1


External links

 

Nomenclature
HGNC (Hugo)CPSF6   13871
Cards
Entrez_Gene (NCBI)CPSF6    cleavage and polyadenylation specific factor 6
AliasesCFIM; CFIM68; CFIM72; HPBRII-4; 
HPBRII-7
GeneCards (Weizmann)CPSF6
Ensembl hg19 (Hinxton)ENSG00000111605 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111605 [Gene_View]  ENSG00000111605 [Sequence]  chr12:69239569-69274358 [Contig_View]  CPSF6 [Vega]
ICGC DataPortalENSG00000111605
TCGA cBioPortalCPSF6
AceView (NCBI)CPSF6
Genatlas (Paris)CPSF6
SOURCE (Princeton)CPSF6
Genetics Home Reference (NIH)CPSF6
Genomic and cartography
GoldenPath hg38 (UCSC)CPSF6  -     chr12:69239569-69274358 +  12q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CPSF6  -     12q15   [Description]    (hg19-Feb_2009)
GoldenPathCPSF6 - 12q15 [CytoView hg19]  CPSF6 - 12q15 [CytoView hg38]
ImmunoBaseENSG00000111605
Genome Data Viewer NCBICPSF6 [Mapview hg19]  
OMIM604979   
Gene and transcription
Genbank (Entrez)AK021534 AK021833 AK098338 AK223568 AK292024
RefSeq transcript (Entrez)NM_001300947 NM_007007
Consensus coding sequences : CCDS (NCBI)CPSF6
Gene ExpressionCPSF6 [ NCBI-GEO ]   CPSF6 [ EBI - ARRAY_EXPRESS ]   CPSF6 [ SEEK ]   CPSF6 [ MEM ]
Gene Expression Viewer (FireBrowse)CPSF6 [ Firebrowse - Broad ]
GenevisibleExpression of CPSF6 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11052
GTEX Portal (Tissue expression)CPSF6
Human Protein AtlasENSG00000111605-CPSF6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ16630   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ16630  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ16630
PhosPhoSitePlusQ16630
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)CPSF6    CPSF6/7    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)CPSF6
PDB (RSDB)3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
PDB Europe3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
PDB (PDBSum)3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
PDB (IMB)3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
Structural Biology KnowledgeBase3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
SCOP (Structural Classification of Proteins)3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
CATH (Classification of proteins structures)3P5T    3P6Y    3Q2S    3Q2T    4B4N    4U0A    4U0B    4WYM    6AY9    6GX9   
SuperfamilyQ16630
AlphaFold pdb e-kbQ16630   
Human Protein Atlas [tissue]ENSG00000111605-CPSF6 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q16630
IntAct (EBI)Q16630
BioGRIDCPSF6
STRING (EMBL)CPSF6
ZODIACCPSF6
Ontologies - Pathways
QuickGOQ16630
Ontology : AmiGORNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  cytoplasm  mRNA cleavage and polyadenylation specificity factor complex  mRNA cleavage factor complex  mRNA processing  membrane  nuclear speck  interchromatin granule  paraspeckles  ribosomal large subunit binding  positive regulation of RNA export from nucleus  protein tetramerization  protein heterotetramerization  pre-mRNA cleavage required for polyadenylation  mRNA alternative polyadenylation  messenger ribonucleoprotein complex assembly  exon-exon junction complex binding  ribonucleoprotein complex  
Ontology : EGO-EBIRNA binding  RNA binding  mRNA binding  protein binding  nucleus  nucleoplasm  perichromatin fibrils  cytoplasm  mRNA cleavage and polyadenylation specificity factor complex  mRNA cleavage factor complex  mRNA processing  membrane  nuclear speck  interchromatin granule  paraspeckles  ribosomal large subunit binding  positive regulation of RNA export from nucleus  protein tetramerization  protein heterotetramerization  pre-mRNA cleavage required for polyadenylation  mRNA alternative polyadenylation  messenger ribonucleoprotein complex assembly  exon-exon junction complex binding  ribonucleoprotein complex  
Pathways : KEGGmRNA surveillance pathway   
NDEx NetworkCPSF6
Atlas of Cancer Signalling NetworkCPSF6
Wikipedia pathwaysCPSF6
Orthology - Evolution
OrthoDB11052
GeneTree (enSembl)ENSG00000111605
Phylogenetic Trees/Animal Genes : TreeFamCPSF6
Homologs : HomoloGeneCPSF6
Homology/Alignments : Family Browser (UCSC)CPSF6
Gene fusions - Rearrangements
Fusion : MitelmanCPSF6/C9orf3 [12q15/9q22.32]  
Fusion : MitelmanCPSF6/CHMP1A [12q15/16q24.3]  
Fusion : MitelmanCPSF6/FGFR1 [12q15/8p11.23]  
Fusion : MitelmanCPSF6/NAV3 [12q15/12q21.2]  
Fusion : MitelmanCPSF6/OSBPL8 [12q15/12q21.2]  
Fusion : MitelmanCPSF6/SH3YL1 [12q15/2p25.3]  
Fusion : QuiverCPSF6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCPSF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CPSF6
dbVarCPSF6
ClinVarCPSF6
MonarchCPSF6
1000_GenomesCPSF6 
Exome Variant ServerCPSF6
GNOMAD BrowserENSG00000111605
Varsome BrowserCPSF6
ACMGCPSF6 variants
VarityQ16630
Genomic Variants (DGV)CPSF6 [DGVbeta]
DECIPHERCPSF6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCPSF6 
Mutations
ICGC Data PortalCPSF6 
TCGA Data PortalCPSF6 
Broad Tumor PortalCPSF6
OASIS PortalCPSF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCPSF6  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DCPSF6
Mutations and Diseases : HGMDCPSF6
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCPSF6
DgiDB (Drug Gene Interaction Database)CPSF6
DoCM (Curated mutations)CPSF6
CIViC (Clinical Interpretations of Variants in Cancer)CPSF6
Cancer3DCPSF6
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604979   
Orphanet
DisGeNETCPSF6
MedgenCPSF6
Genetic Testing Registry CPSF6
NextProtQ16630 [Medical]
GENETestsCPSF6
Target ValidationCPSF6
Huge Navigator CPSF6 [HugePedia]
ClinGenCPSF6
Clinical trials, drugs, therapy
MyCancerGenomeCPSF6
Protein Interactions : CTDCPSF6
Pharm GKB GenePA26846
PharosQ16630
Clinical trialCPSF6
Miscellaneous
canSAR (ICR)CPSF6
HarmonizomeCPSF6
DataMed IndexCPSF6
Probes
Litterature
PubMed158 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCPSF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:05:05 CEST 2021

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