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PRPF40A (pre-mRNA processing factor 40 homolog A)

Identity

Alias_namesFNBP3
formin-binding protein 3
formin binding protein 3
PRP40 pre-mRNA processing factor 40 homolog A (yeast)
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae)
PRP40 pre-mRNA processing factor 40 homolog A
Alias_symbol (synonym)FLJ20585
FBP11
HYPA
NY-REN-6
HIP10
FBP-11
FLAF1
Prp40
Other aliasHIP-10
HGNC (Hugo) PRPF40A
LocusID (NCBI) 55660
Atlas_Id 72253
Location 2q23.3  [Link to chromosome band 2q23]
Location_base_pair Starts at 152651593 and ends at 152717461 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HELZ (17q24.2) / PRPF40A (2q23.3)PRPF40A (2q23.3) / PRPF40A (2q23.3)PRPF40A (2q23.3) / SOS2 (14q21.3)
SOS2 (14q21.3) / PRPF40A (2q23.3)

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

JTD!WIDTH=15%>TCGA Data Portal
Nomenclature
HGNC (Hugo)PRPF40A   16463
Cards
Entrez_Gene (NCBI)PRPF40A  55660  pre-mRNA processing factor 40 homolog A
AliasesFBP-11; FBP11; FLAF1; FNBP3; 
HIP-10; HIP10; HYPA; NY-REN-6; Prp40
GeneCards (Weizmann)PRPF40A
Ensembl hg19 (Hinxton)ENSG00000196504 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000196504 [Gene_View]  chr2:152651593-152717461 [Contig_View]  PRPF40A [Vega]
ICGC DataPortalENSG00000196504
TCGA cBioPortalPRPF40A
AceView (NCBI)PRPF40A
Genatlas (Paris)PRPF40A
WikiGenes55660
SOURCE (Princeton)PRPF40A
Genetics Home Reference (NIH)PRPF40A
Genomic and cartography
GoldenPath hg38 (UCSC)PRPF40A  -     chr2:152651593-152717461 -  2q23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPF40A  -     2q23.3   [Description]    (hg19-Feb_2009)
EnsemblPRPF40A - 2q23.3 [CytoView hg19]  PRPF40A - 2q23.3 [CytoView hg38]
Mapping of homologs : NCBIPRPF40A [Mapview hg19]  PRPF40A [Mapview hg38]
OMIM612941   
Gene and transcription
Genbank (Entrez)AF049523 AF049524 AF049528 AF151059 AF155096
RefSeq transcript (Entrez)NM_017892
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPF40A
Cluster EST : UnigeneHs.643580 [ NCBI ]
CGAP (NCI)Hs.643580
Alternative Splicing GalleryENSG00000196504
Gene ExpressionPRPF40A [ NCBI-GEO ]   PRPF40A [ EBI - ARRAY_EXPRESS ]   PRPF40A [ SEEK ]   PRPF40A [ MEM ]
Gene Expression Viewer (FireBrowse)PRPF40A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55660
GTEX Portal (Tissue expression)PRPF40A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75400   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75400  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75400
Splice isoforms : SwissVarO75400
PhosPhoSitePlusO75400
Domaine pattern : Prosite (Expaxy)FF (PS51676)    WW_DOMAIN_1 (PS01159)    WW_DOMAIN_2 (PS50020)   
Domains : Interpro (EBI)FF_domain    WW_dom   
Domain families : Pfam (Sanger)FF (PF01846)    WW (PF00397)   
Domain families : Pfam (NCBI)pfam01846    pfam00397   
Domain families : Smart (EMBL)FF (SM00441)  WW (SM00456)  
Conserved Domain (NCBI)PRPF40A
DMDM Disease mutations55660
Blocks (Seattle)PRPF40A
PDB (SRS)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
PDB (PDBSum)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
PDB (IMB)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
PDB (RSDB)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
Structural Biology KnowledgeBase1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
SCOP (Structural Classification of Proteins)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
CATH (Classification of proteins structures)1UZC    1YWI    1YWJ    1ZR7    2CQN    2DYF    2KZG    2L5F    2L9V    2LKS   
SuperfamilyO75400
Human Protein AtlasENSG00000196504
Peptide AtlasO75400
IPIIPI00337385   IPI00337386   IPI00337387   IPI00915929   IPI01018784   IPI00909774   IPI01025484   IPI01018842   
Protein Interaction databases
DIP (DOE-UCLA)O75400
IntAct (EBI)O75400
FunCoupENSG00000196504
BioGRIDPRPF40A
STRING (EMBL)PRPF40A
ZODIACPRPF40A
Ontologies - Pathways
QuickGOO75400
Ontology : AmiGOmRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  protein binding  nucleoplasm  U1 snRNP  cytosol  cytoskeleton organization  cell cycle  regulation of cell shape  membrane  nuclear matrix  cell migration  nuclear speck  regulation of cytokinesis  cell division  proline-rich region binding  U2-type prespliceosome  
Ontology : EGO-EBImRNA splicing, via spliceosome  mRNA splicing, via spliceosome  RNA binding  RNA binding  protein binding  nucleoplasm  U1 snRNP  cytosol  cytoskeleton organization  cell cycle  regulation of cell shape  membrane  nuclear matrix  cell migration  nuclear speck  regulation of cytokinesis  cell division  proline-rich region binding  U2-type prespliceosome  
Pathways : KEGGSpliceosome   
NDEx NetworkPRPF40A
Atlas of Cancer Signalling NetworkPRPF40A
Wikipedia pathwaysPRPF40A
Orthology - Evolution
OrthoDB55660
GeneTree (enSembl)ENSG00000196504
Phylogenetic Trees/Animal Genes : TreeFamPRPF40A
HOVERGENO75400
HOGENOMO75400
Homologs : HomoloGenePRPF40A
Homology/Alignments : Family Browser (UCSC)PRPF40A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPF40A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPF40A
dbVarPRPF40A
ClinVarPRPF40A
1000_GenomesPRPF40A 
Exome Variant ServerPRPF40A
ExAC (Exome Aggregation Consortium)PRPF40A (select the gene name)
Genetic variants : HAPMAP55660
Genomic Variants (DGV)PRPF40A [DGVbeta]
DECIPHERPRPF40A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPF40A 
Mutations
ICGC Data PortalPRPF40A 
PRPF40A 
Broad Tumor PortalPRPF40A
OASIS PortalPRPF40A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPF40A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPF40A
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 PRPF40A
DgiDB (Drug Gene Interaction Database)PRPF40A
DoCM (Curated mutations)PRPF40A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPF40A (select a term)
intoGenPRPF40A
Cancer3DPRPF40A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612941   
Orphanet
MedgenPRPF40A
Genetic Testing Registry PRPF40A
NextProtO75400 [Medical]
TSGene55660
GENETestsPRPF40A
Target ValidationPRPF40A
Huge Navigator PRPF40A [HugePedia]
snp3D : Map Gene to Disease55660
BioCentury BCIQPRPF40A
ClinGenPRPF40A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55660
Chemical/Pharm GKB GenePA28195
Clinical trialPRPF40A
Miscellaneous
canSAR (ICR)PRPF40A (select the gene name)
Probes
Litterature
PubMed70 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPF40A
EVEXPRPF40A
GoPubMedPRPF40A
iHOPPRPF40A
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 13:35:21 CEST 2017

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