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BPESC1 (blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding))

Identity

Alias_namesblepharophimosis, epicanthus inversus and ptosis, candidate 1
Alias_symbol (synonym)NCRNA00187
Other alias
HGNC (Hugo) BPESC1
LocusID (NCBI) 60467
Atlas_Id 60790
Location 3q23  [Link to chromosome band 3q23]
Location_base_pair Starts at 139104185 and ends at 139125163 bp from pter ( according to hg38-Dec_2013)

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)BPESC1   13228
Cards
Entrez_Gene (NCBI)BPESC1  60467  blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding)
AliasesNCRNA00187
GeneCards (Weizmann)BPESC1
Ensembl hg19 (Hinxton)ENSG00000232416 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000232416 [Gene_View]  chr3:139104185-139125163 [Contig_View]  BPESC1 [Vega]
ICGC DataPortalENSG00000232416
TCGA cBioPortalBPESC1
AceView (NCBI)BPESC1
Genatlas (Paris)BPESC1
WikiGenes60467
SOURCE (Princeton)BPESC1
Genetics Home Reference (NIH)BPESC1
Genomic and cartography
GoldenPath hg38 (UCSC)BPESC1  -     chr3:139104185-139125163 +  3q23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BPESC1  -     3q23   [Description]    (hg19-Feb_2009)
EnsemblBPESC1 - 3q23 [CytoView hg19]  BPESC1 - 3q23 [CytoView hg38]
Mapping of homologs : NCBIBPESC1 [Mapview hg19]  BPESC1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF196865 BC119686 BC119687
RefSeq transcript (Entrez)NM_021812
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BPESC1
Cluster EST : UnigeneHs.512673 [ NCBI ]
CGAP (NCI)Hs.512673
Alternative Splicing GalleryENSG00000232416
Gene ExpressionBPESC1 [ NCBI-GEO ]   BPESC1 [ EBI - ARRAY_EXPRESS ]   BPESC1 [ SEEK ]   BPESC1 [ MEM ]
Gene Expression Viewer (FireBrowse)BPESC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60467
GTEX Portal (Tissue expression)BPESC1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9GZL8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9GZL8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9GZL8
Splice isoforms : SwissVarQ9GZL8
PhosPhoSitePlusQ9GZL8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BPESC1
DMDM Disease mutations60467
Blocks (Seattle)BPESC1
SuperfamilyQ9GZL8
Human Protein AtlasENSG00000232416
Peptide AtlasQ9GZL8
HPRD16559
IPIIPI00026310   
Protein Interaction databases
DIP (DOE-UCLA)Q9GZL8
IntAct (EBI)Q9GZL8
FunCoupENSG00000232416
BioGRIDBPESC1
STRING (EMBL)BPESC1
ZODIACBPESC1
Ontologies - Pathways
QuickGOQ9GZL8
Ontology : AmiGOmolecular_function  cellular_component  biological_process  
Ontology : EGO-EBImolecular_function  cellular_component  biological_process  
NDEx NetworkBPESC1
Atlas of Cancer Signalling NetworkBPESC1
Wikipedia pathwaysBPESC1
Orthology - Evolution
OrthoDB60467
GeneTree (enSembl)ENSG00000232416
Phylogenetic Trees/Animal Genes : TreeFamBPESC1
HOVERGENQ9GZL8
HOGENOMQ9GZL8
Homologs : HomoloGeneBPESC1
Homology/Alignments : Family Browser (UCSC)BPESC1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBPESC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BPESC1
dbVarBPESC1
ClinVarBPESC1
1000_GenomesBPESC1 
Exome Variant ServerBPESC1
ExAC (Exome Aggregation Consortium)BPESC1 (select the gene name)
Genetic variants : HAPMAP60467
Genomic Variants (DGV)BPESC1 [DGVbeta]
DECIPHERBPESC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBPESC1 
Mutations
ICGC Data PortalBPESC1 
TCGA Data PortalBPESC1 
Broad Tumor PortalBPESC1
OASIS PortalBPESC1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDBPESC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BPESC1
DgiDB (Drug Gene Interaction Database)BPESC1
DoCM (Curated mutations)BPESC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BPESC1 (select a term)
intoGenBPESC1
Cancer3DBPESC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenBPESC1
Genetic Testing Registry BPESC1
NextProtQ9GZL8 [Medical]
TSGene60467
GENETestsBPESC1
Target ValidationBPESC1
Huge Navigator BPESC1 [HugePedia]
snp3D : Map Gene to Disease60467
BioCentury BCIQBPESC1
ClinGenBPESC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60467
Chemical/Pharm GKB GenePA25400
Clinical trialBPESC1
Miscellaneous
canSAR (ICR)BPESC1 (select the gene name)
Probes
Litterature
PubMed3 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBPESC1
EVEXBPESC1
GoPubMedBPESC1
iHOPBPESC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:39:49 CEST 2017

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