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Aliases for BPESC1 Gene

Subcategory (RNA class) for BPESC1 Gene

lncRNA

Quality Score for this RNA gene is

3

Aliases for BPESC1 Gene

  • Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 (Non-Protein Coding) 2 3
  • Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 2
  • Non-Protein Coding RNA 187 2
  • BPES Candidate 1 4
  • NCRNA00187 3

External Ids for BPESC1 Gene

ORGUL Members for BPESC1 Gene

Summaries for BPESC1 Gene

GeneCards Summary for BPESC1 Gene

BPESC1 (Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 (Non-Protein Coding)) is a RNA Gene, and belongs to lncRNA RNA class.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BPESC1 Gene

Genomics for BPESC1 Gene

Genomic Location for BPESC1 Gene

Start:
139,104,185 bp from pter
End:
139,125,171 bp from pter
Size:
20,987 bases
Orientation:
Plus strand

Genomic View for BPESC1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BPESC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BPESC1 Gene

No data available for Regulatory Elements for BPESC1 Gene

Proteins for BPESC1 Gene

  • Protein details for BPESC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9GZL8-BPEC1_HUMAN
    Recommended name:
    Putative BPES syndrome breakpoint region protein
    Protein Accession:
    Q9GZL8
    Secondary Accessions:
    • Q0VDG2

    Protein attributes for BPESC1 Gene

    Size:
    116 amino acids
    Molecular mass:
    12676 Da
    Quaternary structure:
    No Data Available

neXtProt entry for BPESC1 Gene

Proteomics data for BPESC1 Gene at MOPED

Post-translational modifications for BPESC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for BPESC1 Gene

Domains for BPESC1 Gene

Protein Domains for BPESC1 Gene

ProtoNet:
genes like me logo Genes that share domains with BPESC1: view

No data available for Gene Families and UniProtKB/Swiss-Prot for BPESC1 Gene

Function for BPESC1 Gene

Gene Ontology (GO) - Molecular Function for BPESC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with BPESC1: view

Phenotypes for BPESC1 Gene

GenomeRNAi human phenotypes for BPESC1:
genes like me logo Genes that share phenotypes with BPESC1: view

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for BPESC1 Gene

Localization for BPESC1 Gene

Gene Ontology (GO) - Cellular Components for BPESC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with BPESC1: view

Pathways for BPESC1 Gene

SuperPathways for BPESC1 Gene

No Data Available

Interacting Proteins for BPESC1 Gene

Gene Ontology (GO) - Biological Process for BPESC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with BPESC1: view

No data available for Pathways by source for BPESC1 Gene

Transcripts for BPESC1 Gene

mRNA/cDNA for BPESC1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for BPESC1 Gene

Blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for BPESC1 Gene

No ASD Table

Relevant External Links for BPESC1 Gene

GeneLoc Exon Structure for
BPESC1
ECgene alternative splicing isoforms for
BPESC1

Expression for BPESC1 Gene

mRNA expression in normal human tissues for BPESC1 Gene

mRNA differential expression in normal tissues according to GTEx for BPESC1 Gene

This gene is overexpressed in Testis (29.3), Fallopian Tube (6.3), and Ovary (4.2).

SOURCE GeneReport for Unigene cluster for BPESC1 Gene Hs.512673

mRNA Expression by UniProt/SwissProt for BPESC1 Gene

Q9GZL8-BPEC1_HUMAN
Tissue specificity: Seems to be expressed only in testis
genes like me logo Genes that share expressions with BPESC1: view

Orthologs for BPESC1 Gene

Evolution for BPESC1 Gene

ENSEMBL:
Gene Tree for BPESC1 (if available)
TreeFam:
Gene Tree for BPESC1 (if available)

No data available for Orthologs for BPESC1 Gene

Paralogs for BPESC1 Gene

No data available for Paralogs for BPESC1 Gene

Variants for BPESC1 Gene

Sequence variations from dbSNP and Humsavar for BPESC1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs581530 -- 139,107,050(-) TATGG(A/C)CTGTC intron-variant
rs583472 -- 139,113,170(-) TGGAG(C/T)TGCCA intron-variant
rs584059 -- 139,112,244(-) AGAAG(A/C)CTTGG intron-variant
rs586043 -- 139,112,656(-) CATAT(A/G)TAAGT intron-variant
rs586611 -- 139,112,496(-) ACCAA(C/T)CAACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BPESC1 Gene

Variant ID Type Subtype PubMed ID
nsv829736 CNV Gain 17160897
esv1587056 CNV Insertion 17803354
esv2663804 CNV Deletion 23128226

Relevant External Links for BPESC1 Gene

HapMap Linkage Disequilibrium report
BPESC1

Disorders for BPESC1 Gene

Relevant External Links for BPESC1

Genetic Association Database (GAD)
BPESC1
genes like me logo Genes that share disorders with BPESC1: view

No data available for UniProtKB/Swiss-Prot for BPESC1 Gene

Publications for BPESC1 Gene

  1. Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. (PMID: 10995571) De Baere E. … Messiaen L. (Genomics 2000) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. (PMID: 22013104) Melka M.G. … Pausova Z. (J. Clin. Endocrinol. Metab. 2012) 49
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for BPESC1 Gene

  • QIAGEN qRT-PCR Assays for microRNAs that regulate BPESC1
    • QuantiTect SYBR Green Assays in human,mouse,rat
    • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
    • QuantiFast Probe-based Assays in human,mouse,rat
    • Predesigned siRNA for gene silencing in human,mouse,rat for BPESC1
    • Block miRNA regulation of BPESC1 using miScript Target Protectors

    Sources for BPESC1 Gene

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