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Aliases for BPESC1 Gene

Subcategory (RNA class) for BPESC1 Gene

non-coding RNA

Quality Score for this RNA gene is

3

Aliases for BPESC1 Gene

  • Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 (Non-Protein Coding) 2 3 5
  • 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

Previous GeneCards Identifiers for BPESC1 Gene

  • GC03P135716
  • GC03P139679
  • GC03P140104
  • GC03P140143
  • GC03P140305
  • GC03U901049
  • GC03P138823
  • GC03P136198

Summaries for BPESC1 Gene

GeneCards Summary for BPESC1 Gene

BPESC1 (Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 (Non-Protein Coding)) is an RNA Gene, and is affiliated with the non-coding RNA class. Diseases associated with BPESC1 include Blepharophimosis and Ptosis.

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

Regulatory Elements for BPESC1 Gene

Enhancers for BPESC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F139118 1.5 FANTOM5 Ensembl ENCODE 6.9 +16.7 16661 4.3 HDAC1 PKNOX1 ATF1 TBL1XR1 RARA YY1 GATA2 CREM CEBPB ZEB2 BPESC1 ARMC8 GC03M139047
GH03F139111 0.7 ENCODE 4.5 +7.8 7839 0.1 BCOR CTCF ZNF654 BHLHE40 MAX REST RAD21 ZFHX2 ADNP SMC3 BPESC1 GC03M139047
GH03F139117 0.8 Ensembl ENCODE 0.4 +13.0 13020 0.4 RFX1 JUND MLLT1 ZBTB33 ZBTB8A FOS BPESC1 GC03M139047
GH03F139127 0.8 ENCODE 0.3 +23.2 23159 0.3 TBP HDAC1 KLF1 ESRRA TAL1 KMT2B TEAD3 GATA3 GATA2 HES1 GC03M139047 BPESC1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BPESC1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BPESC1 Gene

Chromosome:
3
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

Genes around BPESC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BPESC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BPESC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for BPESC1 Gene

No Post-translational modifications

No data available for DME Specific Peptides for BPESC1 Gene

Domains & Families for BPESC1 Gene

Gene Families for BPESC1 Gene

Protein Domains for BPESC1 Gene

ProtoNet:

Suggested Antigen Peptide Sequences for BPESC1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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
genes like me logo Genes that share phenotypes with BPESC1: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for BPESC1 Gene

Pathways & Interactions for BPESC1 Gene

SuperPathways for BPESC1 Gene

No Data Available

Interacting Proteins for BPESC1 Gene

Selected Interacting proteins: Q9GZL8-BPEC1_HUMAN for BPESC1 Gene via IID

Symbol External ID(s) Details
KREMEN1
MEGF8

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 and SIGNOR curated interactions for BPESC1 Gene

Transcripts for BPESC1 Gene

mRNA/cDNA for BPESC1 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) 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 from GTEx, Illumina, BioGPS, and SAGE for BPESC1 Gene

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

This gene is overexpressed in Testis (x29.3), Fallopian Tube (x6.3), and Ovary (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of BPESC1 Gene:

BPESC1

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 expression patterns with BPESC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for BPESC1 Gene

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
rs10513056 -- 139,113,018(+) TTTTA(C/T)TGTGT intron-variant
rs1081429 -- 139,116,405(+) acata(C/G)acaca intron-variant
rs1088302 -- 139,115,949(+) atata(A/T)tatat intron-variant
rs1092309 -- 139,116,207(+) aatat(A/G)taata intron-variant
rs1092455 -- 139,116,442(+) tttct(A/T)tcttt intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829736 CNV gain 17160897
nsv1110950 OTHER inversion 24896259
nsv1073683 CNV deletion 25765185
esv3597930 CNV loss 21293372
esv2663804 CNV deletion 23128226
esv1587056 CNV insertion 17803354

Relevant External Links for BPESC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BPESC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for BPESC1 Gene

Disorders for BPESC1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BPESC1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
blepharophimosis
  • blepharophimosis syndrome
ptosis
  • blepharoptosis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for BPESC1

Genetic Association Database (GAD)
BPESC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BPESC1
genes like me logo Genes that share disorders with BPESC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 64
  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 64
  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) 46 64
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4 64
  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 64

Products for BPESC1 Gene

Sources for BPESC1 Gene

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