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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 Epicanthus.

Additional gene information for BPESC1 Gene

No data available for Entrez Gene Summary , CIViC 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

GeneHancer (GH) Regulatory Elements for BPESC1 Gene

Promoters and enhancers for BPESC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I139118 Enhancer 1.3 FANTOM5 Ensembl ENCODE 6.9 +16.7 16661 4.3 ATF1 PKNOX1 FOXA2 YY1 TCF12 ZNF766 GATA2 ATF7 REST NFIL3 BPESC1 ARMC8 GC03M139047 MRPS22
GH03I139111 Enhancer 0.7 ENCODE 4.5 +7.8 7839 0.1 BCOR CTCF RB1 MAX BACH1 RAD21 CC2D1A ZFHX2 CTBP1 EGR1 BPESC1 GC03M139047 MRPS22
GH03I139117 Enhancer 0.8 Ensembl ENCODE 0.4 +13.1 13119 0.2 SMARCE1 SMARCA5 RFX1 ZSCAN4 CEBPG DPF2 JUND GATA3 EGR1 FOS BPESC1 GC03M139047 MRPS22
GH03I139127 Enhancer 0.7 ENCODE 0.3 +23.2 23159 0.3 HDAC1 KLF1 TEAD4 TAL1 FOSL1 TCF12 GATA3 CTBP1 GATA2 CBFA2T2 GC03M139047 BPESC1 MRPS22
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BPESC1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BPESC1 Gene

Genomic Locations for BPESC1 Gene
chr3:139,104,185-139,125,171
(GRCh38/hg38)
Size:
20,987 bases
Orientation:
Plus strand
chr3:138,823,027-138,844,009
(GRCh37/hg19)

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

Phenotypes From GWAS Catalog 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

Inhibitory RNA 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 , Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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

Drugs & Compounds for BPESC1 Gene

No Compound Related Data Available

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:

Inhibitory RNA Products

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 CGAP 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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 Variation AA Info Type
rs1000090148 -- 139,123,939(+) C/T intron_variant
rs1000255387 -- 139,119,503(+) G/A/C intron_variant
rs1000309272 -- 139,119,972(+) A/G intron_variant
rs1000428981 -- 139,110,251(+) G/A intron_variant
rs1000493648 -- 139,124,842(+) A/T non_coding_transcript_variant

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

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

Additional Variant Information 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

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

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

Additional Disease Information for 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 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Genome-wide scan for loci of adolescent obesity and their relationship with blood pressure. (PMID: 22013104) Melka MG … Pausova Z (The Journal of clinical endocrinology and metabolism 2012) 44 58
  4. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny DM … Gibbs RA (Nature 2006) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for BPESC1 Gene

Sources for BPESC1 Gene

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