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BPESC1 blepharophimosis, epicanthus inversus and ptosis candidate 1 [ Homo sapiens (human) ]

Gene ID: 60467, updated on 13-May-2022

Summary

Official Symbol
BPESC1provided by HGNC
Official Full Name
blepharophimosis, epicanthus inversus and ptosis candidate 1provided by HGNC
Primary source
HGNC:HGNC:13228
See related
Ensembl:ENSG00000232416 MIM:618995; AllianceGenome:HGNC:13228
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NCRNA00187
Expression
Low expression observed in reference dataset See more
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Genomic context

See BPESC1 in Genome Data Viewer
Location:
3q23
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (139104185..139125167)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141845219..141866646)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138823027..138844009)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene proline rich 23C Neighboring gene ribosomal protein L7 like 1 pseudogene 7 Neighboring gene PISRT1 lncRNA Neighboring gene uncharacterized LOC124906290

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

General gene information

Markers

Other Names

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
 

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_026783.3 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC069525, KF459861, KF459862
    Related
    ENST00000418282.2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    139104185..139125167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141845219..141866646
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_021812.1: Suppressed sequence

    Description
    NM_021812.1: This RefSeq was permanently suppressed because currently there is no support for the transcript and the protein.