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BHLHE40-AS1 BHLHE40 antisense RNA 1 [ Homo sapiens (human) ]

Gene ID: 100507582, updated on 10-Oct-2023

Summary

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Official Symbol
BHLHE40-AS1provided by HGNC
Official Full Name
BHLHE40 antisense RNA 1provided by HGNC
Primary source
HGNC:HGNC:44471
See related
Ensembl:ENSG00000235831 AllianceGenome:HGNC:44471
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Ubiquitous expression in kidney (RPKM 3.4), adrenal (RPKM 3.3) and 25 other tissues See more
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Genomic context

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Location:
3p26.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (4896809..4979961, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (4890629..4973743, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (4938493..5021646, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene inositol 1,4,5-trisphosphate receptor type 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19354 Neighboring gene Sharpr-MPRA regulatory region 7157 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19355 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:4824730-4825689 Neighboring gene eosinophil granule ontogeny transcript Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958 Neighboring gene uncharacterized LOC124906209 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:4859780-4860166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:4866229-4866729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14019 Neighboring gene small nucleolar RNA U13 Neighboring gene NANOG hESC enhancer GRCh37_chr3:4947837-4948542 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:4958477-4959105 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:4987703-4987867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19362 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14021 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:5021511-5022105 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19366 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5024435-5024994 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5024995-5025554 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19368 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19370 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5027373-5028270 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5028271-5029168 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:5030786-5031286 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:5036716-5037915 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:5043965-5044466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19371 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19373 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5054312-5055114 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:5055115-5055916 Neighboring gene basic helix-loop-helix family member e40 Neighboring gene CRISPRi-validated cis-regulatory element chr3.91 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:5064405-5065604 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:5073333-5073834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19375 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:5119481-5119626 Neighboring gene ring finger protein 10 pseudogene 1 Neighboring gene UBTF like 8 (pseudogene)

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. Long noncoding RNA BHLHE40-AS1 promotes early breast cancer progression through modulating IL-6/STAT3 signaling. DeVaux RS, et al. J Cell Biochem, 2020 Jul. PMID 31907974, Free PMC Article
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Long noncoding RNA BHLHE40-AS1 promotes early breast cancer progression through modulating IL-6/STAT3 signaling.
    Title: Long noncoding RNA BHLHE40-AS1 promotes early breast cancer progression through modulating IL-6/STAT3 signaling.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Clone Names

  • AC018816.4

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of signal recognition particle, endoplasmic reticulum targeting IEA
Inferred from Electronic Annotation
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_037903.3 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript.
    Source sequence(s)
    AC018816, AK056892, AK311646, KF573690
    Related
    ENST00000441386.3

  2. NR_125914.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains an alternate 5' terminal exon, resulting in a shorter transcript compared to variant 1.
    Source sequence(s)
    AC018816, AK311159
    Related
    ENST00000701363.1

  3. NR_125915.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate internal exon and uses an alternate splice site in the 3' terminal exon, resulting in a shorter transcript compared to variant 1.
    Source sequence(s)
    AC018816, AK056892
    Related
    ENST00000620618.4

  4. NR_125916.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 3' terminal exon, resulting in a shorter transcript compared to variant 1.
    Source sequence(s)
    AC018816, AK056892, DA948054, KF573690
    Related
    ENST00000615178.4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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
    4896809..4979961 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    4890629..4973743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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Molecular Biology Databases