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LOC108348026 ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer [ Homo sapiens (human) ]

Gene ID: 108348026, updated on 10-Oct-2023

Summary

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Gene symbol
LOC108348026
Gene description
ATP6V1G1P1-IGHD intergenic CAGE-defined B cell enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This genomic element is located in the intergenic region between the ATP6V1G1P1 (ATPase H+ transporting V1 subunit G1 pseudogene 1) and IGHD (immunoglobulin heavy constant delta) loci. It was defined as a tissue-specific transcribed enhancer based on the co-occurrence of H3K4me1, H3K27ac and DNase hypersensitive epigenetic marks with the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE) in B cells. It was validated as a functional enhancer by reporter assays in DAUDI B cells, and it also had some enhancer activity in Jurkat T cells and THP-1 monocytes. [provided by RefSeq, Jul 2016]
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Genomic context

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See LOC108348026 in Genome Data Viewer
Location:
14q32.33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (105817626..105818834)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (100089090..100090298)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (106283959..106285167)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene immunoglobulin heavy locus Neighboring gene uncharacterized LOC105378184 Neighboring gene MPRA-validated peak2261 silencer Neighboring gene ATPase H+ transporting V1 subunit G1 pseudogene 1 Neighboring gene immunoglobulin heavy constant gamma 3 (G3m marker) Neighboring gene immunoglobulin heavy constant delta Neighboring gene immunoglobulin heavy constant mu

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. An atlas of active enhancers across human cell types and tissues. Andersson R, et al. Nature, 2014 Mar 27. PMID 24670763, Free PMC Article

GeneRIFs: Gene References Into Functions

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 Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • ATP6V1G1P1-IGHD interval FANTOM5 blood enhancer

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.

Genomic

  1. NG_051179.1 

    Range
    101..1309
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    GenBank, FASTA, Sequence Viewer (Graphics)

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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    105817626..105818834
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    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187600.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    285395..286603
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    100089090..100090298
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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