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LOC126863164 BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283 [ Homo sapiens (human) ]

Gene ID: 126863164, updated on 10-Oct-2023

Summary

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Gene symbol
LOC126863164
Gene description
BRD4-independent group 4 enhancer GRCh37_chr22:45264084-45265283
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 region includes enhancers that were validated by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay. The major subregion had activity in HCT116 colorectal carcinoma cells, where it was defined as a group 4 enhancer that depends on the BRD2, P300/CBP, MED14 and CDK7 cofactors, but it has limited or no dependence on the BRD4 bromodomain protein. Two subregions were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells, where both are marked by the H3K4me1 histone modification and one is additionally marked by H3K27ac. [provided by RefSeq, Nov 2022]
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Genomic context

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Location:
chromosome: 22
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (44867336..44869403)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (45350855..45352922)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45075286-45076182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45079991-45080530 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45081707-45082207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45095169-45095709 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13869 Neighboring gene PRR5-ARHGAP8 readthrough Neighboring gene proline rich 5 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45102723-45103498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45105554-45106385 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45110087-45110588 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45118011-45118847 Neighboring gene Sharpr-MPRA regulatory region 7347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45120565-45121066 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45131503-45132091 Neighboring gene Rho GTPase activating protein 8 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:45175450-45175950 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45178826-45179382 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45181768-45182308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45182309-45182849 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45196797-45197331 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202373-45202928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45202929-45203484 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45211671-45212299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45232905-45233406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45237719-45238416 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45255234-45255928 Neighboring gene uncharacterized LOC105373062 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45259453-45260206 Neighboring gene uncharacterized LOC124905133 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45265953-45266864 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45283652-45284216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45286475-45286976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45290290-45291254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45291255-45292218 Neighboring gene PHD finger protein 21B Neighboring gene ribosomal protein L6 pseudogene 28 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45328117-45328618 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45334716-45335643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45338425-45339352 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45340279-45341206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45348327-45349097 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45349098-45349867 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19214 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19215 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19216 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45352179-45352948 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45355867-45356450 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45359222-45359844 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45359845-45360468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45360469-45361090 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45361091-45361714 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45361715-45362336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45362337-45362959 Neighboring gene Sharpr-MPRA regulatory region 3533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45375229-45375808 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45377983-45378603 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45387215-45388036 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:45390633-45391132 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45395779-45396638 Neighboring gene uncharacterized LOC101927551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45398138-45398996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45398997-45399855

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. Differential cofactor dependencies define distinct types of human enhancers. Neumayr C, et al. Nature, 2022 Jun. PMID 35650434, Free PMC Article
  2. Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells. Barakat TS, et al. Cell Stem Cell, 2018 Aug 2. PMID 30033119, 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

General gene information

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Other Names

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:45264129-45265040
  • H3K4me1 hESC enhancer GRCh37_chr22:45263216-45264128

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_087660.2 

    Range
    101..2168
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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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    44867336..44869403
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    45350855..45352922
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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