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LOC112695105 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46034441-46035640 [ Homo sapiens (human) ]

Gene ID: 112695105, updated on 10-Dec-2024

Summary

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Gene symbol
LOC112695105
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:46034441-46035640
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 2 enhancer that depends on the BRD2, BRD4, P300/CBP, MED14 and CDK7 cofactors, with strong dependence on CDK7. A subregion was also validated as an enhancer by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 8:EnhW, candidate weak enhancer and open chromatin). Another subregion was also validated as an enhancer by ChIP-STARR-seq in primed human embryonic stem cells, where it is marked by the H3K4me1 histone modification. [provided by RefSeq, Jan 2023]
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Genomic context

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See LOC112695105 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (45638561..45640158)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (46123296..46124893)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (46034441..46036038)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1589 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:46021696-46022895 Neighboring gene Sharpr-MPRA regulatory region 3085 Neighboring gene RNA, U6 small nuclear 1161, pseudogene Neighboring gene uncharacterized LOC105373069 Neighboring gene uncharacterized LOC105373067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13882 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13883 Neighboring gene uncharacterized LOC105373068 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46044567-46045067 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13884 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13885 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13886 Neighboring gene ataxin 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19229 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:46145933-46146130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:46153547-46154545 Neighboring gene microRNA 4762

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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, Free PMC Article
  3. 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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

  • H3K4me1 hESC enhancer GRCh37_chr22:46035267-46036038
  • Sharpr-MPRA regulatory region 12951

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_060883.3 

    Range
    101..1698
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    45638561..45640158
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    46123296..46124893
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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