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LOC125316802 CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:74597314-74598513 [ Homo sapiens (human) ]

Gene ID: 125316802, updated on 12-Sep-2024

Summary

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Gene symbol
LOC125316802
Gene description
CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:74597314-74598513
Gene type
biological region
Feature type(s)
regulatory: enhancer, silencer
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. The major 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. Two subregions marked by the H3K27ac and H3K4me1 histone modifications were also shown to be active enhancers by ChIP-STARR-seq in naive human embryonic stem cells. An overlapping subregion was also validated as a functional repressive element by Sharpr-MPRA (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in K562 erythroleukemia cells (group: K562 Repressive DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Nov 2022]
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Genomic context

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See LOC125316802 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (76601087..76602852)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (77497799..77499572)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (74597169..74598934)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74562840-74563340 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:74563341-74563841 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 Neighboring gene small nucleolar RNA, C/D box 1A Neighboring gene testis-specific serine/proline-rich protein Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74565599-74566100 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9022 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582247-74582928 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74582929-74583609 Neighboring gene NANOG hESC enhancer GRCh37_chr17:74602073-74602593 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:74607181-74607687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74608196-74608702 Neighboring gene ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:74623019-74623520 Neighboring gene prothymosin alpha pseudogene 13

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

  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74597840-74598387
  • H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:74598388-74598934
  • Sharpr-MPRA regulatory region 4376

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_080621.3 

    Range
    101..1866
    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    76601087..76602852
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    77497799..77499572
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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