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LOC111429615 HNF4 motif-containing MPRA enhancer 213 [ Homo sapiens (human) ]

Gene ID: 111429615, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111429615
Gene description
HNF4 motif-containing MPRA enhancer 213
Gene type
biological region
Feature type(s)
regulatory: enhancer, transcriptional_cis_regulatory_region
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 was predicted to be a cell type-specific enhancer based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by high-throughput massively parallel reporter assays (MPRAs) in liver carcinoma HepG2 cells. This enhancer contains a conserved motif for the HNF4 activator. Mutation of this motif results in reduced enhancer activity. [provided by RefSeq, Nov 2017]
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Genomic context

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See LOC111429615 in Genome Data Viewer
Location:
6p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (3410659..3410803)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (3279442..3279586)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (3410893..3411037)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3232034-3232816 Neighboring gene uncharacterized LOC100422781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3238669-3239168 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3247329-3247894 Neighboring gene Sharpr-MPRA regulatory region 12113 Neighboring gene Sharpr-MPRA regulatory region 12515 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16852 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16851 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16850 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23887 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266017-3266518 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3266519-3267018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23888 Neighboring gene Sharpr-MPRA regulatory region 5686 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3282752-3283679 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3287161-3287690 Neighboring gene solute carrier family 22 member 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3296939-3297439 Neighboring gene proteasome assembly chaperone 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3310226-3311075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3322296-3322796 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:3324264-3325463 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:3341422-3342145 Neighboring gene VISTA enhancer hs1391 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3356377-3357267 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364999-3365499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3364498-3364998 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3370733-3371253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23890 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:3410001-3410221 Neighboring gene uncharacterized LOC105374890 Neighboring gene Sharpr-MPRA regulatory region 2334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3413621-3414120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3415185-3415686 Neighboring gene Sharpr-MPRA regulatory region 10234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3427759-3428672 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23891 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23892 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446963-3447509 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:3446415-3446962 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16854 Neighboring gene Sharpr-MPRA regulatory region 3383 Neighboring gene uncharacterized LOC643327 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:3490051-3490550 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:3511328-3512180 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3540364-3540864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3563205-3563704 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3568820-3569322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3579367-3580278 Neighboring gene uncharacterized LOC100507336 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:3603461-3603960 Neighboring gene TOMM5 pseudogene 1

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. Systematic dissection of regulatory motifs in 2000 predicted human enhancers using a massively parallel reporter assay. Kheradpour P, et al. Genome Res, 2013 May. PMID 23512712, Free PMC Article
  2. Mapping and analysis of chromatin state dynamics in nine human cell types. Ernst J, et al. Nature, 2011 May 5. PMID 21441907, 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

  • HNF4 activator MPRA enhancer 213
  • massively parallel reporter assay enhancer 213

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_055892.1 

    Range
    101..245
    Download
    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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    3410659..3410803
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    3279442..3279586
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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