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LOC111429608 HNF1 motif-containing MPRA enhancer 206 [ Homo sapiens (human) ]

Gene ID: 111429608, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111429608
Gene description
HNF1 motif-containing MPRA enhancer 206
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 HNF1 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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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (109737779..109737923)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109713244..109713388)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110175584..110175728)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110010699-110011200 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110011201-110011700 Neighboring gene metabolism of cobalamin associated B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110036333-110037022 Neighboring gene mevalonate kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110049030-110049530 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110105927-110106096 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110108888-110110087 Neighboring gene RN7SK pseudogene 250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110133637-110134446 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110150092-110150655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4843 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110164162-110164872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110169301-110169801 Neighboring gene family with sequence similarity 222 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110174581-110175080 Neighboring gene FAM222A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177165-110177666 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110177667-110178166 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110209881-110210380 Neighboring gene Sharpr-MPRA regulatory region 11384 Neighboring gene transient receptor potential cation channel subfamily V member 4 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110258983-110259483 Neighboring gene uncharacterized LOC105369975 Neighboring gene microRNA 4497

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

  • HNF1 activator MPRA enhancer 206
  • massively parallel reporter assay enhancer 206

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_055886.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    109737779..109737923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    109713244..109713388
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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