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LOC111413021 HNF1 motif-containing MPRA enhancer 152 [ Homo sapiens (human) ]

Gene ID: 111413021, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413021
Gene description
HNF1 motif-containing MPRA enhancer 152
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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See LOC111413021 in Genome Data Viewer
Location:
2q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (207845355..207845499)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (208319579..208319723)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (208710079..208710223)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cyclin Y like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12284 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208631909-208632465 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208632466-208633023 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12285 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12286 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17045 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208635695-208636515 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:208636987-208637462 Neighboring gene microRNA 4775 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208647704-208648204 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208660472-208661457 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208661458-208662442 Neighboring gene frizzled class receptor 5 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208666419-208666920 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208666921-208667420 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:208675729-208676550 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17046 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17048 Neighboring gene pleckstrin homology domain containing M3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:208713897-208714396 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:208772908-208774107 Neighboring gene Sharpr-MPRA regulatory region 2767 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:208835249-208835782 Neighboring gene RNA, U6 small nuclear 360, pseudogene Neighboring gene ribosomal protein L9 pseudogene 14

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 152
  • massively parallel reporter assay enhancer 152

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_055853.1 

    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    207845355..207845499
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    208319579..208319723
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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