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LOC111365211 HNF1 motif-containing MPRA enhancer 99 [ Homo sapiens (human) ]

Gene ID: 111365211, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111365211
Gene description
HNF1 motif-containing MPRA enhancer 99
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:
1p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (116475260..116475404)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (116485682..116485826)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (117017882..117018026)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1229 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1230 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1559 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1560 Neighboring gene ATPase Na+/K+ transporting subunit alpha 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1561 Neighboring gene ATP1A1 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr1:116958386-116958887 Neighboring gene Sharpr-MPRA regulatory region 13778 Neighboring gene RNA, U6 small nuclear 817, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116968695-116969196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:116969197-116969696 Neighboring gene long intergenic non-protein coding RNA 1762 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:116985590-116985791 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:117013937-117014172 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:117020893-117021452 Neighboring gene uncharacterized LOC112268235 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:117025970-117026470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1562 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8038 Neighboring gene Sharpr-MPRA regulatory region 12485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1564 Neighboring gene CD58 molecule Neighboring gene nucleosome assembly protein 1 like 4 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

  • HNF1 activator MPRA enhancer 99
  • massively parallel reporter assay enhancer 99

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_055825.1 

    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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    116475260..116475404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    116485682..116485826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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