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LOC111465010 HNF1 motif-containing MPRA enhancer 253 [ Homo sapiens (human) ]

Gene ID: 111465010, updated on 17-Sep-2024

Summary

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Gene symbol
LOC111465010
Gene description
HNF1 motif-containing MPRA enhancer 253
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 LOC111465010 in Genome Data Viewer
Location:
4p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (40418585..40418729)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (40392258..40392402)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40420602..40420746)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene cholinergic receptor nicotinic alpha 9 subunit Neighboring gene RNA, U7 small nuclear 74 pseudogene Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:40427439-40428638 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21490 Neighboring gene RNA binding motif protein 47 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:40485009-40485545 Neighboring gene ribosomal protein L37 pseudogene 14 Neighboring gene microRNA 4802

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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 253
  • massively parallel reporter assay enhancer 253

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_055916.1 

    Range
    101..245
    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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    40418585..40418729
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    40392258..40392402
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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