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LOC114803471 AMDHD1 eExon liver enhancer [ Homo sapiens (human) ]

Gene ID: 114803471, updated on 10-Oct-2023

Summary

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Gene symbol
LOC114803471
Gene description
AMDHD1 eExon liver enhancer
Gene type
biological region
Feature type(s)
regulatory: enhancer
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, which overlaps a protein-coding exon of the AMDHD1 (amidohydrolase domain containing 1) gene, was predicted to be an exonic enhancer (eExon) based on an enhancer-associated chromatin signature (H3K4me1, H3K27ac and p300) in liver. It was validated as a functional enhancer by reporter assays in HepG2 cells. This eExon was found to be associated with the FOXA1 and FOXA2 transcription factors by ChIP assays in human liver cells. [provided by RefSeq, Apr 2019]
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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 (95966152..95966636)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (95940150..95940634)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (96359930..96360414)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:96252439-96253054 Neighboring gene small nuclear ribonucleoprotein polypeptide F Neighboring gene coiled-coil domain containing 38 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:96301545-96302055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:96302056-96302565 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:96322471-96322972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:96350128-96350641 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:96350642-96351154 Neighboring gene amidohydrolase domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:96363883-96364528 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:96364529-96365174 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31139 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 12:96379806 Neighboring gene histidine ammonia-lyase Neighboring gene uncharacterized LOC102723340 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31163 Neighboring gene Sharpr-MPRA regulatory region 10760 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6820 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31173 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_31174 Neighboring gene leukotriene A4 hydrolase

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 coding exons at single nucleotide resolution supports an additional role in cell-specific transcriptional regulation. Birnbaum RY, et al. PLoS Genet, 2014 Oct. PMID 25340400, Free PMC Article
  2. Exonic enhancers: proceed with caution in exome and genome sequencing studies. Ahituv N. Genome Med, 2016 Feb 8. PMID 26856702, 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

  • enhancer exon of AMDHD1

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_064647.1 

    Range
    101..585
    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
    95966152..95966636
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    95940150..95940634
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    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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