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LOC110366355 enhancer in intron 10 of CYP3A4 [ Homo sapiens (human) ]

Gene ID: 110366355, updated on 17-Sep-2024

Summary

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Gene symbol
LOC110366355
Gene description
enhancer in intron 10 of CYP3A4
Gene type
biological region
Feature type(s)
misc_feature: conserved_region
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 region represents an intronic enhancer of cytochrome P450 family 3 subfamily A member 4 (CYP3A4). This enhancer contains a conserved region with a human single nucleotide polymorphic site (rs2242480) that affects enhancer activity and is associated with differences in drug metabolism. [provided by RefSeq, May 2017]
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Genomic context

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See LOC110366355 in Genome Data Viewer
Location:
chromosome: 7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (99763631..99763911)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (101003143..101003423)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (99361254..99361534)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zinc finger and SCAN domain containing 25 Neighboring gene CYP3A7-CYP3A51P readthrough Neighboring gene cytochrome P450 family 3 subfamily A member 7 Neighboring gene CYP3A7 5' regulatory region Neighboring gene cytochrome P450, family 3, subfamily A, polypeptide 5 pseudogene 2 Neighboring gene cytochrome P450 family 3 subfamily A member 4 Neighboring gene CYP3A4 5' regulatory region Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99406501-99407104 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:99407105-99407707 Neighboring gene cytochrome P450 family 3 subfamily A member 137, pseudogene Neighboring gene cytochrome P450 family 3 subfamily A member 43 Neighboring gene MPRA-validated peak6657 silencer

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. CYP3A4*1G regulates CYP3A4 intron 10 enhancer and promoter activity in an allelic-dependent manner. Yang W, et al. Int J Clin Pharmacol Ther, 2015 Aug. PMID 25997547
  2. A functional polymorphism in the CYP3A4 gene is associated with increased risk of coronary heart disease in the Chinese Han population. He BX, et al. Basic Clin Pharmacol Toxicol, 2011 Mar. PMID 21199372
  3. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

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)

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_054907.1 

    Range
    101..381
    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    99763631..99763911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    101003143..101003423
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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