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LOC111413036 GATA motif-containing MPRA enhancer 175 [ Homo sapiens (human) ]

Gene ID: 111413036, updated on 10-Oct-2023

Summary

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Gene symbol
LOC111413036
Gene description
GATA motif-containing MPRA enhancer 175
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 K562 erythroleukemia cells. This enhancer contains a conserved motif for a GATA 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:
9q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (98332674..98332818)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (110504615..110504759)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (101094956..101095100)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene Neighboring gene TBC1 domain family member 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101010111-101011028 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101011029-101011945 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20119 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28695 Neighboring gene microRNA 6854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28696 Neighboring gene MPRA-validated peak7303 silencer Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr9:101036136-101036669 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101036702-101037236 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101037237-101037769 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101042021-101042706 Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene Sharpr-MPRA regulatory region 5055 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101122073-101122573 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:101134501-101135189 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28697 Neighboring gene Sharpr-MPRA regulatory region 1904 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:101151090-101151268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101158435-101159110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101159111-101159786 Neighboring gene NANOG hESC enhancer GRCh37_chr9:101164028-101164529 Neighboring gene MPRA-validated peak7304 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:101257622-101258821 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101270847-101271377 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:101328229-101328729 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28698 Neighboring gene Sharpr-MPRA regulatory region 14650 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:101372736-101373728 Neighboring gene septin 7 pseudogene 7 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:101430118-101430303 Neighboring gene uncharacterized LOC124902228

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

  • GATA activator MPRA enhancer 175
  • massively parallel reporter assay enhancer 175

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_055866.1 

    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    98332674..98332818
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    110504615..110504759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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