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LOC121740704 Sharpr-MPRA regulatory region 12172 [ Homo sapiens (human) ]

Gene ID: 121740704, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121740704
Gene description
Sharpr-MPRA regulatory region 12172
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 sequence was predicted to be a transcriptional regulatory region based on chromatin state analysis from the ENCODE (ENCyclopedia Of DNA Elements) project. It was validated as a functional enhancer by the Sharpr-MPRA technique (Systematic high-resolution activation and repression profiling with reporter tiling using massively parallel reporter assays) in HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jun 2021]
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Genomic context

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Location:
7q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (151081822..151082116)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (152254940..152255234)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (150778909..150779203)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC128092247 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150762350-150763332 Neighboring gene solute carrier family 4 member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150766873-150767373 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150772333-150773310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150773311-150774286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150774287-150775262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150776239-150777215 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150777216-150778191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18797 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18798 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18799 Neighboring gene Fas activated serine/threonine kinase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18800 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26851 Neighboring gene uncharacterized LOC124901778 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150786615-150787125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787126-150787635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150787761-150788266 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150788267-150788772 Neighboring gene transmembrane and ubiquitin like domain containing 1 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150800613-150801520 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:150805265-150805927 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18801 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150828941-150829442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150829443-150829942 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150833002-150833976 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150834950-150835923 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr7:150835924-150836896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:150840191-150841150 Neighboring gene gastrulation brain homeobox 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. Genome-scale high-resolution mapping of activating and repressive nucleotides in regulatory regions. Ernst J, et al. Nat Biotechnol, 2016 Nov. PMID 27701403, 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)

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_075766.1 

    Range
    101..395
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    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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    151081822..151082116
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    152254940..152255234
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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