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LOC121331321 Sharpr-MPRA regulatory region 12241 [ Homo sapiens (human) ]

Gene ID: 121331321, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121331321
Gene description
Sharpr-MPRA regulatory region 12241
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 K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2021]
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Genomic context

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See LOC121331321 in Genome Data Viewer
Location:
9p
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (19123991..19124285)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (19136774..19137069)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (19123989..19124283)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene HAUS augmin like complex subunit 6 Neighboring gene small Cajal body-specific RNA 8 Neighboring gene RNA, U6 small nuclear 264, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19102581-19103144 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19126736-19127246 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19127247-19127756 Neighboring gene perilipin 2 Neighboring gene CRISPRi-validated cis-regulatory element chr9.246 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28219 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:19186502-19187002 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19202444-19202962 Neighboring gene ribosomal protein S6 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19791 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19230483-19230989 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19230990-19231495 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:19233697-19233870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:19250753-19251617 Neighboring gene DENN domain containing 4C Neighboring gene uncharacterized LOC124902350

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_074345.1 

    Range
    101..395
    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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    19123991..19124285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    19136774..19137069
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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