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LOC121627936 Sharpr-MPRA regulatory region 12592 [ Homo sapiens (human) ]

Gene ID: 121627936, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121627936
Gene description
Sharpr-MPRA regulatory region 12592
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 both HepG2 liver carcinoma cells (group: HepG2 Activating non-DNase unmatched - State 21:Repr, strong Polycomb repression) and K562 erythroleukemia cells (group: K562 Activating DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121627936 in Genome Data Viewer
Location:
22q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (26643365..26643659)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (27105966..27106260)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (27039329..27039623)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene tyrosylprotein sulfotransferase 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26959537-26960060 Neighboring gene hESC enhancers GRCh37_chr22:26963727-26964250 and GRCh37_chr22:26964251-26964774 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:26964775-26965298 Neighboring gene high mobility group box 1 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18793 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr22:26975739-26976656 and GRCh37_chr22:26976657-26977573 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:26985294-26985794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18794 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18795 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:27003362-27004004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18796 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13574 Neighboring gene crystallin beta A4 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:27009656-27010334 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27013045-27013722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27014401-27015076 Neighboring gene crystallin beta B1 Neighboring gene CRISPRi-validated cis-regulatory element chr22.1058 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27037805-27038669 Neighboring gene Sharpr-MPRA regulatory region 8650 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27041123-27041688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27043802-27044604 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27045408-27046209 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18797 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:27057049-27058028 Neighboring gene iron-sulfur cluster assembly 2 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:27061097-27061597 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27063956-27064539 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:27064540-27065122 Neighboring gene myocardial infarction associated transcript Neighboring gene MIAT neighbor

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_075127.1 

    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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    26643365..26643659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    27105966..27106260
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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