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LOC120961764 Sharpr-MPRA regulatory region 10436 [ Homo sapiens (human) ]

Gene ID: 120961764, updated on 10-Oct-2023

Summary

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Gene symbol
LOC120961764
Gene description
Sharpr-MPRA regulatory region 10436
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 non-DNase unmatched - State 17:Gen3', transcription 3' end of genes, highly expressed, more exonic). [provided by RefSeq, Mar 2021]
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Genomic context

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Location:
2p
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69927137..69927431)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69938860..69939154)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70154269..70154563)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70120713-70121648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70121649-70122583 Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15980 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70141467-70142072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11602 Neighboring gene MAX dimerization protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70164441-70164976 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:70173615-70174814 Neighboring gene aspartic peptidase retroviral like 1 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1834 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70199285-70200162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70202867-70203378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70203379-70203889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70211622-70212122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70212123-70212623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70220299-70220798 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:70224580-70224834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70256223-70257094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15984 Neighboring gene Sharpr-MPRA regulatory region 12254 Neighboring gene RNA, 7SL, cytoplasmic 470, pseudogene

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_073981.1 

    Range
    101..395
    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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    69927137..69927431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    69938860..69939154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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