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LOC121466714 Sharpr-MPRA regulatory region 4572 [ Homo sapiens (human) ]

Gene ID: 121466714, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121466714
Gene description
Sharpr-MPRA regulatory region 4572
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 15:Elon, transcription elongation, stronger H3K36me3, more exonic). [provided by RefSeq, May 2021]
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Genomic context

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Location:
12q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (108701053..108701347)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (108675641..108675935)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (109094829..109095123)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369968 Neighboring gene microRNA 4496 Neighboring gene coronin 1C Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6974 Neighboring gene RNA, U7 small nuclear 169 pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109085249-109085930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109085931-109086612 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:109087326-109087838 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6976 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109095295-109095827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6977 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109108143-109108833 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:109108834-109109524 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr12:109109525-109110214 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4831 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109125165-109125968 Neighboring gene uncharacterized LOC105369969 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:109128377-109128878 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:109164153-109164653 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6978 Neighboring gene small nucleolar RNA SNORA40 Neighboring gene slingshot protein phosphatase 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_074647.1 

    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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    108701053..108701347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    108675641..108675935
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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