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LOC112136107 Sharpr-MPRA regulatory region 2512 [ Homo sapiens (human) ]

Gene ID: 112136107, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112136107
Gene description
Sharpr-MPRA regulatory region 2512
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 DNase matched - State 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, Mar 2018]
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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 (110010944..110011238)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (109986633..109986927)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (110448749..110449043)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903012 Neighboring gene NANOG hESC enhancer GRCh37_chr12:110318928-110319429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4846 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4847 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110337802-110338642 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:110338643-110339483 Neighboring gene trichoplein keratin filament binding Neighboring gene ReSE screen-validated silencer GRCh37_chr12:110353916-110354160 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110358257-110358757 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110361416-110362271 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110362776-110363756 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:110363757-110364736 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:110370433-110371632 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110384533-110385204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:110385205-110385876 Neighboring gene GIT ArfGAP 2 Neighboring gene uncharacterized LOC124903013 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6987 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6988 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4850 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6991 Neighboring gene ankyrin repeat domain 13A Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110460576-110461076 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6992 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:110465819-110467018 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:110480304-110480817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6993 Neighboring gene chromosome 12 open reading frame 76 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6994 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6995 Neighboring gene CRISPRi-validated cis-regulatory element chr12.3588 Neighboring gene uncharacterized LOC105369976 Neighboring gene Sharpr-MPRA regulatory region 13461

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_056546.1 

    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
    110010944..110011238
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    109986633..109986927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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