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LOC112272556 Sharpr-MPRA regulatory region 237 [ Homo sapiens (human) ]

Gene ID: 112272556, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112272556
Gene description
Sharpr-MPRA regulatory region 237
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region), with weaker activity in HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 4:PromP, inactive/poised promoter, highly conserved). [provided by RefSeq, Jul 2021]
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Genomic context

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See LOC112272556 in Genome Data Viewer
Location:
14q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (72894061..72894355)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (67099747..67100045)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (73360769..73361063)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene regulator of G protein signaling 6 Neighboring gene uncharacterized LOC105370559 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:72917516-72918293 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:72923240-72923442 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8683 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:72981479-72981979 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8684 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73011529-73012307 Neighboring gene microRNA 7843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8687 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73066667-73067182 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:73085384-73086583 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr14:73087954-73088634 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr14:73109733-73110932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73118269-73119105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73146128-73146975 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73174572-73175072 Neighboring gene double PHD fingers 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:73208790-73209747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73257468-73257968 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:73276522-73277721 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73318647-73319224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8689 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:73331388-73331571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:73342399-73343100 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:73343101-73343801 Neighboring gene MPRA-validated peak2194 silencer Neighboring gene uncharacterized LOC107984711 Neighboring gene uncharacterized LOC124903429

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. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074
  2. 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_056694.1 

    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_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    72894061..72894355
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    67099747..67100045
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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