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LOC112533679 Sharpr-MPRA regulatory region 8367 [ Homo sapiens (human) ]

Gene ID: 112533679, updated on 10-Oct-2023

Summary

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Gene symbol
LOC112533679
Gene description
Sharpr-MPRA regulatory region 8367
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 5:Enh, candidate strong enhancer, open chromatin). [provided by RefSeq, May 2018]
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Genomic context

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Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (81094829..81095123)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (82003316..82003610)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (79068629..79068923)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904078 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79004316-79004924 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79004925-79005532 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79008768-79009763 Neighboring gene BAIAP2 divergent transcript Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79010814-79011366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79013023-79013574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79017015-79017560 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79019743-79020287 Neighboring gene BAR/IMD domain containing adaptor protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12954 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79025642-79026450 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79026451-79027257 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79029899-79030790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79030791-79031680 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79031681-79032572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79037129-79037736 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79038344-79038950 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79063531-79064032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79066868-79067758 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79069541-79070430 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79070431-79071320 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79075501-79076018 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79076019-79076535 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79085595-79086096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79086097-79086596 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:79086611-79087352 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79092251-79092794 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:79092795-79093338 Neighboring gene Sharpr-MPRA regulatory region 11647 Neighboring gene apoptosis associated tyrosine kinase Neighboring gene microRNA 3065 Neighboring gene microRNA 657 Neighboring gene microRNA 338

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_057352.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    81094829..81095123
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    82003316..82003610
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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