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LOC121587604 Sharpr-MPRA regulatory region 14735 [ Homo sapiens (human) ]

Gene ID: 121587604, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121587604
Gene description
Sharpr-MPRA regulatory region 14735
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 both HepG2 liver carcinoma cells (group: HepG2 Activating DNase unmatched - State 14:Gen5', transcription transition, highly expressed genes towards 5' end) and K562 erythroleukemia cells (group: K562 Activating non-DNase unmatched - State 23:Low, low signal proximal to active elements). [provided by RefSeq, Jun 2021]
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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 (57424828..57425122)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (58299911..58300205)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (55502189..55502483)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8744 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55163183-55163685 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55168773-55169322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55170245-55170744 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55186230-55186831 Neighboring gene Sharpr-MPRA regulatory region 9462 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55213025-55213556 Neighboring gene A-kinase anchoring protein 1 Neighboring gene MPRA-validated peak2909 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:55273397-55274596 Neighboring gene uncharacterized LOC101927510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8747 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12427 Neighboring gene NANOG hESC enhancer GRCh37_chr17:55337123-55337646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12428 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55365995-55366170 Neighboring gene musashi RNA binding protein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55415927-55416094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12430 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:55441475-55441718 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55456920-55457574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55478625-55479135 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55488073-55488574 Neighboring gene MPRA-validated peak2912 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12432 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8749 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12434 Neighboring gene Sharpr-MPRA regulatory region 3702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12438 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12439 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55548443-55549306 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55549307-55550170 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55562836-55563732 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:55573395-55573896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55584063-55584590 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55588381-55588975 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:55588976-55589569 Neighboring gene uncharacterized LOC101927557 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:55601094-55602293 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:55605169-55606001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12441 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12442 Neighboring gene uncharacterized LOC107984993 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12443 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:55638731-55639231

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_074989.1 

    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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    57424828..57425122
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    58299911..58300205
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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