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LOC121603773 Sharpr-MPRA regulatory region 7306 [ Homo sapiens (human) ]

Gene ID: 121603773, updated on 10-Oct-2023

Summary

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Gene symbol
LOC121603773
Gene description
Sharpr-MPRA regulatory region 7306
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 unmatched - State 1:Tss, active promoter, TSS/CpG island region). [provided by RefSeq, Jun 2021]
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Genomic context

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See LOC121603773 in Genome Data Viewer
Location:
17q
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (73068370..73068664)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (73957269..73957563)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (71064509..71064803)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene solute carrier family 39 member 11 Neighboring gene small Cajal body-specific RNA 24 Neighboring gene Sharpr-MPRA regulatory region 3335 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:70943638-70944837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70947920-70948848 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70948849-70949777 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:70949987-70950548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:70950549-70951109 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:70974043-70974543 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8918 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12683 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12684 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71085784-71086284 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:71086285-71086785 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:71087756-71087987 Neighboring gene autophagy related 12 pseudogene 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:71128061-71128610 Neighboring gene MPRA-validated peak2987 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12685 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12686 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12687 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8920 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:71166424-71167002 Neighboring gene RNA polymerase III subunit K pseudogene 2 Neighboring gene somatostatin receptor 2

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_074996.1 

    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
    73068370..73068664
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    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    73957269..73957563
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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