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LOC123956224 Sharpr-MPRA regulatory region 13565 [ Homo sapiens (human) ]

Gene ID: 123956224, updated on 12-Sep-2024

Summary

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Gene symbol
LOC123956224
Gene description
Sharpr-MPRA regulatory region 13565
Gene type
biological region
Feature type(s)
regulatory: silencer
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 repressive element 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 Repressive non-DNase unmatched - State 19:H4K20, transcription, primarily H4K20me1, more intronic). [provided by RefSeq, Jan 2022]
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Genomic context

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See LOC123956224 in Genome Data Viewer
Location:
7q
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (131020670..131020964)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (132338186..132338480)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (130705429..130705723)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130571236-130572435 Neighboring gene Sharpr-MPRA regulatory region 2521 Neighboring gene long intergenic non-protein coding RNA, p53 induced transcript Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:130588151-130589350 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr7:130595421-130595954 and GRCh37_chr7:130595955-130596488 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:130597482-130598681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18651 Neighboring gene microRNA 29b-1 Neighboring gene long intergenic non-protein coding RNA 513 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:130635654-130635822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18652 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26659 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130644756-130645955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26663 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26664 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26667 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130729465 Neighboring gene Sharpr-MPRA regulatory region 6658 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130743720 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130743868 Neighboring gene melanoma risk locus-associated MPRA allelic enhancers 7:130744026 and 7:130744055 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130746088 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130750088 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130751957 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130751320 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130754812 Neighboring gene RNA, U6 small nuclear 1010, pseudogene Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130757740 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130758576 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130763709 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:130775512-130776367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18653 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18654 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18655 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:130792685-130793536 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18657 Neighboring gene MKLN1 intron CAGE-defined mid-level expression enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26669 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18660 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130848608-130849807 Neighboring gene muskelin 1 Neighboring gene MPRA-validated peak6722 silencer Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:130872973-130874172 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:130875573-130876331 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130880490 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 7:130888388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26673 Neighboring gene MPRA-validated peak6724 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26674 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26675 Neighboring gene ribosomal protein L27 pseudogene 11

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_078418.1 

    Range
    101..395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    131020670..131020964
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    132338186..132338480
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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