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LOC121175368 Sharpr-MPRA regulatory region 6221 [ Homo sapiens (human) ]

Gene ID: 121175368, updated on 12-Sep-2024

Summary

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Gene symbol
LOC121175368
Gene description
Sharpr-MPRA regulatory region 6221
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 20:ReprD, Polycomb repression w. Duke DNase/promoter and conservation enriched). [provided by RefSeq, Apr 2021]
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Genomic context

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See LOC121175368 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 (132410390..132410684)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (133731678..133731972)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (132095149..132095443)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene plexin A4 Neighboring gene uncharacterized LOC101928807 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:131981706-131982207 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132036582-132037117 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132037118-132037652 Neighboring gene uncharacterized LOC105375511 Neighboring gene uncharacterized LOC102724906 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:132096070-132096270 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:132110455-132111152 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132259713-132260690 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132260691-132261668 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18668 Neighboring gene MPRA-validated peak6731 silencer Neighboring gene Putative uncharacterized protein FLJ40288 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:132425189-132426388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:132435460-132436090 Neighboring gene small nucleolar RNA SNORD46

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_074300.1 

    Range
    101..395
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    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
    132410390..132410684
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    133731678..133731972
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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