LOC108281187 nontranscribed ENCODE-defined enhancer downstream of SMARCE1P4 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108281187
Gene description: nontranscribed ENCODE-defined enhancer downstream of SMARCE1P4
Gene type: biological region
Feature type(s): regulatory: enhancer, epigenetically_modified_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This genomic element is located approximately 15 kb downstream of the SMARCE1P4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 4) locus. It was defined as a nontranscribed region with regulatory potential based on the co-occurrence of H3K27ac and H3K4me1 ChIP-seq data from the ENCODE (ENCyclopedia Of DNA Elements) project, with an absence of capped transcripts by cap analysis of gene expression (CAGE) in HeLa cells. It was validated as a functional enhancer by reporter assays in HeLa cells. [provided by RefSeq, Jul 2016]
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Genomic context

Location:: 8p11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (37111044..37111708)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (37387208..37387872)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (36968562..36969226)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

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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

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General gene information

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Other Names

no CAGE FANTOM5 enhancer downstream of SMARCE1P4

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.