LOC108281165 MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324 [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC108281165
Gene description: MED14-independent group 3 enhancer GRCh37_chr10:101544125-101545324
Gene type: biological region
Feature type(s): misc_feature: CAGE_cluster
regulatory: enhancer, silencer, transcriptional_cis_regulatory_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 overlaps the ABCC2 (ATP binding cassette subfamily C member 2) gene. A subregion was validated as an active enhancer by the STARR-seq (self-transcribing active regulatory region sequencing) massively parallel reporter assay in HCT116 colorectal carcinoma cells, where it was defined as a group 3 enhancer that depends on the BRD2, BRD4, P300/CBP and CDK7 cofactors, but it has limited or no dependence on the MED14 core Mediator complex subunit. An overlapping subregion was also defined as a mid-level expression actively transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE), and was validated as a functional enhancer by reporter assays in HeLa cells. An accessible chromatin subregion was used in a lentiviral ReSE (repressive ability of silencer elements) screen that assays for cell survival based on transcriptional repression of an apoptosis-inducing fusion protein. That subregion was identified as a functional silencer in K562 erythroleukemia cells, and was also shown to negatively regulate the ABCC2 (ATP binding cassette subfamily C member 2) and CPN1 (carboxypeptidase N subunit 1) genes based on CRISPR/Cas9-mediated knockout in K562 cells. [provided by RefSeq, Jun 2023]
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Genomic context

Location:: 10q24

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (99783838..99785567)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (100666760..100668489)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (101543595..101544256)

Chromosome 10 - NC_000010.11 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

ABCC2 and CPN1 negatively-actiing cis-regulatory element
ABCC2 intron CAGE-defined mid-level expression enhancer
ABCC2 intron mid CAGE FANTOM5 enhancer
ReSE screen-validated silencer GRCh37_chr10:101544610-101544773

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.