LOC111721711 skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC111721711
Gene description: skeletal muscle cis-regulatory module in INF2 and ADSSL1 intergenic region
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 region, which is located between the INF2 (inverted formin, FH2 and WH2 domain containing) and ADSSL1 (adenylosuccinate synthase like 1) genes on chromosome 14, represents a cis-regulatory module (CRM) that functions as an enhancer in skeletal muscle. This element was identified as a muscle-specific CRM by the Logistic Regression Analysis and ClusterBuster prediction methods. It was shown to drive selective reporter gene expression in differentiated C2C12 myotubes. [provided by RefSeq, Jan 2018]
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Genomic context

Location:: 14q

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (104721980..104722479)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (98964859..98965358)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (105188317..105188816)

Chromosome 14 - NC_000014.9 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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General gene information

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Other Names

INF2-ADSSL1 intergenic region myotube-selective CRM

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.