LOC110121291 eExon 19 TWIST1 limb enhancer [Homo sapiens (human)] - Gene

Summary

Gene symbol: LOC110121291
Gene description: eExon 19 TWIST1 limb enhancer
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 represents a conserved exonic enhancer (eExon 19) that overlaps an exon of the HDAC9 (histone deacetylase 9) gene on the p arm of chromosome 7. It can activate a Hsp68 promoter coupled to a reporter gene in the posterior limb bud of transgenic mice, or an E1b promoter in pectoral fin and branchial arch of transgenic zebrafish. This eExon is thought to be a tissue-specific limb enhancer of the TWIST1 (twist family bHLH transcription factor 1) gene on the q arm of chromosome 7, where that gene encodes a transcription factor that inhibits the expression of the SHH (sonic hedgehog signaling molecule) gene in the anterior limb bud. [provided by RefSeq, Apr 2019]
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Genomic context

Location:: chromosome: 7

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (18834649..18835746)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (18964649..18965746)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (18874272..18875369)

Chromosome 7 - NC_000007.14 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

What's a GeneRIF?

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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

VISTA enhancer hs2307
enhancer exon 19 of HDAC9

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.