FRA7A fragile site, folic acid type, rare, fra(7)(p11.2) [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRA7Aprovided by HGNC
Official Full Name: fragile site, folic acid type, rare, fra(7)(p11.2)provided by HGNC
Primary source: HGNC:HGNC:3919
See related: AllianceGenome:HGNC:3919
Gene type: biological region
Feature type(s): misc_feature: repeat_instability_region
repeat_region
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: This biological region is found within the 5' untranslated region of the zinc finger protein 713 (ZNF713) gene on the p arm of chromosome 7. This region is a rare folate-sensitive fragile site and contains a highly polymorphic CGG/CCG trinucleotide repeat. Moderately expanded premutation alleles of about 80 repeats have been observed, and display mitotic instability. Expansions of the repeat to greater than 450 copies are thought to be associated with autism spectrum disorder. Hypermethylation of a CpG island near the repeat expansion has been observed in alleles with large expansions, resulting in decreased expression of ZNF713 gene products. [provided by RefSeq, Dec 2016]
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Genomic context

Location:: 7p11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (55887601..55887639)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (56047901..56047939)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (55955294..55955332)

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

See Variation Viewer (GRCh37.p13)

General gene information

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Other Names

FRA7A repeat instability region
ZNF713 repeat instability region
fragile site, folic acid type, rare, fra(7)(p11.2) repeat instability region
zinc finger protein 713 repeat instability region

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.