FRA7A

Chr 7

fragile site, folic acid type, rare, fra(7)(p11.2)

NCBI Gene: 109363672

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]

13
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— FRA7A
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 6 VUS of 13 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FRA7A?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

13 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic1
VUS6
Benign2
4
Pathogenic
1
Likely Pathogenic
6
VUS
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————4
Likely Pathogenic
————1
VUS
————6
Likely Benign
————0
Benign
————2
Total—13

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FRA7A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools