FENDRR

Chr 16

FOXF1 adjacent non-coding developmental regulatory RNA

Also known as: FOXF1-AS1, FOXF1AS1, TCONS_00024240, lincFOXF1, onco-lncRNA-21

NCBI Gene: 400550 ENSG00000268388 OMIM: 614975

This gene encodes a long non-coding RNA that binds to polycomb repressive complex 2 (PRC2) and TrxG/MLL complexes to methylate target gene promoters and reduce their expression, and is essential for normal heart and body wall development. Mutations cause abnormal development affecting cardiac and body wall structures. The inheritance pattern and specific disease mechanisms in humans have not been established.

OMIM ResearchSummary from RefSeq

This gene produces a spliced long non-coding RNA transcribed bidirectionally with FOXF1 on the opposite strand. A similar gene in mouse is essential for normal development of the heart and body wall. The encoded transcript is thought to act by binding to polycomb repressive complex 2 (PRC2) and/or TrxG/MLL complexes to promote the methylation of the promoters of target genes, thus reducing their expression. It has been suggested that this transcript may play a role in the progression of gastric cancer. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015]

OMIM ResearchGenerating clinical summary…

Clinical Summary— FENDRR

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic of 5 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic3

Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Non-coding	Total
Pathogenic	2	1	3
Likely Pathogenic	0	0	0
VUS	0	0	0
Likely Benign	0	0	0
Benign	0	0	0
Total	2	1	3

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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43 pathogenic / likely-pathogenic (of 57) ClinVar copy-number / structural variants overlap FENDRR — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →