ANKRD49

Chr 11

ankyrin repeat domain 49

Also known as: FGIF, GBIF

NCBI Gene: 54851 ENSG00000168876 UniProt: Q8WVL7

Involved in positive regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

Involved in positive regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ANKRD49?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 510

265 rare PASS variants

Rare truncating (LoF)

1 in 2,500

46 rare PASS variants

Rare synonymous (reference)

1 in 410

108 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ANKRD49; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 670	1 in 450
South Asian	~43k	1 in 270	1 in 3,800
Remaining (unassigned)	~30k	1 in 290	1 in 3,000
European (Finnish)	~27k	1 in 610	1 in 1,200
Admixed American	~22k	1 in 510	1 in 520
African / African American	~21k	1 in 430	1 in 1,900
East Asian	~20k	1 in 240	1 in 1,000
Ashkenazi Jewish	~13k	1 in 1,800	1 in 630
Middle Eastern	~2,884	≈ 1 in 720	1 in 360

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓