ACAD11

Chr 3

acyl-CoA dehydrogenase family member 11

Also known as: ACAD-11

NCBI Gene: 84129 ENSG00000240303 UniProt: Q709F0 OMIM: 614288

This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.88

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.88LOEUF

pLI 0.000

Z-score 2.20

OE 0.65 (0.49–0.88)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.51Z-score

OE missense 0.93 (0.86–1.01)

396 obs / 425.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.65 (0.49–0.88)

0≤0.351.4

Missense OE?0.93 (0.86–1.01)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 30 / 46.1Missense obs/exp: 396 / 425.5Syn Z: -1.24

Background carrier burden — how many people carry a rare variant somewhere in ACAD11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 54

969 rare PASS variants

Rare truncating (LoF)

1 in 450

184 rare PASS variants

Rare synonymous (reference)

1 in 89

346 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ACAD11. 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 69	1 in 610
South Asian	~43k	1 in 46	1 in 290
Remaining (unassigned)	~30k	1 in 69	1 in 350
European (Finnish)	~27k	1 in 230	1 in 5,300
Admixed American	~22k	1 in 57	1 in 270
African / African American	~21k	1 in 44	1 in 540
East Asian	~20k	1 in 84	1 in 620
Ashkenazi Jewish	~13k	1 in 200	1 in 850
Middle Eastern	~2,884	1 in 78	1 in 320

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 16 of 20 coding exons well covered in gnomAD exomes; exons 2, 6, 10, 16 marginal. Genomes: all 20.? see exons ↓