FDXACB1

Chr 11

ferredoxin-fold anticodon binding domain containing 1

Also known as: hCG_2033039

NCBI Gene: 91893 ENSG00000255561 UniProt: Q9BRP7

This gene encodes a protein which contains a ferredoxin-fold anticodon-binding domain which is contained in a subset of phenylalanyl tRNA synthetases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 0.94

OE 0.78 (0.54–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.07Z-score

OE missense 0.99 (0.90–1.08)

316 obs / 319.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.78 (0.54–1.18)

0≤0.351.4

Missense OE?0.99 (0.90–1.08)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 17 / 21.7Missense obs/exp: 316 / 319.7Syn Z: -0.93

Background carrier burden — how many people carry a rare variant somewhere in FDXACB1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

763 rare PASS variants

Rare truncating (LoF)

1 in 570

128 rare PASS variants

Rare synonymous (reference)

1 in 140

300 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FDXACB1. 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 130	1 in 850
South Asian	~43k	1 in 51	1 in 210
Remaining (unassigned)	~30k	1 in 79	1 in 830
European (Finnish)	~27k	1 in 170	1 in 620
Admixed American	~22k	1 in 79	1 in 600
African / African American	~21k	1 in 70	1 in 620
East Asian	~20k	1 in 120	1 in 750
Ashkenazi Jewish	~13k	1 in 180	1 in 1,600
Middle Eastern	~2,884	1 in 80	≈ 1 in 580

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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓