ERICH6

Chr 3

glutamate rich 6

Also known as: C3orf44, ERICH6A, FAM194A

NCBI Gene: 131831 ENSG00000163645 UniProt: Q7L0X2

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

Located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.56

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.56LOEUF

pLI 0.000

Z-score -1.07

OE 1.20 (0.93–1.56)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.27Z-score

OE missense 1.04 (0.95–1.14)

363 obs / 348.6 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.20 (0.93–1.56)

0≤0.351.4

Missense OE?1.04 (0.95–1.14)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 40 / 33.3Missense obs/exp: 363 / 348.6Syn Z: 1.14

Background carrier burden — how many people carry a rare variant somewhere in ERICH6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 55

843 rare PASS variants

Rare truncating (LoF)

1 in 260

210 rare PASS variants

Rare synonymous (reference)

1 in 230

275 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ERICH6; 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 72	1 in 260
South Asian	~43k	1 in 52	1 in 150
Remaining (unassigned)	~30k	1 in 42	1 in 250
European (Finnish)	~27k	1 in 230	1 in 430
Admixed American	~22k	1 in 70	1 in 230
African / African American	~21k	1 in 80	1 in 280
East Asian	~20k	1 in 50	1 in 170
Ashkenazi Jewish	~13k	1 in 140	1 in 440
Middle Eastern	~2,884	1 in 66	1 in 160

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): 13 of 14 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 14.? see exons ↓