RNF26

Chr 11

ring finger protein 26

NCBI Gene: 79102 ENSG00000173456 UniProt: Q9BY78 OMIM: 606130

The protein encoded by this intronless gene contains a C3HC5 type of RING finger, a motif known to be involved in protein-DNA and protein-protein interactions. The expression of this gene was found to be upregulated in cancer cell lines derived from different types of cancer. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.52

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.52LOEUF

pLI 0.653

Z-score 2.69

OE 0.17 (0.07–0.52)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.18Z-score

OE missense 0.79 (0.71–0.89)

209 obs / 263.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.17 (0.07–0.52)

0≤0.351.4

Missense OE?0.79 (0.71–0.89)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 2 / 12.1Missense obs/exp: 209 / 263.0Syn Z: -0.26

Background carrier burden — how many people carry a rare variant somewhere in RNF26?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

512 rare PASS variants

Rare truncating (LoF)

1 in 6,200

41 rare PASS variants

Rare synonymous (reference)

1 in 99

282 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RNF26. 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 190	1 in 9,600
South Asian	~43k	1 in 74	1 in 1,000
Remaining (unassigned)	~30k	1 in 110	1 in 840
European (Finnish)	~27k	1 in 440	≈ 1 in 25,000
Admixed American	~22k	1 in 120	≈ 1 in 4,500
African / African American	~21k	1 in 140	≈ 1 in 8,400
East Asian	~20k	1 in 190	≈ 1 in 9,900
Ashkenazi Jewish	~13k	1 in 770	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 150	none seen

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