RNF7

Chr 3

ring finger protein 7

Also known as: CKBBP1, ROC2, SAG, rbx2

NCBI Gene: 9616 ENSG00000114125 UniProt: Q9UBF6

The protein encoded by this gene is a highly conserved ring finger protein. It is an essential subunit of SKP1-cullin/CDC53-F box protein ubiquitin ligases, which are a part of the protein degradation machinery important for cell cycle progression and signal transduction. This protein interacts with, and is a substrate of, casein kinase II (CSNK2A1/CKII). The phosphorylation of this protein by CSNK2A1 has been shown to promote the degradation of IkappaBalpha (CHUK/IKK-alpha/IKBKA) and p27Kip1(CDKN1B). Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted

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?

1.25LOEUF

pLI 0.033

Z-score 1.17

OE 0.49 (0.22–1.25)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.56Z-score

OE missense 0.45 (0.33–0.61)

28 obs / 62.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.22–1.25)

0≤0.351.4

Missense OE?0.45 (0.33–0.61)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 3 / 6.1Missense obs/exp: 28 / 62.9Syn Z: 0.12

Background carrier burden — how many people carry a rare variant somewhere in RNF7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,300

101 rare PASS variants

Rare truncating (LoF)

1 in 6,300

22 rare PASS variants

Rare synonymous (reference)

1 in 2,000

52 rare PASS variants

Rare missense and truncating variants are carried at similar rates in RNF7; 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 · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 1,500	1 in 8,000
South Asian	~43k	1 in 560	≈ 1 in 10,000
Remaining (unassigned)	~30k	1 in 1,400	≈ 1 in 30,000
European (Finnish)	~27k	1 in 2,400	≈ 1 in 27,000
Admixed American	~22k	1 in 1,600	≈ 1 in 22,000
African / African American	~21k	1 in 1,800	1 in 4,100
East Asian	~20k	1 in 1,200	1 in 3,900
Middle Eastern	~2,884	1 in 480	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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓