RASSF4

Chr 10

Ras association domain family member 4

Also known as: AD037

NCBI Gene: 83937 ENSG00000107551 UniProt: Q8WYP3 OMIM: 610559

The function of this gene has not yet been determined but may involve a role in tumor suppression. Alternative splicing of this gene results in several transcript variants; however, most of the variants have not been fully described. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMACS syndrome

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.55

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.55LOEUF

pLI 0.000

Z-score -0.23

OE 1.06 (0.74–1.55)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.14Z-score

OE missense 0.97 (0.86–1.09)

192 obs / 197.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.06 (0.74–1.55)

0≤0.351.4

Missense OE?0.97 (0.86–1.09)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 19 / 17.9Missense obs/exp: 192 / 197.5Syn Z: -0.52

Background carrier burden — how many people carry a rare variant somewhere in RASSF4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

513 rare PASS variants

Rare truncating (LoF)

1 in 820

104 rare PASS variants

Rare synonymous (reference)

1 in 180

219 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RASSF4. 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 94	1 in 880
South Asian	~43k	1 in 69	1 in 1,100
Remaining (unassigned)	~30k	1 in 51	1 in 1,300
European (Finnish)	~27k	1 in 330	≈ 1 in 6,400
Admixed American	~22k	1 in 67	1 in 330
African / African American	~21k	1 in 66	1 in 1,300
East Asian	~20k	1 in 100	1 in 710
Ashkenazi Jewish	~13k	1 in 260	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 89	1 in 250

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): 9 of 10 coding exons well covered in gnomAD exomes; exon 10 marginal. Genomes: all 10.? see exons ↓