RAB8B

Chr 15

RAB8B, member RAS oncogene family

NCBI Gene: 51762 ENSG00000166128 UniProt: Q92930 OMIM: 613532

RAB proteins, like RAB8B, are low molecular mass monomeric GTPases that localize on the cytoplasmic surfaces of distinct membrane-bound organelles. RAB proteins function in intracellular vesicle transport by aiding in the docking and/or fusion of vesicles with their target membranes (summary by Chen et al., 1997 [PubMed 9030196]).[supplied by OMIM, Nov 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.00

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.00LOEUF

pLI 0.001

Z-score 1.58

OE 0.53 (0.30–1.00)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.98Z-score

OE missense 0.47 (0.38–0.59)

53 obs / 112.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.53 (0.30–1.00)

0≤0.351.4

Missense OE?0.47 (0.38–0.59)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 7 / 13.2Missense obs/exp: 53 / 112.0Syn Z: 0.21

Background carrier burden — how many people carry a rare variant somewhere in RAB8B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 380

217 rare PASS variants

Rare truncating (LoF)

1 in 12,000

26 rare PASS variants

Rare synonymous (reference)

1 in 480

113 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RAB8B. 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 340	1 in 12,000
South Asian	~43k	1 in 410	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 350	≈ 1 in 10,000
European (Finnish)	~27k	1 in 2,800	1 in 2,900
Admixed American	~22k	1 in 410	none seen
African / African American	~21k	1 in 750	≈ 1 in 16,000
East Asian	~20k	1 in 480	≈ 1 in 20,000
Ashkenazi Jewish	~13k	≈ 1 in 5,900	none seen
Middle Eastern	~2,884	≈ 1 in 710	≈ 1 in 2,900

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): 6 of 8 coding exons well covered in gnomAD exomes; exons 2, 7 marginal. Genomes: all 8.? see exons ↓