CD80

Chr 3

CD80 molecule

Also known as: B7, B7-1, B7.1, BB1, CD28LG, CD28LG1, LAB7

NCBI Gene: 941 ENSG00000121594 UniProt: P33681 OMIM: 112203

The protein encoded by this gene is a membrane receptor that is activated by the binding of CD28 or CTLA-4. The activated protein induces T-cell proliferation and cytokine production. This protein can act as a receptor for adenovirus subgroup B and may play a role in lupus neuropathy. [provided by RefSeq, Aug 2011]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

759

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.90LOEUF

pLI 0.011

Z-score 1.80

OE 0.43 (0.22–0.90)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.75Z-score

OE missense 0.83 (0.72–0.96)

131 obs / 157.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.43 (0.22–0.90)

0≤0.351.4

Missense OE?0.83 (0.72–0.96)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 5 / 11.6Missense obs/exp: 131 / 157.6Syn Z: 0.91

Background carrier burden — how many people carry a rare variant somewhere in CD80?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

317 rare PASS variants

Rare truncating (LoF)

1 in 7,000

41 rare PASS variants

Rare synonymous (reference)

1 in 320

136 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CD80. 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 210	1 in 5,700
South Asian	~43k	1 in 140	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 110	≈ 1 in 30,000
European (Finnish)	~27k	1 in 360	≈ 1 in 27,000
Admixed American	~22k	1 in 280	≈ 1 in 5,600
African / African American	~21k	1 in 300	≈ 1 in 4,400
East Asian	~20k	1 in 260	1 in 4,000
Ashkenazi Jewish	~13k	1 in 730	none seen
Middle Eastern	~2,884	1 in 220	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 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓