ARID3B

Chr 15

AT-rich interaction domain 3B

Also known as: BDP, DRIL2

NCBI Gene: 10620 ENSG00000179361 UniProt: Q8IVW6 OMIM: 612457

This gene encodes a member of the ARID (AT-rich interaction domain) family of DNA-binding proteins. The encoded protein is homologous with two proteins that bind to the retinoblastoma gene product, and also with the mouse Bright and Drosophila dead ringer proteins. A pseudogene on chromosome 1p31 exists for this gene. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and possibly in chromatin structure modification. [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

0.47

LOEUF

LOF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.47LOEUF

pLI 0.380

Z-score 3.39

OE 0.22 (0.12–0.47)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.27Z-score

OE missense 0.80 (0.73–0.89)

267 obs / 332.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.22 (0.12–0.47)

0≤0.351.4

Missense OE?0.80 (0.73–0.89)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 5 / 22.3Missense obs/exp: 267 / 332.3Syn Z: -0.63

Background carrier burden — how many people carry a rare variant somewhere in ARID3B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 65

538 rare PASS variants

Rare truncating (LoF)

1 in 510

29 rare PASS variants

Rare synonymous (reference)

1 in 160

231 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARID3B. 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 86	1 in 1,800
South Asian	~43k	1 in 71	1 in 2,300
Remaining (unassigned)	~30k	1 in 53	1 in 1,000
European (Finnish)	~27k	1 in 410	1 in 470
Admixed American	~22k	1 in 120	1 in 350
African / African American	~21k	1 in 100	1 in 630
East Asian	~20k	1 in 110	1 in 820
Ashkenazi Jewish	~13k	1 in 420	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 110	≈ 1 in 630

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