ABTB1

Chr 3

ankyrin repeat and BTB domain containing 1

Also known as: BPOZ, BPOZ-2, BTB3, BTBD21, EF1ABP, PP2259

NCBI Gene: 80325 ENSG00000114626 UniProt: Q969K4 OMIM: 608308

This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.76

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.76LOEUF

pLI 0.000

Z-score 2.51

OE 0.47 (0.30–0.76)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.34Z-score

OE missense 0.95 (0.86–1.04)

298 obs / 315.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.47 (0.30–0.76)

0≤0.351.4

Missense OE?0.95 (0.86–1.04)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 12 / 25.7Missense obs/exp: 298 / 315.2Syn Z: -1.00

Background carrier burden — how many people carry a rare variant somewhere in ABTB1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 64

672 rare PASS variants

Rare truncating (LoF)

1 in 1,000

115 rare PASS variants

Rare synonymous (reference)

1 in 70

322 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ABTB1. 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 77	1 in 1,300
South Asian	~43k	1 in 54	1 in 480
Remaining (unassigned)	~30k	1 in 65	1 in 1,500
European (Finnish)	~27k	1 in 220	1 in 1,300
Admixed American	~22k	1 in 55	1 in 510
African / African American	~21k	1 in 66	1 in 2,100
East Asian	~20k	1 in 57	1 in 1,800
Ashkenazi Jewish	~13k	1 in 230	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 59	1 in 410

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