ZNF648

Chr 1

zinc finger protein 648

NCBI Gene: 127665 ENSG00000179930 UniProt: Q5T619

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.70

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.70LOEUF

pLI 0.000

Z-score -0.54

OE 1.15 (0.79–1.70)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.24Z-score

OE missense 0.97 (0.89–1.05)

363 obs / 376.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.15 (0.79–1.70)

0≤0.351.4

Missense OE?0.97 (0.89–1.05)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 17 / 14.8Missense obs/exp: 363 / 376.1Syn Z: 0.97

Background carrier burden — how many people carry a rare variant somewhere in ZNF648?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

937 rare PASS variants

Rare truncating (LoF)

1 in 300

138 rare PASS variants

Rare synonymous (reference)

1 in 190

394 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ZNF648; this gene does not show strong loss-of-function constraint by this measure. 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 330
South Asian	~43k	1 in 44	1 in 750
Remaining (unassigned)	~30k	1 in 60	1 in 360
European (Finnish)	~27k	1 in 210	1 in 710
Admixed American	~22k	1 in 66	1 in 720
African / African American	~21k	1 in 59	1 in 680
East Asian	~20k	1 in 63	1 in 360
Ashkenazi Jewish	~13k	1 in 250	1 in 1,400
Middle Eastern	~2,884	1 in 69	≈ 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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓