THAP10

Chr 15

THAP domain containing 10

NCBI Gene: 56906 ENSG00000129028 UniProt: Q9P2Z0

This gene encodes a member of a family of proteins sharing an N-terminal Thanatos-associated domain. The Thanatos-associated domain contains a zinc finger signature similar to DNA-binding domains. This gene is part of a bidirectional gene pair on the long arm of chromosome 15 that is regulated by estrogen and may play a role in breast cancer. [provided by RefSeq, Nov 2010]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.046

Z-score 1.38

OE 0.43 (0.20–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.48Z-score

OE missense 0.89 (0.77–1.03)

132 obs / 148.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.43 (0.20–1.12)

0≤0.351.4

Missense OE?0.89 (0.77–1.03)

0≤0.61.4

Synonymous OE?1.10

0≤1.21.6

LoF obs/exp: 3 / 6.9Missense obs/exp: 132 / 148.5Syn Z: -0.58

Background carrier burden — how many people carry a rare variant somewhere in THAP10?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

354 rare PASS variants

Rare truncating (LoF)

1 in 1,500

72 rare PASS variants

Rare synonymous (reference)

1 in 240

139 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for THAP10. 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 2,500
South Asian	~43k	1 in 170	1 in 380
Remaining (unassigned)	~30k	1 in 120	1 in 1,200
European (Finnish)	~27k	1 in 1,100	≈ 1 in 7,800
Admixed American	~22k	1 in 170	1 in 2,200
African / African American	~21k	1 in 140	1 in 300
East Asian	~20k	1 in 150	1 in 3,700
Ashkenazi Jewish	~13k	≈ 1 in 4,300	1 in 930
Middle Eastern	~2,884	1 in 210	≈ 1 in 720

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