TTC36

Chr 11

tetratricopeptide repeat domain 36

Also known as: HBP21

NCBI Gene: 143941 ENSG00000172425 UniProt: A6NLP5

The protein encoded by this gene has three tetratricopeptide repeats and is a chaperone for heat shock protein 70. The encoded protein may function as a tumor suppressor in hepatocellular carcinoma (HCC) since it promotes apoptosis but is downregulated in HCC. [provided by RefSeq, Sep 2016]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.59

LOEUF

Multiple*

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?

1.59LOEUF

pLI 0.000

Z-score 0.43

OE 0.83 (0.45–1.59)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.05Z-score

OE missense 0.99 (0.83–1.18)

84 obs / 85.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.45–1.59)

0≤0.351.4

Missense OE?0.99 (0.83–1.18)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 6 / 7.2Missense obs/exp: 84 / 85.2Syn Z: 0.70

Background carrier burden — how many people carry a rare variant somewhere in TTC36?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

312 rare PASS variants

Rare truncating (LoF)

1 in 2,300

45 rare PASS variants

Rare synonymous (reference)

1 in 590

121 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TTC36. 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 240	1 in 2,800
South Asian	~43k	1 in 130	1 in 830
Remaining (unassigned)	~30k	1 in 180	1 in 1,100
European (Finnish)	~27k	1 in 970	≈ 1 in 10,000
Admixed American	~22k	1 in 270	1 in 1,600
African / African American	~21k	1 in 180	1 in 2,200
East Asian	~20k	1 in 240	1 in 3,300
Ashkenazi Jewish	~13k	≈ 1 in 3,000	none seen
Middle Eastern	~2,884	1 in 230	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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓