ANKRD13C-DT

Chr 1

ANKRD13C divergent transcript

Also known as: HHLA3

NCBI Gene: 11147 ENSG00000197568 UniProt: Q9XRX5 OMIM: 604372

I cannot provide a clinical gene summary for ANKRD13C-DT as no information about protein function, associated diseases, or inheritance patterns was provided in the data. The gene appears to be loss-of-function tolerant based on the low pLI score and high LOEUF value, but without additional clinical or functional data, I cannot describe what this gene does or what conditions result from mutations.

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

—

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.83

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.83LOEUF

pLI 0.007

Z-score 0.10

OE 0.94 (0.41–1.83)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.20Z-score

OE missense 0.93 (0.76–1.15)

60 obs / 64.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.41–1.83)

0≤0.351.4

Missense OE?0.93 (0.76–1.15)

0≤0.61.4

Synonymous OE?0.65

0≤1.21.6

LoF obs/exp: 3 / 3.2Missense obs/exp: 60 / 64.5Syn Z: 1.33

Background carrier burden — how many people carry a rare variant somewhere in ANKRD13C-DT?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 1,900

17 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ANKRD13C-DT; 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 · 7 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	none seen	1 in 2,500
South Asian	~43k	none seen	≈ 1 in 11,000
Remaining (unassigned)	~30k	none seen	≈ 1 in 15,000
European (Finnish)	~27k	none seen	1 in 5,300
Admixed American	~22k	none seen	≈ 1 in 9,200
African / African American	~21k	none seen	1 in 2,500
Ashkenazi Jewish	~13k	none seen	≈ 1 in 13,000

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.