ADTRP

Chr 6

androgen dependent TFPI regulating protein

Also known as: AIG1L, C6orf105, dJ413H6.1

NCBI Gene: 84830ENSG00000111863UniProt: Q96IZ2

Enables hydrolase activity. Involved in several processes, including cell migration involved in sprouting angiogenesis; cellular response to oxidised low-density lipoprotein particle stimulus; and negative regulation of secretion by cell. Located in caveola and cell surface. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
1
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.36
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?
1.36LOEUF
pLI 0.000
Z-score 0.59
OE 0.83 (0.52–1.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.18Z-score
OE missense 0.96 (0.83–1.11)
128 obs / 133.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.83 (0.52–1.36)
0≤0.351.4
Missense OE?0.96 (0.83–1.11)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 11 / 13.3Missense obs/exp: 128 / 133.8Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ADTRP · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients