ATP8B4

Chr 15

ATPase phospholipid transporting 8B4 (putative)

Also known as: ATPIM

NCBI Gene: 79895 ENSG00000104043 UniProt: Q8TF62

This gene encodes a member of the cation transport ATPase (P-type) family and type IV subfamily. The encoded protein is involved in phospholipid transport in the cell membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

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?

1.09LOEUF

pLI 0.000

Z-score 0.92

OE 0.88 (0.71–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.32Z-score

OE missense 0.96 (0.90–1.03)

607 obs / 629.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.88 (0.71–1.09)

0≤0.351.4

Missense OE?0.96 (0.90–1.03)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 56 / 63.9Missense obs/exp: 607 / 629.3Syn Z: 0.48

Background carrier burden — how many people carry a rare variant somewhere in ATP8B4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 35

1,583 rare PASS variants

Rare truncating (LoF)

1 in 390

264 rare PASS variants

Rare synonymous (reference)

1 in 130

528 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ATP8B4. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

Exome coverage (gnomAD): 25 of 27 coding exons well covered in gnomAD exomes; exons 4, 7 marginal. Genomes: all 27.? see exons ↓