UBAP1L

Chr 15

ubiquitin associated protein 1 like

Also known as: RDZH, UBAP-1L

NCBI Gene: 390595 ENSG00000246922 UniProt: F5GYI3

Predicted to enable ubiquitin binding activity. Predicted to be involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to be part of ESCRT I complex. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRetinal dystrophy, Zeitz-Han type

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.03

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?

1.03LOEUF

pLI 0.006

Z-score 1.50

OE 0.49 (0.26–1.03)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.74Z-score

OE missense 0.83 (0.72–0.96)

128 obs / 153.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.49 (0.26–1.03)

0≤0.351.4

Missense OE?0.83 (0.72–0.96)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 5 / 10.2Missense obs/exp: 128 / 153.8Syn Z: 0.87

Background carrier burden — how many people carry a rare variant somewhere in UBAP1L?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 86

559 rare PASS variants

Rare truncating (LoF)

1 in 1,000

99 rare PASS variants

Rare synonymous (reference)

1 in 150

264 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UBAP1L. 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)	~539k	1 in 110	1 in 1,300
South Asian	~40k	1 in 87	1 in 450
Remaining (unassigned)	~29k	1 in 68	1 in 420
European (Finnish)	~25k	1 in 140	1 in 650
African / African American	~21k	1 in 45	1 in 780
East Asian	~18k	1 in 130	1 in 940
Admixed American	~18k	1 in 62	1 in 1,000
Ashkenazi Jewish	~13k	1 in 280	none seen
Middle Eastern	~2,849	1 in 120	1 in 500

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): 4 of 5 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 5.? see exons ↓