RTP5

Chr 2

receptor transporter protein 5 (putative)

NCBI Gene: 285093 ENSG00000188011 UniProt: Q14D33

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.93

LOEUF

—

Mechanism

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?

1.93LOEUF

pLI 0.016

Z-score -0.58

OE 1.55 (0.47–1.93)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.17Z-score

OE missense 0.97 (0.89–1.07)

331 obs / 339.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.55 (0.47–1.93)

0≤0.351.4

Missense OE?0.97 (0.89–1.07)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 2 / 1.3Missense obs/exp: 331 / 339.9Syn Z: -0.76

Background carrier burden — how many people carry a rare variant somewhere in RTP5?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 52

869 rare PASS variants

Rare truncating (LoF)

1 in 360

127 rare PASS variants

Rare synonymous (reference)

1 in 91

375 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RTP5. 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 71	1 in 610
South Asian	~43k	1 in 49	1 in 670
Remaining (unassigned)	~30k	1 in 57	1 in 320
European (Finnish)	~26k	1 in 97	1 in 1,600
Admixed American	~22k	1 in 47	1 in 510
African / African American	~21k	1 in 43	1 in 490
East Asian	~20k	1 in 55	1 in 330
Ashkenazi Jewish	~13k	1 in 280	1 in 2,500
Middle Eastern	~2,884	1 in 56	1 in 410

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 2 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 2.? see exons ↓