SERP1

Chr 3

stress associated endoplasmic reticulum protein 1

Also known as: RAMP4

NCBI Gene: 27230 ENSG00000120742 UniProt: Q9Y6X1 OMIM: 617674

Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to act upstream of or within several processes, including positive regulation of organ growth; positive regulation of peptide hormone secretion; and positive regulation of translation. Located in cytoplasmic microtubule. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.29

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.29LOEUF

pLI 0.265

Z-score 1.26

OE 0.28 (0.10–1.29)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.90Z-score

OE missense 0.59 (0.42–0.84)

22 obs / 37.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.28 (0.10–1.29)

0≤0.351.4

Missense OE?0.59 (0.42–0.84)

0≤0.61.4

Synonymous OE?1.20

0≤1.21.6

LoF obs/exp: 1 / 3.6Missense obs/exp: 22 / 37.5Syn Z: -0.57

Background carrier burden — how many people carry a rare variant somewhere in SERP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 810

119 rare PASS variants

Rare truncating (LoF)

1 in 14,000

24 rare PASS variants

Rare synonymous (reference)

1 in 920

47 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SERP1. 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 950	1 in 13,000
South Asian	~43k	1 in 1,300	1 in 7,000
Remaining (unassigned)	~30k	1 in 680	≈ 1 in 15,000
European (Finnish)	~27k	1 in 1,400	none seen
Admixed American	~22k	1 in 610	≈ 1 in 11,000
African / African American	~21k	1 in 910	≈ 1 in 8,300
East Asian	~20k	1 in 1,300	≈ 1 in 6,500
Ashkenazi Jewish	~13k	1 in 610	none seen
Middle Eastern	~2,884	≈ 1 in 720	none seen

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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓