RPAP1

Chr 15

RNA polymerase II associated protein 1

NCBI Gene: 26015 ENSG00000103932 UniProt: Q9BWH6 OMIM: 611475

This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]

OMIM Research

This protein forms part of the RNA polymerase II (RNAPII) enzyme complex and may recruit RNAPII to chromatin through its interaction with acetylated histones. [provided by RefSeq, Jul 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.76

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.76LOEUF

pLI 0.000

Z-score 3.13

OE 0.58 (0.45–0.76)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.54Z-score

OE missense 0.85 (0.80–0.90)

681 obs / 803.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.58 (0.45–0.76)

0≤0.351.4

Missense OE?0.85 (0.80–0.90)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 38 / 65.3Missense obs/exp: 681 / 803.8Syn Z: 0.02

Background carrier burden — how many people carry a rare variant somewhere in RPAP1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 32

1,750 rare PASS variants

Rare truncating (LoF)

1 in 530

268 rare PASS variants

Rare synonymous (reference)

1 in 110

674 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RPAP1. 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 43	1 in 510
South Asian	~43k	1 in 24	1 in 590
Remaining (unassigned)	~30k	1 in 28	1 in 600
European (Finnish)	~27k	1 in 89	1 in 1,900
Admixed American	~22k	1 in 24	1 in 550
African / African American	~21k	1 in 25	1 in 510
East Asian	~20k	1 in 25	1 in 620
Ashkenazi Jewish	~13k	1 in 120	≈ 1 in 4,400
Middle Eastern	~2,884	1 in 27	≈ 1 in 950

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 24 coding exons well covered in gnomAD exomes and genomes.? see exons ↓