INTS14

Chr 15

integrator complex subunit 14

Also known as: C15orf44, VWA9

NCBI Gene: 81556 ENSG00000138614 UniProt: Q96SY0 OMIM: 620878

Predicted to enable metal ion binding activity. Involved in RNA polymerase II transcription initiation surveillance; regulation of transcription elongation by RNA polymerase II; and snRNA processing. Located in cytoplasm. Part of INTAC complex and integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.82

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.82LOEUF

pLI 0.000

Z-score 2.22

OE 0.51 (0.32–0.82)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.10Z-score

OE missense 0.81 (0.72–0.91)

204 obs / 253.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.51 (0.32–0.82)

0≤0.351.4

Missense OE?0.81 (0.72–0.91)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 12 / 23.7Missense obs/exp: 204 / 253.1Syn Z: 1.28

Background carrier burden — how many people carry a rare variant somewhere in INTS14?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

637 rare PASS variants

Rare truncating (LoF)

1 in 490

108 rare PASS variants

Rare synonymous (reference)

1 in 410

241 rare PASS variants

Rare missense and truncating variants are carried at similar rates in INTS14; this gene does not show strong loss-of-function constraint by this measure. 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 140	1 in 890
South Asian	~43k	1 in 120	1 in 310
Remaining (unassigned)	~30k	1 in 110	1 in 350
European (Finnish)	~27k	1 in 410	1 in 1,300
Admixed American	~22k	1 in 150	1 in 290
African / African American	~21k	1 in 130	1 in 710
East Asian	~20k	1 in 160	1 in 650
Ashkenazi Jewish	~13k	1 in 730	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 120	≈ 1 in 2,800

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