SPMIP6

Chr 9

sperm microtubule inner protein 6

Also known as: C9orf24, CBE1, NYD-SP22, SMRP1, bA573M23.4

This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.14
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.14LOEUF
pLI 0.000
Z-score 1.16
OE 0.69 (0.431.14)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.43Z-score
OE missense 1.10 (0.971.25)
168 obs / 153.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.69 (0.431.14)
00.351.4
Missense OE?1.10 (0.971.25)
00.61.4
Synonymous OE?0.88
01.21.6
LoF obs/exp: 11 / 16.0Missense obs/exp: 168 / 153.1Syn Z: 0.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SPMIP6 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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