SP100

Chr 2

SP100 nuclear body protein

Also known as: lysp100b

NCBI Gene: 6672ENSG00000067066UniProt: P23497OMIM: 604585

This gene encodes a subnuclear organelle and major component of the PML (promyelocytic leukemia)-SP100 nuclear bodies. PML and SP100 are covalently modified by the SUMO-1 modifier, which is considered crucial to nuclear body interactions. The encoded protein binds heterochromatin proteins and is thought to play a role in tumorigenesis, immunity, and gene regulation. Alternatively spliced variants have been identified for this gene; one of which encodes a high-mobility group protein. [provided by RefSeq, Aug 2011]

GeneReviewsOMIMResearchGenerating clinical summary…
1
Active trials
40
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — SP100
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.55
OE 0.50 (0.37–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.60Z-score
OE missense 0.92 (0.85–1.00)
426 obs / 462.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.37–0.68)
0≤0.351.4
Missense OE?0.92 (0.85–1.00)
0≤0.61.4
Synonymous OE?0.86
0≤1.21.6
LoF obs/exp: 29 / 58.3Missense obs/exp: 426 / 462.1Syn Z: 1.42

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SP100 · protein map & ClinVar variants

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

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients