SAP30BP

Chr 17

SAP30 binding protein

Also known as: HCNGP, HTRG, HTRP

NCBI Gene: 29115ENSG00000161526UniProt: Q9UHR5

Predicted to be involved in regulation of DNA-templated transcription. Located in intermediate filament cytoskeleton and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
14
Pathogenic / LP
55
ClinVar variants
2
Pubs (1 yr)
1.7
Missense Z
0.79
LOEUF
Clinical Summary— SAP30BP
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 41 VUS of 55 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.79LOEUF
pLI 0.000
Z-score 2.28
OE 0.47 (0.29–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.75Z-score
OE missense 0.63 (0.54–0.74)
114 obs / 179.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.47 (0.29–0.79)
0≤0.351.4
Missense OE0.63 (0.54–0.74)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 10 / 21.4Missense obs/exp: 114 / 179.9Syn Z: 0.02
DN
DN
0.6842th %ile
GOF
0.4579th %ile
LOF
0.4136th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
Likely Pathogenic1
VUS41
13
Pathogenic
1
Likely Pathogenic
41
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
1
0
1
VUS
0
36
5
0
41
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total03619055

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

SAP30BP · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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