SOBP

Chr 6AR

sine oculis binding protein homolog

NCBI Gene: 55084ENSG00000112320UniProt: A7XYQ1

Implicated in development of the cochlea

Primary Disease Associations & Inheritance

?Impaired intellectual development, anterior maxillary protrusion, and strabismusMIM #613671
AR
220
ClinVar variants
19
Pathogenic / LP
1.00
pLI score· haploinsufficient
0
Active trials
Clinical Summary— SOBP
🧬
Gene-Disease Validity (ClinGen)
syndromic intellectual disability · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
19 Pathogenic / Likely Pathogenic· 154 VUS of 220 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.13LOEUF
pLI 1.000
Z-score 4.48
OE 0.00 (0.00–0.13)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.92Z-score
OE missense 0.75 (0.69–0.82)
365 obs / 484.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.00 (0.00–0.13)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.75 (0.69–0.82)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 0 / 23.4Missense obs/exp: 365 / 484.1Syn Z: 0.62

ClinVar Variant Classifications

220 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
VUS154
Likely Benign40
Benign4
Conflicting3
19
Pathogenic
154
VUS
40
Likely Benign
4
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
0
0
0
VUS
0
134
13
7
154
Likely Benign
0
5
3
32
40
Benign
0
2
1
1
4
Conflicting
—3
Total01413640220

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

View in ClinVar →

Protein Context — Lollipop Plot

SOBP · protein map & ClinVar variants

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

Gene2Phenotype Curations

SOBP-related intellectual developmental disorder-anterior maxillary protrusion-strabismus

limited
ARLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

?Impaired intellectual development, anterior maxillary protrusion, and strabismus

MIM #613671

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Simulation-Based Education in Physical Therapist Professional Education: A Scoping Review.
Stockert B et al.·Phys Ther
2022Review
Patient CT-based simulation study of secondary-electron-bremsstrahlung imaging for range verification in proton therapy: comparison with prompt gamma and PET imaging for simplified proton pencil beam and SOBP irradiation scenarios.
Yabe T et al.·Phys Med Biol
2025
Commissioning a newly developed treatment planning system, VQA Plan, for fast-raster scanning of carbon-ion beams.
Yagi M et al.·PLoS One
2022
Radiobiological effects and proton RBE determined by wildtype zebrafish embryos.
Szabó ER et al.·PLoS One
2018Functional
Clinical radiobiology of proton therapy: modeling of RBE.
Jones B·Acta Oncol
2017Functional
Application of activity pencil beam algorithm using measured distribution data of positron emitter nuclei for therapeutic SOBP proton beam.
Miyatake A et al.·Med Phys
2013
A modified microdosimetric kinetic model for relative biological effectiveness calculation.
Chen Y et al.·Phys Med Biol
2017Functional
Relative biological effectiveness of proton beams in clinical therapy.
Gerweck LE et al.·Radiother Oncol
1999Review
Technical note: Radiological clinical equivalence for phantom materials in carbon ion therapy.
Taylor PA et al.·Med Phys
2024
Sensitivity study of the microdosimetric kinetic model parameters for carbon ion radiotherapy.
Dahle TJ et al.·Phys Med Biol
2018Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools