SPSB1

Chr 1

splA/ryanodine receptor domain and SOCS box containing 1

Also known as: SSB-1, SSB1

NCBI Gene: 80176 ENSG00000171621 UniProt: Q96BD6 OMIM: 611657

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.59

Clinical Summary— SPSB1

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.52) — some intolerance to loss-of-function variants.

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ClinVar Variants

20 VUS of 28 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.59LOEUF

pLI 0.520

Z-score 2.45

OE 0.19 (0.08–0.59)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.21Z-score

OE missense 0.55 (0.46–0.64)

102 obs / 187.0 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.19 (0.08–0.59)

0≤0.351.4

Missense OE?0.55 (0.46–0.64)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 2 / 10.6Missense obs/exp: 102 / 187.0Syn Z: 0.05

ClinVar Variant Classifications

28 submitted variants in ClinVar

ClinVar

Classification Summary

VUS20

Likely Benign1

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	20	0	20
Likely Benign	0	1	1
Benign	0	0	0
Total	20	1	21

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

View in ClinVar →

40 pathogenic / likely-pathogenic (of 52) ClinVar copy-number / structural variants overlap SPSB1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →