SENP7

Chr 3

SUMO specific peptidase 7

NCBI Gene: 57337 ENSG00000138468 UniProt: Q9BQF6 OMIM: 612846

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases, such as SENP7, process SUMO precursors to generate a C-terminal diglycine motif required for the conjugation reaction. They also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 0.38

Clinical Summary— SENP7

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic· 99 VUS of 138 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.38LOEUF

pLI 0.073

Z-score 5.45

OE 0.25 (0.16–0.38)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.12Z-score

OE missense 0.74 (0.68–0.80)

382 obs / 517.8 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.25 (0.16–0.38)

0≤0.351.4

Missense OE?0.74 (0.68–0.80)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 15 / 60.9Missense obs/exp: 382 / 517.8Syn Z: 1.76

ClinVar Variant Classifications

138 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic2

VUS99

Likely Benign13

Benign5

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
Likely Pathogenic	1	1	0	0	2
VUS	0	98	1	0	99
Likely Benign	0	12	0	1	13
Benign	0	3	1	1	5
Total	2	114	2	2	120

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

View in ClinVar →

10 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap SENP7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →