SOX7

Chr 8

SRY-box transcription factor 7

NCBI Gene: 83595ENSG00000171056UniProt: Q9BT81

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]

0
Active trials
119
Pathogenic / LP
223
ClinVar variants
17
Pubs (1 yr)
-0.7
Missense Z
0.62
LOEUF
Clinical Summary— SOX7
🧬
Gene-Disease Validity (ClinGen)
congenital heart disease · ADLimited

Limited evidence — not for standalone diagnostic reporting

⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.20) despite low pLI — interpret in context.
📋
ClinVar Variants
119 Pathogenic / Likely Pathogenic· 93 VUS of 223 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.62LOEUF
pLI 0.479
Z-score 2.37
OE 0.20 (0.08–0.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.74Z-score
OE missense 1.13 (1.03–1.25)
289 obs / 255.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.20 (0.08–0.62)
0≤0.351.4
Missense OE1.13 (1.03–1.25)
0≤0.61.4
Synonymous OE1.26
0≤1.21.6
LoF obs/exp: 2 / 10.2Missense obs/exp: 289 / 255.5Syn Z: -2.29

ClinVar Variant Classifications

223 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic114
Likely Pathogenic5
VUS93
Likely Benign7
Benign4
114
Pathogenic
5
Likely Pathogenic
93
VUS
7
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
114
0
114
Likely Pathogenic
0
0
5
0
5
VUS
0
82
11
0
93
Likely Benign
0
2
1
4
7
Benign
0
1
0
3
4
Total0851317223

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

View in ClinVar →

SOX7 · 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 5 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