SEBOX

Chr 17

SEBOX homeobox

Also known as: OG-9, OG9, OG9X

Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]

0
Active trials
6
Pathogenic / LP
53
ClinVar variants
4
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummarySEBOX
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 41 VUS of 53 total submissions
Some data sources returned errors (2)

ensembl: TimeoutError: The operation was aborted due to timeout

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

53 submitted variants in ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic1
VUS41
Likely Benign5
Benign1
5
Pathogenic
1
Likely Pathogenic
41
VUS
5
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
1
0
1
VUS
0
34
7
0
41
Likely Benign
0
4
1
0
5
Benign
0
0
1
0
1
Total03815053

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

View in ClinVar →

Protein Context — Lollipop Plot

SEBOX · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 10 resultsSearch PubMed ↗