SEBOX

SEBOX homeobox, the group of PRD class homeoboxes and pseudogenes

Basic information

Region (hg38): 17:28363506-28365199

Links

ENSG00000274529 ∙ NCBI:645832 ∙ OMIM:610975 ∙ HGNC:32942 ∙ Uniprot:Q9HB31 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SEBOX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SEBOX gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			6	1		7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	1		2
Total	0	0	7	2	0

Variants in SEBOX

This is a list of pathogenic ClinVar variants found in the SEBOX region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-28364359-G-C		not specified	Uncertain significance (Jul 14, 2023)
17-28364393-A-G		not specified	Likely benign (Oct 14, 2023)
17-28364428-C-T		not specified	Uncertain significance (Apr 08, 2024)
17-28364549-C-T		not specified	Uncertain significance (Jan 06, 2023)
17-28364801-C-G		not specified	Uncertain significance (Jun 05, 2023)
17-28364834-G-C		not specified	Uncertain significance (Apr 18, 2023)
17-28364853-T-C		not specified	Uncertain significance (Mar 28, 2024)
17-28364928-C-T		not specified	Likely benign (Apr 04, 2024)
17-28364929-G-A		not specified	Uncertain significance (Nov 14, 2023)
17-28364953-C-T		not specified	Uncertain significance (Dec 18, 2023)
17-28365162-A-G		not specified	Likely benign (Dec 12, 2023)
17-28365177-G-A		not specified	Uncertain significance (Apr 19, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable transcription factor involved in the control of specification of mesoderm and endoderm. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.82
• rvis_percentile_EVS: 87.87

Haploinsufficiency Scores

• pHI: 0.196

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.860

Mouse Genome Informatics

• Gene name: Sebox

Gene ontology

• Biological process: biological_process;embryo development ending in birth or egg hatching;oogenesis
• Cellular component: cellular_component;nucleus
• Molecular function: molecular_function;DNA binding