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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 2 of 2.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_001080837.4	NP_001074306.3	3	yes	-
ENST00000536498.6	ENSP00000444503.3	3	yes	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

• not_specified (40 variants)

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. These statistics are base on transcript: NM_001080837.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34	4		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	4	0

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

Essentials

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

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