SEBOX

protein-coding

SEBOX homeobox, the group of PRD class homeoboxes and pseudogenes

Gene summary

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]

MANE transcript

NM_001080837.4

Inheritance

—

ClinVar variants

U:34B:4

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chr17:28,363,506-28,365,199

External References & Databases

Ensembl (ENSG00000274529)

Transcript & Mutation Effects

hg38 • Region Span ~1.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to SEBOX variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 38

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080837.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			34 clinvar	4 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	34	4	0	38

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080837.4	RefSeq	NP_001074306.3	3	MANE Select
ENST00000536498.6	Ensembl	ENSP00000444503.3	3	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
embryo development ending in birth or egg hatching
oogenesis

Molecular Function

molecular_function
DNA binding

Cellular Component

cellular_component
nucleus

dbNSFP Gene Annotations

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 (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.860