STOX2

storkhead box 2

Basic information

Region (hg38): 4:183797692-184023526

Links

ENSG00000173320 ∙ NCBI:56977 ∙ OMIM:617359 ∙ HGNC:25450 ∙ Uniprot:Q9P2F5 ∙ 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 STOX2 gene.

• not_specified (116 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the STOX2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020225.3. 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				1		1
missense			113	3		116
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
STOX2	protein_coding	protein_coding	ENST00000308497	4	170096

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.484	0.516	124589	0	38	124627	0.000152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	446	532	0.838	0.0000312	6067
Missense in Polyphen		138	197.61	0.69834		2220
Synonymous	-0.540	232	222	1.05	0.0000145	1840
Loss of Function	3.84	6	27.8	0.216	0.00000159	348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000584	0.000582
Ashkenazi Jewish	0.000427	0.000298
East Asian	0.000361	0.000223
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000106
Middle Eastern	0.000361	0.000223
South Asian	0.000256	0.000163
Other	0.000719	0.000496

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.147
• rvis_EVS: -0.17
• rvis_percentile_EVS: 40.65

Haploinsufficiency Scores

• pHI: 0.456
• hipred: Y
• hipred_score: 0.580
• ghis: 0.572

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Stox2

Gene ontology

• Biological process: maternal placenta development;regulation of transcription by RNA polymerase II;response to bacterium;embryo development ending in birth or egg hatching
• Cellular component: cellular_component
• Molecular function: molecular_function