SOX8

SRY-box transcription factor 8, the group of SRY-box transcription factors

Basic information

Region (hg38): 16:981444-986979

Links

ENSG00000005513 ∙ NCBI:30812 ∙ OMIM:605923 ∙ HGNC:11203 ∙ Uniprot:P57073 ∙ 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 SOX8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOX8 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				8	3	11
missense			44	7		51
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	44	15	3

Variants in SOX8

This is a list of pathogenic ClinVar variants found in the SOX8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-981940-G-T		not specified	Uncertain significance (Sep 13, 2023)
16-981954-C-T		SOX8-related disorder	Likely benign (Oct 01, 2024)
16-981964-C-T			Benign/Likely benign (Jun 01, 2022)
16-982007-G-C		not specified	Uncertain significance (Nov 21, 2022)
16-982011-C-T		not specified	Uncertain significance (Nov 29, 2021)
16-982050-G-A		not specified	Uncertain significance (Jan 07, 2022)
16-982060-G-A		SOX8-related disorder	Likely benign (Jun 19, 2019)
16-982069-G-T			Likely benign (Aug 01, 2022)
16-982074-G-T		not specified	Uncertain significance (Mar 14, 2023)
16-982082-G-A		not specified	Uncertain significance (Nov 30, 2021)
16-982086-A-C		not specified	Uncertain significance (Nov 18, 2021)
16-982104-A-G		not specified	Uncertain significance (Dec 17, 2023)
16-982110-G-C		not specified	Uncertain significance (Mar 29, 2023)
16-982119-C-T		not specified	Uncertain significance (Jan 30, 2024)
16-982163-T-A			Uncertain significance (Jan 01, 2023)
16-982179-T-C		not specified	Uncertain significance (Apr 09, 2024)
16-982181-C-G		not specified	Uncertain significance (Sep 08, 2024)
16-982195-C-T			Likely benign (Jun 14, 2018)
16-982297-G-A		SOX8-related disorder	Likely benign (Mar 25, 2019)
16-982353-C-G		SOX8-related disorder	Benign (Jun 14, 2019)
16-983731-G-C		not specified	Uncertain significance (Sep 02, 2024)
16-983740-G-A			Likely benign (Jun 18, 2018)
16-983751-G-A		not specified	Uncertain significance (Mar 24, 2023)
16-983762-G-C		not specified	Uncertain significance (Jan 10, 2023)
16-983773-G-C			Uncertain significance (May 29, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SOX8	protein_coding	protein_coding	ENST00000293894	3	5172

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.672	0.327	122355	0	5	122360	0.0000204

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.888	230	271	0.848	0.0000192	2789
Missense in Polyphen		77	117.56	0.65499		1308
Synonymous	-1.72	159	134	1.19	0.0000116	915
Loss of Function	2.72	2	12.3	0.163	6.07e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000503	0.0000482
European (Non-Finnish)	0.0000291	0.0000273
Middle Eastern	0.00	0.00
South Asian	0.0000346	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity). {ECO:0000250}.
• Pathway: Preimplantation Embryo (Consensus)

Haploinsufficiency Scores

• pHI: 0.147
• hipred: Y
• hipred_score: 0.837
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.795

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sox8
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); skeleton phenotype; reproductive system phenotype; limbs/digits/tail phenotype

Gene ontology

• Biological process: osteoblast differentiation;in utero embryonic development;neural crest cell migration;morphogenesis of an epithelium;signal transduction;spermatogenesis;central nervous system development;peripheral nervous system development;male gonad development;regulation of hormone levels;positive regulation of gliogenesis;positive regulation of osteoblast proliferation;skeletal muscle cell differentiation;negative regulation of apoptotic process;cell fate commitment;fat cell differentiation;negative regulation of myoblast differentiation;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;negative regulation of photoreceptor cell differentiation;cell maturation;enteric nervous system development;oligodendrocyte differentiation;Sertoli cell development;astrocyte fate commitment;retina development in camera-type eye;retinal rod cell differentiation;adipose tissue development;morphogenesis of a branching epithelium;renal vesicle induction;ureter morphogenesis;metanephric nephron tubule formation;positive regulation of kidney development;positive regulation of branching involved in ureteric bud morphogenesis
• Cellular component: nucleus;cytoplasm;nuclear transcription factor complex
• Molecular function: RNA polymerase II core promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;transcription factor binding;protein heterodimerization activity