GSDMB

gasdermin B, the group of Gasdermins

Basic information

Region (hg38): 17:39904594-39919854

Previous symbols: [ "GSDML" ]

Links

ENSG00000073605 ∙ NCBI:55876 ∙ OMIM:611221 ∙ HGNC:23690 ∙ Uniprot:Q8TAX9 ∙ 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 GSDMB gene.

• Inborn genetic diseases (14 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GSDMB 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				3	1	4
missense			12	2		14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	5	1

Variants in GSDMB

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

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

Position	Type	Phenotype	Significance	ClinVar
17-39904957-G-T		not specified	Uncertain significance (Feb 10, 2023)
17-39905447-G-A			Likely benign (Jan 01, 2023)
17-39905888-G-A		not specified	Uncertain significance (Feb 02, 2024)
17-39905910-C-A		not specified	Uncertain significance (Sep 25, 2023)
17-39905958-G-A			Likely benign (Jul 31, 2018)
17-39906151-C-T		not specified	Uncertain significance (Aug 28, 2023)
17-39906218-T-C		not specified	Uncertain significance (May 15, 2023)
17-39906244-C-T		not specified	Uncertain significance (Dec 13, 2023)
17-39908963-G-A		not specified	Uncertain significance (Apr 04, 2023)
17-39908963-G-C		not specified	Likely benign (Dec 21, 2023)
17-39909757-T-G		not specified	Uncertain significance (Sep 06, 2022)
17-39909811-C-T		not specified	Uncertain significance (Feb 10, 2022)
17-39909892-C-T		not specified	Likely benign (Jan 10, 2023)
17-39912371-G-A		not specified	Likely benign (Aug 10, 2023)
17-39912373-T-C		not specified	Uncertain significance (Jan 30, 2024)
17-39912377-T-C		not specified	Uncertain significance (Nov 08, 2022)
17-39912419-G-A		not specified	Uncertain significance (Nov 09, 2022)
17-39912420-T-A		not specified	Uncertain significance (Apr 28, 2022)
17-39912420-T-C		not specified	Uncertain significance (May 03, 2023)
17-39917169-G-A		not specified	Uncertain significance (Dec 06, 2021)
17-39917170-G-A			Likely benign (Mar 01, 2022)
17-39917193-C-T		not specified	Likely benign (Jan 17, 2024)
17-39917241-T-C		not specified	Uncertain significance (May 18, 2023)
17-39917244-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-39917245-G-A			Benign (Feb 26, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GSDMB	protein_coding	protein_coding	ENST00000418519	10	15260

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.34e-7	0.794	125653	0	6	125659	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.175	221	228	0.967	0.0000122	2721
Missense in Polyphen		48	45.446	1.0562		631
Synonymous	0.109	91	92.3	0.986	0.00000509	802
Loss of Function	1.39	13	19.6	0.663	9.79e-7	244

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000153
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000184	0.0000176
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The N-terminal moiety promotes pyroptosis. May be acting by homooligomerizing within the membrane and forming pores (PubMed:27281216). The physiological relevance of this observation is unknown (Probable). {ECO:0000269|PubMed:27281216, ECO:0000305}.

Recessive Scores

• pRec: 0.0472

Intolerance Scores

• loftool: 0.993
• rvis_EVS: 1.18
• rvis_percentile_EVS: 92.75

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.123
• ghis: 0.387

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00390

Gene Damage Prediction

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

Gene ontology

• Biological process: biological_process;pyroptosis
• Cellular component: cellular_component;cytosol;plasma membrane
• Molecular function: phosphatidylserine binding;molecular_function;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-4-phosphate binding