SSX4B

SSX family member 4B, the group of SSX family

Basic information

Region (hg38): X:48402082-48411960

Links

ENSG00000269791 ∙ NCBI:548313 ∙ ∙ HGNC:16880 ∙ Uniprot:O60224 ∙ 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 SSX4B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSX4B 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				1		1
missense			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	2	0

Variants in SSX4B

This is a list of pathogenic ClinVar variants found in the SSX4B region.

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

Position	Type	Phenotype	Significance	ClinVar
X-48409982-A-T		not specified	Uncertain significance (Aug 28, 2024)
X-48410035-G-A		not specified	Uncertain significance (Dec 22, 2024)
X-48410044-G-C		not specified	Uncertain significance (Jul 26, 2022)
X-48410758-G-C		not specified	Uncertain significance (May 26, 2023)
X-48410795-C-T		not specified	Likely benign (Nov 30, 2022)
X-48410806-G-A		not specified	Uncertain significance (Sep 10, 2021)
X-48410816-T-C		not specified	Uncertain significance (Jan 31, 2023)
X-48410836-G-T		not specified	Uncertain significance (Aug 22, 2023)
X-48410858-C-T		not specified	Uncertain significance (Mar 18, 2024)
X-48410859-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Could act as a modulator of transcription.

Recessive Scores

• pRec: 0.0281

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ssxb2