SSX4

SSX family member 4, the group of SSX family

Basic information

Region (hg38): X:48383516-48393347

Links

ENSG00000268009

∙ NCBI:6759 ∙ OMIM:300326 ∙ HGNC:11338 ∙ 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 SSX4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSX4 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						0
missense			4 clinvar	1 clinvar		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	0

Variants in SSX4

This is a list of pathogenic ClinVar variants found in the SSX4 region.

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

Position	Phenotype	Significance	ClinVar
X-48384567-G-A	not specified	Uncertain significance (Mar 18, 2024)	3322905
X-48384609-A-G	not specified	Uncertain significance (Oct 06, 2022)	2304059
X-48384619-C-T	not specified	Uncertain significance (Jun 03, 2024)	2389223
X-48384630-G-A	not specified	Likely benign (Jan 16, 2024)	3170571
X-48385382-G-A	not specified	Uncertain significance (Sep 27, 2021)	2231291

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Recessive Scores

pRec: 0.0281

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.112
ghis: 0.420

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.914

Mouse Genome Informatics

Gene name: Ssxb2
Phenotype

Gene ontology

Biological process: regulation of transcription, DNA-templated
Cellular component: nucleus
Molecular function: nucleic acid binding