QSOX1

quiescin sulfhydryl oxidase 1

Basic information

Region (hg38): 1:180154869-180204030

Previous symbols: [ "QSCN6" ]

Links

ENSG00000116260 ∙ NCBI:5768 ∙ OMIM:603120 ∙ HGNC:9756 ∙ Uniprot:O00391 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 7.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_002826.5	NP_002817.2	12	yes	-
ENST00000367602.8	ENSP00000356574.3	12	yes	-
NM_001004128.3	NP_001004128.1	13	-	-
ENST00000367600.5	ENSP00000356572.5	13	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the QSOX1 gene.

• not_specified (144 variants)
• not_provided (11 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the QSOX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_002826.5. 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			2	3	2	7
missense			144	6	3	153
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			5			5
Total	0	0	151	9	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
QSOX1	protein_coding	protein_coding	ENST00000367602	12	49197

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125569	0	179	125748	0.000712

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.342	410	430	0.954	0.0000251	4784
Missense in Polyphen		111	122.06	0.90942		1490
Synonymous	1.13	161	180	0.893	0.0000107	1581
Loss of Function	3.29	14	35.0	0.399	0.00000207	347

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00844	0.00813
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000164	0.000163
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000224	0.000211
Middle Eastern	0.000164	0.000163
South Asian	0.000102	0.0000980
Other	0.000872	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the oxidation of sulfhydryl groups in peptide and protein thiols to disulfides with the reduction of oxygen to hydrogen peroxide. May contribute to disulfide bond formation in a variety of secreted proteins. In fibroblasts, it may have tumor- suppressing capabilities being involved in growth regulation. {ECO:0000269|PubMed:10542195, ECO:0000269|PubMed:10708601, ECO:0000269|PubMed:12176051, ECO:0000269|PubMed:16806532, ECO:0000269|PubMed:17331072, ECO:0000269|PubMed:18393449}.
• Pathway: Neutrophil degranulation;Post-translational protein phosphorylation;Post-translational protein modification;Metabolism of proteins;Innate Immune System;Immune System;Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs);Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.814
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.2

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0512

Gene Damage Prediction

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

Gene ontology

• Biological process: platelet degranulation;negative regulation of macroautophagy;neutrophil degranulation;post-translational protein modification;cellular protein metabolic process;cell redox homeostasis;oxidation-reduction process
• Cellular component: extracellular region;extracellular space;endoplasmic reticulum lumen;Golgi apparatus;integral component of Golgi membrane;platelet alpha granule lumen;specific granule lumen;intracellular membrane-bounded organelle;intercellular bridge;extracellular exosome;tertiary granule lumen
• Molecular function: protein disulfide isomerase activity;flavin-linked sulfhydryl oxidase activity