PSG8

pregnancy specific beta-1-glycoprotein 8, the group of Pregnancy specific glycoproteins|V-set domain containing

Basic information

Region (hg38): 19:42752686-42765678

Links

ENSG00000124467 ∙ ∙ OMIM:176397 ∙ HGNC:9525 ∙ Uniprot:Q9UQ74 ∙ 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 PSG8 gene.

• not_specified (129 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSG8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182707.3. 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				5	1	6
missense			112	15		127
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	112	20	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PSG8	protein_coding	protein_coding	ENST00000306511	5	103006

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.68e-23	0.00000702	125451	2	290	125743	0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-5.37	452	225	2.01	0.0000125	2736
Missense in Polyphen		126	73.927	1.7044		995
Synonymous	-6.67	167	87.6	1.91	0.00000492	852
Loss of Function	-2.62	28	16.5	1.70	0.00000111	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00575	0.00527
Ashkenazi Jewish	0.00847	0.00837
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000566	0.000554
Middle Eastern	0.000109	0.000109
South Asian	0.00105	0.00105
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Pathway: Cell surface interactions at the vascular wall;Hemostasis (Consensus)

Intolerance Scores

• loftool: 0.981
• rvis_EVS: 1.07
• rvis_percentile_EVS: 91.71

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.217

Gene Damage Prediction

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

Gene ontology

• Cellular component: extracellular region