PSG8

protein-coding

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

Gene summary

The human pregnancy-specific glycoproteins (PSGs) are a group of molecules that are mainly produced by the placental syncytiotrophoblasts during pregnancy. PSGs comprise a subgroup of the carcinoembryonic antigen (CEA) family, which belongs to the immunoglobulin superfamily. For additional general information about the PSG gene family, see PSG1 (MIM 176390).[supplied by OMIM, Oct 2009]

MANE transcript

NM_182707.3

Inheritance

—

ClinVar variants

U:127B:22

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.7

Max pathogenic AF

—

Genomic locus

chr19:42,752,686-42,765,678

External References & Databases

Ensembl (ENSG00000124467)

Transcript & Mutation Effects

hg38 • Region Span ~13.0 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PSG8 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 144

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182707.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				5 clinvar	1 clinvar	6
missense			126 clinvar	16 clinvar		142
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	127	21	1	149

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182707.3	RefSeq	NP_874366.1	5	MANE Select
ENST00000306511.5	Ensembl	ENSP00000305005.4	5	MANE Select
NM_001130167.2	RefSeq	NP_001123639.1	6	Standard
NM_001130168.2	RefSeq	NP_001123640.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cell surface interactions at the vascular wall
Hemostasis

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306511
Coding exons: 5
Length: 103006
Individuals with no LoFs: 125451
Homozygous LoFs: 2
Heterozygous LoFs: 290
Defined: 125743
p: 0.00116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-5.37	452	225	2.01	0.0000125	2736
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0048	0.0043	notable
Latino/Admixed American	0.00096	0.00095	rare
Ashkenazi Jewish	0.0085	0.0084	notable
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00057	0.00055	rare
South Asian	0.0010	0.0010	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.981
RVIS EVS: 1.07
RVIS percentile EVS: 91.71

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.217

Gene Damage Prediction

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