PSG11

protein-coding

pregnancy specific beta-1-glycoprotein 11, 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]

Previous symbols:

PSG13
PSG14

MANE transcript

NM_002785.3

Inheritance

—

ClinVar variants

U:86B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.3

Max pathogenic AF

—

Genomic locus

chr19:43,007,656-43,026,474

External References & Databases

Ensembl (ENSG00000243130)

Transcript & Mutation Effects

hg38 • Region Span ~18.8 kb

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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 PSG11 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 91

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_002785.3. 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						0
missense			85 clinvar	7 clinvar		92
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	7	0	93

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_002785.3	RefSeq	NP_002776.3	5	MANE Select
ENST00000320078.12	Ensembl	ENSP00000319140.7	5	MANE Select
NM_001113410.2	RefSeq	NP_001106881.1	4	Standard
NM_203287.2	RefSeq	NP_976032.2	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cell surface interactions at the vascular wall
Hemostasis

Biological Process

female pregnancy

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000401740
Coding exons: 5
Length: 18857
Individuals with no LoFs: 125611
Homozygous LoFs: 1
Heterozygous LoFs: 23
Defined: 125635
p: 0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.34	295	172	1.72	0.00000906	2138
Missense (PolyPhen)		77	60.039	1.2825		803
Synonymous	-5.08	121	67.8	1.78	0.00000375	671
Loss of Function	-1.14	22	16.9	1.30	0.00000113	187

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.00012	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.971
RVIS EVS: 0.8
RVIS percentile EVS: 87.69

Essentials

Essential (CRISPR): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0269

Gene Damage Prediction

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