PSG11

pregnancy specific beta-1-glycoprotein 11, the group of Pregnancy specific glycoproteins|V-set domain containing

Basic information

Region (hg38): 19:43007656-43026474

Previous symbols: [ "PSG13", "PSG14" ]

Links

ENSG00000243130 ∙ NCBI:5680 ∙ OMIM:176401 ∙ HGNC:9516 ∙ Uniprot:Q9UQ72 ∙ 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 PSG11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PSG11 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			35			35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	35	0	0

Variants in PSG11

This is a list of pathogenic ClinVar variants found in the PSG11 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43010012-T-C		not specified	Uncertain significance (Dec 15, 2023)
19-43015155-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-43015166-T-C		not specified	Uncertain significance (Nov 18, 2022)
19-43015169-C-A		not specified	Uncertain significance (Aug 19, 2024)
19-43015170-G-C		not specified	Uncertain significance (Aug 01, 2024)
19-43015244-A-G		not specified	Uncertain significance (Oct 01, 2024)
19-43015250-C-G		not specified	Uncertain significance (Oct 20, 2024)
19-43015293-C-A		not specified	Uncertain significance (Dec 17, 2023)
19-43015334-G-A		not specified	Uncertain significance (Oct 06, 2023)
19-43018781-A-G		not specified	Uncertain significance (May 23, 2024)
19-43018799-C-T		not specified	Uncertain significance (Sep 21, 2023)
19-43018800-G-A		not specified	Uncertain significance (Oct 26, 2021)
19-43018821-A-C		not specified	Uncertain significance (Jul 14, 2023)
19-43018821-A-G		not specified	Likely benign (Jul 07, 2024)
19-43018852-C-A		not specified	Uncertain significance (Dec 26, 2023)
19-43018886-G-C		not specified	Uncertain significance (Dec 18, 2023)
19-43018887-T-C		not specified	Uncertain significance (Sep 29, 2023)
19-43018889-T-A		not specified	Uncertain significance (Oct 09, 2024)
19-43018892-G-C		not specified	Uncertain significance (Mar 25, 2024)
19-43018914-T-C		not specified	Uncertain significance (May 09, 2023)
19-43018935-T-C		not specified	Uncertain significance (Sep 01, 2021)
19-43018989-T-C		not specified	Uncertain significance (Aug 02, 2022)
19-43018993-C-A		not specified	Uncertain significance (Oct 12, 2022)
19-43019003-C-T		not specified	Uncertain significance (Dec 28, 2023)
19-43024712-A-T		not specified	Uncertain significance (Dec 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PSG11	protein_coding	protein_coding	ENST00000401740	5	18857

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.85e-17	0.000883	125611	1	23	125635	0.0000955

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.34	295	172	1.72	0.00000906	2138
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000133	0.000123
Middle Eastern	0.000109	0.000109
South Asian	0.000169	0.000164
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.971
• rvis_EVS: 0.8
• rvis_percentile_EVS: 87.69

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: 0.0269

Gene Damage Prediction

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

Gene ontology

• Biological process: female pregnancy
• Cellular component: extracellular region