TPBGL

trophoblast glycoprotein like

Basic information

Region (hg38): 11:75240774-75243704

Links

ENSG00000261594 ∙ NCBI:100507050 ∙ ∙ HGNC:44159 ∙ Uniprot:P0DKB5 ∙ 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 TPBGL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TPBGL 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			31	4		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	31	4	0

Variants in TPBGL

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

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

Position	Type	Phenotype	Significance	ClinVar
11-75241072-C-G		not specified	Uncertain significance (Mar 11, 2022)
11-75241095-G-T		not specified	Uncertain significance (Feb 28, 2024)
11-75241226-C-A		not specified	Uncertain significance (Feb 10, 2023)
11-75241290-G-T		not specified	Uncertain significance (Nov 17, 2023)
11-75241296-G-C		not specified	Uncertain significance (Dec 01, 2022)
11-75241297-G-C		not specified	Likely benign (Apr 07, 2023)
11-75241307-C-G		not specified	Uncertain significance (Apr 07, 2023)
11-75241308-C-G		not specified	Uncertain significance (Apr 07, 2023)
11-75241335-C-G		not specified	Uncertain significance (Feb 05, 2024)
11-75241339-G-C		not specified	Likely benign (Apr 07, 2023)
11-75241362-C-A		not specified	Likely benign (Apr 07, 2023)
11-75241404-A-T		not specified	Uncertain significance (Jun 24, 2022)
11-75241433-C-A		not specified	Uncertain significance (Mar 07, 2023)
11-75241444-C-T		not specified	Uncertain significance (Apr 07, 2023)
11-75241452-G-A		not specified	Uncertain significance (Nov 10, 2022)
11-75241473-C-T		not specified	Uncertain significance (Sep 27, 2021)
11-75241515-G-C		not specified	Uncertain significance (Apr 17, 2024)
11-75241545-G-C		not specified	Uncertain significance (Apr 06, 2024)
11-75241617-G-C		not specified	Uncertain significance (Jan 06, 2023)
11-75241627-G-C		not specified	Uncertain significance (Jan 10, 2023)
11-75241707-C-G		not specified	Uncertain significance (Jan 16, 2024)
11-75241716-G-C		not specified	Uncertain significance (Apr 13, 2022)
11-75241717-G-A		not specified	Uncertain significance (Apr 23, 2024)
11-75241723-C-G		not specified	Uncertain significance (Sep 26, 2023)
11-75241743-G-A		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TPBGL	protein_coding	protein_coding	ENST00000562197	1	2793

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.430	0.469	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0303	28	28.5	0.984	0.00000145	2268
Missense in Polyphen		1	3.1276	0.31974		84
Synonymous	-1.60	21	13.5	1.55	6.98e-7	921
Loss of Function	1.06	0	1.32	0.00	5.74e-8	55

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR2: S

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tpbgl

Gene ontology

• Cellular component: integral component of membrane