TPBGL

trophoblast glycoprotein like

Basic information

Region (hg38): 11:75240774-75243704

Links

ENSG00000261594NCBI:100507050HGNC:44159Uniprot:P0DKB5AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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
41
clinvar
5
clinvar
46
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 41 5 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
11-75241054-C-A not specified Uncertain significance (Jun 25, 2024)3460419
11-75241072-C-G not specified Uncertain significance (Mar 11, 2022)2278219
11-75241077-C-T not specified Likely benign (Jul 05, 2024)3460417
11-75241095-G-T not specified Uncertain significance (Feb 28, 2024)2354825
11-75241226-C-A not specified Uncertain significance (Feb 10, 2023)2467204
11-75241267-T-C not specified Uncertain significance (Jan 01, 2025)3809744
11-75241290-G-T not specified Uncertain significance (Nov 17, 2023)3181473
11-75241296-G-C not specified Uncertain significance (Dec 03, 2024)2349427
11-75241297-G-C not specified Likely benign (Apr 07, 2023)2534695
11-75241307-C-G not specified Uncertain significance (Apr 07, 2023)2524921
11-75241308-C-G not specified Uncertain significance (Apr 07, 2023)2534696
11-75241335-C-G not specified Uncertain significance (Feb 05, 2024)3181475
11-75241339-G-C not specified Likely benign (Apr 07, 2023)2534697
11-75241362-C-A not specified Likely benign (Apr 07, 2023)2534698
11-75241404-A-T not specified Uncertain significance (Jun 24, 2022)2296814
11-75241433-C-A not specified Uncertain significance (Mar 07, 2023)2473770
11-75241444-C-T not specified Uncertain significance (Apr 07, 2023)2569375
11-75241452-G-A not specified Uncertain significance (Mar 08, 2025)2346854
11-75241473-C-T not specified Uncertain significance (Sep 27, 2021)2402924
11-75241515-G-C not specified Uncertain significance (Apr 17, 2024)3328252
11-75241543-A-C not specified Uncertain significance (Jul 09, 2024)3460421
11-75241545-G-C not specified Uncertain significance (Apr 06, 2024)3328254
11-75241554-G-C not specified Uncertain significance (Feb 27, 2025)3809748
11-75241593-A-C not specified Uncertain significance (Jan 26, 2025)3809747
11-75241617-G-C not specified Uncertain significance (Jan 06, 2023)2457503

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TPBGLprotein_codingprotein_codingENST00000562197 12793
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.4300.46900000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.03032828.50.9840.000001452268
Missense in Polyphen13.12760.3197484
Synonymous-1.602113.51.556.98e-7921
Loss of Function1.0601.320.005.74e-855

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tpbgl
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function