TFPI
tissue factor pathway inhibitor
Basic information
Region (hg38): 2:187464230-187565760
Previous symbols: [ "LACI" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the TFPI 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 1 | |||||
| Total | 0 | 0 | 7 | 0 | 2 |
Variants in TFPI
This is a list of pathogenic ClinVar variants found in the TFPI region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-187466986-T-G | not specified | Uncertain significance (Mar 25, 2024) | ||
| 2-187466990-T-G | not specified | Uncertain significance (Feb 27, 2023) | ||
| 2-187466997-C-G | not specified | Uncertain significance (May 31, 2022) | ||
| 2-187467030-C-T | not specified | Uncertain significance (Jun 26, 2024) | ||
| 2-187467037-T-C | not specified | Uncertain significance (Oct 25, 2023) | ||
| 2-187467775-T-A | not specified | Uncertain significance (Sep 09, 2024) | ||
| 2-187467833-C-T | not specified | Uncertain significance (Sep 26, 2023) | ||
| 2-187467845-A-G | not specified | Uncertain significance (Dec 26, 2023) | ||
| 2-187467849-C-A | not specified | Uncertain significance (Nov 08, 2024) | ||
| 2-187467924-C-T | not specified | Uncertain significance (Feb 23, 2023) | ||
| 2-187484116-A-G | Benign (Mar 05, 2018) | |||
| 2-187484906-G-T | Benign (Jun 06, 2018) | |||
| 2-187488371-A-T | not specified | Uncertain significance (May 21, 2024) | ||
| 2-187496871-A-G | Benign (Aug 06, 2018) | |||
| 2-187497060-A-G | not specified | Uncertain significance (Sep 01, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| TFPI | protein_coding | protein_coding | ENST00000233156 | 7 | 101531 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.248 | 0.751 | 125502 | 0 | 7 | 125509 | 0.0000279 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.31 | 113 | 159 | 0.709 | 0.00000798 | 2021 |
| Missense in Polyphen | 27 | 56.2 | 0.48043 | 741 | ||
| Synonymous | 0.593 | 48 | 53.5 | 0.897 | 0.00000265 | 523 |
| Loss of Function | 2.81 | 4 | 16.2 | 0.247 | 9.92e-7 | 187 |
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 | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.0000484 | 0.0000440 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000435 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits factor X (X(a)) directly and, in a Xa-dependent way, inhibits VIIa/tissue factor activity, presumably by forming a quaternary Xa/LACI/VIIa/TF complex. It possesses an antithrombotic action and also the ability to associate with lipoproteins in plasma.;
- Pathway
- Complement and coagulation cascades - Homo sapiens (human);Integrated Breast Cancer Pathway;Dengue-2 Interactions with Complement and Coagulation Cascades;Complement and Coagulation Cascades;Extrinsic Pathway of Fibrin Clot Formation;Hemostasis;Formation of Fibrin Clot (Clotting Cascade);Syndecan-4-mediated signaling events;extrinsic prothrombin activation pathway
(Consensus)
Recessive Scores
- pRec
- 0.321
Intolerance Scores
- loftool
- 0.754
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.27
Haploinsufficiency Scores
- pHI
- 0.308
- hipred
- N
- hipred_score
- 0.292
- ghis
- 0.446
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.930
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Tfpi
- Phenotype
- skeleton phenotype; immune system phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype; homeostasis/metabolism phenotype; craniofacial phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- blood coagulation;blood coagulation, extrinsic pathway;negative regulation of endopeptidase activity;negative regulation of blood coagulation;response to estradiol;cellular response to lipopolysaccharide;cellular response to interleukin-1;cellular response to steroid hormone stimulus
- Cellular component
- extracellular region;extracellular space;endoplasmic reticulum;plasma membrane;caveola;cell surface;organelle membrane;anchored component of membrane
- Molecular function
- endopeptidase inhibitor activity;serine-type endopeptidase inhibitor activity