TFPI

tissue factor pathway inhibitor

Basic information

Region (hg38): 2:187464229-187565760

Previous symbols: [ "LACI" ]

Links

ENSG00000003436 ∙ NCBI:7035 ∙ OMIM:152310 ∙ HGNC:11760 ∙ Uniprot:P10646 ∙ 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 TFPI gene.

• Inborn genetic diseases (4 variants)
• not provided (3 variants)

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			4		1	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					1	1
Total	0	0	4	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
2-187466990-T-G		not specified	Uncertain significance (Feb 27, 2023)
2-187466997-C-G		not specified	Uncertain significance (May 31, 2022)
2-187467037-T-C		not specified	Uncertain significance (Oct 25, 2023)
2-187467833-C-T		not specified	Uncertain significance (Sep 26, 2023)
2-187467845-A-G		not specified	Uncertain significance (Dec 26, 2023)
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)
2-187496871-A-G			Benign (Aug 06, 2018)
2-187497060-A-G		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

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: dbNSFP

• 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