GeneBe

F11

coagulation factor XI

Basic information

Region (hg38): 4:186266189-186289681

Links

ENSG00000088926 ∙ NCBI:2160 ∙ OMIM:264900 ∙ HGNC:3529 ∙ Uniprot:P03951 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • congenital factor XI deficiency (Supportive), mode of inheritance: AD
  • congenital factor XI deficiency (Strong), mode of inheritance: AD
  • congenital factor XI deficiency (Strong), mode of inheritance: AR
  • congenital factor XI deficiency (Definitive), mode of inheritance: Semidominant

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Factor XI deficiencyAD/ARHematologic; PharmacogenomicIndividuals may be at risk of bleeding (eg, following surgery or with injury, and during delivery), and prophylaxis and preventive measures (eg, including avoidance of aspirin) and prompt treatment (eg, with fresh frozen plasma) may be beneficial, including considerations prior to/during pregnancy; Antifibrinolytic therapy may be beneficial in females with menorrhagiaHematologic3871646; 2439152; 3553944; 2813350; 8800510; 18434707; 18160615; 19598070; 19367158; 19049995; 21577094; 21699628; 22624777; 22726099
Heterozygotes may have manifestations that warrant interventions

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the F11 gene.

  • not_provided (428 variants)
  • Hereditary_factor_XI_deficiency_disease (230 variants)
  • Plasma_factor_XI_deficiency (106 variants)
  • Inborn_genetic_diseases (50 variants)
  • not_specified (26 variants)
  • F11-related_disorder (24 variants)
  • Abnormal_bleeding (5 variants)
  • Thrombocytopenia (1 variants)
  • Factor_XI (1 variants)
  • Factor_XI_deficiency (1 variants)
  • Coagulation_factor_deficiency_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the F11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000128.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
10
clinvar
139
clinvar
3
clinvar
 153
missense
10
clinvar
59
clinvar
170
clinvar
10
clinvar
1
clinvar
 250
nonsense
19
clinvar
19
clinvar
 38
start loss
1
2
 3
frameshift
23
clinvar
33
clinvar
1
clinvar
 57
splice donor/acceptor (+/-2bp)
6
clinvar
25
clinvar
 31
Total 60 138 181 149 4

Highest pathogenic variant AF is 0.0006040638

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
F11protein_codingprotein_codingENST00000403665 1423737
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.61e-260.000069012537633691257480.00148
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.01993423430.9970.00001954099
Missense in Polyphen136137.480.989221684
Synonymous-0.4871371301.050.000008611166
Loss of Function-0.5303733.71.100.00000172414

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008070.000807
Ashkenazi Jewish0.01710.0169
East Asian0.003260.00327
Finnish0.00009250.0000924
European (Non-Finnish)0.0007130.000712
Middle Eastern0.003260.00327
South Asian0.0008820.000882
Other0.002120.00212

dbNSFP

Source: dbNSFP

Function
FUNCTION: Factor XI triggers the middle phase of the intrinsic pathway of blood coagulation by activating factor IX.;
Disease
DISEASE: Factor XI deficiency (FA11D) [MIM:612416]: A hemorrhagic disease characterized by reduced levels and activity of factor XI resulting in moderate bleeding symptoms, usually occurring after trauma or surgery. Patients usually do not present spontaneous bleeding but women can present with menorrhagia. Hemorrhages are usually moderate. {ECO:0000269|PubMed:10027710, ECO:0000269|PubMed:10606881, ECO:0000269|PubMed:11895778, ECO:0000269|PubMed:15026311, ECO:0000269|PubMed:15180874, ECO:0000269|PubMed:1547342, ECO:0000269|PubMed:15953011, ECO:0000269|PubMed:16607084, ECO:0000269|PubMed:18005151, ECO:0000269|PubMed:21457405, ECO:0000269|PubMed:21668437, ECO:0000269|PubMed:21999818, ECO:0000269|PubMed:22016685, ECO:0000269|PubMed:22159456, ECO:0000269|PubMed:22322133, ECO:0000269|PubMed:25158988, ECO:0000269|PubMed:2813350, ECO:0000269|PubMed:7669672, ECO:0000269|PubMed:7888672, ECO:0000269|PubMed:9401068, ECO:0000269|PubMed:9787168}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
Pathway
Complement and coagulation cascades - Homo sapiens (human);Aminocaproic Acid Action Pathway;Tranexamic Acid Action Pathway;Urokinase Action Pathway;Reteplase Action Pathway;Streptokinase Action Pathway;Tenecteplase Action Pathway;Alteplase Action Pathway;Anistreplase Action Pathway;Aprotinin Action Pathway;Phenindione Action Pathway;Dicoumarol Action Pathway;Warfarin Action Pathway;Acenocoumarol Action Pathway;Coagulation ;Bivalirudin Action Pathway;Argatroban Action Pathway;Ardeparin Action Pathway;Heparin Action Pathway;Fondaparinux Action Pathway;Enoxaparin Action Pathway;Phenprocoumon Action Pathway;Dicumarol Action Pathway;Ximelagatran Action Pathway;Lepirudin Action Pathway;Blood Clotting Cascade;Dengue-2 Interactions with Blood Clotting Cascade;intrinsic prothrombin activation pathway;Intrinsic Pathway of Fibrin Clot Formation;Hemostasis;Formation of Fibrin Clot (Clotting Cascade) (Consensus)

Recessive Scores

pRec
0.483

Intolerance Scores

loftool
0.207
rvis_EVS
-0.93
rvis_percentile_EVS
9.68

Haploinsufficiency Scores

pHI
0.0456
hipred
N
hipred_score
0.313
ghis
0.513

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.780

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
F11
Phenotype
immune system 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); 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); hematopoietic system phenotype; 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype; homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
blood coagulation;blood coagulation, intrinsic pathway;plasminogen activation;positive regulation of fibrinolysis
Cellular component
extracellular region;extracellular space;plasma membrane;membrane;extracellular exosome
Molecular function
serine-type endopeptidase activity;protein binding;heparin binding;serine-type aminopeptidase activity