GP1BB
Basic information
Region (hg38): 22:19723539-19724771
Links
Phenotypes
GenCC
Source:
- Bernard-Soulier syndrome (Supportive), mode of inheritance: AD
- autosomal dominant macrothrombocytopenia (Supportive), mode of inheritance: AD
- Bernard-Soulier syndrome (Strong), mode of inheritance: AR
- Bernard-Soulier syndrome (Definitive), mode of inheritance: AR
- Bernard-Soulier syndrome (Definitive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Bernard-Soulier syndrome; Giant platelet disorder, isolated | AR | Hematologic; Pharmacogenomic | Preventive measures (eg, in the case of surgery) and treatment of bleeding episodes can be beneficial; Specific medications (eg, certain anesthetics) that interfere with platelet function should be avoided | Hematologic | 18116504; 14081293; 6019024; 1901273; 8703016; 9116284; 9616133; 21173099; 21800012; 22102188 |
ClinVar
This is a list of variants' phenotypes submitted to
- Bernard_Soulier_syndrome (48 variants)
- not_specified (46 variants)
- not_provided (31 variants)
- GP1BB-related_disorder (14 variants)
- Macrothrombocytopenia (12 variants)
- Thrombocytopenia (9 variants)
- Mild_macrothrombocytopenia (3 variants)
- Bernard-Soulier_syndrome,_type_B (2 variants)
- Abnormal_bleeding (2 variants)
- MACROTHROMBOCYTOPENIA,_FAMILIAL,_BERNARD-SOULIER_TYPE (2 variants)
- Increased_mean_platelet_volume (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GP1BB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000407.5. 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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 19 | 19 | ||||
missense | 14 | 62 | 81 | |||
nonsense | 6 | |||||
start loss | 1 | 3 | 4 | |||
frameshift | 12 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 10 | 28 | 62 | 19 | 3 |
Highest pathogenic variant AF is 0.0000210104
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GP1BB | protein_coding | protein_coding | ENST00000366425 | 2 | 1827 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.512 | 0.425 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.459 | 53 | 63.3 | 0.838 | 0.00000341 | 1195 |
Missense in Polyphen | 10 | 14.602 | 0.68482 | 381 | ||
Synonymous | -0.641 | 41 | 36.1 | 1.14 | 0.00000198 | 540 |
Loss of Function | 1.33 | 0 | 2.05 | 0.00 | 8.84e-8 | 28 |
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:
- Function
- FUNCTION: Gp-Ib, a surface membrane protein of platelets, participates in the formation of platelet plugs by binding to von Willebrand factor, which is already bound to the subendothelium.;
- Pathway
- Platelet activation - Homo sapiens (human);ECM-receptor interaction - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Platelet Aggregation Inhibitor Pathway, Pharmacodynamics;GP1b-IX-V activation signalling;Platelet Adhesion to exposed collagen;Platelet Aggregation (Plug Formation);Platelet activation, signaling and aggregation;Intrinsic Pathway of Fibrin Clot Formation;Hemostasis;Formation of Fibrin Clot (Clotting Cascade)
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.161
- hipred
- Y
- hipred_score
- 0.553
- ghis
- 0.567
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gp1bb
- Phenotype
- homeostasis/metabolism phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- cell adhesion;cell surface receptor signaling pathway;blood coagulation;blood coagulation, intrinsic pathway;platelet activation
- Cellular component
- plasma membrane;integral component of plasma membrane
- Molecular function
- transmembrane signaling receptor activity;protein binding;identical protein binding