C4BPB
Basic information
Region (hg38): 1:207088860-207099993
Previous symbols: [ "C4BP" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (27 variants)
- not_provided (6 variants)
- C4BPB-related_disorder (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the C4BPB gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017365.3. 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 | 3 | |||||
missense | 23 | 27 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
Total | 0 | 0 | 23 | 6 | 2 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
C4BPB | protein_coding | protein_coding | ENST00000243611 | 6 | 11152 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000440 | 0.655 | 125731 | 0 | 13 | 125744 | 0.0000517 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.463 | 120 | 135 | 0.888 | 0.00000674 | 1676 |
Missense in Polyphen | 23 | 33.171 | 0.69337 | 433 | ||
Synonymous | 0.117 | 48 | 49.0 | 0.979 | 0.00000277 | 431 |
Loss of Function | 0.870 | 8 | 11.1 | 0.719 | 5.56e-7 | 128 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000578 | 0.0000578 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000541 | 0.0000527 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000163 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Controls the classical pathway of complement activation. It binds as a cofactor to C3b/C4b inactivator (C3bINA), which then hydrolyzes the complement fragment C4b. It also accelerates the degradation of the C4bC2a complex (C3 convertase) by dissociating the complement fragment C2a. It also interacts with anticoagulant protein S and with serum amyloid P component. The beta chain binds protein S.;
- Pathway
- Complement and coagulation cascades - Homo sapiens (human);Pertussis - Homo sapiens (human);Innate Immune System;Immune System;FOXA1 transcription factor network;Regulation of Complement cascade;Complement cascade
(Consensus)
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- 0.962
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63
Haploinsufficiency Scores
- pHI
- 0.0690
- hipred
- N
- hipred_score
- 0.123
- ghis
- 0.401
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.471
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- complement activation, classical pathway;blood coagulation;regulation of complement activation;innate immune response;positive regulation of protein catabolic process;negative regulation of complement activation, classical pathway;regulation of opsonization
- Cellular component
- extracellular region;extracellular space;plasma membrane;other organism cell
- Molecular function
- protein binding