DEFB1
Basic information
Region (hg38): 8:6870592-6877936
Links
Phenotypes
GenCC
Source:
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 DEFB1 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 | 1 | |||||
missense | 9 | |||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 9 | 1 | 1 |
Variants in DEFB1
This is a list of pathogenic ClinVar variants found in the DEFB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
8-6870697-G-C | not specified | Uncertain significance (Dec 14, 2023) | ||
8-6870712-C-T | not specified | Uncertain significance (Jul 30, 2024) | ||
8-6870718-C-G | not specified | Uncertain significance (Aug 21, 2023) | ||
8-6870719-C-A | not specified | Uncertain significance (Feb 28, 2023) | ||
8-6870734-A-C | not specified | Uncertain significance (Jun 03, 2024) | ||
8-6870739-G-A | not specified | Uncertain significance (Oct 12, 2021) | ||
8-6870739-G-T | not specified | Uncertain significance (Sep 17, 2021) | ||
8-6870757-C-T | not specified | Uncertain significance (Feb 05, 2024) | ||
8-6870777-G-T | Likely benign (May 30, 2018) | |||
8-6870790-T-C | not specified | Uncertain significance (Jun 26, 2024) | ||
8-6870793-G-C | not specified | Uncertain significance (May 03, 2023) | ||
8-6870798-G-C | not specified | Likely benign (Oct 29, 2024) | ||
8-6870805-A-T | not specified | Uncertain significance (May 03, 2023) | ||
8-6870807-G-A | Benign (May 31, 2018) | |||
8-6870817-A-C | not specified | Uncertain significance (Apr 12, 2022) | ||
8-6877803-C-T | not specified | Uncertain significance (Aug 27, 2024) | ||
8-6877813-C-G | not specified | Uncertain significance (Apr 17, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
DEFB1 | protein_coding | protein_coding | ENST00000297439 | 2 | 7448 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.406 | 0.478 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -2.99 | 83 | 34.0 | 2.44 | 0.00000152 | 432 |
Missense in Polyphen | 39 | 13.979 | 2.7899 | 144 | ||
Synonymous | -3.22 | 28 | 13.1 | 2.13 | 6.32e-7 | 128 |
Loss of Function | 0.977 | 0 | 1.11 | 0.00 | 4.71e-8 | 13 |
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: Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is important for its motility (PubMed:25122636). {ECO:0000269|PubMed:25122636}.;
- Pathway
- Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins
(Consensus)
Recessive Scores
- pRec
- 0.255
Intolerance Scores
- loftool
- 0.660
- rvis_EVS
- -0.07
- rvis_percentile_EVS
- 48.12
Haploinsufficiency Scores
- pHI
- 0.146
- hipred
- N
- hipred_score
- 0.146
- ghis
- 0.435
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.126
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Defb1
- Phenotype
- immune system phenotype; renal/urinary system phenotype; 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);
Gene ontology
- Biological process
- innate immune response in mucosa;chemotaxis;immune response;G protein-coupled receptor signaling pathway;response to bacterium;antimicrobial humoral response;antibacterial humoral response;cAMP-mediated signaling;calcium-mediated signaling using intracellular calcium source;defense response to bacterium;innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;positive regulation of flagellated sperm motility involved in capacitation;antimicrobial humoral immune response mediated by antimicrobial peptide
- Cellular component
- extracellular region;extracellular space;Golgi lumen;extrinsic component of membrane;extracellular exosome;sperm midpiece;microvesicle
- Molecular function
- protein binding;CCR6 chemokine receptor binding;identical protein binding