DEFB106A
Basic information
Region (hg38): 8:7825139-7829053
Previous symbols: [ "DEFB106" ]
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 DEFB106A 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 | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 3 | 2 | 0 |
Variants in DEFB106A
This is a list of pathogenic ClinVar variants found in the DEFB106A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-7828814-C-G | not specified | Likely benign (Aug 16, 2022) | ||
| 8-7828814-C-T | not specified | Uncertain significance (Sep 02, 2024) | ||
| 8-7828846-G-C | not specified | Uncertain significance (May 25, 2022) | ||
| 8-7828903-T-G | not specified | Uncertain significance (May 18, 2023) | ||
| 8-7828916-G-A | not specified | Uncertain significance (Aug 28, 2024) | ||
| 8-7828922-C-G | not specified | Uncertain significance (Mar 17, 2023) | ||
| 8-7828937-G-A | not specified | Likely benign (Mar 25, 2024) | ||
| 8-7828943-T-G | not specified | Likely benign (Oct 06, 2021) | ||
| 8-7828946-T-C | not specified | Likely benign (Nov 15, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DEFB106A | protein_coding | protein_coding | ENST00000335186 | 2 | 3882 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00858 | 0.366 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.402 | 15 | 20.1 | 0.748 | 9.09e-7 | 411 |
| Missense in Polyphen | 4 | 5.2916 | 0.75591 | 107 | ||
| Synonymous | 0.138 | 7 | 7.48 | 0.936 | 3.95e-7 | 105 |
| Loss of Function | -2.66 | 2 | 0.336 | 5.96 | 1.39e-8 | 11 |
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 antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203). {ECO:0000269|PubMed:12600824, ECO:0000269|PubMed:23938203}.;
- Pathway
- Antimicrobial peptides;Innate Immune System;Immune System;Beta defensins;Defensins
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.0323
- hipred
- N
- hipred_score
- 0.238
- ghis
- 0.468
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Low | Low | Low |
| Primary Immunodeficiency | Low | Low | Low |
| Cancer | Low | Low | Low |
Mouse Genome Informatics
- Gene name
- Defb34
- Phenotype
Gene ontology
- Biological process
- innate immune response;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;antifungal innate immune response
- Cellular component
- nucleus;extrinsic component of membrane;microvesicle
- Molecular function
- lipopolysaccharide binding;protein binding;heparin binding;CCR2 chemokine receptor binding