GBP6
Basic information
Region (hg38): 1:89364058-89388160
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 GBP6 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 | 35 | 40 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 35 | 2 | 4 |
Variants in GBP6
This is a list of pathogenic ClinVar variants found in the GBP6 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-89368562-G-T | not specified | Uncertain significance (Dec 21, 2022) | ||
1-89368582-G-A | not specified | Likely benign (Jul 19, 2022) | ||
1-89368623-C-A | not specified | Uncertain significance (Aug 02, 2021) | ||
1-89368682-T-C | not specified | Uncertain significance (Dec 15, 2022) | ||
1-89368694-G-A | not specified | Uncertain significance (Aug 09, 2021) | ||
1-89369592-G-T | not specified | Uncertain significance (Mar 19, 2024) | ||
1-89369606-C-T | not specified | Uncertain significance (Mar 05, 2024) | ||
1-89369633-T-C | not specified | Uncertain significance (Oct 04, 2022) | ||
1-89378128-T-C | not specified | Uncertain significance (Dec 20, 2021) | ||
1-89378166-T-C | not specified | Uncertain significance (Nov 29, 2023) | ||
1-89378425-C-T | not specified | Uncertain significance (Dec 02, 2021) | ||
1-89378437-A-G | not specified | Uncertain significance (Oct 20, 2023) | ||
1-89378503-T-G | not specified | Uncertain significance (Aug 21, 2023) | ||
1-89378603-G-C | not specified | Uncertain significance (May 09, 2023) | ||
1-89380397-A-G | not specified | Uncertain significance (Mar 21, 2023) | ||
1-89380413-A-G | not specified | Uncertain significance (Dec 12, 2023) | ||
1-89380426-G-A | Benign (Oct 17, 2017) | |||
1-89380470-A-T | not specified | Uncertain significance (Mar 08, 2024) | ||
1-89380472-C-T | not specified | Uncertain significance (May 25, 2022) | ||
1-89380494-T-C | not specified | Uncertain significance (Mar 31, 2024) | ||
1-89380521-A-G | not specified | Uncertain significance (Jan 22, 2024) | ||
1-89380536-C-G | not specified | Uncertain significance (Jan 09, 2024) | ||
1-89380538-A-C | not specified | Uncertain significance (Feb 06, 2023) | ||
1-89380581-C-T | not specified | Uncertain significance (Mar 15, 2024) | ||
1-89381727-C-T | not specified | Uncertain significance (Aug 08, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GBP6 | protein_coding | protein_coding | ENST00000370456 | 10 | 22404 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.23e-16 | 0.0254 | 125658 | 0 | 88 | 125746 | 0.000350 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.00135 | 339 | 339 | 1.00 | 0.0000173 | 4192 |
Missense in Polyphen | 82 | 97.684 | 0.83944 | 1335 | ||
Synonymous | 0.218 | 124 | 127 | 0.975 | 0.00000663 | 1170 |
Loss of Function | 0.446 | 25 | 27.5 | 0.908 | 0.00000135 | 321 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000507 | 0.000507 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000871 | 0.000761 |
Finnish | 0.0000463 | 0.0000462 |
European (Non-Finnish) | 0.000247 | 0.000246 |
Middle Eastern | 0.000871 | 0.000761 |
South Asian | 0.00128 | 0.000980 |
Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Binds GTP, GDP and GMP. {ECO:0000250}.;
- Pathway
- Cytokine Signaling in Immune system;Immune System;Interferon gamma signaling;Interferon Signaling
(Consensus)
Recessive Scores
- pRec
- 0.0891
Intolerance Scores
- loftool
- 0.925
- rvis_EVS
- 1.29
- rvis_percentile_EVS
- 93.88
Haploinsufficiency Scores
- pHI
- 0.0605
- hipred
- N
- hipred_score
- 0.112
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0485
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gbp9
- Phenotype
Gene ontology
- Biological process
- immune response;defense response to bacterium;cellular response to interferon-gamma
- Cellular component
- extracellular exosome
- Molecular function
- GTPase activity;GTP binding