GPN3
Basic information
Region (hg38): 12:110452485-110469268
Previous symbols: [ "ATPBD1C" ]
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 GPN3 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 | 10 | 10 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 10 | 0 | 0 |
Variants in GPN3
This is a list of pathogenic ClinVar variants found in the GPN3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-110453796-G-A | not specified | Uncertain significance (Sep 30, 2021) | ||
12-110453825-T-C | not specified | Uncertain significance (Dec 19, 2022) | ||
12-110455848-A-G | not specified | Uncertain significance (May 27, 2022) | ||
12-110455860-G-A | not specified | Uncertain significance (Aug 28, 2023) | ||
12-110455918-T-C | not specified | Uncertain significance (Aug 28, 2023) | ||
12-110457525-C-T | not specified | Uncertain significance (Dec 26, 2023) | ||
12-110457595-T-C | not specified | Uncertain significance (Sep 17, 2021) | ||
12-110457605-C-G | not specified | Uncertain significance (Mar 11, 2024) | ||
12-110459811-C-T | not specified | Uncertain significance (Feb 17, 2022) | ||
12-110465199-T-C | not specified | Uncertain significance (Apr 07, 2023) | ||
12-110468885-C-G | not specified | Uncertain significance (Oct 21, 2021) | ||
12-110468906-C-G | not specified | Uncertain significance (Oct 06, 2021) | ||
12-110468909-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
12-110468934-G-T | not specified | Uncertain significance (Feb 22, 2024) | ||
12-110468988-C-G | not specified | Uncertain significance (Dec 26, 2023) | ||
12-110469000-C-T | not specified | Uncertain significance (Jul 05, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
GPN3 | protein_coding | protein_coding | ENST00000543199 | 8 | 16785 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
2.90e-7 | 0.768 | 125640 | 0 | 108 | 125748 | 0.000430 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.989 | 141 | 178 | 0.791 | 0.00000907 | 2156 |
Missense in Polyphen | 32 | 50.229 | 0.63708 | 650 | ||
Synonymous | 0.700 | 59 | 66.2 | 0.891 | 0.00000365 | 562 |
Loss of Function | 1.33 | 13 | 19.3 | 0.672 | 0.00000106 | 213 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000238 | 0.000238 |
Ashkenazi Jewish | 0.00744 | 0.00747 |
East Asian | 0.000164 | 0.000163 |
Finnish | 0.0000463 | 0.0000462 |
European (Non-Finnish) | 0.000133 | 0.000132 |
Middle Eastern | 0.000164 | 0.000163 |
South Asian | 0.0000359 | 0.0000327 |
Other | 0.000818 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: Small GTPase required for proper localization of RNA polymerase II (RNAPII). May act at an RNAP assembly step prior to nuclear import. {ECO:0000269|PubMed:21768307}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- 0.885
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.69
Haploinsufficiency Scores
- pHI
- 0.510
- hipred
- N
- hipred_score
- 0.352
- ghis
- 0.637
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.955
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gpn3
- Phenotype
Gene ontology
- Biological process
- Cellular component
- protein-containing complex
- Molecular function
- GTPase activity;protein binding;GTP binding