PHKG1
Basic information
Region (hg38): 7:56080282-56092996
Previous symbols: [ "PHKG" ]
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 PHKG1 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 | 40 | 41 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 40 | 1 | 0 |
Variants in PHKG1
This is a list of pathogenic ClinVar variants found in the PHKG1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
7-56081068-C-T | not specified | Uncertain significance (Aug 13, 2021) | ||
7-56081104-C-T | not specified | Uncertain significance (Jul 21, 2021) | ||
7-56081119-G-A | not specified | Uncertain significance (Jan 30, 2024) | ||
7-56081155-A-G | not specified | Uncertain significance (Jun 03, 2022) | ||
7-56081176-C-T | not specified | Uncertain significance (Dec 20, 2022) | ||
7-56081185-G-A | not specified | Uncertain significance (Dec 18, 2023) | ||
7-56081187-C-T | not specified | Uncertain significance (Apr 01, 2024) | ||
7-56081197-G-A | not specified | Uncertain significance (Jun 17, 2024) | ||
7-56081214-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
7-56081221-C-T | not specified | Uncertain significance (Feb 14, 2023) | ||
7-56081222-G-C | not specified | Uncertain significance (May 23, 2023) | ||
7-56081223-A-G | not specified | Uncertain significance (Oct 26, 2021) | ||
7-56081229-C-T | not specified | Uncertain significance (Jun 22, 2024) | ||
7-56081248-G-A | not specified | Uncertain significance (Nov 09, 2021) | ||
7-56081250-C-T | not specified | Uncertain significance (Mar 29, 2023) | ||
7-56081251-G-A | not specified | Uncertain significance (Jan 03, 2022) | ||
7-56081269-G-A | not specified | Uncertain significance (Oct 27, 2021) | ||
7-56081284-C-T | not specified | Uncertain significance (Oct 12, 2021) | ||
7-56081643-C-T | not specified | Uncertain significance (Jun 22, 2023) | ||
7-56081644-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
7-56081659-G-A | not specified | Uncertain significance (Nov 03, 2022) | ||
7-56081695-G-A | not specified | Uncertain significance (Apr 23, 2024) | ||
7-56081703-G-C | not specified | Uncertain significance (Feb 07, 2023) | ||
7-56081712-G-A | not specified | Uncertain significance (Dec 20, 2022) | ||
7-56081751-G-A | not specified | Uncertain significance (Oct 20, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PHKG1 | protein_coding | protein_coding | ENST00000452681 | 10 | 12250 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.57e-15 | 0.0406 | 125660 | 1 | 86 | 125747 | 0.000346 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.593 | 244 | 272 | 0.899 | 0.0000179 | 2740 |
Missense in Polyphen | 99 | 110.39 | 0.89679 | 1124 | ||
Synonymous | -0.109 | 115 | 114 | 1.01 | 0.00000786 | 794 |
Loss of Function | 0.534 | 24 | 27.0 | 0.889 | 0.00000172 | 258 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00149 | 0.00149 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000939 | 0.0000924 |
European (Non-Finnish) | 0.000212 | 0.000211 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000980 | 0.000948 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. In vitro, phosphorylates PYGM, TNNI3, MAPT/TAU, GAP43 and NRGN/RC3 (By similarity). {ECO:0000250}.;
- Pathway
- Glucagon signaling pathway - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Glycogen Metabolism;Metabolism of carbohydrates;Metabolism;Glycogen breakdown (glycogenolysis);Glycogen metabolism
(Consensus)
Recessive Scores
- pRec
- 0.187
Intolerance Scores
- loftool
- 0.946
- rvis_EVS
- -1.42
- rvis_percentile_EVS
- 4.11
Haploinsufficiency Scores
- pHI
- 0.174
- hipred
- N
- hipred_score
- 0.473
- ghis
- 0.618
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.893
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Phkg1
- Phenotype
Zebrafish Information Network
- Gene name
- phkg1a
- Affected structure
- dorsal longitudinal anastomotic vessel
- Phenotype tag
- abnormal
- Phenotype quality
- aplastic
Gene ontology
- Biological process
- carbohydrate metabolic process;glycogen biosynthetic process;protein phosphorylation
- Cellular component
- cytosol;phosphorylase kinase complex
- Molecular function
- calmodulin-dependent protein kinase activity;phosphorylase kinase activity;calmodulin binding;ATP binding;enzyme binding;tau-protein kinase activity