PANX1
pannexin 1, the group of Pannexins
Basic information
Region (hg38): 11:94128841-94181968
Links
Phenotypes
GenCC
Source:
- oocyte maturation defect 7 (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Oocyte/zygote/embryo maturation arrest 7 | AD | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Obstetric | 30918116 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (56 variants)
- not_provided (11 variants)
- Oocyte_maturation_defect_7 (10 variants)
- PANX1-related_disorder (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PANX1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015368.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 7 | |||||
| missense | 55 | 67 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 3 | 0 | 55 | 14 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PANX1 | protein_coding | protein_coding | ENST00000227638 | 5 | 53045 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000247 | 0.751 | 125709 | 0 | 39 | 125748 | 0.000155 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.424 | 255 | 237 | 1.08 | 0.0000126 | 2783 |
| Missense in Polyphen | 98 | 99.65 | 0.98344 | 1154 | ||
| Synonymous | -0.330 | 107 | 103 | 1.04 | 0.00000613 | 842 |
| Loss of Function | 1.22 | 11 | 16.3 | 0.675 | 7.74e-7 | 197 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000177 | 0.000177 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000163 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000160 | 0.000158 |
| Middle Eastern | 0.000163 | 0.000163 |
| South Asian | 0.000414 | 0.000392 |
| Other | 0.000172 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. {ECO:0000269|PubMed:16908669, ECO:0000269|PubMed:20829356}.;
- Pathway
- NOD-like receptor signaling pathway - Homo sapiens (human);miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Electric Transmission Across Gap Junctions;Transmission across Electrical Synapses ;Neuronal System
(Consensus)
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- loftool
- 0.570
- rvis_EVS
- 0.35
- rvis_percentile_EVS
- 74.49
Haploinsufficiency Scores
- pHI
- 0.116
- hipred
- N
- hipred_score
- 0.319
- ghis
- 0.424
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.282
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Panx1
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- panx1a
- Affected structure
- brain
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- response to ischemia;cation transport;calcium ion transport;cell-cell signaling;response to ATP;protein hexamerization;positive regulation of interleukin-1 alpha secretion;positive regulation of interleukin-1 beta secretion;calcium ion transmembrane transport
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;plasma membrane;gap junction;membrane;integral component of membrane;bleb;protein-containing complex
- Molecular function
- protease binding;signaling receptor binding;calcium channel activity;wide pore channel activity;leak channel activity;ion channel binding;protein heterodimerization activity;actin filament binding;gap junction hemi-channel activity;scaffold protein binding