PIAS3
protein inhibitor of activated STAT 3, the group of Zinc fingers MIZ-type|MicroRNA protein coding host genes
Basic information
Region (hg38): 1:145848522-145859836
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (60 variants)
- not_provided (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIAS3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006099.3. 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 | 4 | |||||
| missense | 60 | 61 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 61 | 3 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PIAS3 | protein_coding | protein_coding | ENST00000393045 | 14 | 11314 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.985 | 0.0150 | 125736 | 0 | 12 | 125748 | 0.0000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.00 | 298 | 351 | 0.849 | 0.0000204 | 4017 |
| Missense in Polyphen | 103 | 137.48 | 0.74919 | 1593 | ||
| Synonymous | -1.01 | 156 | 141 | 1.11 | 0.00000768 | 1339 |
| Loss of Function | 4.43 | 4 | 30.4 | 0.132 | 0.00000165 | 353 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000581 | 0.0000581 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.0000712 | 0.0000703 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678, PubMed:9388184). Sumoylates CCAR2 which promotes its interaction with SIRT1 (PubMed:25406032). Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus (PubMed:24651376). {ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:24651376, ECO:0000269|PubMed:25406032, ECO:0000269|PubMed:9388184}.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);TGF-Ncore;JAK-STAT-Ncore;Androgen receptor signaling pathway;Prolactin Signaling Pathway;Interleukin-11 Signaling Pathway;Oncostatin M Signaling Pathway;JAK-STAT;EGF-EGFR Signaling Pathway;Interferon type I signaling pathways;DNA Repair;SUMOylation of transcription factors;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;Oncostatin_M;AndrogenReceptor;SUMOylation;EGFR1;Coregulation of Androgen receptor activity;IL11;C-MYB transcription factor network;IL6;Formation of Incision Complex in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Regulation of nuclear SMAD2/3 signaling;IL6-mediated signaling events;Nucleotide Excision Repair
(Consensus)
Recessive Scores
- pRec
- 0.225
Intolerance Scores
- loftool
- 0.259
- rvis_EVS
- -0.66
- rvis_percentile_EVS
- 15.91
Haploinsufficiency Scores
- pHI
- 0.748
- hipred
- Y
- hipred_score
- 0.840
- ghis
- 0.542
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.998
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pias3
- Phenotype
- vision/eye phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;response to hormone;positive regulation of gene expression;protein sumoylation;negative regulation of protein sumoylation;positive regulation of protein sumoylation;negative regulation of osteoclast differentiation;positive regulation of membrane potential;TNFSF11-mediated signaling pathway
- Cellular component
- nucleoplasm;cytoplasm;nuclear speck;dendrite;synapse
- Molecular function
- protein binding;protein C-terminus binding;zinc ion binding;potassium channel regulator activity;SUMO transferase activity;enzyme binding;protein N-terminus binding