PIAS4
protein inhibitor of activated STAT 4, the group of Zinc fingers MIZ-type
Basic information
Region (hg38): 19:4007736-4039386
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (54 variants)
- not_provided (9 variants)
- PIAS4-related_disorder (8 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIAS4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015897.4. 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 | 11 | 13 | ||||
| missense | 53 | 55 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 53 | 13 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PIAS4 | protein_coding | protein_coding | ENST00000262971 | 11 | 31741 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000139 | 117428 | 0 | 1 | 117429 | 0.00000426 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.63 | 209 | 347 | 0.603 | 0.0000244 | 3277 |
| Missense in Polyphen | 48 | 142.16 | 0.33766 | 1325 | ||
| Synonymous | -1.81 | 195 | 165 | 1.18 | 0.0000135 | 1018 |
| Loss of Function | 4.66 | 0 | 25.3 | 0.00 | 0.00000114 | 295 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000675 | 0.0000675 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| 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, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway. Involved in gene silencing. Mediates sumoylation of CEBPA, PARK7, HERC2, MYB, TCF4 and RNF168. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. {ECO:0000269|PubMed:12511558, ECO:0000269|PubMed:12631292, ECO:0000269|PubMed:12727872, ECO:0000269|PubMed:15831457, ECO:0000269|PubMed:15976810, ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:22508508}.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);TGF-Ncore;JAK-STAT-Ncore;Androgen receptor signaling pathway;HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA);DNA Repair;Nonhomologous End-Joining (NHEJ);DNA Double-Strand Break Repair;Metabolism of lipids;SUMOylation of DNA damage response and repair proteins;SUMOylation of transcription factors;Homology Directed Repair;Post-translational protein modification;SUMOylation of DNA replication proteins;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;G2/M DNA damage checkpoint;G2/M Checkpoints;Cell Cycle Checkpoints;Metabolism;Metabolism of steroids;AndrogenReceptor;SUMOylation;Vitamin D (calciferol) metabolism;Coregulation of Androgen receptor activity;IFN-gamma pathway;Cell Cycle;Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks;DNA Double Strand Break Response;Regulation of cytoplasmic and nuclear SMAD2/3 signaling;Processing of DNA double-strand break ends;Regulation of nuclear SMAD2/3 signaling;Steroid hormones
(Consensus)
Recessive Scores
- pRec
- 0.167
Intolerance Scores
- loftool
- rvis_EVS
- -0.69
- rvis_percentile_EVS
- 15.27
Haploinsufficiency Scores
- pHI
- 0.661
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.538
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.962
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pias4
- Phenotype
- immune system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;double-strand break repair via nonhomologous end joining;negative regulation of tumor necrosis factor-mediated signaling pathway;Wnt signaling pathway;protein sumoylation;negative regulation of NF-kappaB transcription factor activity;positive regulation of protein sumoylation;vitamin D metabolic process;negative regulation of transcription, DNA-templated;positive regulation of keratinocyte apoptotic process;positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage
- Cellular component
- nucleus;nucleoplasm;cytoplasm;nuclear matrix;PML body;transferase complex
- Molecular function
- DNA binding;transcription corepressor activity;protein binding;protein C-terminus binding;zinc ion binding;SUMO transferase activity;ubiquitin protein ligase binding;SUMO ligase activity