PIAS1
protein inhibitor of activated STAT 1, the group of Zinc fingers MIZ-type
Basic information
Region (hg38): 15:68054309-68198603
Previous symbols: [ "DDXBP1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (45 variants)
- not_specified (41 variants)
- Nephronophthisis (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIAS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016166.3. 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 | 15 | 21 | ||||
| missense | 49 | 51 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 1 | 50 | 16 | 6 |
Highest pathogenic variant AF is 0.0000130129
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PIAS1 | protein_coding | protein_coding | ENST00000249636 | 14 | 136580 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.0000124 | 124639 | 0 | 2 | 124641 | 0.00000802 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.72 | 205 | 348 | 0.589 | 0.0000182 | 4245 |
| Missense in Polyphen | 61 | 153.06 | 0.39853 | 1825 | ||
| Synonymous | -1.58 | 157 | 134 | 1.17 | 0.00000763 | 1281 |
| Loss of Function | 5.22 | 0 | 31.8 | 0.00 | 0.00000176 | 388 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000290 | 0.0000290 |
| Ashkenazi Jewish | 0.0000993 | 0.0000993 |
| 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 pathway and the steroid hormone signaling pathway. In vitro, binds A/T-rich DNA. The effects of this transcriptional coregulation, transactivation or silencing, may vary depending upon the biological context. Together with PRMT1, may repress STAT1 transcriptional activity, in the late phase of interferon gamma (IFN-gamma) signaling. Sumoylates PML (at'Lys-65' and 'Lys-160') and PML-RAR and promotes their ubiquitin-mediated degradation. PIAS1-mediated sumoylation of PML promotes its interaction with CSNK2A1/CK2 which in turn promotes PML phosphorylation and degradation (By similarity). Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation. Plays a dynamic role in adipogenesis by promoting the SUMOylation and degradation of CEBPB (By similarity). {ECO:0000250|UniProtKB:O88907, ECO:0000269|PubMed:14500712, ECO:0000269|PubMed:19136629, ECO:0000269|PubMed:21965678}.;
- Pathway
- Jak-STAT signaling pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);TGF-Ncore;JAK-STAT-Ncore;Androgen receptor signaling pathway;Interleukin-11 Signaling Pathway;Mesodermal Commitment Pathway;TGF-beta Signaling Pathway;The human immune response to tuberculosis;Interferon type I signaling pathways;DNA Repair;sumoylation by ranbp2 regulates transcriptional repression;Cytokine Signaling in Immune system;SUMOylation of DNA damage response and repair proteins;SUMOylation of transcription factors;SUMOylation of chromatin organization proteins;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;Regulation of IFNG signaling;Immune System;SUMOylation;Coregulation of Androgen receptor activity;Signaling events mediated by TCPTP;IL11;Interferon gamma signaling;IFN-gamma pathway;Formation of Incision Complex in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Interferon Signaling;Sumoylation by RanBP2 regulates transcriptional repression;Hedgehog signaling events mediated by Gli proteins;IL6-mediated signaling events;Nucleotide Excision Repair
(Consensus)
Recessive Scores
- pRec
- 0.315
Intolerance Scores
- loftool
- 0.0548
- rvis_EVS
- -0.51
- rvis_percentile_EVS
- 21.41
Haploinsufficiency Scores
- pHI
- 0.971
- hipred
- Y
- hipred_score
- 0.739
- ghis
- 0.617
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.972
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pias1
- Phenotype
- growth/size/body region phenotype; immune 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);
Gene ontology
- Biological process
- G1/S transition of mitotic cell cycle;negative regulation of transcription by RNA polymerase II;JAK-STAT cascade;spermatogenesis;visual learning;protein sumoylation;androgen receptor signaling pathway;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;positive regulation of protein sumoylation;regulation of cell population proliferation;negative regulation of apoptotic process;fat cell differentiation;positive regulation of transcription, DNA-templated;positive regulation of smooth muscle cell differentiation;regulation of interferon-gamma-mediated signaling pathway;protein-DNA complex assembly
- Cellular component
- nucleus;nucleoplasm;PML body;nuclear speck
- Molecular function
- DNA binding;transcription coactivator activity;transcription corepressor activity;protein binding;protein C-terminus binding;zinc ion binding;SUMO transferase activity;enzyme binding;protein domain specific binding;ubiquitin protein ligase binding;androgen receptor binding;SUMO ligase activity