STAT5A
signal transducer and activator of transcription 5A, the group of SH2 domain containing
Basic information
Region (hg38): 17:42287547-42311943
Previous symbols: [ "STAT5" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
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 STAT5A 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 | 4 | |||||
| missense | 23 | 26 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 23 | 2 | 5 |
Variants in STAT5A
This is a list of pathogenic ClinVar variants found in the STAT5A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 17-42289438-G-C | not specified | Uncertain significance (Jun 03, 2024) | ||
| 17-42289870-G-T | not specified | Uncertain significance (Oct 27, 2023) | ||
| 17-42292027-A-G | not specified | Uncertain significance (Apr 17, 2023) | ||
| 17-42295708-G-A | Benign (May 08, 2018) | |||
| 17-42299760-C-G | not specified | Likely benign (Jan 26, 2023) | ||
| 17-42299763-A-C | not specified | Likely benign (Jan 26, 2023) | ||
| 17-42299781-C-T | not specified | Uncertain significance (Dec 19, 2022) | ||
| 17-42299826-T-C | Benign (Dec 31, 2019) | |||
| 17-42300193-G-A | not specified | Uncertain significance (May 07, 2024) | ||
| 17-42300762-G-A | not specified | Uncertain significance (May 16, 2024) | ||
| 17-42300766-G-C | not specified | Uncertain significance (Nov 03, 2023) | ||
| 17-42300776-C-T | not specified | Uncertain significance (Apr 01, 2024) | ||
| 17-42300825-A-C | not specified | Uncertain significance (Dec 01, 2022) | ||
| 17-42301342-C-T | not specified | Uncertain significance (Feb 26, 2024) | ||
| 17-42301357-G-A | not specified | Uncertain significance (Apr 07, 2022) | ||
| 17-42301385-C-G | not specified | Uncertain significance (Jan 03, 2024) | ||
| 17-42304427-A-G | not specified | Uncertain significance (Dec 03, 2021) | ||
| 17-42304549-G-A | not specified | Uncertain significance (Dec 13, 2022) | ||
| 17-42304551-G-A | Esophageal atresia;Pyloric stenosis | Uncertain significance (May 22, 2019) | ||
| 17-42304635-C-T | not specified | Uncertain significance (Dec 28, 2023) | ||
| 17-42305701-C-G | not specified | Uncertain significance (Mar 31, 2024) | ||
| 17-42306295-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
| 17-42306296-C-T | not specified | Uncertain significance (Dec 22, 2023) | ||
| 17-42307407-C-G | not specified | Uncertain significance (Sep 22, 2022) | ||
| 17-42307455-G-A | not specified | Uncertain significance (Dec 28, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| STAT5A | protein_coding | protein_coding | ENST00000345506 | 18 | 24397 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.0000559 | 125734 | 0 | 13 | 125747 | 0.0000517 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.94 | 294 | 474 | 0.620 | 0.0000299 | 5220 |
| Missense in Polyphen | 74 | 145.29 | 0.50931 | 1581 | ||
| Synonymous | 1.16 | 181 | 202 | 0.896 | 0.0000131 | 1527 |
| Loss of Function | 5.69 | 4 | 45.4 | 0.0882 | 0.00000222 | 475 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000624 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000803 | 0.0000791 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000662 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Mediates cellular responses to the cytokine KITLG/SCF and other growth factors. Mediates cellular responses to ERBB4. May mediate cellular responses to activated FGFR1, FGFR2, FGFR3 and FGFR4. Binds to the GAS element and activates PRL-induced transcription. Regulates the expression of milk proteins during lactation. {ECO:0000269|PubMed:15534001}.;
- Pathway
- Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Necroptosis - Homo sapiens (human);Th17 cell differentiation - Homo sapiens (human);Th1 and Th2 cell differentiation - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Measles - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;JAK-STAT-Core;IL-5 Signaling Pathway;Prolactin Signaling Pathway;IL-7 Signaling Pathway;IL-9 Signaling Pathway;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;White fat cell differentiation;AGE-RAGE pathway;Adipogenesis;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;JAK-STAT;Hematopoietic Stem Cell Differentiation;IL-3 Signaling Pathway;Kit receptor signaling pathway;Rac1-Pak1-p38-MMP-2 pathway;Association Between Physico-Chemical Features and Toxicity Associated Pathways;IL-4 Signaling Pathway;TYROBP Causal Network;PDGFR-beta pathway;White fat cell differentiation;EGF-EGFR Signaling Pathway;IL-2 Signaling Pathway;EPO Receptor Signaling;Interferon type I signaling pathways;ErbB Signaling Pathway;Interleukin-7 signaling;Disease;IL-3 signaling;Signal Transduction;Signaling by Interleukins;mechanism of gene regulation by peroxisome proliferators via ppara;inhibition of cellular proliferation by gleevec;bioactive peptide induced signaling pathway;il 2 signaling pathway;il-7 signal transduction;Growth hormone receptor signaling;il-2 receptor beta chain in t cell activation;il22 soluble receptor signaling pathway;Prolactin receptor signaling;Prolactin;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;Signaling by PDGF;Growth hormone signaling;il 3 signaling pathway;Immune System;Interleukin-2 family signaling;IL5-mediated signaling events;KitReceptor;ErbB4 signaling events;IL-2 signaling;epo signaling pathway;IL-5 signaling;IL-7 signaling;tpo signaling pathway;EGFR1;growth hormone signaling pathway;Glucocorticoid receptor regulatory network;CXCR4-mediated signaling events;JAK STAT MolecularVariation 2;Signaling events mediated by TCPTP;JAK STAT pathway and regulation;PDGF;IL2;Signaling by Leptin;EPO signaling;IL3;IL2-mediated signaling events;Downstream signal transduction;Angiopoietin receptor Tie2-mediated signaling;Interleukin-2 signaling;EPO signaling pathway;Signaling by SCF-KIT;Signaling by FGFR in disease;IL5;Nuclear signaling by ERBB4;Signaling by ERBB4;IL6;TNFalpha;IL-7;Signaling by cytosolic FGFR1 fusion mutants;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;Signaling by Receptor Tyrosine Kinases;IL9;IL23-mediated signaling events;GMCSF-mediated signaling events;IL2 signaling events mediated by STAT5;IL27-mediated signaling events;RAC1 signaling pathway;CD40/CD40L signaling;Diseases of signal transduction;Validated nuclear estrogen receptor alpha network;Signaling events mediated by Stem cell factor receptor (c-Kit);Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;IL4-mediated signaling events;Signaling events mediated by PTP1B;IL3-mediated signaling events;IL12-mediated signaling events;TSLP;Interleukin-3, 5 and GM-CSF signaling
(Consensus)
Recessive Scores
- pRec
- 0.590
Intolerance Scores
- loftool
- 0.182
- rvis_EVS
- -0.64
- rvis_percentile_EVS
- 16.53
Haploinsufficiency Scores
- pHI
- 0.682
- hipred
- Y
- hipred_score
- 0.840
- ghis
- 0.541
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.964
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Stat5a
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; immune system phenotype; normal 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); reproductive system phenotype; hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- stat5a
- Affected structure
- nucleate erythrocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- positive regulation of endothelial cell proliferation;regulation of transcription by RNA polymerase II;JAK-STAT cascade;lactation;peptidyl-tyrosine phosphorylation;cytokine-mediated signaling pathway;taurine metabolic process;interleukin-15-mediated signaling pathway;interleukin-2-mediated signaling pathway;interleukin-7-mediated signaling pathway;interleukin-9-mediated signaling pathway;regulation of multicellular organism growth;positive regulation of blood vessel endothelial cell migration;JAK-STAT cascade involved in growth hormone signaling pathway
- Cellular component
- nucleoplasm;cytosol
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;protein tyrosine kinase activity;protein binding