PIK3R1
phosphoinositide-3-kinase regulatory subunit 1, the group of SH2 domain containing
Basic information
Region (hg38): 5:68215740-68301821
Links
Phenotypes
GenCC
Source:
- SHORT syndrome (Definitive), mode of inheritance: AD
- agammaglobulinemia 7, autosomal recessive (Definitive), mode of inheritance: AR
- SHORT syndrome (Strong), mode of inheritance: AD
- immunodeficiency 36 (Definitive), mode of inheritance: AD
- SHORT syndrome (Moderate), mode of inheritance: AD
- SHORT syndrome (Supportive), mode of inheritance: AD
- autosomal agammaglobulinemia (Supportive), mode of inheritance: AD
- activated PI3K-delta syndrome (Supportive), mode of inheritance: AD
- agammaglobulinemia 7, autosomal recessive (Strong), mode of inheritance: AR
- SHORT syndrome (Strong), mode of inheritance: AD
- immunodeficiency 36 (Strong), mode of inheritance: AD
- immunodeficiency 36 (Definitive), mode of inheritance: AD
- agammaglobulinemia 7, autosomal recessive (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoproliferation | AR | Allergy/Immunology/Infectious | Individuals may demonstrate susceptibility to severe infections (in addition to autoimmune-type sequelae in some conditions) and prophylactic measures (eg, including IVIG administration), as well as early and aggressive treatment of infections, has been reported as being beneficial | Allergy/Immunology/Infectious; Craniofacial; Dental; Endocrine; Musculoskeletal; Ophthalmologic | 7705412; 22351933; 23810378; 23810382; 25133428 |
ClinVar
This is a list of variants' phenotypes submitted to
- SHORT syndrome;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 (5 variants)
- Immunodeficiency 36 (4 variants)
- not provided (4 variants)
- Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome (3 variants)
- Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 (2 variants)
- Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome (2 variants)
- Neoplasm (2 variants)
- SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive (2 variants)
- Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive (2 variants)
- Malignant neoplasm of body of uterus (1 variants)
- not specified (1 variants)
- Vascular malformation (1 variants)
- Agammaglobulinemia 7, autosomal recessive (1 variants)
- Inborn genetic diseases (1 variants)
- See cases (1 variants)
- Inherited Immunodeficiency Diseases (1 variants)
- PIK3R1-related disorder (1 variants)
- Neoplasm of brain (1 variants)
- SHORT syndrome (1 variants)
- Neoplasm of the large intestine (1 variants)
- Vascular Malformations and Overgrowth (1 variants)
- Malignant melanoma of skin (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIK3R1 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 | 106 | 116 | ||||
| missense | 181 | 193 | ||||
| nonsense | 10 | |||||
| start loss | 0 | |||||
| frameshift | 12 | |||||
| inframe indel | 9 | |||||
| splice donor/acceptor (+/-2bp) | 14 | |||||
| splice region | 20 | 19 | 1 | 40 | ||
| non coding | 66 | 33 | 105 | |||
| Total | 22 | 21 | 204 | 176 | 36 |
Highest pathogenic variant AF is 0.0000131
Variants in PIK3R1
This is a list of pathogenic ClinVar variants found in the PIK3R1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 5-68226107-C-T | Likely benign (Jul 11, 2019) | |||
| 5-68226396-A-G | Likely benign (Jan 16, 2019) | |||
| 5-68226684-T-C | SHORT syndrome;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 | Likely benign (Sep 03, 2023) | ||
| 5-68226700-A-C | SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive | Likely benign (Sep 01, 2023) | ||
| 5-68226700-A-G | Uncertain significance (Mar 01, 2016) | |||
| 5-68226704-C-T | not specified • Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome | Uncertain significance (Mar 16, 2023) | ||
| 5-68226705-G-A | Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome • PIK3R1-related disorder | Likely benign (Apr 17, 2023) | ||
| 5-68226708-G-A | SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive | Likely benign (Jul 30, 2022) | ||
| 5-68226737-A-T | Uncertain significance (Oct 20, 2020) | |||
| 5-68226740-T-C | Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36;SHORT syndrome | Uncertain significance (Jul 14, 2023) | ||
| 5-68226762-A-G | Inborn genetic diseases | Uncertain significance (May 20, 2024) | ||
| 5-68226763-T-C | Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 | Likely benign (Feb 11, 2022) | ||
| 5-68226777-A-G | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Likely benign (Feb 21, 2023) | ||
| 5-68226779-G-C | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Sep 29, 2023) | ||
| 5-68226779-GG-AC | SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Sep 29, 2023) | ||
| 5-68226780-G-A | SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive | Likely benign (Oct 09, 2023) | ||
| 5-68226783-C-A | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Likely benign (Jul 26, 2019) | ||
| 5-68226794-T-C | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Sep 20, 2021) | ||
| 5-68226826-G-A | Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive;SHORT syndrome | Uncertain significance (Aug 30, 2022) | ||
| 5-68226832-A-G | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Nov 27, 2023) | ||
| 5-68226833-T-C | Inborn genetic diseases | Uncertain significance (Mar 07, 2024) | ||
| 5-68226837-C-T | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Likely benign (Sep 12, 2022) | ||
| 5-68226843-A-G | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Likely benign (Jul 07, 2023) | ||
| 5-68226845-A-G | SHORT syndrome;Immunodeficiency 36;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Jun 24, 2020) | ||
| 5-68226858-A-T | Immunodeficiency 36;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive | Uncertain significance (Mar 17, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PIK3R1 | protein_coding | protein_coding | ENST00000521381 | 15 | 86102 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000220 | 125736 | 0 | 11 | 125747 | 0.0000437 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.72 | 245 | 398 | 0.616 | 0.0000217 | 4763 |
| Missense in Polyphen | 72 | 168.14 | 0.42821 | 1944 | ||
| Synonymous | 1.56 | 125 | 149 | 0.838 | 0.00000843 | 1321 |
| Loss of Function | 5.61 | 5 | 46.1 | 0.108 | 0.00000283 | 506 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000615 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000626 | 0.0000615 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000333 | 0.0000327 |
| Other | 0.000335 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Binds to activated (phosphorylated) protein-Tyr kinases, through its SH2 domain, and acts as an adapter, mediating the association of the p110 catalytic unit to the plasma membrane. Necessary for the insulin-stimulated increase in glucose uptake and glycogen synthesis in insulin-sensitive tissues. Plays an important role in signaling in response to FGFR1, FGFR2, FGFR3, FGFR4, KITLG/SCF, KIT, PDGFRA and PDGFRB. Likewise, plays a role in ITGB2 signaling (PubMed:17626883, PubMed:19805105, PubMed:7518429). Modulates the cellular response to ER stress by promoting nuclear translocation of XBP1 isoform 2 in a ER stress- and/or insulin-dependent manner during metabolic overloading in the liver and hence plays a role in glucose tolerance improvement (PubMed:20348923). {ECO:0000269|PubMed:17626883, ECO:0000269|PubMed:19805105, ECO:0000269|PubMed:20348923, ECO:0000269|PubMed:7518429}.;
- Disease
- DISEASE: Agammaglobulinemia 7, autosomal recessive (AGM7) [MIM:615214]: A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:22351933}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: SHORT syndrome (SHORTS) [MIM:269880]: A rare, multisystem disease characterized by short stature, anomalies of the anterior chamber of the eye, characteristic facial features such as triangular facies, lack of facial fat, and hypoplastic nasal alae with overhanging columella, partial lipodystrophy, hernias, hyperextensibility, and delayed dentition. The clinical phenotype can include insulin resistance, nephrocalcinosis, and hearing deficits. Developmental milestones and cognition are normal. {ECO:0000269|PubMed:23810378, ECO:0000269|PubMed:23810379, ECO:0000269|PubMed:23810382}. Note=The disease is caused by mutations affecting the gene represented in this entry.; DISEASE: Immunodeficiency 36 (IMD36) [MIM:616005]: A primary immunodeficiency characterized by impaired B-cell function, hypogammaglobulinemia and recurrent infections. {ECO:0000269|PubMed:25133428}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Inflammatory mediator regulation of TRP channels - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Platelet activation - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Regulation of lipolysis in adipocytes - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Fc gamma R-mediated phagocytosis - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Melanoma - Homo sapiens (human);Type II diabetes mellitus - Homo sapiens (human);Insulin resistance - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);HIF-1 signaling pathway - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Influenza A - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Carbohydrate digestion and absorption - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);TNF signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Amoebiasis - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Axon guidance - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Chagas disease (American trypanosomiasis) - Homo sapiens (human);Toll-like receptor signaling pathway - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);Fluid shear stress and atherosclerosis - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phosphatidylinositol signaling system - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Bacterial invasion of epithelial cells - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Measles - Homo sapiens (human);Osteoclast differentiation - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics;Sorafenib Pharmacodynamics;Fc Epsilon Receptor I Signaling in Mast Cells;Phosphatidylinositol Phosphate Metabolism;Joubert syndrome;IL-5 Signaling Pathway;Androgen receptor signaling pathway;AMP-activated Protein Kinase (AMPK) Signaling;Regulation of toll-like receptor signaling pathway;MicroRNAs in cardiomyocyte hypertrophy;IL-1 signaling pathway;RANKL-RANK (Receptor activator of NFKB (ligand)) Signaling Pathway;Leptin signaling pathway;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Prolactin Signaling Pathway;IL-7 Signaling Pathway;IL-9 Signaling Pathway;Signaling Pathways in Glioblastoma;B Cell Receptor Signaling Pathway;Interleukin-11 Signaling Pathway;Oncostatin M Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Alpha 6 Beta 4 signaling pathway;Apoptosis;JAK-STAT;Bladder Cancer;IL-3 Signaling Pathway;nerve growth factor pathway (ngf);Kit receptor signaling pathway;Focal Adhesion;Rac1-Pak1-p38-MMP-2 pathway;Apoptotic Signaling Pathway;IL-6 signaling pathway;TGF-beta Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;IL-4 Signaling Pathway;VEGFA-VEGFR2 Signaling Pathway;Angiopoietin Like Protein 8 Regulatory Pathway;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Microglia Pathogen Phagocytosis Pathway;PDGFR-beta pathway;Interleukin-4 and 13 signaling;Endometrial cancer;PI3K-Akt Signaling Pathway;Ebola Virus Pathway on Host;MET in type 1 papillary renal cell carcinoma;Ebola Virus Pathway on Host;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Insulin Signaling;IL-2 Signaling Pathway;Regulation of Actin Cytoskeleton;Interferon type I signaling pathways;Notch Signaling Pathway;T-Cell antigen Receptor (TCR) Signaling Pathway;DNA Damage Response (only ATM dependent);Toll-like Receptor Signaling Pathway;Signaling by GPCR;Signaling by FGFR2;PI-3K cascade:FGFR2;Downstream signaling of activated FGFR2;PI-3K cascade:FGFR4;Antigen activates B Cell Receptor (BCR) leading to generation of second messengers;Notch;Interleukin-7 signaling;PI-3K cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;Downstream signaling of activated FGFR4;Signaling by Interleukins;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;inhibition of cellular proliferation by gleevec;mtor signaling pathway;bioactive peptide induced signaling pathway;role of erk5 in neuronal survival pathway;the co-stimulatory signal during t-cell activation;erk and pi-3 kinase are necessary for collagen binding in corneal epithelia;role of pi3k subunit p85 in regulation of actin organization and cell migration;human cytomegalovirus and map kinase pathways;influence of ras and rho proteins on g1 to s transition;egf signaling pathway;trefoil factors initiate mucosal healing;transcription factor creb and its extracellular signals;tumor suppressor arf inhibits ribosomal biogenesis;regulation of eif-4e and p70s6 kinase;il-7 signal transduction;il-2 receptor beta chain in t cell activation;akt signaling pathway;phospholipase c signaling pathway;ras signaling pathway;cxcr4 signaling pathway;corticosteroids and cardioprotection;phospholipids as signalling intermediaries;regulation of bad phosphorylation;multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation;pten dependent cell cycle arrest and apoptosis;vegf hypoxia and angiogenesis;b cell survival pathway;VEGFA-VEGFR2 Pathway;nfat and hypertrophy of the heart ;thrombin signaling and protease-activated receptors;ras-independent pathway in nk cell-mediated cytotoxicity;skeletal muscle hypertrophy is regulated via akt-mtor pathway;trka receptor signaling pathway;insulin signaling pathway;t cell receptor signaling pathway;rac1 cell motility signaling pathway;role of erbb2 in signal transduction and oncology;ctcf: first multivalent nuclear factor;Metabolism of lipids;Cytokine Signaling in Immune system;Alpha6Beta4Integrin;B cell receptor signaling;Downstream TCR signaling;TCR signaling;CD28 dependent PI3K/Akt signaling;CD28 co-stimulation;PI3K Cascade;Costimulation by the CD28 family;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Signaling by the B Cell Receptor (BCR);Signaling by PDGF;igf-1 signaling pathway;Role of phospholipids in phagocytosis;Fcgamma receptor (FCGR) dependent phagocytosis;HGF;Fc epsilon receptor (FCERI) signaling;TCR;Oncostatin_M;IGF signaling;Innate Immune System;Immune System;Metabolism;3-phosphoinositide biosynthesis;Ghrelin;FGF;Interleukin receptor SHC signaling;Interleukin-2 family signaling;IL5-mediated signaling events;Signaling by FGFR2 in disease;Adaptive Immune System;superpathway of inositol phosphate compounds;KitReceptor;insulin Mam;inactivation of gsk3 by akt causes accumulation of b-catenin in alveolar macrophages;GP1b-IX-V activation signalling;BCR;AndrogenReceptor;ErbB4 signaling events;actions of nitric oxide in the heart;pdgf signaling pathway;GPVI-mediated activation cascade;Signaling by EGFR;IL1;Platelet activation, signaling and aggregation;IL-7 signaling;tpo signaling pathway;Signaling by NTRK1 (TRKA);TGF_beta_Receptor;role of nicotinic acetylcholine receptors in the regulation of apoptosis;fc epsilon receptor i signaling in mast cells;control of skeletal myogenesis by hdac and calcium/calmodulin-dependent kinase (camk);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 Signaling;growth hormone signaling pathway;CXCR4-mediated signaling events;ErbB1 downstream signaling;Cell surface interactions at the vascular wall;Hemostasis;GAB1 signalosome;the igf-1 receptor and longevity;PI3K/AKT activation;BCR signaling pathway;Signaling events mediated by TCPTP;PIP3 activates AKT signaling;PDGF;IL2;VEGFR3 signaling in lymphatic endothelium;IL11;E-cadherin signaling in keratinocytes;EPO signaling;Signaling events regulated by Ret tyrosine kinase;IL3;a6b1 and a6b4 Integrin signaling;IL2-mediated signaling events;Gastrin;Downstream signal transduction;Ephrin B reverse signaling;Synthesis of PIPs at the plasma membrane;Class I PI3K signaling events;PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling;Negative regulation of the PI3K/AKT network;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;IFN-gamma pathway;Signaling by VEGF;Angiopoietin receptor Tie2-mediated signaling;PI Metabolism;IL4;EPO signaling pathway;Signaling by FGFR3 point mutants in cancer;Phospholipid metabolism;Signaling by FGFR4 in disease;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;G alpha (12/13) signalling events;Signaling by SCF-KIT;Signaling by FGFR in disease;Leptin;Constitutive Signaling by Aberrant PI3K in Cancer;PI3K events in ERBB2 signaling;Signaling by ERBB2;PI3K/AKT Signaling in Cancer;PI3K events in ERBB4 signaling;Signaling by ERBB4;IL6;IRS-related events triggered by IGF1R;IGF1R signaling cascade;TNFalpha;IL-7;MET activates PI3K/AKT signaling;Signaling by cytosolic FGFR1 fusion mutants;FGFR1 mutant receptor activation;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;VEGF;Nephrin family interactions;Cell-Cell communication;G alpha (q) signalling events;G beta:gamma signalling through PI3Kgamma;G-protein beta:gamma signalling;GPCR downstream signalling;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;ErbB2/ErbB3 signaling events;Intracellular signaling by second messengers;Osteopontin-mediated events;IL23-mediated signaling events;GMCSF-mediated signaling events;IL2 signaling events mediated by STAT5;Insulin Pathway;PAR1-mediated thrombin signaling events;Nectin adhesion pathway;Neurotrophic factor-mediated Trk receptor signaling;CD40/CD40L signaling;TRAIL signaling pathway;LPA receptor mediated events;Diseases of signal transduction;CDC42 signaling events;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);Fc-epsilon receptor I signaling in mast cells;Internalization of ErbB1;Netrin-mediated signaling events;N-cadherin signaling events;Signaling events mediated by focal adhesion kinase;IL2 signaling events mediated by PI3K;Reelin signaling pathway;CXCR3-mediated signaling events;p75(NTR)-mediated signaling;EPHB forward signaling;IGF1 pathway;Signaling events mediated by Stem cell factor receptor (c-Kit);Plasma membrane estrogen receptor signaling;FAS (CD95) signaling pathway;Nongenotropic Androgen signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;IL1-mediated signaling events;IL4-mediated signaling events;Signaling events mediated by PTP1B;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);EPHA2 forward signaling;Signaling events mediated by the Hedgehog family;IL6-mediated signaling events;FGF signaling pathway;Signaling events mediated by VEGFR1 and VEGFR2;Nephrin/Neph1 signaling in the kidney podocyte;PDGFR-alpha signaling pathway;IL3-mediated signaling events;Integrins in angiogenesis;Atypical NF-kappaB pathway;E-cadherin signaling in the nascent adherens junction;S1P2 pathway;VEGFR1 specific signals;CD4 T cell receptor signaling-NFkB cascade;Role of LAT2/NTAL/LAB on calcium mobilization;insulin;PI-3K cascade:FGFR1;Signaling by FGFR1;CD4 T cell receptor signaling;Regulation of signaling by CBL;Interleukin-3, 5 and GM-CSF signaling
(Consensus)
Recessive Scores
- pRec
- 0.867
Intolerance Scores
- loftool
- 0.295
- rvis_EVS
- -0.76
- rvis_percentile_EVS
- 13.45
Haploinsufficiency Scores
- pHI
- 0.888
- hipred
- Y
- hipred_score
- 0.685
- ghis
- 0.570
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.992
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pik3r1
- Phenotype
- immune system phenotype; liver/biliary 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; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); neoplasm; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- cellular glucose homeostasis;negative regulation of cell-matrix adhesion;protein phosphorylation;protein import into nucleus;epidermal growth factor receptor signaling pathway;G protein-coupled receptor signaling pathway;axon guidance;insulin receptor signaling pathway;extrinsic apoptotic signaling pathway via death domain receptors;intrinsic apoptotic signaling pathway in response to DNA damage;phosphatidylinositol 3-kinase signaling;positive regulation of phosphatidylinositol 3-kinase signaling;viral process;cytokine-mediated signaling pathway;platelet activation;B cell differentiation;positive regulation of cell migration;T cell costimulation;positive regulation of tumor necrosis factor production;cellular response to insulin stimulus;positive regulation of RNA splicing;cellular response to UV;response to endoplasmic reticulum stress;phosphatidylinositol-3-phosphate biosynthetic process;Fc-epsilon receptor signaling pathway;Fc-gamma receptor signaling pathway involved in phagocytosis;ERBB2 signaling pathway;positive regulation of protein import into nucleus;negative regulation of apoptotic process;regulation of phosphatidylinositol 3-kinase activity;negative regulation of osteoclast differentiation;positive regulation of transcription by RNA polymerase II;positive regulation of glucose import;regulation of insulin receptor signaling pathway;phosphatidylinositol phosphorylation;insulin-like growth factor receptor signaling pathway;vascular endothelial growth factor receptor signaling pathway;phosphatidylinositol-mediated signaling;protein stabilization;T cell receptor signaling pathway;leukocyte migration;regulation of stress fiber assembly;positive regulation of protein kinase B signaling;growth hormone receptor signaling pathway;positive regulation of endoplasmic reticulum unfolded protein response;positive regulation of protein localization to plasma membrane
- Cellular component
- nucleus;cytoplasm;cis-Golgi network;cytosol;plasma membrane;cell-cell junction;phosphatidylinositol 3-kinase complex;phosphatidylinositol 3-kinase complex, class IA;membrane;perinuclear endoplasmic reticulum membrane
- Molecular function
- phosphotyrosine residue binding;transmembrane receptor protein tyrosine kinase adaptor activity;insulin receptor binding;insulin-like growth factor receptor binding;neurotrophin TRKA receptor binding;protein binding;transcription factor binding;1-phosphatidylinositol-3-kinase activity;protein phosphatase binding;phosphatidylinositol 3-kinase regulator activity;phosphatidylinositol 3-kinase regulatory subunit binding;ErbB-3 class receptor binding;phosphatidylinositol 3-kinase binding;insulin binding;insulin receptor substrate binding;phosphatidylinositol-4,5-bisphosphate 3-kinase activity;1-phosphatidylinositol-3-kinase regulator activity;protein heterodimerization activity