chr5:68215741:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:67,511,569-67,597,649 |
| hg38 | chr5:68,215,741-68,301,821 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | squamous cell carcinoma | We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal... | BeFree | 25654238 | Detail |
| <0.001 | Carcinoma, Transitional Cell | NA | BeFree | Detail | |
| <0.001 | colitis | NA | BeFree | Detail | |
| 0.002 | Colonic Neoplasms | NA | GAD | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| <0.001 | diabetes mellitus | NA | BeFree | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.089 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,GAD,RGD | Detail | |
| <0.001 | Diabetic Nephropathy | Corroborating our findings from murine DN, the interaction of sXBP1 with p85α an... | BeFree | 25754093 | Detail |
| 0.004 | glioblastoma | NA | BeFree,LHGDN | Detail | |
| 0.002 | HIV Infections | NA | GAD | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | hyperglycemia | NA | BeFree | Detail | |
| 0.082 | Hypertensive disease | NA | GAD,RGD | Detail | |
| 0.080 | Hypertension, Portal | NA | BeFree,RGD | Detail | |
| 0.202 | Insulin resistance | NA | CTD_human,GAD,RGD | Detail | |
| <0.001 | ischemia | In this study, we examined the effect of Ginsenoside Rb1 (GRb1) on ischemia/repe... | BeFree | 25257523 | Detail |
| <0.001 | Transient ischemia | LY294002 not only mitigated the up-regulated protein level of phosphor Akt at Se... | BeFree | 25257523 | Detail |
| <0.001 | seborrheic keratosis | FGFR2, PIK3R1, and NRAS mutations obviously do not have a significant role in th... | BeFree | 23739246 | Detail |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | leukemia | In the present study, we have shown for the first time that HBA decreased the ex... | BeFree | 25299784 | Detail |
| <0.001 | lipodystrophy | PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Thauvin-Rob... | BeFree | 24033310 | Detail |
| <0.001 | Malignant neoplasm of stomach | Second, we choose the human gastric cancer cell lines MKN 45 as the target cell,... | BeFree | 25371568 | Detail |
| 0.120 | Animal Mammary Neoplasms | NA | CTD_human | Detail | |
| 0.120 | Mammary Neoplasms, Experimental | NA | CTD_human | Detail | |
| <0.001 | melanoma | Moreover, MET mutations were detected in 12% of Irish cases, whereas none of the... | BeFree | 25746038 | Detail |
| <0.001 | melanoma | Cell division cycle 6, CHEK1, E2F1, EGFR, and PIK3R1 of the module and their rel... | BeFree | 25983087 | Detail |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.082 | obesity | NA | GAD,RGD | Detail | |
| <0.001 | Ovarian Cysts | NA | BeFree | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.003 | periodontitis | NA | BeFree,GAD | Detail | |
| 0.003 | polycystic ovary syndrome | NA | BeFree,GAD | Detail | |
| <0.001 | polycythemia | NA | BeFree | Detail | |
| 0.006 | Prostatic Neoplasms | NA | BeFree,LHGDN | Detail | |
| 0.080 | Reperfusion Injury | NA | RGD | Detail | |
| <0.001 | Diabetes | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| 0.089 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| <0.001 | diabetes mellitus | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Acquired partial lipodystrophy | NA | BeFree | Detail | |
| 0.080 | X-linked agammaglobulinemia | NA | MGD | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Rieger syndrome | NA | BeFree | Detail | |
| <0.001 | gastric adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | juvenile myelomonocytic leukemia | Here, we show that the JMML-associated Cbl mutant in complex with the Src family... | BeFree | 24469048 | Detail |
| 0.003 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| <0.001 | Chorea Acanthocytosis Syndrome | NA | BeFree | Detail | |
| 0.089 | Diabetes Mellitus, Non-Insulin-Dependent | Met326Ile aminoacid polymorphism in the human p85 alpha gene has no major impact... | BeFree | 15523593 | Detail |
| 0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | Metabolic syndrome X | NA | BeFree | Detail | |
| <0.001 | Mood Disorders | NA | BeFree | Detail | |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.001 | breast carcinoma | In the present study, we have shown for the first time that HBA decreased the ex... | BeFree | 25299784 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | Second, we choose the human gastric cancer cell lines MKN 45 as the target cell,... | BeFree | 25371568 | Detail |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of kidney | PIK3R1 negatively regulates the epithelial-mesenchymal transition and stem-like ... | BeFree | 25757764 | Detail |
| <0.001 | Malignant Squamous Cell Neoplasm | We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal... | BeFree | 25654238 | Detail |
| 0.361 | SHORT syndrome | PIK3R1 mutations in SHORT syndrome. | BeFree,CLINVAR,ORPHANET,UNIPROT | 23980586 | Detail |
| 0.361 | SHORT syndrome | Autosomal dominant PIK3R1 mutations cause SHORT syndrome. | BeFree,CLINVAR,ORPHANET,UNIPROT | 24033310 | Detail |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Lipoatrophy | PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Thauvin-Rob... | BeFree | 24033310 | Detail |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | renal carcinoma | PIK3R1 negatively regulates the epithelial-mesenchymal transition and stem-like ... | BeFree | 25757764 | Detail |
| 0.011 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1 | Whole exome massively parallel sequencing-based mutation data from EECs of The C... | BeFree | 25701704 | Detail |
| 0.001 | uterine corpus cancer | NA | BeFree | Detail | |
| <0.001 | Urothelial Carcinoma | NA | BeFree | Detail | |
| 0.004 | liver carcinoma | Hence, we conclude that miR-486-5p, which is frequently downregulated in HCC, in... | BeFree,LHGDN | 25475121 | Detail |
| 0.004 | liver carcinoma | Phosphoinositide-3-kinase regulatory subunit 3 (PIK3R3) was identified as a dire... | BeFree,LHGDN | 25608840 | Detail |
| 0.004 | liver carcinoma | miR-128-3p suppresses hepatocellular carcinoma proliferation by regulating PIK3R... | BeFree,LHGDN | 25962360 | Detail |
| <0.001 | Nonalcoholic Steatohepatitis | NA | BeFree | Detail | |
| <0.001 | Rieger eye malformation sequence | NA | BeFree | Detail | |
| <0.001 | alcohol use disorder | NA | BeFree | Detail | |
| <0.001 | Alcoholic Intoxication, Chronic | NA | BeFree | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| <0.001 | asthma | Increased expression of phosphoinositide-3-kinase, regulatory subunit 1 (alpha) ... | BeFree | 25871513 | Detail |
| <0.001 | Astrocytoma | Furthermore, the miR-542-3p expression level negatively correlated with AKT acti... | BeFree | 26286747 | Detail |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of breast | In the present study, we have shown for the first time that HBA decreased the ex... | BeFree | 25299784 | Detail |
| 0.120 | Burkitt lymphoma | NA | CTD_human | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of endometrium | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | Overall, PIK3R1 down-regulation in RCC promotes propagation, migration, EMT and ... | BeFree | 25757764 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal squamous cell cance... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Corroborating our findings from murine DN, the interaction of sXBP1 with p85α and p85β is markedly i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this study, we examined the effect of Ginsenoside Rb1 (GRb1) on ischemia/reperfusion-induced auto... | DisGeNET | Detail |
| LY294002 not only mitigated the up-regulated protein level of phosphor Akt at Ser473 caused by GRb1,... | DisGeNET | Detail |
| FGFR2, PIK3R1, and NRAS mutations obviously do not have a significant role in the development of SK. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we have shown for the first time that HBA decreased the expression of phosphot... | DisGeNET | Detail |
| PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Thauvin-Robinet et al. | DisGeNET | Detail |
| Second, we choose the human gastric cancer cell lines MKN 45 as the target cell, which was co-cultur... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, MET mutations were detected in 12% of Irish cases, whereas none of the Belgian patients ha... | DisGeNET | Detail |
| Cell division cycle 6, CHEK1, E2F1, EGFR, and PIK3R1 of the module and their relative pathways, cell... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
| The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we show that the JMML-associated Cbl mutant in complex with the Src family kinase Lyn promotes... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Met326Ile aminoacid polymorphism in the human p85 alpha gene has no major impact on early insulin si... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we have shown for the first time that HBA decreased the expression of phosphot... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Second, we choose the human gastric cancer cell lines MKN 45 as the target cell, which was co-cultur... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PIK3R1 negatively regulates the epithelial-mesenchymal transition and stem-like phenotype of renal c... | DisGeNET | Detail |
| We genotyped five potentially functional PIK3R1 and mTOR SNPs in 1116 esophageal squamous cell cance... | DisGeNET | Detail |
| PIK3R1 mutations in SHORT syndrome. | DisGeNET | Detail |
| Autosomal dominant PIK3R1 mutations cause SHORT syndrome. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.Thauvin-Robinet et al. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| PIK3R1 negatively regulates the epithelial-mesenchymal transition and stem-like phenotype of renal c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Whole exome massively parallel sequencing-based mutation data from EECs of The Cancer Genome Atlas (... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Hence, we conclude that miR-486-5p, which is frequently downregulated in HCC, inhibits HCC progressi... | DisGeNET | Detail |
| Phosphoinositide-3-kinase regulatory subunit 3 (PIK3R3) was identified as a direct target of miR-511... | DisGeNET | Detail |
| miR-128-3p suppresses hepatocellular carcinoma proliferation by regulating PIK3R1 and is correlated ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Increased expression of phosphoinositide-3-kinase, regulatory subunit 1 (alpha) was confirmed in dep... | DisGeNET | Detail |
| Furthermore, the miR-542-3p expression level negatively correlated with AKT activity as well as leve... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the present study, we have shown for the first time that HBA decreased the expression of phosphot... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Overall, PIK3R1 down-regulation in RCC promotes propagation, migration, EMT and stem-like phenotype ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs386584794 dbSNP
- Genome
- hg38
- Position
- chr5:68,215,741-68,301,821
- Variant Type
- snv
Genome browser