chr1:243651535:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:243,651,535-244,014,381 |
| hg38 | chr1:243,488,233-243,851,079 |
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 |
|---|---|---|---|---|---|
| 0.003 | squamous cell carcinoma | NA | LHGDN | Detail | |
| <0.001 | carotid artery thrombosis | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | glioblastoma | Knockdown of the AKT3 (PKBγ), PI3KCA, and VEGFR2 genes by RNA interference suppr... | BeFree | 25501707 | Detail |
| <0.001 | Glioma | Genomically amplified Akt3 activates DNA repair pathway and promotes glioma prog... | BeFree | 25737557 | Detail |
| 0.003 | Cardiomegaly | NA | LHGDN | Detail | |
| 0.002 | HIV Infections | NA | GAD | Detail | |
| <0.001 | hypoglycemia | NA | BeFree | Detail | |
| 0.011 | melanoma | Nevertheless, most melanomas carried additional oncogenic mutations at baseline ... | BeFree,LHGDN | 25452114 | Detail |
| 0.001 | microcephaly | This is also the first report to suggest that (1) AKT3 deletion is associated wi... | BeFree | 25424989 | Detail |
| 0.002 | multiple sclerosis | NA | GAD | Detail | |
| 0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Prostatic Neoplasms | NA | BeFree | Detail | |
| <0.001 | sarcoidosis | NA | BeFree | Detail | |
| 0.120 | schizophrenia | NA | GWASCAT | Detail | |
| <0.001 | Seizures | NA | BeFree | Detail | |
| 0.002 | Thyroid Neoplasm | NA | GAD | Detail | |
| <0.001 | tuberous sclerosis | Over the past decade enhanced activation of the mammalian target of rapamycin (m... | BeFree | 25833943 | Detail |
| <0.001 | Alcohol abuse | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | Expression of total Akt, Akt2 and Akt3 were frequently observed in small cell ca... | BeFree | 25855050 | Detail |
| <0.001 | Cutaneous Melanoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | NA | BeFree | Detail | |
| <0.001 | uterine cancer | NA | BeFree | Detail | |
| <0.001 | Agenesis of corpus callosum | NA | BeFree | Detail | |
| <0.001 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | NA | BeFree | Detail | |
| <0.001 | Macrocephaly | Sudden death in a case of megalencephaly capillary malformation associated with ... | BeFree | 25416470 | Detail |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Carcinoma, Small Cell | Expression of total Akt, Akt2 and Akt3 were frequently observed in small cell ca... | BeFree | 25855050 | Detail |
| <0.001 | Congenital anomaly of brain | NA | BeFree | Detail | |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| <0.001 | Capillary malformation (disorder) | Sudden death in a case of megalencephaly capillary malformation associated with ... | BeFree | 25416470 | Detail |
| <0.001 | Malonic aciduria | Over the past decade enhanced activation of the mammalian target of rapamycin (m... | BeFree | 25833943 | Detail |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | NA | BeFree | Detail | |
| <0.001 | Cortical Dysplasia | Over the past decade enhanced activation of the mammalian target of rapamycin (m... | BeFree | 25833943 | Detail |
| 0.121 | Hemimegalencephaly | The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is... | BeFree,ORPHANET | 25451314 | Detail |
| <0.001 | Malignant glioma | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | A higher prevalence of AKT-3 copy number gains was observed in TNBC [26% (21/82)... | BeFree | 24138071 | Detail |
| 0.003 | ovarian neoplasm | NA | BeFree,LHGDN | Detail | |
| <0.001 | Tauopathies | The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is... | BeFree | 25451314 | Detail |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| 0.003 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Xenograft Model | Characterization of the effects of constitutively active form of each Akt subtyp... | BeFree | 24942865 | Detail |
| <0.001 | Glioblastoma multiforme | Knockdown of the AKT3 (PKBγ), PI3KCA, and VEGFR2 genes by RNA interference suppr... | BeFree | 25501707 | Detail |
| <0.001 | Macular dystrophy, corneal type 1 | Over the past decade enhanced activation of the mammalian target of rapamycin (m... | BeFree | 25833943 | Detail |
| <0.001 | androgen independent prostate cancer | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Dysmorphism | This is also the first report to suggest that (1) AKT3 deletion is associated wi... | BeFree | 25424989 | Detail |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | BeFree | Detail | |
| 0.120 | Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome | NA | CTD_human | Detail | |
| 0.120 | Malformations of Cortical Development | Over the past decade enhanced activation of the mammalian target of rapamycin (m... | BeFree,CTD_human | 25833943 | Detail |
| 0.001 | liver carcinoma | In conclusion, the results of the present study suggest that miR‑144 may act as ... | BeFree | 25370363 | Detail |
| 0.001 | liver carcinoma | Our previous study identified AKT1, AKT2 and AKT3 as unfavorable prognostic fact... | BeFree | 25424347 | Detail |
| <0.001 | Macroencephaly | Sudden death in a case of megalencephaly capillary malformation associated with ... | BeFree | 25416470 | Detail |
| <0.001 | Triple Negative Breast Neoplasms | Investigation of molecular alterations of AKT-3 in triple-negative breast cancer... | BeFree | 24138071 | Detail |
| <0.001 | intellectual disability | This is also the first report to suggest that (1) AKT3 deletion is associated wi... | BeFree | 25424989 | Detail |
| 0.120 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | NA | UNIPROT | Detail | |
| <0.001 | Congenital Abnormality | This is also the first report to suggest that (1) AKT3 deletion is associated wi... | BeFree | 25424989 | Detail |
| 0.002 | papillary adenocarcinoma | NA | GAD | Detail | |
| <0.001 | amyotrophic lateral sclerosis | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of breast | A higher prevalence of AKT-3 copy number gains was observed in TNBC [26% (21/82)... | BeFree | 24138071 | Detail |
| <0.001 | Non-small cell lung carcinoma | Collectively, these data suggest a novel function of Akt3 as a negative regulato... | BeFree | 24942865 | Detail |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Knockdown of the AKT3 (PKBγ), PI3KCA, and VEGFR2 genes by RNA interference suppresses glioblastoma m... | DisGeNET | Detail |
| Genomically amplified Akt3 activates DNA repair pathway and promotes glioma progression. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Nevertheless, most melanomas carried additional oncogenic mutations at baseline (for example, RAC1 a... | DisGeNET | Detail |
| This is also the first report to suggest that (1) AKT3 deletion is associated with microcephaly and ... | 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 |
| Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling casca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of total Akt, Akt2 and Akt3 were frequently observed in small cell carcinoma, but phospho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Expression of total Akt, Akt2 and Akt3 were frequently observed in small cell carcinoma, but phospho... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation i... | DisGeNET | Detail |
| Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling casca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling casca... | DisGeNET | Detail |
| The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutan... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A higher prevalence of AKT-3 copy number gains was observed in TNBC [26% (21/82)] than in ER-positiv... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The prototype infantile tauopathy is (1) hemimegalencephaly (HME); normal tau is degraded by a mutan... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Characterization of the effects of constitutively active form of each Akt subtype (HA-Akt-DD) on IGF... | DisGeNET | Detail |
| Knockdown of the AKT3 (PKBγ), PI3KCA, and VEGFR2 genes by RNA interference suppresses glioblastoma m... | DisGeNET | Detail |
| Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling casca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is also the first report to suggest that (1) AKT3 deletion is associated with microcephaly and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling casca... | DisGeNET | Detail |
| In conclusion, the results of the present study suggest that miR‑144 may act as a tumor suppressor i... | DisGeNET | Detail |
| Our previous study identified AKT1, AKT2 and AKT3 as unfavorable prognostic factors for patients wit... | DisGeNET | Detail |
| Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation i... | DisGeNET | Detail |
| Investigation of molecular alterations of AKT-3 in triple-negative breast cancer. | DisGeNET | Detail |
| This is also the first report to suggest that (1) AKT3 deletion is associated with microcephaly and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This is also the first report to suggest that (1) AKT3 deletion is associated with microcephaly and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A higher prevalence of AKT-3 copy number gains was observed in TNBC [26% (21/82)] than in ER-positiv... | DisGeNET | Detail |
| Collectively, these data suggest a novel function of Akt3 as a negative regulator of IGFBP-3, indica... | DisGeNET | Detail |
| NA | 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
- -
- Genome
- hg19
- Position
- chr1:243,651,535-244,014,381
- Variant Type
- snv
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