chr1:15490832:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:15,817,327-15,851,221 |
| hg38 | chr1:15,490,832-15,524,726 |
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 |
|---|---|---|---|---|---|
| 0.120 | brain ischemia | NA | CTD_human | Detail | |
| 0.200 | Transient ischemic attack | NA | CTD_human,RGD | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | chordoma | NA | BeFree | Detail | |
| 0.002 | Congenital clubfoot | NA | GAD | Detail | |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.007 | Crohn Disease | NA | BeFree,GAD | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| 0.005 | Diabetes Mellitus, Non-Insulin-Dependent | NA | GAD | Detail | |
| <0.001 | Down syndrome | Cell senescence was found to appear prematurely in DS cells as shown by SA-β-Gal... | BeFree | 25852816 | Detail |
| 0.120 | Edema | NA | CTD_human | Detail | |
| 0.080 | Experimental Autoimmune Encephalomyelitis | NA | RGD | Detail | |
| <0.001 | Bacterial Endocarditis | NA | BeFree | Detail | |
| 0.003 | glioblastoma | NA | BeFree,LHGDN | Detail | |
| 0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | Graves Disease | NA | BeFree | Detail | |
| 0.080 | Heart Diseases | NA | RGD | Detail | |
| <0.001 | hepatitis C | NA | BeFree | Detail | |
| <0.001 | Herpes Simplex Infections | NA | BeFree | Detail | |
| <0.001 | HIV Infections | Moreover, we observed an HIV-1 PR concentration-dependent decrease in mitochondr... | BeFree | 24886575 | Detail |
| <0.001 | HIV Infections | These data suggest that HIV-1 causes a mitochondrial initiated apoptotic cascade... | BeFree | 25329893 | Detail |
| <0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | keratoconus | NA | BeFree | Detail | |
| 0.003 | chronic lymphocytic leukemia | NA | BeFree,GAD | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | Moreover, the apoptotic induction in AML cells was associated with the activatio... | BeFree | 25174432 | Detail |
| 0.005 | Myeloid Leukemia, Chronic | NA | GAD | Detail | |
| 0.002 | Liver diseases | NA | GAD | Detail | |
| <0.001 | Low Back Pain | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| 0.009 | Lung Neoplasms | We have adapted a suicide system based on an inducible caspase-9 (iC9) protein t... | BeFree,LHGDN | 25323693 | Detail |
| 0.002 | Lymphatic Metastasis | NA | GAD | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.008 | Lymphoma, Non-Hodgkin | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.080 | Mammary Neoplasms, Experimental | NA | RGD | Detail | |
| <0.001 | Mastocytoma | NA | BeFree | Detail | |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| 0.002 | melanoma | NA | BeFree | Detail | |
| 0.003 | multiple myeloma | NA | BeFree,GAD | Detail | |
| 0.003 | multiple sclerosis | NA | BeFree,GAD | Detail | |
| 0.120 | Myocardial Reperfusion Injury | NA | CTD_human | Detail | |
| 0.002 | Pathologic Neovascularization | NA | GAD | Detail | |
| 0.120 | nervous system disorder | NA | CTD_human | Detail | |
| 0.005 | neuroblastoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | osteosarcoma | Our results also showed that CYC1 silencing significantly reduces complex III ac... | BeFree | 25562155 | Detail |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| 0.002 | Pancreatic Neoplasm | NA | GAD | Detail | |
| 0.003 | Parkinson disease | NA | LHGDN | Detail | |
| 0.120 | Peripheral neuropathy | NA | CTD_human | Detail | |
| 0.123 | Prostatic Neoplasms | NA | BeFree,CTD_human,GAD | Detail | |
| 0.080 | Reperfusion Injury | NA | RGD | Detail | |
| 0.120 | retinal detachment | NA | CTD_human | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| 0.002 | Stomach Neoplasms | NA | GAD | Detail | |
| <0.001 | Cerebrovascular accident | NA | BeFree | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.080 | varicocele | NA | RGD | Detail | |
| <0.001 | B-Cell Lymphomas | TRIM62 loss was associated with altered expression of proteins involved in leuke... | BeFree | 25248926 | Detail |
| 0.003 | diffuse large B-cell lymphoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of mouth | Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-in... | BeFree | 25105148 | Detail |
| <0.001 | Secondary malignant neoplasm of bone | NA | BeFree | Detail | |
| <0.001 | Liver Failure, Acute | NA | BeFree | Detail | |
| <0.001 | Germ cell tumor | NA | BeFree | Detail | |
| <0.001 | cholangiocarcinoma | NA | BeFree | Detail | |
| <0.001 | Lip and oral cavity carcinoma | Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-in... | BeFree | 25105148 | Detail |
| <0.001 | Lumbar disc disease | NA | BeFree | Detail | |
| <0.001 | Fibrillation | Immunohistochemical analysis showed expression of cleaved caspase-9, an effector... | BeFree | 26004742 | Detail |
| <0.001 | pancreatic carcinoma | Apoptosis, caspase activity, and cytokine production (IL-6, IL-10, TNF-β, and IF... | BeFree | 25725585 | Detail |
| 0.002 | Gastrointestinal Stromal Tumors | NA | GAD | Detail | |
| 0.014 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | 5,10-Methylenetetrahydrofolate reductase deficiency | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of esophagus | Apollon knockdown also enhanced cisplatin/docetaxel-induced activation of caspas... | BeFree | 25216531 | Detail |
| 0.003 | Adenocarcinoma Of Esophagus | NA | BeFree,GAD | Detail | |
| <0.001 | Acute Undifferentiated Leukemia | TRIM62 loss was associated with altered expression of proteins involved in leuke... | BeFree | 25248926 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | mast cell neoplasm | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | Apoptosis, caspase activity, and cytokine production (IL-6, IL-10, TNF-β, and IF... | BeFree | 25725585 | Detail |
| <0.001 | Squamous cell carcinoma of tongue | In addition, cantharidin induced cell apoptosis and activated caspase-9/3 activi... | BeFree | 25962755 | Detail |
| 0.005 | Malignant neoplasm of prostate | Bcl-2 family inhibition sensitizes human prostate cancer cells to docetaxel and ... | BeFree,GAD | 25333266 | Detail |
| <0.001 | Slow channel syndrome | NA | BeFree | Detail | |
| 0.003 | Neurodegenerative Disorders | NA | BeFree,LHGDN | Detail | |
| <0.001 | Osteosarcoma of bone | Our results also showed that CYC1 silencing significantly reduces complex III ac... | BeFree | 25562155 | Detail |
| 0.002 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| 0.003 | prostate carcinoma | Bcl-2 family inhibition sensitizes human prostate cancer cells to docetaxel and ... | BeFree | 25333266 | Detail |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| 0.002 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| 0.002 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Aicardi-Goutieres syndrome 1 | NA | BeFree | Detail | |
| <0.001 | malignant pleural mesothelioma | Sequential treatments resulted in a significant increase of CASP9 mRNA expressio... | BeFree | 25028262 | Detail |
| <0.001 | Acute coronary syndrome | NA | BeFree | Detail | |
| <0.001 | West Nile viral infection | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Precursor B-cell lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | Undifferentiated leukemia | TRIM62 loss was associated with altered expression of proteins involved in leuke... | BeFree | 25248926 | Detail |
| 0.003 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
| 0.004 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | infective endocarditis | NA | BeFree | Detail | |
| <0.001 | Leukemia, B-Cell | NA | BeFree | Detail | |
| 0.003 | liver carcinoma | NA | BeFree,LHGDN | Detail | |
| <0.001 | benign mastocytoma | NA | BeFree | Detail | |
| 0.005 | Infection | NA | LHGDN | Detail | |
| 0.003 | liver carcinoma | Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... | BeFree | 16109524 | Detail |
| 0.010 | adenocarcinoma | NA | BeFree,GAD,LHGDN | Detail | |
| 0.080 | amyotrophic lateral sclerosis | NA | RGD | Detail | |
| 0.003 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | arteriosclerosis | The mRNA expression of CASP3 was found to be steadily decreasing with the progre... | BeFree | 25962658 | Detail |
| <0.001 | ataxia telangiectasia | NA | BeFree | Detail | |
| <0.001 | atherosclerosis | The mRNA expression of CASP3 was found to be steadily decreasing with the progre... | BeFree | 25962658 | Detail |
| 0.006 | Malignant neoplasm of urinary bladder | NA | BeFree,GAD | Detail | |
| <0.001 | Blast Phase | NA | BeFree | Detail | |
| 0.002 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| 0.002 | Non-small cell lung carcinoma | Bortezomib sensitizes non-small cell lung cancer to mesenchymal stromal cell-del... | BeFree | 25323693 | Detail |
| 0.002 | Non-small cell lung carcinoma | Matrine caused apoptotic death in the cisplatin-resistant NSCLC cells, coupled w... | BeFree | 25760455 | Detail |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| 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 |
| Cell senescence was found to appear prematurely in DS cells as shown by SA-β-Gal assay and p21 asses... | 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 |
| Moreover, we observed an HIV-1 PR concentration-dependent decrease in mitochondrial membrane potenti... | DisGeNET | Detail |
| These data suggest that HIV-1 causes a mitochondrial initiated apoptotic cascade, which signal throu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Moreover, the apoptotic induction in AML cells was associated with the activation of caspase cascade... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have adapted a suicide system based on an inducible caspase-9 (iC9) protein that is activated usi... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results also showed that CYC1 silencing significantly reduces complex III activity and potentiat... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeos... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-inhibiting and apoptos... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Cobalt chloride (CoCl2), a HIF-1α activator, attenuated the IK-induced growth-inhibiting and apoptos... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Immunohistochemical analysis showed expression of cleaved caspase-9, an effector of the mitochondria... | DisGeNET | Detail |
| Apoptosis, caspase activity, and cytokine production (IL-6, IL-10, TNF-β, and IFN-γ) of T cells co-c... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Apollon knockdown also enhanced cisplatin/docetaxel-induced activation of caspase-8 (extrinsic pathw... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeos... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Apoptosis, caspase activity, and cytokine production (IL-6, IL-10, TNF-β, and IFN-γ) of T cells co-c... | DisGeNET | Detail |
| In addition, cantharidin induced cell apoptosis and activated caspase-9/3 activities of TSCC Tca8113... | DisGeNET | Detail |
| Bcl-2 family inhibition sensitizes human prostate cancer cells to docetaxel and promotes unexpected ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results also showed that CYC1 silencing significantly reduces complex III activity and potentiat... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bcl-2 family inhibition sensitizes human prostate cancer cells to docetaxel and promotes unexpected ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Sequential treatments resulted in a significant increase of CASP9 mRNA expression in MSTO-211H cells... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| TRIM62 loss was associated with altered expression of proteins involved in leukemia stem cell homeos... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->G, 6 of polymorphism... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The mRNA expression of CASP3 was found to be steadily decreasing with the progression of atheroscler... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The mRNA expression of CASP3 was found to be steadily decreasing with the progression of atheroscler... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Bortezomib sensitizes non-small cell lung cancer to mesenchymal stromal cell-delivered inducible cas... | DisGeNET | Detail |
| Matrine caused apoptotic death in the cisplatin-resistant NSCLC cells, coupled with loss of ΔΨm and ... | 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
- -
- dbSNP
- rs3218170 dbSNP
- Genome
- hg38
- Position
- chr1:15,490,832-15,524,726
- Variant Type
- snv
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