chr3:142168077:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:142,168,077-142,297,575 |
| hg38 | chr3:142,449,235-142,578,733 |
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 | NA | BeFree | Detail | |
| <0.001 | Carcinoma, Transitional Cell | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of cervix | Correspondingly, our results revealed that miR-107 affected ATR/Chk1 signalling ... | BeFree | 25386925 | Detail |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| 0.005 | Colonic Neoplasms | NA | GAD,LHGDN | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.005 | DNA Damage | NA | GAD | Detail | |
| 0.002 | Endometrial Neoplasms | NA | GAD | Detail | |
| 0.004 | Fanconi anemia | NA | BeFree,LHGDN | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glioma | NA | BeFree | Detail | |
| <0.001 | IgA glomerulonephritis | NA | BeFree | Detail | |
| 0.003 | Herpes Simplex Infections | NA | LHGDN | Detail | |
| <0.001 | HIV Infections | DNA damage signaling proteins including ATR, ATM and BRCA1 contribute to multipl... | BeFree | 25879655 | Detail |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | Fibroid Tumor | NA | BeFree | Detail | |
| 0.003 | leukemia | Mechanism of the inhibition of leukemia cell growth and induction of apoptosis t... | BeFree,LHGDN | 26194899 | Detail |
| 0.006 | chronic lymphocytic leukemia | The MEC1 and MEC2 lines represent two CLL subclones in different stages of progr... | BeFree,GAD | 25162594 | Detail |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | prolymphocytic leukemia | The MEC1 and MEC2 lines represent two CLL subclones in different stages of progr... | BeFree | 25162594 | Detail |
| <0.001 | Leukemia, T-Cell | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| 0.003 | Mental Retardation | NA | BeFree | Detail | |
| 0.001 | microcephaly | NA | BeFree | Detail | |
| <0.001 | Microphthalmos | NA | BeFree | Detail | |
| 0.003 | myocardial infarction | NA | BeFree,GAD | Detail | |
| <0.001 | osteosarcoma | Together, these findings implicate Aven in ATR-Chk1 signalling and point towards... | BeFree | 25757065 | Detail |
| 0.001 | ovarian carcinoma | Cytogenetic analysis of 1143 ovarian cancers showed that the degree of genomic i... | BeFree | 25174396 | Detail |
| 0.005 | Pancreatic Neoplasm | NA | BeFree,GAD | Detail | |
| 0.120 | pneumoconiosis | NA | CTD_human | Detail | |
| <0.001 | Kaposi sarcoma | Kaposi sarcoma herpes virus latency associated nuclear antigen protein release t... | BeFree | 24972086 | Detail |
| <0.001 | Severe mental retardation (I.Q. 20-34) | NA | BeFree | Detail | |
| <0.001 | Tooth Crowding | NA | BeFree | Detail | |
| 0.120 | Urologic Neoplasms | NA | CTD_human | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| <0.001 | Werner syndrome | NA | BeFree | Detail | |
| <0.001 | T-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Epstein-Barr Virus Infections | NA | BeFree | Detail | |
| 0.002 | Left Ventricular Hypertrophy | NA | GAD | Detail | |
| <0.001 | Williams syndrome | NA | BeFree | Detail | |
| 0.002 | Carcinoma, Endometrioid | NA | GAD | Detail | |
| 0.007 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Isochromosomes | NA | BeFree | Detail | |
| 0.323 | Seckel syndrome | NA | BeFree,CTD_human,MGD,ORPHANET | Detail | |
| <0.001 | Turcot syndrome (disorder) | NA | BeFree | Detail | |
| <0.001 | dyskeratosis congenita | NA | BeFree | Detail | |
| <0.001 | Xeroderma pigmentosum, group A | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | Correspondingly, our results revealed that miR-107 affected ATR/Chk1 signalling ... | BeFree | 25386925 | Detail |
| <0.001 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | A synthetic lethal screen reveals enhanced sensitivity to ATR inhibitor treatmen... | BeFree | 25232030 | Detail |
| 0.003 | Nijmegen breakage syndrome | NA | BeFree,LHGDN | Detail | |
| <0.001 | primary microcephaly | NA | BeFree | Detail | |
| <0.001 | Alpha thalassemia-mental retardation syndrome | NA | BeFree | Detail | |
| <0.001 | Osteosarcoma of bone | Together, these findings implicate Aven in ATR-Chk1 signalling and point towards... | BeFree | 25757065 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.001 | Leukemogenesis | NA | BeFree | Detail | |
| 0.003 | Epithelial ovarian cancer | Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Protein... | BeFree,GAD | 26124337 | Detail |
| 0.001 | breast carcinoma | Untangling the ATR-CHEK1 network for prognostication, prediction and therapeutic... | BeFree | 25468710 | Detail |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Juberg-Marsidi syndrome | NA | BeFree | Detail | |
| 0.002 | Carcinoma, Pancreatic Ductal | NA | GAD | Detail | |
| 0.005 | Microsatellite Instability | NA | GAD | Detail | |
| 0.001 | Mental Retardation, X-Linked | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of ovary | Cytogenetic analysis of 1143 ovarian cancers showed that the degree of genomic i... | BeFree,GAD | 25174396 | Detail |
| <0.001 | pancreatic ductal adenocarcinoma | NA | BeFree | Detail | |
| 0.002 | alpha^+^ Thalassemia | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Pyothorax-Associated Lymphoma | NA | BeFree | Detail | |
| 0.002 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | NA | BeFree | Detail | |
| <0.001 | Methylmalonic aciduria cblB type | NA | BeFree | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | Our results indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8... | BeFree | 16195237 | Detail |
| <0.001 | Urothelial Carcinoma | NA | BeFree | Detail | |
| 0.001 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | We found that stress hormones induced DNA damage, phosphorylation of ATR, which ... | BeFree | 25880007 | Detail |
| 0.002 | alpha-Thalassemia | NA | BeFree | Detail | |
| 0.005 | Anoxia | NA | LHGDN | Detail | |
| <0.001 | arteriosclerosis | NA | BeFree | Detail | |
| 0.004 | ataxia telangiectasia | Using western blotting it was shown that GA inhibited the protein expressions of... | BeFree,LHGDN | 25862863 | Detail |
| <0.001 | atherosclerosis | NA | BeFree | Detail | |
| <0.001 | blepharophimosis | NA | BeFree | Detail | |
| <0.001 | Bloom syndrome | NA | BeFree | Detail | |
| <0.001 | Brain Diseases | NA | BeFree | Detail | |
| 0.018 | Malignant neoplasm of breast | Untangling the ATR-CHEK1 network for prognostication, prediction and therapeutic... | BeFree,GAD | 25468710 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Correspondingly, our results revealed that miR-107 affected ATR/Chk1 signalling and gene expression,... | 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 |
| DNA damage signaling proteins including ATR, ATM and BRCA1 contribute to multiple steps in the HIV-1... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Mechanism of the inhibition of leukemia cell growth and induction of apoptosis through the activatio... | DisGeNET | Detail |
| The MEC1 and MEC2 lines represent two CLL subclones in different stages of progression towards proly... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The MEC1 and MEC2 lines represent two CLL subclones in different stages of progression towards proly... | 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 |
| Together, these findings implicate Aven in ATR-Chk1 signalling and point towards Chk1 inhibition as ... | DisGeNET | Detail |
| Cytogenetic analysis of 1143 ovarian cancers showed that the degree of genomic instability was corre... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Kaposi sarcoma herpes virus latency associated nuclear antigen protein release the G2/M cell cycle b... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Correspondingly, our results revealed that miR-107 affected ATR/Chk1 signalling and gene expression,... | DisGeNET | Detail |
| A synthetic lethal screen reveals enhanced sensitivity to ATR inhibitor treatment in mantle cell lym... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Together, these findings implicate Aven in ATR-Chk1 signalling and point towards Chk1 inhibition as ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovar... | DisGeNET | Detail |
| Untangling the ATR-CHEK1 network for prognostication, prediction and therapeutic target validation i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Cytogenetic analysis of 1143 ovarian cancers showed that the degree of genomic instability was corre... | 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 indicate that SNPs in the NER genes ERCC1 (Asn118Asn, 15310G>C, 8902G>T), XPA (-4G... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We found that stress hormones induced DNA damage, phosphorylation of ATR, which was accompanied by a... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Using western blotting it was shown that GA inhibited the protein expressions of MDC1, O(6)-methylgu... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Untangling the ATR-CHEK1 network for prognostication, prediction and therapeutic target validation i... | DisGeNET | Detail |
| NA | 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
- rs386493716 dbSNP
- Genome
- hg19
- Position
- chr3:142,168,077-142,297,575
- Variant Type
- snv
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