chr1:120454176:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:120,454,176-120,612,276 |
| hg38 | chr1:119,911,553-120,069,662 |
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 | Cardiovascular Diseases | NA | BeFree | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| 0.120 | Uterine Cervical Neoplasm | NA | CTD_human | Detail | |
| <0.001 | cholestasis | Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutat... | BeFree | 25016221 | Detail |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Colorectal Neoplasms | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | Diabetes | NA | BeFree | Detail | |
| 0.005 | diabetes mellitus | NA | BeFree,GAD | Detail | |
| 0.293 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,CTD_human,GAD,GWASCAT | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| 0.003 | encephalitis | NA | LHGDN | Detail | |
| <0.001 | glaucoma | Transgenic mice overexpressing Notch2 in the uvea exhibit a hyperplastic ciliary... | BeFree | 25902091 | Detail |
| 0.121 | glioblastoma | In order to determine the expression of Notch 2 and to evaluate its possible pro... | BeFree,CTD_human | 25338527 | Detail |
| 0.005 | Glioma | Short hairpin RNA targeting Notch2 inhibits U87 human glioma cell proliferation ... | BeFree,LHGDN | 25323114 | Detail |
| 0.005 | Glioma | Interference of Notch 2 inhibits the progression of gliomas and induces cell apo... | BeFree,LHGDN | 25338527 | Detail |
| 0.005 | Glioma | Taken together, the present study showed that miR-181c can be considered a valua... | BeFree,LHGDN | 25494473 | Detail |
| <0.001 | glomus tumor | NA | BeFree | Detail | |
| <0.001 | hepatitis C | NOTCH2 mutations were detected in 9 of 46 (20%) hepatitis C virus-positive patie... | BeFree | 25381127 | Detail |
| 0.002 | HIV Infections | NA | GAD | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.005 | chronic lymphocytic leukemia | NA | BeFree,LHGDN | Detail | |
| <0.001 | hairy cell leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | leukopenia | NA | BeFree | Detail | |
| 0.120 | Lung Neoplasms | NA | CTD_human | Detail | |
| 0.004 | lymphoma | The Notch2 is a critical membrane receptor for B-cell functions, and also displa... | BeFree,LHGDN | 25314575 | Detail |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | medulloblastoma | NA | BeFree | Detail | |
| <0.001 | meningioma | NA | BeFree | Detail | |
| <0.001 | Mesothelioma | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| <0.001 | neutropenia | NA | BeFree | Detail | |
| 0.005 | obesity | NA | GAD | Detail | |
| 0.003 | oligodendroglioma | NA | BeFree,LHGDN | Detail | |
| <0.001 | osteoporosis | NA | BeFree | Detail | |
| <0.001 | plague | Based on these results, we conclude that the Notch2 receptor with PEST domain tr... | BeFree | 25314575 | Detail |
| <0.001 | plague | HCS is associated with mutations in exon 34 of NOTCH2 upstream the PEST domain t... | BeFree | 25491639 | Detail |
| 0.080 | pre-eclampsia | NA | MGD | Detail | |
| <0.001 | Precancerous Conditions | NA | BeFree | Detail | |
| <0.001 | psoriasis | NA | BeFree | Detail | |
| <0.001 | retinoblastoma | The data demonstrated that the expression of P21, cyclin D and phosphorylated re... | BeFree | 25338527 | Detail |
| 0.005 | schizophrenia | NA | GAD | Detail | |
| <0.001 | seminoma | NA | BeFree | Detail | |
| <0.001 | tetralogy of Fallot | We used primary cells derived from the RV of infants with TOF to show a direct l... | BeFree | 25916634 | Detail |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | Uterine Fibroids | NA | BeFree | Detail | |
| <0.001 | Vascular Diseases | NA | BeFree | Detail | |
| <0.001 | B-Cell Lymphomas | The truncate Notch2 activated both the Notch2 and the NF-κB signals and promoted... | BeFree | 25314575 | Detail |
| <0.001 | diffuse large B-cell lymphoma | The truncate mutation of Notch2 enhances cell proliferation through activating t... | BeFree | 25314575 | Detail |
| 0.125 | Alagille syndrome | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | Adenocarcinoma of lung (disorder) | NA | BeFree | Detail | |
| 0.120 | Neuroectodermal Tumor, Primitive | NA | CTD_human | Detail | |
| <0.001 | cholangiocarcinoma | NA | BeFree | Detail | |
| <0.001 | Pseudolymphoma | NA | BeFree | Detail | |
| <0.001 | Renal Cell Dysplasia | NA | BeFree | Detail | |
| <0.001 | Medullary carcinoma of thyroid | NA | BeFree | Detail | |
| 0.002 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | GAD | Detail | |
| <0.001 | Disorder of skeletal system | NA | BeFree | Detail | |
| <0.001 | Congenital anomaly of the kidney | NA | BeFree | Detail | |
| <0.001 | Liver cyst | NA | BeFree | Detail | |
| <0.001 | Simple renal cyst | NA | BeFree | Detail | |
| <0.001 | Usher syndrome | NA | BeFree | Detail | |
| <0.001 | gastric adenocarcinoma | NA | BeFree | Detail | |
| 0.120 | Squamous cell carcinoma of esophagus | NA | CTD_human | Detail | |
| <0.001 | cervical adenocarcinoma | MicroRNA expression profiling and Notch1 and Notch2 expression in minimal deviat... | BeFree | 25381598 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | anaplastic astrocytoma | NA | BeFree | Detail | |
| <0.001 | anaplastic oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | NA | BeFree | Detail | |
| <0.001 | Glaucoma, Primary Open Angle | Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma. | BeFree | 25902091 | Detail |
| <0.001 | malignant mesothelioma | NA | BeFree | Detail | |
| <0.001 | Splenic Marginal Zone B-Cell Lymphoma | NA | BeFree | Detail | |
| <0.001 | Thyroid carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | In conclusion, this is the first study characterizing the in vivo functions of N... | BeFree | 24509876 | Detail |
| 0.002 | breast carcinoma | Notch2 activation is protective against anticancer effects of zerumbone in human... | BeFree | 25038880 | Detail |
| 0.002 | breast carcinoma | The Notch pathway was potentially activated by mutations of NOTCH1 and NOTCH2 in... | BeFree | 25591616 | Detail |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | Here, we show that missense mutations in NOTCH1 and NOTCH2 found in human bladde... | BeFree | 25574842 | Detail |
| <0.001 | airway disease | We conclude that inhibition of Notch2 prevents goblet cell metaplasia induced by... | BeFree | 25558064 | Detail |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | biliary tract cancer | NA | BeFree | Detail | |
| <0.001 | Well Differentiated Oligodendroglioma | NA | BeFree | Detail | |
| <0.001 | Aicardi-Goutieres syndrome 1 | NA | BeFree | Detail | |
| <0.001 | Hyperkeratosis | NA | BeFree | Detail | |
| 0.363 | Hajdu-Cheney syndrome | Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome ... | BeFree,CLINVAR,CTD_human,ORPHANET | 24995648 | Detail |
| 0.363 | Hajdu-Cheney syndrome | In conclusion, Notch regulates skeletal development and bone remodeling, and gai... | BeFree,CLINVAR,CTD_human,ORPHANET | 25491639 | Detail |
| 0.363 | Hajdu-Cheney syndrome | A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome... | BeFree,CLINVAR,CTD_human,ORPHANET | 25696021 | Detail |
| <0.001 | Intraductal papillary-mucinous adenoma | Notch2 family expressions were higher in intraductal papillary mucinous carcinom... | BeFree | 25041344 | Detail |
| <0.001 | Myofibroma (morphologic abnormality) | NA | BeFree | Detail | |
| <0.001 | Single tumor | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia/small lymphocytic lymphoma | NA | BeFree | Detail | |
| <0.001 | Solitary Myofibromatosis | NA | BeFree | Detail | |
| 0.129 | Mammary Neoplasms | NA | BeFree,CTD_human,LHGDN | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 | NA | BeFree | Detail | |
| 0.001 | Serpentine fibula polycystic kidney syndrome | Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome ... | BeFree | 24995648 | Detail |
| 0.001 | Serpentine fibula polycystic kidney syndrome | We speculate that HCS and SFPKS are a single disease entity with a wide spectrum... | BeFree | 25696021 | Detail |
| 0.003 | liver carcinoma | NA | BeFree,LHGDN | Detail | |
| 0.120 | Acroosteolysis dominant type | NA | ORPHANET | Detail | |
| <0.001 | Renal dysplasia | NA | BeFree | Detail | |
| <0.001 | renal tubular acidosis | NA | BeFree | Detail | |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | ameloblastoma | NA | BeFree | Detail | |
| <0.001 | Anaplasia | NA | BeFree | Detail | |
| 0.003 | arthritis | NA | LHGDN | Detail | |
| 0.120 | Astrocytoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | Barrett esophagus | Affymetrix gene expression microarray revealed that BE samples express decreased... | BeFree | 25558829 | Detail |
| <0.001 | Malignant neoplasm of urinary bladder | Here, we show that missense mutations in NOTCH1 and NOTCH2 found in human bladde... | BeFree | 25574842 | Detail |
| <0.001 | Brain Neoplasms | The results of the present study provide further insights into the effects of No... | BeFree | 25338527 | Detail |
| 0.004 | Malignant neoplasm of breast | Notch2 activation is protective against anticancer effects of zerumbone in human... | BeFree,GAD | 25038880 | Detail |
| 0.004 | Malignant neoplasm of breast | The Notch pathway was potentially activated by mutations of NOTCH1 and NOTCH2 in... | BeFree,GAD | 25591616 | Detail |
| <0.001 | Burkitt lymphoma | The truncate Notch2 activated both the Notch2 and the NF-κB signals and promoted... | BeFree | 25314575 | Detail |
| <0.001 | Malignant neoplasm of thyroid | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | Opposing role of Notch1 and Notch2 in a Kras(G12D)-driven murine non-small cell ... | BeFree | 24509876 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Patient 3 was found to have syndromic cholestasis due to bi-allelic NOTCH2 mutations. | 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 |
| Transgenic mice overexpressing Notch2 in the uvea exhibit a hyperplastic ciliary body leading to inc... | DisGeNET | Detail |
| In order to determine the expression of Notch 2 and to evaluate its possible prognostic value in mal... | DisGeNET | Detail |
| Short hairpin RNA targeting Notch2 inhibits U87 human glioma cell proliferation by inducing cell cyc... | DisGeNET | Detail |
| Interference of Notch 2 inhibits the progression of gliomas and induces cell apoptosis by induction ... | DisGeNET | Detail |
| Taken together, the present study showed that miR-181c can be considered a valuable indicator for th... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NOTCH2 mutations were detected in 9 of 46 (20%) hepatitis C virus-positive patients, and NOTCH1 muta... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Notch2 is a critical membrane receptor for B-cell functions, and also displays various biologica... | 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 |
| Based on these results, we conclude that the Notch2 receptor with PEST domain truncation enhances ce... | DisGeNET | Detail |
| HCS is associated with mutations in exon 34 of NOTCH2 upstream the PEST domain that lead to the crea... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The data demonstrated that the expression of P21, cyclin D and phosphorylated retinoblastoma was sig... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We used primary cells derived from the RV of infants with TOF to show a direct link between scaRNA l... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The truncate Notch2 activated both the Notch2 and the NF-κB signals and promoted the proliferation o... | DisGeNET | Detail |
| The truncate mutation of Notch2 enhances cell proliferation through activating the NF-κB signal path... | 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 |
| MicroRNA expression profiling and Notch1 and Notch2 expression in minimal deviation adenocarcinoma o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In conclusion, this is the first study characterizing the in vivo functions of Notch1 and Notch2 in ... | DisGeNET | Detail |
| Notch2 activation is protective against anticancer effects of zerumbone in human breast cancer cells... | DisGeNET | Detail |
| The Notch pathway was potentially activated by mutations of NOTCH1 and NOTCH2 in 4 breast cancers. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Here, we show that missense mutations in NOTCH1 and NOTCH2 found in human bladder cancers result in ... | DisGeNET | Detail |
| We conclude that inhibition of Notch2 prevents goblet cell metaplasia induced by a broad range of st... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the ... | DisGeNET | Detail |
| In conclusion, Notch regulates skeletal development and bone remodeling, and gain-of-function mutati... | DisGeNET | Detail |
| A novel NOTCH2 mutation identified in a Korean family with Hajdu-Cheney syndrome showing phenotypic ... | DisGeNET | Detail |
| Notch2 family expressions were higher in intraductal papillary mucinous carcinoma (IPMC) than in int... | 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 |
| Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the ... | DisGeNET | Detail |
| We speculate that HCS and SFPKS are a single disease entity with a wide spectrum of clinical manifes... | 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 |
| Affymetrix gene expression microarray revealed that BE samples express decreased levels of Notch rec... | DisGeNET | Detail |
| Here, we show that missense mutations in NOTCH1 and NOTCH2 found in human bladder cancers result in ... | DisGeNET | Detail |
| The results of the present study provide further insights into the effects of Notch 2 and a molecula... | DisGeNET | Detail |
| Notch2 activation is protective against anticancer effects of zerumbone in human breast cancer cells... | DisGeNET | Detail |
| The Notch pathway was potentially activated by mutations of NOTCH1 and NOTCH2 in 4 breast cancers. | DisGeNET | Detail |
| The truncate Notch2 activated both the Notch2 and the NF-κB signals and promoted the proliferation o... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Opposing role of Notch1 and Notch2 in a Kras(G12D)-driven murine non-small cell lung cancer model. | 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
- chr1:120,454,176-120,612,276
- Variant Type
- snv
Genome browser