|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for NOTCH1 |
 Gene summary |
| Gene information | Gene symbol | NOTCH1 | Gene ID | 4851 |
| Gene name | notch receptor 1 | |
| Synonyms | AOS5|AOVD1|TAN1|hN1 | |
| Cytomap | 9q34.3 | |
| Type of gene | protein-coding | |
| Description | neurogenic locus notch homolog protein 1Notch homolog 1, translocation-associatednotch 1translocation-associated notch protein TAN-1 | |
| Modification date | 20200329 | |
| UniProtAcc | A7TW83, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NOTCH1 | GO:0007050 | cell cycle arrest | 11306509 |
| NOTCH1 | GO:0007219 | Notch signaling pathway | 11306509 |
| NOTCH1 | GO:0008284 | positive regulation of cell proliferation | 17849174 |
| NOTCH1 | GO:0008285 | negative regulation of cell proliferation | 11306509|20616313 |
| NOTCH1 | GO:0010629 | negative regulation of gene expression | 11306509 |
| NOTCH1 | GO:0010812 | negative regulation of cell-substrate adhesion | 16501043 |
| NOTCH1 | GO:0035924 | cellular response to vascular endothelial growth factor stimulus | 20616313 |
| NOTCH1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20616313 |
| NOTCH1 | GO:0045967 | negative regulation of growth rate | 11306509 |
| NOTCH1 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
| NOTCH1 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
| NOTCH1 | GO:0071372 | cellular response to follicle-stimulating hormone stimulus | 20613903 |
| NOTCH1 | GO:0090051 | negative regulation of cell migration involved in sprouting angiogenesis | 20616313 |
| NOTCH1 | GO:2001027 | negative regulation of endothelial cell chemotaxis | 20616313 |
Top |
Gene structures and expression levels for NOTCH1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
ENSG00000148400
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
 |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | DOWN | ENST00000491649.1 | NOTCH1-201:retained_intron:NOTCH1 | 1.485367e+00 | -9.889927e-01 | 3.661946e-03 | 1.520692e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NOTCH1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_117627 | chr9 | 136515483:136515716:136515981:136516094:136517272:136517385 | 136515981:136516094 |
| exon_skip_166857 | chr9 | 136517752:136517937:136518137:136518292:136518591:136518824 | 136518137:136518292 |
| exon_skip_49607 | chr9 | 136515981:136516094:136517272:136517385:136517752:136517937 | 136517272:136517385 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NOTCH1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
Top |
Infer the effects of exon skipping event on protein functional features for NOTCH1 |
p-ENSG00000148400_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in NOTCH1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for NOTCH1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for NOTCH1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NOTCH1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for NOTCH1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_49607 | -4.597901e-01 | 2.656740e-07 |
| CB | RBM4 | exon_skip_49607 | -4.398355e-01 | 9.763452e-07 |
| TC | RBM3 | exon_skip_49607 | 5.380809e-01 | 1.002727e-11 |
| TC | RBM4 | exon_skip_49607 | -4.809588e-01 | 2.360534e-09 |
Top |
RelatedDrugs for NOTCH1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for NOTCH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|