 Gene summary |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
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. |
ENSG00000037280
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| PG | UP | 4.331102e+01 | 8.186376e-01 | 4.906101e-06 | 8.329155e-05 |
| 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 |
| STG | UP | ENST00000261937.11 | FLT4-201:protein_coding:FLT4 | 2.134443e+01 | 8.643334e-01 | 1.007050e-03 | 3.854907e-02 |
| PG | UP | ENST00000261937.11 | FLT4-201:protein_coding:FLT4 | 2.289540e+01 | 9.573888e-01 | 4.881600e-05 | 1.610352e-03 |
| PG | UP | ENST00000507059.5 | FLT4-207:retained_intron:FLT4 | 6.050821e+00 | 1.249573e+00 | 1.710462e-04 | 4.062819e-03 |
| TC | UP | ENST00000393347.7 | FLT4-202:protein_coding:FLT4 | 1.740750e+01 | 8.930631e-01 | 9.710160e-05 | 1.575664e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
| 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_125580 | chr5 | 180608968:180609053:180609905:180610025:180611331:180611479 | 180609905:180610025 |
| exon_skip_260267 | chr5 | 180630555:180630799:180631682:180631778:180649488:180649545 | 180631682:180631778 |
| exon_skip_279565 | chr5 | 180628928:180628999:180629259:180629427:180629696:180629812 | 180629259:180629427 |
| exon_skip_49692 | chr5 | 180613011:180613110:180614068:180614179:180616367:180616489 | 180614068:180614179 |
| exon_skip_78907 | chr5 | 180614086:180614179:180616367:180616489:180616900:180616994 | 180616367:180616489 |
| exon_skip_86182 | chr5 | 180628928:180628999:180629259:180629427:180629696:180629835 | 180629259:180629427 |
| 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 |
| 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 |
| ENST00000393347 | 180614068 | 180614179 | Frame-shift |
| ENST00000393347 | 180629259 | 180629427 | Frame-shift |
| ENST00000393347 | 180616367 | 180616489 | In-frame |
| 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 |
| ENST00000393347 | 180609905 | 180610025 | Frame-shift |
| ENST00000393347 | 180629259 | 180629427 | Frame-shift |
| ENST00000393347 | 180631682 | 180631778 | Frame-shift |
p-ENSG00000037280_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 |
| 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 |
| - 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 |
| 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 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P35916 | approved|investigational | DB00398 | Sorafenib | small molecule | P35916 |
| P35916 | approved|investigational | DB01268 | Sunitinib | small molecule | P35916 |
| P35916 | approved | DB06589 | Pazopanib | small molecule | P35916 |
| P35916 | approved|investigational | DB06626 | Axitinib | small molecule | P35916 |
| P35916 | approved | DB08896 | Regorafenib | small molecule | P35916 |
| P35916 | approved|investigational | DB09078 | Lenvatinib | small molecule | P35916 |
| P35916 | approved | DB09079 | Nintedanib | small molecule | P35916 |
| P35916 | approved|investigational | DB12010 | Fostamatinib | small molecule | P35916 |
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)