|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for GATA2 |
 Gene summary |
| Gene information | Gene symbol | GATA2 | Gene ID | 2624 |
| Gene name | GATA binding protein 2 | |
| Synonyms | DCML|IMD21|MONOMAC|NFE1B | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | endothelial transcription factor GATA-2 | |
| Modification date | 20180523 | |
| UniProtAcc | P23769 | |
| Context | PubMed: GATA2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| GATA2 | GO:0006351 | transcription, DNA-templated | 16153155 |
| GATA2 | GO:0035854 | eosinophil fate commitment | 12045236 |
| GATA2 | GO:0045746 | negative regulation of Notch signaling pathway | 16672344 |
| GATA2 | GO:0045766 | positive regulation of angiogenesis | 19242469 |
| GATA2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 15016828|20206639|21788589 |
| GATA2 | GO:0061614 | pri-miRNA transcription by RNA polymerase II | 27780851 |
| GATA2 | GO:2000178 | negative regulation of neural precursor cell proliferation | 16672344 |
Top |
Exon skipping events across known transcript of Ensembl for GATA2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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. |
 |
Top |
Gene isoform structures and expression levels for GATA2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for GATA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387982 | 3 | 128205850:128205919:128206553:128206764:128207194:128207373 | 128206553:128206764 | ENSG00000179348.7 | ENST00000487848.1 |
| exon_skip_387991 | 3 | 128205850:128205919:128210846:128211065:128211741:128212016 | 128210846:128211065 | ENSG00000179348.7 | ENST00000498200.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for GATA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_387982 | 3 | 128205850:128205919:128206553:128206764:128207194:128207373 | 128206553:128206764 | ENSG00000179348.7 | ENST00000487848.1 |
| exon_skip_387991 | 3 | 128205850:128205919:128210846:128211065:128211741:128212016 | 128210846:128211065 | ENSG00000179348.7 | ENST00000498200.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GATA2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000487848 | 128206553 | 128206764 | 3UTR-3UTR |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000487848 | 128206553 | 128206764 | 3UTR-3UTR |
Top |
Infer the effects of exon skipping event on protein functional features for GATA2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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 |
SNVs in the skipped exons for GATA2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GATA2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GATA2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GATA2 |
Top |
RelatedDrugs for GATA2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GATA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GATA2 | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
| GATA2 | C3280030 | IMMUNODEFICIENCY 21 | 2 | ORPHANET;UNIPROT |
| GATA2 | C3463824 | MYELODYSPLASTIC SYNDROME | 2 | CTD_human;HPO;UNIPROT |
| GATA2 | C0007302 | Cartilage Diseases | 1 | CTD_human |
| GATA2 | C0024236 | Lymphedema | 1 | CTD_human;HPO |
| GATA2 | C0243050 | Cardiovascular Abnormalities | 1 | CTD_human |
| GATA2 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
| GATA2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| GATA2 | C3279664 | Emberger syndrome | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|