|
||||||
|
 | |
| |
| |
| |
| 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 GATA1 |
 Gene summary |
| Gene information | Gene symbol | GATA1 | Gene ID | 2623 |
| Gene name | GATA binding protein 1 | |
| Synonyms | ERYF1|GATA-1|GF-1|GF1|NF-E1|NFE1|XLANP|XLTDA|XLTT | |
| Cytomap | Xp11.23 | |
| Type of gene | protein-coding | |
| Description | erythroid transcription factorGATA-binding factor 1NF-E1 DNA-binding proteinerythroid transcription factor 1globin transcription factor 1nuclear factor, erythroid 1transcription factor GATA1 | |
| Modification date | 20180523 | |
| UniProtAcc | P15976 | |
| Context | PubMed: GATA1 [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 |
| GATA1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 22235304 |
| GATA1 | GO:0006366 | transcription by RNA polymerase II | 2467208 |
| GATA1 | GO:0010724 | regulation of definitive erythrocyte differentiation | 12200364|15920471 |
| GATA1 | GO:0035854 | eosinophil fate commitment | 12045236 |
| GATA1 | GO:0045893 | positive regulation of transcription, DNA-templated | 24245781 |
| GATA1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 12200364 |
| GATA1 | GO:0097067 | cellular response to thyroid hormone stimulus | 19375645 |
| GATA1 | GO:2000678 | negative regulation of transcription regulatory region DNA binding | 15920471 |
Top |
Exon skipping events across known transcript of Ensembl for GATA1 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 GATA1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for GATA1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510403 | X | 48644980:48645053:48649497:48649736:48650250:48650628 | 48649497:48649736 | ENSG00000102145.9 | ENST00000376665.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for GATA1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510403 | X | 48644980:48645053:48649497:48649736:48650250:48650628 | 48649497:48649736 | ENSG00000102145.9 | ENST00000376665.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for GATA1 |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for GATA1 |
| 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 GATA1 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_510403 | 48649498 | 48649736 | 48649611 | 48649611 | Frame_Shift_Del | T | - | p.V32fs |
| - 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 |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48649498 | 48649736 | 48649520 | 48649521 | Frame_Shift_Del | GA | - | p.E2fs |
| CMK115_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48649498 | 48649736 | 48649520 | 48649521 | Frame_Shift_Del | GA | - | p.E2fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48649498 | 48649736 | 48649560 | 48649561 | Frame_Shift_Ins | - | C | p.LP15fs |
| NCIH660_PROSTATE | 48649498 | 48649736 | 48649556 | 48649556 | Missense_Mutation | C | G | p.P14A |
| CAL29_URINARY_TRACT | 48649498 | 48649736 | 48649608 | 48649608 | Missense_Mutation | G | A | p.G31E |
| ECGI10_OESOPHAGUS | 48649498 | 48649736 | 48649728 | 48649728 | Missense_Mutation | A | C | p.H71P |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GATA1 |
| 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 GATA1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GATA1 |
Top |
RelatedDrugs for GATA1 |
| 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 GATA1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GATA1 | C3550789 | THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA | 4 | CTD_human;ORPHANET;UNIPROT |
| GATA1 | C0040034 | Thrombocytopenia | 1 | CTD_human;HPO |
| GATA1 | C1839161 | Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis | 1 | CTD_human;ORPHANET;UNIPROT |
| GATA1 | C1860788 | Transient Myeloproliferative Disorder of Down Syndrome | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|