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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for GFI1 |
 Gene summary |
| Gene information | Gene symbol | GFI1 | Gene ID | 2672 |
| Gene name | growth factor independent 1 transcriptional repressor | |
| Synonyms | GFI-1|GFI1A|SCN2|ZNF163 | |
| Cytomap | 1p22.1 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein Gfi-1growth factor independence-1growth factor independent 1 transcription repressorgrowth factor independent protein 1zinc finger protein 163 | |
| Modification date | 20180523 | |
| UniProtAcc | Q99684 | |
| Context | PubMed: GFI1 [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 |
| GFI1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15947108|19506020 |
| GFI1 | GO:0010956 | negative regulation of calcidiol 1-monooxygenase activity | 15947108 |
| GFI1 | GO:0010977 | negative regulation of neuron projection development | 19026687 |
| GFI1 | GO:0034121 | regulation of toll-like receptor signaling pathway | 20547752 |
| GFI1 | GO:0045892 | negative regulation of transcription, DNA-templated | 12874834 |
| GFI1 | GO:0070105 | positive regulation of interleukin-6-mediated signaling pathway | 11060035 |
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Exon skipping events across known transcript of Ensembl for GFI1 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. |
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Gene isoform structures and expression levels for GFI1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for GFI1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28488 | 1 | 92940320:92941764:92944144:92944310:92945904:92946042 | 92944144:92944310 | ENSG00000162676.7 | ENST00000370332.1,ENST00000294702.5,ENST00000427103.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GFI1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28488 | 1 | 92940320:92941764:92944144:92944310:92945904:92946042 | 92944144:92944310 | ENSG00000162676.7 | ENST00000370332.1,ENST00000427103.1,ENST00000294702.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for GFI1 |
| 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 |
| ENST00000294702 | 92944144 | 92944310 | Frame-shift |
| ENST00000370332 | 92944144 | 92944310 | Frame-shift |
| ENST00000427103 | 92944144 | 92944310 | Frame-shift |
| 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 |
| ENST00000294702 | 92944144 | 92944310 | Frame-shift |
| ENST00000370332 | 92944144 | 92944310 | Frame-shift |
| ENST00000427103 | 92944144 | 92944310 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GFI1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
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SNVs in the skipped exons for GFI1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| HCC1438_LUNG | 92944145 | 92944310 | 92944191 | 92944191 | Missense_Mutation | C | A | p.R348S |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 92944145 | 92944310 | 92944198 | 92944198 | Missense_Mutation | C | T | p.G346D |
| NCIH1092_LUNG | 92944145 | 92944310 | 92944245 | 92944245 | Missense_Mutation | G | T | p.H330Q |
| DMS454_LUNG | 92944145 | 92944310 | 92944306 | 92944306 | Missense_Mutation | C | T | p.R310Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GFI1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GFI1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GFI1 |
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RelatedDrugs for GFI1 |
| 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 |
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RelatedDiseases for GFI1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GFI1 | C2751288 | Neutropenia, Severe Congenital, Autosomal Dominant 2 | 2 | CTD_human;UNIPROT |
| GFI1 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| GFI1 | C0087012 | Ataxia, Spinocerebellar | 1 | CTD_human |
| GFI1 | C1842930 | Neutropenia, Nonimmune Chronic Idiopathic, Adult | 1 | CTD_human;UNIPROT |
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