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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for AGFG1 |
 Gene summary |
| Gene information | Gene symbol | AGFG1 | Gene ID | 3267 |
| Gene name | ArfGAP with FG repeats 1 | |
| Synonyms | HRB|RAB|RIP | |
| Cytomap | 2q36.3 | |
| Type of gene | protein-coding | |
| Description | arf-GAP domain and FG repeat-containing protein 1HIV-1 Rev-binding proteinRab, Rev/Rex activation domain-binding proteinarf-GAP domain and FG repeats-containing protein 1hRIP, Rev interacting proteinnucleoporin-like protein RIPrev-interacting protei | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0S2Z3Y3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for AGFG1 |
| 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. |
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ENSG00000173744
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000373671.7 | AGFG1-202:protein_coding:AGFG1 | 1.205722e+02 | 9.263141e-01 | 1.335000e-06 | 1.915805e-05 |
| TC | UP | ENST00000409171.5 | AGFG1-203:protein_coding:AGFG1 | 1.305632e+02 | 9.642775e-01 | 8.286710e-08 | 5.219261e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for AGFG1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_115848 | chr2 | 227536955:227536993:227550059:227550106:227551959:227552117 | 227550059:227550106 |
| exon_skip_17970 | chr2 | 227524762:227524915:227533549:227533758:227534845:227535025 | 227533549:227533758 |
| exon_skip_180844 | chr2 | 227524762:227524915:227531091:227531210:227533549:227533681 | 227531091:227531210 |
| exon_skip_202780 | chr2 | 227531091:227531210:227532138:227532209:227533549:227533681 | 227532138:227532209 |
| exon_skip_21377 | chr2 | 227491547:227491640:227519948:227520063:227523763:227523925 | 227519948:227520063 |
| exon_skip_218068 | chr2 | 227472372:227472588:227491547:227491640:227519948:227520063 | 227491547:227491640 |
| exon_skip_277039 | chr2 | 227524762:227524915:227533549:227533758:227534845:227534877 | 227533549:227533758 |
| exon_skip_69527 | chr2 | 227524762:227524915:227531091:227531210:227532138:227532209 | 227531091:227531210 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_180844 | MSBB_PG | 5.401460e-01 | 3.914286e-01 | 1.487174e-01 | 9.576916e-07 |
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Open reading frame (ORF) annotation in the exon skipping event for AGFG1 |
| 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 |
| ENST00000310078 | 227519948 | 227520063 | Frame-shift |
| ENST00000310078 | 227531091 | 227531210 | 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 |
| ENST00000310078 | 227519948 | 227520063 | Frame-shift |
| ENST00000310078 | 227531091 | 227531210 | In-frame |
| 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 |
| ENST00000310078 | 227491547 | 227491640 | Frame-shift |
| ENST00000310078 | 227519948 | 227520063 | Frame-shift |
| ENST00000310078 | 227531091 | 227531210 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGFG1 |
p-ENSG00000173744_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 |
| ENST00000310078 | 8685 | 562 | 227531091 | 227531210 | 956 | 1074 | 232 | 271 |
| 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 |
| ENST00000310078 | 8685 | 562 | 227531091 | 227531210 | 956 | 1074 | 232 | 271 |
| 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 |
| ENST00000310078 | 8685 | 562 | 227531091 | 227531210 | 956 | 1074 | 232 | 271 |
| 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 |
| P52594 | 232 | 271 | 232 | 271 | Alternative sequence | ID=VSP_017600;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P52594 | 232 | 271 | 1 | 562 | Chain | ID=PRO_0000204904;Note=Arf-GAP domain and FG repeat-containing protein 1 |
| 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 |
| P52594 | 232 | 271 | 232 | 271 | Alternative sequence | ID=VSP_017600;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P52594 | 232 | 271 | 1 | 562 | Chain | ID=PRO_0000204904;Note=Arf-GAP domain and FG repeat-containing protein 1 |
| 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 |
| P52594 | 232 | 271 | 232 | 271 | Alternative sequence | ID=VSP_017600;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P52594 | 232 | 271 | 1 | 562 | Chain | ID=PRO_0000204904;Note=Arf-GAP domain and FG repeat-containing protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AGFG1 |
| 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 |
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SNVs in the skipped exons for AGFG1 |
| - 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 |
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AD stage-associated exon skippint events for AGFG1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGFG1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for AGFG1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | PCBP1 | exon_skip_180844 | -4.267789e-01 | 4.644162e-08 |
| CB | HNRNPK | exon_skip_180844 | -4.155150e-01 | 1.124438e-07 |
| CB | PCBP2 | exon_skip_180844 | -5.394491e-01 | 8.888326e-13 |
| CB | RALYL | exon_skip_180844 | -4.590253e-01 | 3.068763e-09 |
| CB | CELF1 | exon_skip_180844 | -4.459048e-01 | 9.592012e-09 |
| CB | EWSR1 | exon_skip_180844 | -4.445156e-01 | 1.079197e-08 |
| CB | NOVA1 | exon_skip_180844 | -4.346487e-01 | 2.455624e-08 |
| CB | PTBP3 | exon_skip_115848 | 4.369131e-01 | 1.181514e-08 |
| FL | SRSF2 | exon_skip_180844 | -4.409924e-01 | 1.714939e-10 |
| FL | HNRNPK | exon_skip_180844 | -4.383689e-01 | 2.259865e-10 |
| FL | RBM24 | exon_skip_180844 | -5.440998e-01 | 4.123073e-16 |
| FL | RALYL | exon_skip_180844 | -5.743618e-01 | 3.716747e-18 |
| FL | CELF1 | exon_skip_180844 | -4.066325e-01 | 5.312360e-09 |
| FL | NOVA1 | exon_skip_180844 | -4.595426e-01 | 2.275804e-11 |
| FL | MBNL1 | exon_skip_115848 | 4.624058e-01 | 3.046379e-11 |
| FL | PTBP1 | exon_skip_115848 | -4.895782e-01 | 1.328353e-12 |
| HCC | ZNF326 | exon_skip_180844 | 6.204448e-01 | 2.473845e-30 |
| HCC | SFPQ | exon_skip_180844 | 5.910550e-01 | 5.170939e-27 |
| HCC | RBM6 | exon_skip_180844 | 6.379304e-01 | 1.760338e-32 |
| HCC | SRSF11 | exon_skip_180844 | 5.376656e-01 | 8.850134e-22 |
| HCC | IGF2BP2 | exon_skip_180844 | 4.489798e-01 | 6.738244e-15 |
| HCC | PCBP1 | exon_skip_180844 | 4.201729e-01 | 4.641279e-13 |
| HCC | PCBP2 | exon_skip_180844 | 4.324745e-01 | 7.997750e-14 |
| HCC | SRSF5 | exon_skip_180844 | 5.064606e-01 | 3.976933e-19 |
| HCC | PTBP1 | exon_skip_115848 | -7.958940e-01 | 8.760269e-61 |
| IFG | RBM24 | exon_skip_180844 | -6.430428e-01 | 2.972769e-04 |
| IFG | RALYL | exon_skip_180844 | -5.779748e-01 | 1.591664e-03 |
| IFG | NOVA1 | exon_skip_180844 | -4.344639e-01 | 2.354230e-02 |
| IFG | PTBP1 | exon_skip_115848 | -4.495482e-01 | 1.639314e-02 |
| PCC | ZNF326 | exon_skip_180844 | 5.647797e-01 | 2.925577e-19 |
| PCC | SFPQ | exon_skip_180844 | 4.726241e-01 | 3.397981e-13 |
| PCC | RBM6 | exon_skip_180844 | 5.381691e-01 | 2.574217e-17 |
| PCC | SRSF11 | exon_skip_180844 | 4.571431e-01 | 2.412768e-12 |
| PCC | IGF2BP2 | exon_skip_180844 | 4.554330e-01 | 2.978216e-12 |
| PCC | PTBP1 | exon_skip_115848 | -7.637907e-01 | 5.468490e-42 |
| PG | IGF2BP2 | exon_skip_180844 | 4.359302e-01 | 2.348767e-10 |
| PG | PCBP1 | exon_skip_180844 | -4.895279e-01 | 5.031289e-13 |
| PG | RBM24 | exon_skip_180844 | -4.806945e-01 | 1.493247e-12 |
| PG | RALYL | exon_skip_180844 | -5.968173e-01 | 5.216015e-20 |
| PG | CELF1 | exon_skip_180844 | -4.364378e-01 | 2.226805e-10 |
| PG | NOVA1 | exon_skip_180844 | -4.466473e-01 | 7.474979e-11 |
| PG | MBNL1 | exon_skip_115848 | 5.434387e-01 | 2.269271e-14 |
| PG | PTBP1 | exon_skip_115848 | -4.463896e-01 | 1.179805e-09 |
| STG | RBM24 | exon_skip_180844 | -4.878796e-01 | 1.891300e-06 |
| STG | RALYL | exon_skip_180844 | -5.627059e-01 | 1.711050e-08 |
| STG | NOVA1 | exon_skip_180844 | -4.224494e-01 | 5.084774e-05 |
| STG | PTBP1 | exon_skip_115848 | -4.191022e-01 | 9.853315e-05 |
| TC | SRSF2 | exon_skip_180844 | -4.248554e-01 | 3.240236e-08 |
| TC | RBM24 | exon_skip_180844 | -7.573523e-01 | 2.651108e-30 |
| TC | RALYL | exon_skip_180844 | -8.615688e-01 | 3.364636e-47 |
| TC | PTBP3 | exon_skip_180844 | -4.419115e-01 | 7.686773e-09 |
| TC | CELF1 | exon_skip_180844 | -4.970780e-01 | 4.095527e-11 |
| TC | NOVA1 | exon_skip_180844 | -6.602831e-01 | 6.827513e-21 |
| TC | MBNL1 | exon_skip_115848 | 4.459606e-01 | 3.422740e-09 |
| TC | PTBP1 | exon_skip_115848 | -4.808272e-01 | 1.232599e-10 |
| TC | PTBP3 | exon_skip_115848 | 4.968486e-01 | 2.349777e-11 |
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RelatedDrugs for AGFG1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for AGFG1 |
| 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)
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