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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 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 | 20180523 | |
| UniProtAcc | P52594 | |
| Context | PubMed: AGFG1 [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 |
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Exon skipping events across known transcript of Ensembl for AGFG1 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 AGFG1 |
| 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 AGFG1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334409 | 2 | 228337087:228337304:228356262:228356356:228384663:228384779 | 228356262:228356356 | ENSG00000173744.13 | ENST00000409315.1,ENST00000409171.1,ENST00000373671.3,ENST00000310078.8 |
| exon_skip_334411 | 2 | 228356262:228356356:228384663:228384779:228388478:228388641 | 228384663:228384779 | ENSG00000173744.13 | ENST00000409315.1,ENST00000409171.1,ENST00000373671.3,ENST00000409979.2,ENST00000310078.8 |
| exon_skip_334412 | 2 | 228389477:228389631:228395806:228395926:228398264:228398397 | 228395806:228395926 | ENSG00000173744.13 | ENST00000409315.1,ENST00000409171.1,ENST00000310078.8,ENST00000456594.1 |
| exon_skip_334416 | 2 | 228389477:228389631:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENSG00000173744.13 | ENST00000373671.3 |
| exon_skip_334418 | 2 | 228395806:228395926:228396853:228396925:228398264:228398397 | 228396853:228396925 | ENSG00000173744.13 | ENST00000409979.2 |
| exon_skip_334419 | 2 | 228395806:228395926:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENSG00000173744.13 | ENST00000409171.1,ENST00000310078.8 |
| exon_skip_334420 | 2 | 228395806:228395926:228398264:228398474:228399623:228399741 | 228398264:228398474 | ENSG00000173744.13 | ENST00000409315.1 |
| exon_skip_334422 | 2 | 228401340:228401420:228401616:228401709:228416674:228416833 | 228401616:228401709 | ENSG00000173744.13 | ENST00000409315.1,ENST00000409171.1,ENST00000373671.3,ENST00000409979.2,ENST00000310078.8 |
| exon_skip_334424 | 2 | 228401670:228401709:228414774:228414822:228416674:228416833 | 228414774:228414822 | ENSG00000173744.13 | ENST00000458212.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AGFG1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_334409 | 2 | 228337087:228337304:228356262:228356356:228384663:228384779 | 228356262:228356356 | ENSG00000173744.13 | ENST00000310078.8,ENST00000409315.1,ENST00000373671.3,ENST00000409171.1 |
| exon_skip_334411 | 2 | 228356262:228356356:228384663:228384779:228388478:228388641 | 228384663:228384779 | ENSG00000173744.13 | ENST00000409979.2,ENST00000310078.8,ENST00000409315.1,ENST00000373671.3,ENST00000409171.1 |
| exon_skip_334412 | 2 | 228389477:228389631:228395806:228395926:228398264:228398397 | 228395806:228395926 | ENSG00000173744.13 | ENST00000310078.8,ENST00000409315.1,ENST00000409171.1,ENST00000456594.1 |
| exon_skip_334416 | 2 | 228389477:228389631:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENSG00000173744.13 | ENST00000373671.3 |
| exon_skip_334418 | 2 | 228395806:228395926:228396853:228396925:228398264:228398397 | 228396853:228396925 | ENSG00000173744.13 | ENST00000409979.2 |
| exon_skip_334419 | 2 | 228395806:228395926:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENSG00000173744.13 | ENST00000310078.8,ENST00000409171.1 |
| exon_skip_334420 | 2 | 228395806:228395926:228398264:228398474:228399623:228399741 | 228398264:228398474 | ENSG00000173744.13 | ENST00000409315.1 |
| exon_skip_334422 | 2 | 228401340:228401420:228401616:228401709:228416674:228416833 | 228401616:228401709 | ENSG00000173744.13 | ENST00000409979.2,ENST00000310078.8,ENST00000409315.1,ENST00000373671.3,ENST00000409171.1 |
| exon_skip_334424 | 2 | 228401670:228401709:228414774:228414822:228416674:228416833 | 228414774:228414822 | ENSG00000173744.13 | ENST00000458212.1 |
| 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 AGFG1 |
| 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 |
| ENST00000310078 | 228356262 | 228356356 | Frame-shift |
| ENST00000310078 | 228384663 | 228384779 | Frame-shift |
| ENST00000310078 | 228395806 | 228395926 | In-frame |
| ENST00000310078 | 228398264 | 228398474 | In-frame |
| ENST00000310078 | 228401616 | 228401709 | In-frame |
| 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 |
| ENST00000310078 | 228356262 | 228356356 | Frame-shift |
| ENST00000310078 | 228384663 | 228384779 | Frame-shift |
| ENST00000310078 | 228395806 | 228395926 | In-frame |
| ENST00000310078 | 228398264 | 228398474 | In-frame |
| ENST00000310078 | 228401616 | 228401709 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGFG1 |
| 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 |
| ENST00000310078 | 8685 | 562 | 228395806 | 228395926 | 955 | 1074 | 231 | 271 |
| ENST00000310078 | 8685 | 562 | 228398264 | 228398474 | 1075 | 1284 | 271 | 341 |
| ENST00000310078 | 8685 | 562 | 228401616 | 228401709 | 1546 | 1638 | 428 | 459 |
| 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 |
| ENST00000310078 | 8685 | 562 | 228395806 | 228395926 | 955 | 1074 | 231 | 271 |
| ENST00000310078 | 8685 | 562 | 228398264 | 228398474 | 1075 | 1284 | 271 | 341 |
| ENST00000310078 | 8685 | 562 | 228401616 | 228401709 | 1546 | 1638 | 428 | 459 |
| 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 AGFG1 |
| - 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 |
| ACC | TCGA-OR-A5J5-01 | exon_skip_334411 | 228384664 | 228384779 | 228384741 | 228384744 | Frame_Shift_Del | GAAA | - | p.113_114del |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_334412 | 228395807 | 228395926 | 228395848 | 228395848 | Frame_Shift_Del | T | - | p.F246fs |
| BLCA | TCGA-XF-AAMH-01 | exon_skip_334420 exon_skip_334419 exon_skip_334416 | 228398265 | 228398474 | 228398355 | 228398355 | Frame_Shift_Del | C | - | p.S302fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_334420 exon_skip_334419 exon_skip_334416 | 228398265 | 228398474 | 228398410 | 228398410 | Frame_Shift_Del | T | - | p.G320fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_334409 | 228356263 | 228356356 | 228356264 | 228356264 | Nonsense_Mutation | C | T | p.R57X |
| SKCM | TCGA-EE-A17Y-06 | exon_skip_334422 | 228401617 | 228401709 | 228401685 | 228401685 | Nonsense_Mutation | C | T | p.Q452* |
| - 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 |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 228398265 | 228398474 | 228398358 | 228398359 | Frame_Shift_Del | AG | - | p.Q303fs |
| OVCAR4_OVARY | 228384664 | 228384779 | 228384721 | 228384721 | Missense_Mutation | T | C | p.F107L |
| MCF7_BREAST | 228384664 | 228384779 | 228384761 | 228384761 | Missense_Mutation | A | T | p.K120M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 228395807 | 228395926 | 228395905 | 228395905 | Missense_Mutation | C | T | p.P265S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 228395807 | 228395926 | 228395905 | 228395905 | Missense_Mutation | C | T | p.P265S |
| S117_SOFT_TISSUE | 228395807 | 228395926 | 228395905 | 228395905 | Missense_Mutation | C | T | p.P265S |
| GP2D_LARGE_INTESTINE | 228395807 | 228395926 | 228395920 | 228395920 | Missense_Mutation | A | G | p.T270A |
| GP5D_LARGE_INTESTINE | 228395807 | 228395926 | 228395920 | 228395920 | Missense_Mutation | A | G | p.T270A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 228398265 | 228398474 | 228398277 | 228398277 | Missense_Mutation | C | G | p.A276G |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 228398265 | 228398474 | 228398277 | 228398277 | Missense_Mutation | C | G | p.A276G |
| LOVO_LARGE_INTESTINE | 228398265 | 228398474 | 228398354 | 228398354 | Missense_Mutation | T | C | p.S302P |
| NCIH2342_LUNG | 228398265 | 228398474 | 228398363 | 228398363 | Missense_Mutation | C | T | p.H305Y |
| NCIH2342_LUNG | 228398265 | 228398474 | 228398387 | 228398387 | Missense_Mutation | A | C | p.K313Q |
| COLO829_SKIN | 228398265 | 228398474 | 228398468 | 228398468 | Missense_Mutation | G | A | p.G340R |
| HCC2998_LARGE_INTESTINE | 228401617 | 228401709 | 228401638 | 228401638 | Missense_Mutation | T | G | p.F436C |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 228401617 | 228401709 | 228401662 | 228401662 | Missense_Mutation | T | C | p.V444A |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 228401617 | 228401709 | 228401687 | 228401687 | Missense_Mutation | G | T | p.Q452H |
| TCYIK_CERVIX | 228401617 | 228401709 | 228401687 | 228401687 | Missense_Mutation | G | T | p.Q452H |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 228395807 | 228395926 | 228395809 | 228395809 | Nonsense_Mutation | C | T | p.Q233* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGFG1 |
| 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 |
| exon_skip_334420 | 2 | 228395806:228395926:228398264:228398474:228399623:228399741 | 228398264:228398474 | ENST00000409315.1 | LGG | rs13015491 | chr2:228398422 | A/G | 2.73e-03 |
| exon_skip_334419 | 2 | 228395806:228395926:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENST00000409171.1,ENST00000310078.8 | LGG | rs13015491 | chr2:228398422 | A/G | 2.73e-03 |
| exon_skip_334416 | 2 | 228389477:228389631:228398264:228398474:228399560:228399593 | 228398264:228398474 | ENST00000373671.3 | LGG | rs13015491 | chr2:228398422 | A/G | 2.73e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGFG1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGFG1 |
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RelatedDrugs for AGFG1 |
| 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 AGFG1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AGFG1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
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