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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 AGFG2 |
 Gene summary |
| Gene information | Gene symbol | AGFG2 | Gene ID | 3268 |
| Gene name | ArfGAP with FG repeats 2 | |
| Synonyms | HRBL|RABR | |
| Cytomap | 7q22.1 | |
| Type of gene | protein-coding | |
| Description | arf-GAP domain and FG repeat-containing protein 2HIV-1 Rev-binding protein-like proteinRev/Rex activation domain binding protein-relatedarf-GAP domain and FG repeats-containing protein 2nucleoporinrev/Rex activation domain-binding protein related | |
| Modification date | 20180522 | |
| UniProtAcc | O95081 | |
| Context | PubMed: AGFG2 [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 AGFG2 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 AGFG2 |
| 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 AGFG2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469198 | 7 | 100148048:100148134:100150969:100151123:100151715:100151881 | 100150969:100151123 | ENSG00000106351.8 | ENST00000474713.1,ENST00000300176.4 |
| exon_skip_469201 | 7 | 100153289:100153358:100154216:100154249:100159881:100160002 | 100154216:100154249 | ENSG00000106351.8 | ENST00000429987.1 |
| exon_skip_469205 | 7 | 100153289:100153358:100159881:100160002:100160216:100160305 | 100159881:100160002 | ENSG00000106351.8 | ENST00000474713.1,ENST00000300176.4,ENST00000430857.1,ENST00000262935.4 |
| exon_skip_469207 | 7 | 100154216:100154249:100159881:100160002:100160216:100160305 | 100159881:100160002 | ENSG00000106351.8 | ENST00000429987.1 |
| exon_skip_469209 | 7 | 100160216:100160305:100160485:100160569:100161456:100161585 | 100160485:100160569 | ENSG00000106351.8 | ENST00000300176.4,ENST00000262935.4,ENST00000429987.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AGFG2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_469198 | 7 | 100148048:100148134:100150969:100151123:100151715:100151881 | 100150969:100151123 | ENSG00000106351.8 | ENST00000300176.4,ENST00000474713.1 |
| exon_skip_469201 | 7 | 100153289:100153358:100154216:100154249:100159881:100160002 | 100154216:100154249 | ENSG00000106351.8 | ENST00000429987.1 |
| exon_skip_469205 | 7 | 100153289:100153358:100159881:100160002:100160216:100160305 | 100159881:100160002 | ENSG00000106351.8 | ENST00000430857.1,ENST00000300176.4,ENST00000262935.4,ENST00000474713.1 |
| exon_skip_469207 | 7 | 100154216:100154249:100159881:100160002:100160216:100160305 | 100159881:100160002 | ENSG00000106351.8 | ENST00000429987.1 |
| exon_skip_469209 | 7 | 100160216:100160305:100160485:100160569:100161456:100161585 | 100160485:100160569 | ENSG00000106351.8 | ENST00000300176.4,ENST00000262935.4,ENST00000429987.1 |
| 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 AGFG2 |
| 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 |
| ENST00000300176 | 100150969 | 100151123 | Frame-shift |
| ENST00000300176 | 100159881 | 100160002 | Frame-shift |
| ENST00000300176 | 100160485 | 100160569 | 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 |
| ENST00000300176 | 100150969 | 100151123 | Frame-shift |
| ENST00000300176 | 100159881 | 100160002 | Frame-shift |
| ENST00000300176 | 100160485 | 100160569 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGFG2 |
| 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 |
| ENST00000300176 | 4813 | 481 | 100160485 | 100160569 | 1210 | 1293 | 362 | 390 |
| 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 |
| ENST00000300176 | 4813 | 481 | 100160485 | 100160569 | 1210 | 1293 | 362 | 390 |
| 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 |
| O95081 | 362 | 390 | 157 | 481 | Alternative sequence | ID=VSP_010668;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O95081 | 362 | 390 | 1 | 481 | Chain | ID=PRO_0000204828;Note=Arf-GAP domain and FG repeat-containing protein 2 |
| O95081 | 362 | 390 | 367 | 427 | Compositional bias | Note=Pro-rich |
| O95081 | 362 | 390 | 365 | 365 | Natural variant | ID=VAR_050566;Note=T->N;Dbxref=dbSNP:rs34731997 |
| 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 |
| O95081 | 362 | 390 | 157 | 481 | Alternative sequence | ID=VSP_010668;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| O95081 | 362 | 390 | 1 | 481 | Chain | ID=PRO_0000204828;Note=Arf-GAP domain and FG repeat-containing protein 2 |
| O95081 | 362 | 390 | 367 | 427 | Compositional bias | Note=Pro-rich |
| O95081 | 362 | 390 | 365 | 365 | Natural variant | ID=VAR_050566;Note=T->N;Dbxref=dbSNP:rs34731997 |
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SNVs in the skipped exons for AGFG2 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_469209 | 100160486 | 100160569 | 100160522 | 100160522 | Frame_Shift_Del | C | - | p.S375fs |
| HNSC | TCGA-CV-5436-01 | exon_skip_469207 exon_skip_469205 | 100159882 | 100160002 | 100159920 | 100159921 | Frame_Shift_Ins | - | C | p.T306fs |
| BLCA | TCGA-C4-A0F1-01 | exon_skip_469198 | 100150970 | 100151123 | 100151098 | 100151098 | Nonsense_Mutation | C | G | p.S187* |
| LUSC | TCGA-18-3416-01 | exon_skip_469198 | 100150970 | 100151123 | 100151098 | 100151098 | Nonsense_Mutation | C | G | p.S187* |
| - 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 |
| HEC6_ENDOMETRIUM | 100150970 | 100151123 | 100150972 | 100150972 | Missense_Mutation | A | T | p.Y145F |
| SNU1040_LARGE_INTESTINE | 100150970 | 100151123 | 100150978 | 100150978 | Missense_Mutation | C | T | p.P147L |
| D392MG_CENTRAL_NERVOUS_SYSTEM | 100150970 | 100151123 | 100150981 | 100150981 | Missense_Mutation | C | T | p.P148L |
| JHUEM1_ENDOMETRIUM | 100150970 | 100151123 | 100151076 | 100151076 | Missense_Mutation | G | A | p.G180S |
| TTC1240_SOFT_TISSUE | 100150970 | 100151123 | 100151106 | 100151106 | Missense_Mutation | G | A | p.A190T |
| ASPC1_PANCREAS | 100150970 | 100151123 | 100151116 | 100151116 | Missense_Mutation | C | T | p.S193L |
| NCIH2172_LUNG | 100159882 | 100160002 | 100159947 | 100159947 | Missense_Mutation | G | T | p.A315S |
| SNU175_LARGE_INTESTINE | 100159882 | 100160002 | 100159947 | 100159947 | Missense_Mutation | G | A | p.A315T |
| HKA1_SKIN | 100159882 | 100160002 | 100159956 | 100159956 | Missense_Mutation | G | A | p.G318S |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 100160486 | 100160569 | 100160534 | 100160534 | Missense_Mutation | C | T | p.S379F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGFG2 |
| 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 AGFG2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGFG2 |
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RelatedDrugs for AGFG2 |
| 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 AGFG2 |
| 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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