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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 AGGF1 |
 Gene summary |
| Gene information | Gene symbol | AGGF1 | Gene ID | 55109 |
| Gene name | angiogenic factor with G-patch and FHA domains 1 | |
| Synonyms | GPATC7|GPATCH7|HSU84971|HUS84971|VG5Q | |
| Cytomap | 5q13.3 | |
| Type of gene | protein-coding | |
| Description | angiogenic factor with G patch and FHA domains 1G patch domain-containing protein 7angiogenic factor VG5Qvasculogenesis gene on 5q protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N302 | |
| Context | PubMed: AGGF1 [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 |
| AGGF1 | GO:0001938 | positive regulation of endothelial cell proliferation | 14961121 |
| AGGF1 | GO:0007155 | cell adhesion | 14961121 |
| AGGF1 | GO:0045766 | positive regulation of angiogenesis | 14961121 |
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Exon skipping events across known transcript of Ensembl for AGGF1 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 AGGF1 |
| 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 AGGF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435826 | 5 | 76332380:76332545:76335355:76335544:76342171:76342502 | 76335355:76335544 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435827 | 5 | 76342171:76342502:76343985:76344097:76344760:76344812 | 76343985:76344097 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435828 | 5 | 76343985:76344097:76344760:76344812:76348530:76348632 | 76344760:76344812 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435832 | 5 | 76344760:76344812:76348530:76348632:76349789:76349955 | 76348530:76348632 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435833 | 5 | 76351338:76351421:76355440:76355568:76357527:76357627 | 76355440:76355568 | ENSG00000164252.8 | ENST00000312916.7 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AGGF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435826 | 5 | 76332380:76332545:76335355:76335544:76342171:76342502 | 76335355:76335544 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435827 | 5 | 76342171:76342502:76343985:76344097:76344760:76344812 | 76343985:76344097 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435828 | 5 | 76343985:76344097:76344760:76344812:76348530:76348632 | 76344760:76344812 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435832 | 5 | 76344760:76344812:76348530:76348632:76349789:76349955 | 76348530:76348632 | ENSG00000164252.8 | ENST00000312916.7 |
| exon_skip_435833 | 5 | 76351338:76351421:76355440:76355568:76357527:76357627 | 76355440:76355568 | ENSG00000164252.8 | ENST00000312916.7 |
| 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 AGGF1 |
| 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 |
| ENST00000312916 | 76343985 | 76344097 | Frame-shift |
| ENST00000312916 | 76344760 | 76344812 | Frame-shift |
| ENST00000312916 | 76355440 | 76355568 | Frame-shift |
| ENST00000312916 | 76335355 | 76335544 | In-frame |
| ENST00000312916 | 76348530 | 76348632 | 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 |
| ENST00000312916 | 76343985 | 76344097 | Frame-shift |
| ENST00000312916 | 76344760 | 76344812 | Frame-shift |
| ENST00000312916 | 76355440 | 76355568 | Frame-shift |
| ENST00000312916 | 76335355 | 76335544 | In-frame |
| ENST00000312916 | 76348530 | 76348632 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AGGF1 |
| 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 |
| ENST00000312916 | 4526 | 714 | 76335355 | 76335544 | 1064 | 1252 | 227 | 290 |
| ENST00000312916 | 4526 | 714 | 76348530 | 76348632 | 1748 | 1849 | 455 | 489 |
| 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 |
| ENST00000312916 | 4526 | 714 | 76335355 | 76335544 | 1064 | 1252 | 227 | 290 |
| ENST00000312916 | 4526 | 714 | 76348530 | 76348632 | 1748 | 1849 | 455 | 489 |
| 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 |
| Q8N302 | 227 | 290 | 110 | 714 | Alternative sequence | ID=VSP_009632;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N302 | 227 | 290 | 177 | 714 | Alternative sequence | ID=VSP_009634;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q8N302 | 227 | 290 | 2 | 714 | Chain | ID=PRO_0000064495;Note=Angiogenic factor with G patch and FHA domains 1 |
| Q8N302 | 455 | 489 | 110 | 714 | Alternative sequence | ID=VSP_009632;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N302 | 455 | 489 | 177 | 714 | Alternative sequence | ID=VSP_009634;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q8N302 | 455 | 489 | 2 | 714 | Chain | ID=PRO_0000064495;Note=Angiogenic factor with G patch and FHA domains 1 |
| Q8N302 | 455 | 489 | 434 | 487 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
| Q8N302 | 455 | 489 | 471 | 471 | Natural variant | ID=VAR_037447;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856835,PMID:15489334 |
| 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 |
| Q8N302 | 227 | 290 | 110 | 714 | Alternative sequence | ID=VSP_009632;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N302 | 227 | 290 | 177 | 714 | Alternative sequence | ID=VSP_009634;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q8N302 | 227 | 290 | 2 | 714 | Chain | ID=PRO_0000064495;Note=Angiogenic factor with G patch and FHA domains 1 |
| Q8N302 | 455 | 489 | 110 | 714 | Alternative sequence | ID=VSP_009632;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8N302 | 455 | 489 | 177 | 714 | Alternative sequence | ID=VSP_009634;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q8N302 | 455 | 489 | 2 | 714 | Chain | ID=PRO_0000064495;Note=Angiogenic factor with G patch and FHA domains 1 |
| Q8N302 | 455 | 489 | 434 | 487 | Domain | Note=FHA;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00086 |
| Q8N302 | 455 | 489 | 471 | 471 | Natural variant | ID=VAR_037447;Note=L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs17856835,PMID:15489334 |
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SNVs in the skipped exons for AGGF1 |
| - 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-DD-A39Y-01 | exon_skip_435826 | 76335356 | 76335544 | 76335488 | 76335488 | Frame_Shift_Del | A | - | p.K273fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435826 | 76335356 | 76335544 | 76335488 | 76335488 | Frame_Shift_Del | A | - | p.K273fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_435827 | 76343986 | 76344097 | 76344034 | 76344034 | Frame_Shift_Del | C | - | p.S417fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435827 | 76343986 | 76344097 | 76344060 | 76344060 | Frame_Shift_Del | T | - | p.F426fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435832 | 76348531 | 76348632 | 76348617 | 76348617 | Frame_Shift_Del | A | - | p.G484fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435832 | 76348531 | 76348632 | 76348617 | 76348617 | Frame_Shift_Del | A | - | p.G484fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435833 | 76355441 | 76355568 | 76355533 | 76355533 | Frame_Shift_Del | T | - | p.T603fs |
| STAD | TCGA-BR-8680-01 | exon_skip_435827 | 76343986 | 76344097 | 76344002 | 76344002 | Nonsense_Mutation | G | A | p.W406* |
| STAD | TCGA-BR-8680-01 | exon_skip_435827 | 76343986 | 76344097 | 76344002 | 76344002 | Nonsense_Mutation | G | A | p.W406X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_435827 | 76343986 | 76344097 | 76344055 | 76344055 | Nonsense_Mutation | C | A | p.S424* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_435833 | 76355441 | 76355568 | 76355440 | 76355440 | Splice_Site | G | T | e12-1 |
| - 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 |
| CW2_LARGE_INTESTINE | 76335356 | 76335544 | 76335395 | 76335395 | Missense_Mutation | T | C | p.Y241H |
| NCIH1581_LUNG | 76335356 | 76335544 | 76335416 | 76335416 | Missense_Mutation | G | A | p.G248S |
| NCIH2077_LUNG | 76335356 | 76335544 | 76335416 | 76335416 | Missense_Mutation | G | A | p.G248S |
| COLO678_LARGE_INTESTINE | 76335356 | 76335544 | 76335452 | 76335452 | Missense_Mutation | C | G | p.P260A |
| SNU81_LARGE_INTESTINE | 76335356 | 76335544 | 76335512 | 76335512 | Missense_Mutation | G | T | p.D280Y |
| NCIH660_PROSTATE | 76344761 | 76344812 | 76344783 | 76344783 | Missense_Mutation | C | T | p.L446F |
| GP5D_LARGE_INTESTINE | 76344761 | 76344812 | 76344789 | 76344789 | Missense_Mutation | A | T | p.I448F |
| HCT15_LARGE_INTESTINE | 76355441 | 76355568 | 76355471 | 76355471 | Missense_Mutation | A | G | p.K583E |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76355441 | 76355568 | 76355556 | 76355556 | Missense_Mutation | C | T | p.A611V |
| WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 76344761 | 76344812 | 76344812 | 76344812 | Splice_Site | G | A | p.K455K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AGGF1 |
| 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 AGGF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AGGF1 |
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RelatedDrugs for AGGF1 |
| 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 AGGF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| AGGF1 | C0022739 | Klippel-Trenaunay-Weber Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
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