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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 FGD6 |
 Gene summary |
| Gene information | Gene symbol | FGD6 | Gene ID | 55785 |
| Gene name | FYVE, RhoGEF and PH domain containing 6 | |
| Synonyms | ZFYVE24 | |
| Cytomap | 12q22 | |
| Type of gene | protein-coding | |
| Description | FYVE, RhoGEF and PH domain-containing protein 6zinc finger FYVE domain-containing protein 24 | |
| Modification date | 20180519 | |
| UniProtAcc | Q6ZV73 | |
| Context | PubMed: FGD6 [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 FGD6 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 FGD6 |
| 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 FGD6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95432 | 12 | 95475173:95475332:95478273:95478422:95479555:95479684 | 95478273:95478422 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95433 | 12 | 95478273:95478422:95479555:95479684:95483344:95483472 | 95479555:95479684 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95434 | 12 | 95486603:95486621:95488367:95488470:95498782:95498862 | 95488367:95488470 | ENSG00000180263.9 | ENST00000551521.1,ENST00000549499.1,ENST00000546711.1,ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95435 | 12 | 95498782:95498862:95500729:95500813:95501338:95501407 | 95500729:95500813 | ENSG00000180263.9 | ENST00000551521.1,ENST00000549499.1,ENST00000546711.1,ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95436 | 12 | 95500729:95500813:95501338:95501407:95502123:95502195 | 95501338:95501407 | ENSG00000180263.9 | ENST00000551521.1,ENST00000549499.1,ENST00000546711.1,ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95437 | 12 | 95507426:95507477:95528514:95528602:95531297:95531454 | 95528514:95528602 | ENSG00000180263.9 | ENST00000549499.1,ENST00000546711.1,ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95438 | 12 | 95531297:95531454:95535163:95535315:95546586:95546617 | 95535163:95535315 | ENSG00000180263.9 | ENST00000549499.1,ENST00000546711.1,ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95440 | 12 | 95566375:95566520:95602618:95605043:95611000:95611155 | 95602618:95605043 | ENSG00000180263.9 | ENST00000549499.1,ENST00000546711.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGD6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95432 | 12 | 95475173:95475332:95478273:95478422:95479555:95479684 | 95478273:95478422 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95433 | 12 | 95478273:95478422:95479555:95479684:95483344:95483472 | 95479555:95479684 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3 |
| exon_skip_95434 | 12 | 95486603:95486621:95488367:95488470:95498782:95498862 | 95488367:95488470 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3,ENST00000546711.1,ENST00000551521.1,ENST00000549499.1 |
| exon_skip_95435 | 12 | 95498782:95498862:95500729:95500813:95501338:95501407 | 95500729:95500813 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3,ENST00000546711.1,ENST00000551521.1,ENST00000549499.1 |
| exon_skip_95436 | 12 | 95500729:95500813:95501338:95501407:95502123:95502195 | 95501338:95501407 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3,ENST00000546711.1,ENST00000551521.1,ENST00000549499.1 |
| exon_skip_95437 | 12 | 95507426:95507477:95528514:95528602:95531297:95531454 | 95528514:95528602 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3,ENST00000546711.1,ENST00000549499.1 |
| exon_skip_95438 | 12 | 95531297:95531454:95535163:95535315:95546586:95546617 | 95535163:95535315 | ENSG00000180263.9 | ENST00000343958.4,ENST00000451107.3,ENST00000546711.1,ENST00000549499.1 |
| exon_skip_95440 | 12 | 95566375:95566520:95602618:95605043:95611000:95611155 | 95602618:95605043 | ENSG00000180263.9 | ENST00000546711.1,ENST00000549499.1 |
| 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 FGD6 |
| 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 |
| ENST00000343958 | 95478273 | 95478422 | Frame-shift |
| ENST00000343958 | 95488367 | 95488470 | Frame-shift |
| ENST00000343958 | 95528514 | 95528602 | Frame-shift |
| ENST00000343958 | 95535163 | 95535315 | Frame-shift |
| ENST00000343958 | 95479555 | 95479684 | In-frame |
| ENST00000343958 | 95500729 | 95500813 | In-frame |
| ENST00000343958 | 95501338 | 95501407 | 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 |
| ENST00000343958 | 95478273 | 95478422 | Frame-shift |
| ENST00000343958 | 95488367 | 95488470 | Frame-shift |
| ENST00000343958 | 95528514 | 95528602 | Frame-shift |
| ENST00000343958 | 95535163 | 95535315 | Frame-shift |
| ENST00000343958 | 95479555 | 95479684 | In-frame |
| ENST00000343958 | 95500729 | 95500813 | In-frame |
| ENST00000343958 | 95501338 | 95501407 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGD6 |
| 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 |
| ENST00000343958 | 9305 | 1430 | 95501338 | 95501407 | 3489 | 3557 | 1088 | 1111 |
| ENST00000343958 | 9305 | 1430 | 95500729 | 95500813 | 3558 | 3641 | 1111 | 1139 |
| ENST00000343958 | 9305 | 1430 | 95479555 | 95479684 | 4203 | 4331 | 1326 | 1369 |
| 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 |
| ENST00000343958 | 9305 | 1430 | 95501338 | 95501407 | 3489 | 3557 | 1088 | 1111 |
| ENST00000343958 | 9305 | 1430 | 95500729 | 95500813 | 3558 | 3641 | 1111 | 1139 |
| ENST00000343958 | 9305 | 1430 | 95479555 | 95479684 | 4203 | 4331 | 1326 | 1369 |
| 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 |
| Q6ZV73 | 1088 | 1111 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1088 | 1111 | 1089 | 1183 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q6ZV73 | 1111 | 1139 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1111 | 1139 | 1089 | 1183 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q6ZV73 | 1111 | 1139 | 1115 | 1115 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6ZV73 | 1326 | 1369 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1326 | 1369 | 1333 | 1429 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| 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 |
| Q6ZV73 | 1088 | 1111 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1088 | 1111 | 1089 | 1183 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q6ZV73 | 1111 | 1139 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1111 | 1139 | 1089 | 1183 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q6ZV73 | 1111 | 1139 | 1115 | 1115 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q6ZV73 | 1326 | 1369 | 1 | 1430 | Chain | ID=PRO_0000080952;Note=FYVE%2C RhoGEF and PH domain-containing protein 6 |
| Q6ZV73 | 1326 | 1369 | 1333 | 1429 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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SNVs in the skipped exons for FGD6 |
| - 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-A1EG-01 | exon_skip_95433 | 95479556 | 95479684 | 95479587 | 95479587 | Frame_Shift_Del | T | - | p.N1359fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95435 | 95500730 | 95500813 | 95500758 | 95500758 | Frame_Shift_Del | T | - | p.N1131fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95436 | 95501339 | 95501407 | 95501402 | 95501402 | Frame_Shift_Del | A | - | p.F1090fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95436 | 95501339 | 95501407 | 95501402 | 95501402 | Frame_Shift_Del | A | - | p.L1091fs |
| LUAD | TCGA-O1-A52J-01 | exon_skip_95440 | 95602619 | 95605043 | 95602903 | 95602903 | Frame_Shift_Del | A | - | p.A719fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_95440 | 95602619 | 95605043 | 95602963 | 95602963 | Frame_Shift_Del | T | - | p.E699fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95603053 | 95603053 | Frame_Shift_Del | C | - | p.G669fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95603064 | 95603064 | Frame_Shift_Del | C | - | p.E666fs |
| BLCA | TCGA-XF-A9T6-01 | exon_skip_95440 | 95602619 | 95605043 | 95603086 | 95603087 | Frame_Shift_Del | GG | - | p.T659fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95603118 | 95603118 | Frame_Shift_Del | A | - | p.W648fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95440 | 95602619 | 95605043 | 95603118 | 95603118 | Frame_Shift_Del | A | - | p.W648fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95440 | 95602619 | 95605043 | 95603186 | 95603186 | Frame_Shift_Del | T | - | p.N625fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95440 | 95602619 | 95605043 | 95603257 | 95603257 | Frame_Shift_Del | G | - | p.P601fs |
| COAD | TCGA-G4-6588-01 | exon_skip_95440 | 95602619 | 95605043 | 95603469 | 95603469 | Frame_Shift_Del | T | - | p.S531fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95603525 | 95603525 | Frame_Shift_Del | T | - | p.K512fs |
| COAD | TCGA-A6-5665-01 | exon_skip_95440 | 95602619 | 95605043 | 95603566 | 95603566 | Frame_Shift_Del | T | - | p.P499fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_95440 | 95602619 | 95605043 | 95603722 | 95603722 | Frame_Shift_Del | A | - | p.F446fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_95440 | 95602619 | 95605043 | 95603722 | 95603722 | Frame_Shift_Del | A | - | p.I447X |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_95440 | 95602619 | 95605043 | 95603820 | 95603820 | Frame_Shift_Del | T | - | p.M414fs |
| UCEC | TCGA-BG-A0MQ-01 | exon_skip_95440 | 95602619 | 95605043 | 95603820 | 95603820 | Frame_Shift_Del | T | - | p.M414fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95604478 | 95604478 | Frame_Shift_Del | A | - | p.F194fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_95440 | 95602619 | 95605043 | 95604597 | 95604597 | Frame_Shift_Del | T | - | p.T155fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_95440 | 95602619 | 95605043 | 95604662 | 95604662 | Frame_Shift_Del | A | - | p.L133fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_95440 | 95602619 | 95605043 | 95603819 | 95603820 | Frame_Shift_Ins | - | T | p.G414fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_95440 | 95602619 | 95605043 | 95605017 | 95605018 | Frame_Shift_Ins | - | G | p.A15fs |
| READ | TCGA-AG-A002-01 | exon_skip_95434 | 95488368 | 95488470 | 95488460 | 95488460 | Nonsense_Mutation | C | A | p.E1170X |
| SKCM | TCGA-EE-A2GI-06 | exon_skip_95434 | 95488368 | 95488470 | 95488460 | 95488460 | Nonsense_Mutation | C | A | p.E1170* |
| SKCM | TCGA-EE-A2GI-06 | exon_skip_95434 | 95488368 | 95488470 | 95488460 | 95488460 | Nonsense_Mutation | C | A | p.E1170X |
| HNSC | TCGA-T3-A92M-01 | exon_skip_95438 | 95535164 | 95535315 | 95535261 | 95535261 | Nonsense_Mutation | C | A | p.E914* |
| READ | TCGA-AG-A002-01 | exon_skip_95440 | 95602619 | 95605043 | 95602980 | 95602980 | Nonsense_Mutation | C | A | p.E694X |
| PAAD | TCGA-IB-A7LX-01 | exon_skip_95440 | 95602619 | 95605043 | 95603246 | 95603246 | Nonsense_Mutation | G | T | p.S605X |
| HNSC | TCGA-CV-7089-01 | exon_skip_95440 | 95602619 | 95605043 | 95603436 | 95603436 | Nonsense_Mutation | G | A | p.Q542* |
| BLCA | TCGA-KQ-A41R-01 | exon_skip_95440 | 95602619 | 95605043 | 95603478 | 95603478 | Nonsense_Mutation | C | A | p.E528* |
| STAD | TCGA-CG-5721-01 | exon_skip_95434 | 95488368 | 95488470 | 95488366 | 95488366 | Splice_Site | A | G | . |
| STAD | TCGA-CG-5721-01 | exon_skip_95434 | 95488368 | 95488470 | 95488366 | 95488366 | Splice_Site | A | G | p.E1200_splice |
| - 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 |
| KM12_LARGE_INTESTINE | 95602619 | 95605043 | 95603525 | 95603525 | Frame_Shift_Del | T | - | p.K512fs |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 95602619 | 95605043 | 95603566 | 95603567 | Frame_Shift_Del | TT | - | p.K498fs |
| SNU175_LARGE_INTESTINE | 95602619 | 95605043 | 95603185 | 95603186 | Frame_Shift_Ins | - | T | p.N625fs |
| HS863T_FIBROBLAST | 95602619 | 95605043 | 95603565 | 95603566 | Frame_Shift_Ins | - | T | p.P499fs |
| NCIH2291_LUNG | 95602619 | 95605043 | 95603565 | 95603566 | Frame_Shift_Ins | - | T | p.P499fs |
| PANC0813_PANCREAS | 95602619 | 95605043 | 95603565 | 95603566 | Frame_Shift_Ins | - | T | p.P499fs |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95602619 | 95605043 | 95603565 | 95603566 | Frame_Shift_Ins | - | T | p.P499fs |
| LB1047RCC_KIDNEY | 95602619 | 95605043 | 95605017 | 95605018 | Frame_Shift_Ins | - | G | p.K15fs |
| CCK81_LARGE_INTESTINE | 95478274 | 95478422 | 95478358 | 95478358 | Missense_Mutation | T | C | p.N1391S |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95478274 | 95478422 | 95478400 | 95478400 | Missense_Mutation | T | C | p.Q1377R |
| NCIH2029_LUNG | 95479556 | 95479684 | 95479578 | 95479578 | Missense_Mutation | A | G | p.L1362P |
| SKN_ENDOMETRIUM | 95479556 | 95479684 | 95479665 | 95479665 | Missense_Mutation | T | C | p.D1333G |
| 2313287_STOMACH | 95500730 | 95500813 | 95500794 | 95500794 | Missense_Mutation | T | C | p.Y1118C |
| CW2_LARGE_INTESTINE | 95501339 | 95501407 | 95501385 | 95501385 | Missense_Mutation | A | G | p.L1096P |
| GEO_LARGE_INTESTINE | 95528515 | 95528602 | 95528521 | 95528521 | Missense_Mutation | G | T | p.L1026M |
| GP2D_LARGE_INTESTINE | 95528515 | 95528602 | 95528542 | 95528542 | Missense_Mutation | T | C | p.I1019V |
| GP5D_LARGE_INTESTINE | 95528515 | 95528602 | 95528542 | 95528542 | Missense_Mutation | T | C | p.I1019V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95528515 | 95528602 | 95528592 | 95528592 | Missense_Mutation | C | T | p.R1002H |
| NCIH810_LUNG | 95528515 | 95528602 | 95528597 | 95528597 | Missense_Mutation | G | T | p.S1000R |
| HCT15_LARGE_INTESTINE | 95535164 | 95535315 | 95535204 | 95535204 | Missense_Mutation | G | A | p.R933W |
| GCIY_STOMACH | 95535164 | 95535315 | 95535206 | 95535206 | Missense_Mutation | T | C | p.N932S |
| EPLC272H_LUNG | 95535164 | 95535315 | 95535255 | 95535255 | Missense_Mutation | G | A | p.R916W |
| JHU022_UPPER_AERODIGESTIVE_TRACT | 95602619 | 95605043 | 95602665 | 95602665 | Missense_Mutation | C | T | p.A799T |
| SLR20_KIDNEY | 95602619 | 95605043 | 95602716 | 95602716 | Missense_Mutation | T | A | p.S782C |
| 639V_URINARY_TRACT | 95602619 | 95605043 | 95602752 | 95602752 | Missense_Mutation | G | A | p.R770W |
| HT55_LARGE_INTESTINE | 95602619 | 95605043 | 95602760 | 95602760 | Missense_Mutation | A | G | p.M767T |
| JHUEM7_ENDOMETRIUM | 95602619 | 95605043 | 95602777 | 95602777 | Missense_Mutation | C | A | p.E761D |
| CAOV4_OVARY | 95602619 | 95605043 | 95602806 | 95602806 | Missense_Mutation | G | C | p.R752G |
| MEWO_SKIN | 95602619 | 95605043 | 95602820 | 95602820 | Missense_Mutation | T | A | p.E747V |
| NCIH2085_LUNG | 95602619 | 95605043 | 95603006 | 95603006 | Missense_Mutation | C | A | p.S685I |
| OV17R_OVARY | 95602619 | 95605043 | 95603025 | 95603025 | Missense_Mutation | C | A | p.V679L |
| ESS1_ENDOMETRIUM | 95602619 | 95605043 | 95603051 | 95603051 | Missense_Mutation | A | G | p.I670T |
| DU145_PROSTATE | 95602619 | 95605043 | 95603191 | 95603191 | Missense_Mutation | C | A | p.K623N |
| SKMEL3_SKIN | 95602619 | 95605043 | 95603392 | 95603392 | Missense_Mutation | A | T | p.D556E |
| SNU407_LARGE_INTESTINE | 95602619 | 95605043 | 95603434 | 95603434 | Missense_Mutation | C | A | p.Q542H |
| SUIT2_PANCREAS | 95602619 | 95605043 | 95603531 | 95603531 | Missense_Mutation | A | G | p.L510P |
| OV17R_OVARY | 95602619 | 95605043 | 95603532 | 95603532 | Missense_Mutation | G | T | p.L510I |
| HCC2998_LARGE_INTESTINE | 95602619 | 95605043 | 95603824 | 95603824 | Missense_Mutation | T | G | p.E412D |
| NCIH2135_LUNG | 95602619 | 95605043 | 95603937 | 95603937 | Missense_Mutation | C | T | p.V375M |
| C84_LARGE_INTESTINE | 95602619 | 95605043 | 95604255 | 95604255 | Missense_Mutation | A | T | p.S269T |
| HT55_LARGE_INTESTINE | 95602619 | 95605043 | 95604383 | 95604383 | Missense_Mutation | G | A | p.S226L |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95602619 | 95605043 | 95604446 | 95604446 | Missense_Mutation | C | T | p.S205N |
| CCLFPEDS0008T_SOFT_TISSUE | 95602619 | 95605043 | 95604471 | 95604471 | Missense_Mutation | C | A | p.A197S |
| JHUEM7_ENDOMETRIUM | 95602619 | 95605043 | 95604510 | 95604510 | Missense_Mutation | T | C | p.K184E |
| TE4_OESOPHAGUS | 95602619 | 95605043 | 95604628 | 95604628 | Missense_Mutation | G | T | p.N144K |
| HEC251_ENDOMETRIUM | 95602619 | 95605043 | 95604688 | 95604688 | Missense_Mutation | C | A | p.E124D |
| JHUEM7_ENDOMETRIUM | 95602619 | 95605043 | 95604688 | 95604688 | Missense_Mutation | C | A | p.E124D |
| IGROV1_OVARY | 95602619 | 95605043 | 95604713 | 95604713 | Missense_Mutation | C | T | p.C116Y |
| SCH_STOMACH | 95602619 | 95605043 | 95604735 | 95604735 | Missense_Mutation | T | C | p.M109V |
| SNU1040_LARGE_INTESTINE | 95602619 | 95605043 | 95604749 | 95604749 | Missense_Mutation | T | C | p.D104G |
| HEC6_ENDOMETRIUM | 95602619 | 95605043 | 95604825 | 95604825 | Missense_Mutation | G | T | p.L79M |
| JHUEM7_ENDOMETRIUM | 95602619 | 95605043 | 95604896 | 95604896 | Missense_Mutation | T | G | p.K55T |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 95602619 | 95605043 | 95604899 | 95604899 | Missense_Mutation | G | A | p.P54L |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 95602619 | 95605043 | 95604899 | 95604899 | Missense_Mutation | G | A | p.P54L |
| HCC2157_BREAST | 95602619 | 95605043 | 95604953 | 95604953 | Missense_Mutation | A | G | p.I36T |
| NCIH1876_LUNG | 95602619 | 95605043 | 95604975 | 95604975 | Missense_Mutation | G | A | p.P29S |
| LU134A_LUNG | 95602619 | 95605043 | 95604975 | 95604975 | Missense_Mutation | G | A | p.P29S |
| HEC1B_ENDOMETRIUM | 95602619 | 95605043 | 95604977 | 95604977 | Missense_Mutation | G | T | p.P28H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 95478274 | 95478422 | 95478389 | 95478389 | Nonsense_Mutation | C | A | p.G1381* |
| HCT15_LARGE_INTESTINE | 95602619 | 95605043 | 95603330 | 95603330 | Nonsense_Mutation | G | C | p.S577* |
| HEC1A_ENDOMETRIUM | 95602619 | 95605043 | 95603583 | 95603583 | Nonsense_Mutation | G | A | p.R493* |
| HEC1_ENDOMETRIUM | 95602619 | 95605043 | 95603583 | 95603583 | Nonsense_Mutation | G | A | p.R493* |
| HEC1B_ENDOMETRIUM | 95602619 | 95605043 | 95603583 | 95603583 | Nonsense_Mutation | G | A | p.R493* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGD6 |
| 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 FGD6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGD6 |
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RelatedDrugs for FGD6 |
| 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 FGD6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGD6 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| FGD6 | C2237660 | exudative macular degeneration | 1 | CTD_human |
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