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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 VILL |
 Gene summary |
| Gene information | Gene symbol | VILL | Gene ID | 50853 |
| Gene name | villin like | |
| Synonyms | - | |
| Cytomap | 3p22.2 | |
| Type of gene | protein-coding | |
| Description | villin-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | O15195 | |
| Context | PubMed: VILL [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 VILL 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 VILL |
| 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 VILL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372813 | 3 | 38035388:38035463:38035751:38035957:38037229:38037280 | 38035751:38035957 | ENSG00000136059.10 | ENST00000383759.2,ENST00000492491.2,ENST00000416303.1,ENST00000283713.6 |
| exon_skip_372814 | 3 | 38035751:38035957:38037229:38037338:38038567:38038678 | 38037229:38037338 | ENSG00000136059.10 | ENST00000383759.2,ENST00000492491.2,ENST00000484717.1,ENST00000283713.6 |
| exon_skip_372817 | 3 | 38038973:38039176:38039580:38039659:38039756:38039855 | 38039580:38039659 | ENSG00000136059.10 | ENST00000383759.2,ENST00000484717.1,ENST00000283713.6 |
| exon_skip_372822 | 3 | 38039580:38039659:38039756:38039855:38040402:38040541 | 38039756:38039855 | ENSG00000136059.10 | ENST00000383759.2,ENST00000484717.1,ENST00000283713.6 |
| exon_skip_372823 | 3 | 38040829:38040930:38042412:38042491:38042946:38043080 | 38042412:38042491 | ENSG00000136059.10 | ENST00000412008.1 |
| exon_skip_372826 | 3 | 38040829:38040930:38042946:38043084:38043192:38043351 | 38042946:38043084 | ENSG00000136059.10 | ENST00000383759.2,ENST00000465644.1,ENST00000463080.2,ENST00000484717.1,ENST00000283713.6 |
| exon_skip_372828 | 3 | 38043201:38043351:38043886:38044066:38044658:38044804 | 38043886:38044066 | ENSG00000136059.10 | ENST00000383759.2,ENST00000465644.1,ENST00000463080.2,ENST00000283713.6 |
| exon_skip_372833 | 3 | 38043886:38044066:38044658:38044804:38045745:38045890 | 38044658:38044804 | ENSG00000136059.10 | ENST00000383759.2,ENST00000465644.1,ENST00000283713.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VILL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372813 | 3 | 38035388:38035463:38035751:38035957:38037229:38037280 | 38035751:38035957 | ENSG00000136059.10 | ENST00000283713.6,ENST00000416303.1,ENST00000492491.2,ENST00000383759.2 |
| exon_skip_372814 | 3 | 38035751:38035957:38037229:38037338:38038567:38038678 | 38037229:38037338 | ENSG00000136059.10 | ENST00000283713.6,ENST00000492491.2,ENST00000383759.2,ENST00000484717.1 |
| exon_skip_372817 | 3 | 38038973:38039176:38039580:38039659:38039756:38039855 | 38039580:38039659 | ENSG00000136059.10 | ENST00000283713.6,ENST00000383759.2,ENST00000484717.1 |
| exon_skip_372822 | 3 | 38039580:38039659:38039756:38039855:38040402:38040541 | 38039756:38039855 | ENSG00000136059.10 | ENST00000283713.6,ENST00000383759.2,ENST00000484717.1 |
| exon_skip_372823 | 3 | 38040829:38040930:38042412:38042491:38042946:38043080 | 38042412:38042491 | ENSG00000136059.10 | ENST00000412008.1 |
| exon_skip_372826 | 3 | 38040829:38040930:38042946:38043084:38043192:38043351 | 38042946:38043084 | ENSG00000136059.10 | ENST00000283713.6,ENST00000383759.2,ENST00000484717.1,ENST00000465644.1,ENST00000463080.2 |
| exon_skip_372828 | 3 | 38043201:38043351:38043886:38044066:38044658:38044804 | 38043886:38044066 | ENSG00000136059.10 | ENST00000283713.6,ENST00000383759.2,ENST00000465644.1,ENST00000463080.2 |
| exon_skip_372833 | 3 | 38043886:38044066:38044658:38044804:38045745:38045890 | 38044658:38044804 | ENSG00000136059.10 | ENST00000283713.6,ENST00000383759.2,ENST00000465644.1 |
| 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 VILL |
| 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 |
| ENST00000283713 | 38035751 | 38035957 | Frame-shift |
| ENST00000383759 | 38035751 | 38035957 | Frame-shift |
| ENST00000283713 | 38037229 | 38037338 | Frame-shift |
| ENST00000383759 | 38037229 | 38037338 | Frame-shift |
| ENST00000283713 | 38039580 | 38039659 | Frame-shift |
| ENST00000383759 | 38039580 | 38039659 | Frame-shift |
| ENST00000283713 | 38044658 | 38044804 | Frame-shift |
| ENST00000383759 | 38044658 | 38044804 | Frame-shift |
| ENST00000283713 | 38039756 | 38039855 | In-frame |
| ENST00000383759 | 38039756 | 38039855 | In-frame |
| ENST00000283713 | 38042946 | 38043084 | In-frame |
| ENST00000383759 | 38042946 | 38043084 | In-frame |
| ENST00000283713 | 38043886 | 38044066 | In-frame |
| ENST00000383759 | 38043886 | 38044066 | 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 |
| ENST00000283713 | 38035751 | 38035957 | Frame-shift |
| ENST00000383759 | 38035751 | 38035957 | Frame-shift |
| ENST00000283713 | 38037229 | 38037338 | Frame-shift |
| ENST00000383759 | 38037229 | 38037338 | Frame-shift |
| ENST00000283713 | 38039580 | 38039659 | Frame-shift |
| ENST00000383759 | 38039580 | 38039659 | Frame-shift |
| ENST00000283713 | 38044658 | 38044804 | Frame-shift |
| ENST00000383759 | 38044658 | 38044804 | Frame-shift |
| ENST00000283713 | 38039756 | 38039855 | In-frame |
| ENST00000383759 | 38039756 | 38039855 | In-frame |
| ENST00000283713 | 38042946 | 38043084 | In-frame |
| ENST00000383759 | 38042946 | 38043084 | In-frame |
| ENST00000283713 | 38043886 | 38044066 | In-frame |
| ENST00000383759 | 38043886 | 38044066 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VILL |
| 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 |
| ENST00000283713 | 2987 | 856 | 38039756 | 38039855 | 1110 | 1208 | 281 | 314 |
| ENST00000383759 | 2804 | 856 | 38039756 | 38039855 | 930 | 1028 | 281 | 314 |
| ENST00000283713 | 2987 | 856 | 38042946 | 38043084 | 1449 | 1586 | 394 | 440 |
| ENST00000383759 | 2804 | 856 | 38042946 | 38043084 | 1269 | 1406 | 394 | 440 |
| ENST00000283713 | 2987 | 856 | 38043886 | 38044066 | 1746 | 1925 | 493 | 553 |
| ENST00000383759 | 2804 | 856 | 38043886 | 38044066 | 1566 | 1745 | 493 | 553 |
| 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 |
| ENST00000283713 | 2987 | 856 | 38039756 | 38039855 | 1110 | 1208 | 281 | 314 |
| ENST00000383759 | 2804 | 856 | 38039756 | 38039855 | 930 | 1028 | 281 | 314 |
| ENST00000283713 | 2987 | 856 | 38042946 | 38043084 | 1449 | 1586 | 394 | 440 |
| ENST00000383759 | 2804 | 856 | 38042946 | 38043084 | 1269 | 1406 | 394 | 440 |
| ENST00000283713 | 2987 | 856 | 38043886 | 38044066 | 1746 | 1925 | 493 | 553 |
| ENST00000383759 | 2804 | 856 | 38043886 | 38044066 | 1566 | 1745 | 493 | 553 |
| 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 |
| O15195 | 281 | 314 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 281 | 314 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 281 | 314 | 263 | 307 | Repeat | Note=Gelsolin-like 3 |
| O15195 | 281 | 314 | 263 | 307 | Repeat | Note=Gelsolin-like 3 |
| O15195 | 394 | 440 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 394 | 440 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 394 | 440 | 401 | 450 | Repeat | Note=Gelsolin-like 4 |
| O15195 | 394 | 440 | 401 | 450 | Repeat | Note=Gelsolin-like 4 |
| O15195 | 493 | 553 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 493 | 553 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 493 | 553 | 521 | 561 | Repeat | Note=Gelsolin-like 5 |
| O15195 | 493 | 553 | 521 | 561 | Repeat | Note=Gelsolin-like 5 |
| 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 |
| O15195 | 281 | 314 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 281 | 314 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 281 | 314 | 263 | 307 | Repeat | Note=Gelsolin-like 3 |
| O15195 | 281 | 314 | 263 | 307 | Repeat | Note=Gelsolin-like 3 |
| O15195 | 394 | 440 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 394 | 440 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 394 | 440 | 401 | 450 | Repeat | Note=Gelsolin-like 4 |
| O15195 | 394 | 440 | 401 | 450 | Repeat | Note=Gelsolin-like 4 |
| O15195 | 493 | 553 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 493 | 553 | 1 | 856 | Chain | ID=PRO_0000218738;Note=Villin-like protein |
| O15195 | 493 | 553 | 521 | 561 | Repeat | Note=Gelsolin-like 5 |
| O15195 | 493 | 553 | 521 | 561 | Repeat | Note=Gelsolin-like 5 |
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SNVs in the skipped exons for VILL |
| - 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_372814 | 38037230 | 38037338 | 38037261 | 38037261 | Frame_Shift_Del | A | - | p.K125fs |
| BRCA | TCGA-BH-A0BA-01 | exon_skip_372822 | 38039757 | 38039855 | 38039827 | 38039827 | Frame_Shift_Del | A | - | p.E305fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_372833 | 38044659 | 38044804 | 38044726 | 38044726 | Frame_Shift_Del | A | - | p.E576fs |
| BLCA | TCGA-YC-A9TC-01 | exon_skip_372817 | 38039581 | 38039659 | 38039624 | 38039625 | Frame_Shift_Ins | - | C | p.T270fs |
| STAD | TCGA-BR-4361-01 | exon_skip_372817 | 38039581 | 38039659 | 38039624 | 38039625 | Frame_Shift_Ins | - | C | p.T270fs |
| STAD | TCGA-BR-8363-01 | exon_skip_372817 | 38039581 | 38039659 | 38039624 | 38039625 | Frame_Shift_Ins | - | C | p.T270fs |
| STAD | TCGA-BR-4361-01 | exon_skip_372817 | 38039581 | 38039659 | 38039625 | 38039626 | Frame_Shift_Ins | - | C | p.T270fs |
| STAD | TCGA-BR-8363-01 | exon_skip_372817 | 38039581 | 38039659 | 38039625 | 38039626 | Frame_Shift_Ins | - | C | p.T270fs |
| - 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 |
| 2313287_STOMACH | 38035752 | 38035957 | 38035877 | 38035877 | Frame_Shift_Del | G | - | p.L87fs |
| CL34_LARGE_INTESTINE | 38039581 | 38039659 | 38039625 | 38039625 | Frame_Shift_Del | C | - | p.T270fs |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38044659 | 38044804 | 38044783 | 38044783 | Frame_Shift_Del | C | - | p.A595fs |
| HEC151_ENDOMETRIUM | 38039581 | 38039659 | 38039624 | 38039625 | Frame_Shift_Ins | - | C | p.T270fs |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38039581 | 38039659 | 38039624 | 38039625 | Frame_Shift_Ins | - | C | p.T270fs |
| MDST8_LARGE_INTESTINE | 38037230 | 38037338 | 38037277 | 38037278 | Missense_Mutation | AC | TT | p.N130I |
| SH4_SKIN | 38039581 | 38039659 | 38039624 | 38039624 | Missense_Mutation | A | C | p.T270P |
| QGP1_PANCREAS | 38039581 | 38039659 | 38039631 | 38039631 | Missense_Mutation | C | A | p.P272Q |
| NCIH2172_LUNG | 38039757 | 38039855 | 38039805 | 38039805 | Missense_Mutation | G | A | p.G298R |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 38039757 | 38039855 | 38039834 | 38039834 | Missense_Mutation | G | C | p.K307N |
| HCC515_LUNG | 38039757 | 38039855 | 38039846 | 38039846 | Missense_Mutation | C | A | p.S311R |
| MCC13_SKIN | 38043887 | 38044066 | 38043991 | 38043992 | Missense_Mutation | CC | TT | p.R529C |
| MCC13_SKIN | 38043887 | 38044066 | 38043992 | 38043992 | Missense_Mutation | C | T | p.R529C |
| HS683_CENTRAL_NERVOUS_SYSTEM | 38044659 | 38044804 | 38044750 | 38044750 | Missense_Mutation | C | T | p.P584L |
| SW1271_LUNG | 38044659 | 38044804 | 38044770 | 38044770 | Missense_Mutation | C | G | p.L591V |
| LS411N_LARGE_INTESTINE | 38035752 | 38035957 | 38035776 | 38035776 | Nonsense_Mutation | C | T | p.Q54* |
| MDST8_LARGE_INTESTINE | 38042947 | 38043084 | 38043043 | 38043043 | Nonsense_Mutation | C | T | p.Q427* |
| SNUC5_LARGE_INTESTINE | 38035752 | 38035957 | 38035956 | 38035956 | Splice_Site | A | T | p.I114F |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VILL |
| 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 VILL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VILL |
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RelatedDrugs for VILL |
| 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 VILL |
| 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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