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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 AVIL |
 Gene summary |
| Gene information | Gene symbol | AVIL | Gene ID | 10677 |
| Gene name | advillin | |
| Synonyms | ADVIL|DOC6|p92 | |
| Cytomap | 12q14.1 | |
| Type of gene | protein-coding | |
| Description | advillin | |
| Modification date | 20180519 | |
| UniProtAcc | O75366 | |
| Context | PubMed: AVIL [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 AVIL 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 AVIL |
| 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 AVIL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94403 | 12 | 58191664:58191778:58193577:58193703:58194926:58194995 | 58193577:58193703 | ENSG00000135407.6 | ENST00000257861.3,ENST00000551248.1,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94404 | 12 | 58194926:58194995:58195942:58196131:58197029:58197174 | 58195942:58196131 | ENSG00000135407.6 | ENST00000257861.3,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94405 | 12 | 58197078:58197174:58197306:58197452:58200142:58200272 | 58197306:58197452 | ENSG00000135407.6 | ENST00000257861.3,ENST00000550537.1,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94408 | 12 | 58200142:58200322:58201113:58201510:58201976:58202077 | 58201113:58201510 | ENSG00000135407.6 | ENST00000550537.1 |
| exon_skip_94415 | 12 | 58203379:58203478:58203594:58203673:58204131:58204334 | 58203594:58203673 | ENSG00000135407.6 | ENST00000257861.3,ENST00000548843.1,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94417 | 12 | 58203594:58203673:58204131:58204334:58204598:58204709 | 58204131:58204334 | ENSG00000135407.6 | ENST00000257861.3,ENST00000548843.1,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94418 | 12 | 58204801:58204910:58207009:58207206:58207934:58208009 | 58207009:58207206 | ENSG00000135407.6 | ENST00000257861.3,ENST00000549994.1,ENST00000548843.1,ENST00000537081.1,ENST00000549851.1 |
| exon_skip_94421 | 12 | 58207934:58208009:58209360:58209475:58209757:58209841 | 58209360:58209475 | ENSG00000135407.6 | ENST00000549851.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for AVIL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_94403 | 12 | 58191664:58191778:58193577:58193703:58194926:58194995 | 58193577:58193703 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000551248.1,ENST00000257861.3 |
| exon_skip_94404 | 12 | 58194926:58194995:58195942:58196131:58197029:58197174 | 58195942:58196131 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000257861.3 |
| exon_skip_94405 | 12 | 58197078:58197174:58197306:58197452:58200142:58200272 | 58197306:58197452 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000257861.3,ENST00000550537.1 |
| exon_skip_94408 | 12 | 58200142:58200322:58201113:58201510:58201976:58202077 | 58201113:58201510 | ENSG00000135407.6 | ENST00000550537.1 |
| exon_skip_94415 | 12 | 58203379:58203478:58203594:58203673:58204131:58204334 | 58203594:58203673 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000257861.3,ENST00000548843.1 |
| exon_skip_94417 | 12 | 58203594:58203673:58204131:58204334:58204598:58204709 | 58204131:58204334 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000257861.3,ENST00000548843.1 |
| exon_skip_94418 | 12 | 58204801:58204910:58207009:58207206:58207934:58208009 | 58207009:58207206 | ENSG00000135407.6 | ENST00000537081.1,ENST00000549851.1,ENST00000257861.3,ENST00000548843.1,ENST00000549994.1 |
| exon_skip_94421 | 12 | 58207934:58208009:58209360:58209475:58209757:58209841 | 58209360:58209475 | ENSG00000135407.6 | ENST00000549851.1 |
| 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 AVIL |
| 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 |
| ENST00000257861 | 58197306 | 58197452 | Frame-shift |
| ENST00000257861 | 58203594 | 58203673 | Frame-shift |
| ENST00000257861 | 58204131 | 58204334 | Frame-shift |
| ENST00000257861 | 58207009 | 58207206 | Frame-shift |
| ENST00000257861 | 58193577 | 58193703 | In-frame |
| ENST00000257861 | 58195942 | 58196131 | 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 |
| ENST00000257861 | 58197306 | 58197452 | Frame-shift |
| ENST00000257861 | 58203594 | 58203673 | Frame-shift |
| ENST00000257861 | 58204131 | 58204334 | Frame-shift |
| ENST00000257861 | 58207009 | 58207206 | Frame-shift |
| ENST00000257861 | 58193577 | 58193703 | In-frame |
| ENST00000257861 | 58195942 | 58196131 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AVIL |
| 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 |
| ENST00000257861 | 2908 | 819 | 58195942 | 58196131 | 2394 | 2582 | 654 | 717 |
| ENST00000257861 | 2908 | 819 | 58193577 | 58193703 | 2652 | 2777 | 740 | 782 |
| 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 |
| ENST00000257861 | 2908 | 819 | 58195942 | 58196131 | 2394 | 2582 | 654 | 717 |
| ENST00000257861 | 2908 | 819 | 58193577 | 58193703 | 2652 | 2777 | 740 | 782 |
| 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 |
| O75366 | 654 | 717 | 1 | 819 | Chain | ID=PRO_0000218736;Note=Advillin |
| O75366 | 654 | 717 | 1 | 731 | Region | Note=Core;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75366 | 654 | 717 | 628 | 669 | Repeat | Note=Gelsolin-like 6 |
| O75366 | 740 | 782 | 1 | 819 | Chain | ID=PRO_0000218736;Note=Advillin |
| O75366 | 740 | 782 | 753 | 819 | Domain | Note=HP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00595 |
| O75366 | 740 | 782 | 758 | 758 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88398 |
| O75366 | 740 | 782 | 731 | 819 | Region | Note=Headpiece;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| O75366 | 654 | 717 | 1 | 819 | Chain | ID=PRO_0000218736;Note=Advillin |
| O75366 | 654 | 717 | 1 | 731 | Region | Note=Core;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O75366 | 654 | 717 | 628 | 669 | Repeat | Note=Gelsolin-like 6 |
| O75366 | 740 | 782 | 1 | 819 | Chain | ID=PRO_0000218736;Note=Advillin |
| O75366 | 740 | 782 | 753 | 819 | Domain | Note=HP;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00595 |
| O75366 | 740 | 782 | 758 | 758 | Modified residue | Note=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88398 |
| O75366 | 740 | 782 | 731 | 819 | Region | Note=Headpiece;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for AVIL |
| - 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 |
| ESCA | TCGA-VR-AA7D-01 | exon_skip_94417 | 58204132 | 58204334 | 58204330 | 58204330 | Frame_Shift_Del | A | - | p.M188fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_94418 | 58207010 | 58207206 | 58207152 | 58207152 | Frame_Shift_Del | C | - | p.D59fs |
| DLBC | TCGA-GS-A9TW-01 | exon_skip_94405 | 58197307 | 58197452 | 58197374 | 58197374 | Nonsense_Mutation | C | A | p.E584X |
| BLCA | TCGA-K4-A54R-01 | exon_skip_94417 | 58204132 | 58204334 | 58204310 | 58204310 | Nonsense_Mutation | G | A | p.R188* |
| KIRC | TCGA-BP-5185-01 | exon_skip_94418 | 58207010 | 58207206 | 58207208 | 58207208 | Splice_Site | T | C | . |
| - 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 |
| SNU407_LARGE_INTESTINE | 58203595 | 58203673 | 58203642 | 58203642 | Frame_Shift_Del | T | - | p.T265fs |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58197307 | 58197452 | 58197323 | 58197323 | Missense_Mutation | A | G | p.Y601H |
| ECC10_STOMACH | 58197307 | 58197452 | 58197323 | 58197323 | Missense_Mutation | A | G | p.Y601H |
| KNS42_CENTRAL_NERVOUS_SYSTEM | 58197307 | 58197452 | 58197323 | 58197323 | Missense_Mutation | A | G | p.Y601H |
| ES8_BONE | 58197307 | 58197452 | 58197395 | 58197395 | Missense_Mutation | C | T | p.G577S |
| NCIH1618_LUNG | 58197307 | 58197452 | 58197419 | 58197419 | Missense_Mutation | C | G | p.E569Q |
| SNU175_LARGE_INTESTINE | 58197307 | 58197452 | 58197434 | 58197434 | Missense_Mutation | G | A | p.R564W |
| HEC108_ENDOMETRIUM | 58197307 | 58197452 | 58197446 | 58197446 | Missense_Mutation | T | C | p.S560G |
| NCIH2452_PLEURA | 58201114 | 58201510 | 58201118 | 58201118 | Missense_Mutation | A | G | p.F496S |
| SIHA_CERVIX | 58201114 | 58201510 | 58201392 | 58201392 | Missense_Mutation | T | G | p.H438P |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58201114 | 58201510 | 58201399 | 58201399 | Missense_Mutation | G | A | p.P436S |
| RPMI8866_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58201114 | 58201510 | 58201449 | 58201449 | Missense_Mutation | T | C | p.Y419C |
| CHLA9_BONE | 58201114 | 58201510 | 58201500 | 58201500 | Missense_Mutation | A | G | p.I402T |
| 253J_URINARY_TRACT | 58204132 | 58204334 | 58204174 | 58204174 | Missense_Mutation | T | C | p.E240G |
| 253JBV_URINARY_TRACT | 58204132 | 58204334 | 58204174 | 58204174 | Missense_Mutation | T | C | p.E240G |
| CADOES1_BONE | 58204132 | 58204334 | 58204207 | 58204207 | Missense_Mutation | C | T | p.R229Q |
| HCT15_LARGE_INTESTINE | 58204132 | 58204334 | 58204230 | 58204230 | Missense_Mutation | C | A | p.K221N |
| EB3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58204132 | 58204334 | 58204297 | 58204297 | Missense_Mutation | C | T | p.R199Q |
| TGBC1TKB_BILIARY_TRACT | 58204132 | 58204334 | 58204312 | 58204312 | Missense_Mutation | A | G | p.I194T |
| HT115_LARGE_INTESTINE | 58207010 | 58207206 | 58207056 | 58207056 | Missense_Mutation | A | G | p.Y98H |
| NCIH1963_LUNG | 58207010 | 58207206 | 58207096 | 58207096 | Missense_Mutation | G | C | p.D84E |
| NCIH2286_LUNG | 58207010 | 58207206 | 58207121 | 58207121 | Missense_Mutation | G | A | p.A76V |
| HEC59_ENDOMETRIUM | 58207010 | 58207206 | 58207172 | 58207172 | Missense_Mutation | A | T | p.I59N |
| CHL1_SKIN | 58207010 | 58207206 | 58207190 | 58207190 | Missense_Mutation | C | T | p.S53N |
| MELHO_SKIN | 58207010 | 58207206 | 58207190 | 58207190 | Missense_Mutation | C | T | p.S53N |
| NCIH716_LARGE_INTESTINE | 58207010 | 58207206 | 58207190 | 58207190 | Missense_Mutation | C | T | p.S53N |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 58201114 | 58201510 | 58201468 | 58201468 | Nonsense_Mutation | G | A | p.Q413* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for AVIL |
| 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 AVIL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for AVIL |
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RelatedDrugs for AVIL |
| 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 AVIL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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