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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 ANO10 |
Gene summary |
| Gene information | Gene symbol | ANO10 | Gene ID | 55129 |
| Gene name | anoctamin 10 | |
| Synonyms | SCAR10|TMEM16K | |
| Cytomap | 3p22.1-p21.33 | |
| Type of gene | protein-coding | |
| Description | anoctamin-10transmembrane protein 16K | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NW15 | |
| Context | PubMed: ANO10 [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 |
| ANO10 | GO:0006812 | cation transport | 22946059 |
| ANO10 | GO:0006821 | chloride transport | 22946059 |
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Exon skipping events across known transcript of Ensembl for ANO10 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 ANO10 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ANO10 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382624 | 3 | 43408380:43408466:43414219:43414339:43591211:43591340 | 43414219:43414339 | ENSG00000160746.8 | ENST00000414522.2 |
| exon_skip_382636 | 3 | 43408380:43408466:43474102:43474219:43591211:43591340 | 43474102:43474219 | ENSG00000160746.8 | ENST00000350459.4,ENST00000451430.2,ENST00000448045.1,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382645 | 3 | 43591211:43591340:43592963:43593080:43596769:43596903 | 43592963:43593080 | ENSG00000160746.8 | ENST00000448045.1 |
| exon_skip_382647 | 3 | 43591211:43591340:43596769:43596961:43602711:43602894 | 43596769:43596961 | ENSG00000160746.8 | ENST00000414522.2,ENST00000350459.4,ENST00000451430.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382650 | 3 | 43596769:43596961:43602711:43602894:43607144:43607219 | 43602711:43602894 | ENSG00000160746.8 | ENST00000414522.2,ENST00000350459.4,ENST00000451430.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382651 | 3 | 43602864:43602894:43607144:43607219:43616300:43616356 | 43607144:43607219 | ENSG00000160746.8 | ENST00000414522.2,ENST00000350459.4,ENST00000451430.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382653 | 3 | 43602864:43602894:43607144:43607219:43640023:43640158 | 43607144:43607219 | ENSG00000160746.8 | ENST00000427171.1 |
| exon_skip_382657 | 3 | 43607144:43607219:43616300:43616356:43618183:43618753 | 43616300:43616356 | ENSG00000160746.8 | ENST00000414522.2,ENST00000451430.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382658 | 3 | 43607144:43607219:43616300:43616356:43621844:43621964 | 43616300:43616356 | ENSG00000160746.8 | ENST00000350459.4 |
| exon_skip_382664 | 3 | 43616300:43616356:43618183:43618753:43621844:43621964 | 43618183:43618753 | ENSG00000160746.8 | ENST00000414522.2,ENST00000451430.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382667 | 3 | 43616300:43616356:43621844:43621964:43640023:43640158 | 43621844:43621964 | ENSG00000160746.8 | ENST00000350459.4 |
| exon_skip_382668 | 3 | 43618526:43618753:43621844:43621964:43640023:43640158 | 43621844:43621964 | ENSG00000160746.8 | ENST00000414522.2,ENST00000396091.3,ENST00000292246.3 |
| exon_skip_382669 | 3 | 43621844:43621964:43640023:43640158:43647205:43647355 | 43640023:43640158 | ENSG00000160746.8 | ENST00000396091.3 |
| exon_skip_382670 | 3 | 43640093:43640158:43641875:43642073:43647205:43647355 | 43641875:43642073 | ENSG00000160746.8 | ENST00000413397.1,ENST00000414522.2,ENST00000439141.1,ENST00000427171.1,ENST00000350459.4,ENST00000444344.1,ENST00000456438.1,ENST00000292246.3 |
| exon_skip_382671 | 3 | 43647228:43647355:43659511:43659578:43663400:43663444 | 43659511:43659578 | ENSG00000160746.8 | ENST00000456438.1 |
| exon_skip_382672 | 3 | 43647228:43647355:43694438:43694532:43733008:43733061 | 43694438:43694532 | ENSG00000160746.8 | ENST00000439141.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANO10 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382624 | 3 | 43408380:43408466:43414219:43414339:43591211:43591340 | 43414219:43414339 | ENSG00000160746.8 | ENST00000414522.2 |
| exon_skip_382636 | 3 | 43408380:43408466:43474102:43474219:43591211:43591340 | 43474102:43474219 | ENSG00000160746.8 | ENST00000292246.3,ENST00000350459.4,ENST00000396091.3,ENST00000451430.2,ENST00000448045.1 |
| exon_skip_382645 | 3 | 43591211:43591340:43592963:43593080:43596769:43596903 | 43592963:43593080 | ENSG00000160746.8 | ENST00000448045.1 |
| exon_skip_382647 | 3 | 43591211:43591340:43596769:43596961:43602711:43602894 | 43596769:43596961 | ENSG00000160746.8 | ENST00000292246.3,ENST00000350459.4,ENST00000396091.3,ENST00000414522.2,ENST00000451430.2 |
| exon_skip_382650 | 3 | 43596769:43596961:43602711:43602894:43607144:43607219 | 43602711:43602894 | ENSG00000160746.8 | ENST00000292246.3,ENST00000350459.4,ENST00000396091.3,ENST00000414522.2,ENST00000451430.2 |
| exon_skip_382651 | 3 | 43602864:43602894:43607144:43607219:43616300:43616356 | 43607144:43607219 | ENSG00000160746.8 | ENST00000292246.3,ENST00000350459.4,ENST00000396091.3,ENST00000414522.2,ENST00000451430.2 |
| exon_skip_382653 | 3 | 43602864:43602894:43607144:43607219:43640023:43640158 | 43607144:43607219 | ENSG00000160746.8 | ENST00000427171.1 |
| exon_skip_382657 | 3 | 43607144:43607219:43616300:43616356:43618183:43618753 | 43616300:43616356 | ENSG00000160746.8 | ENST00000292246.3,ENST00000396091.3,ENST00000414522.2,ENST00000451430.2 |
| exon_skip_382658 | 3 | 43607144:43607219:43616300:43616356:43621844:43621964 | 43616300:43616356 | ENSG00000160746.8 | ENST00000350459.4 |
| exon_skip_382664 | 3 | 43616300:43616356:43618183:43618753:43621844:43621964 | 43618183:43618753 | ENSG00000160746.8 | ENST00000292246.3,ENST00000396091.3,ENST00000414522.2,ENST00000451430.2 |
| exon_skip_382667 | 3 | 43616300:43616356:43621844:43621964:43640023:43640158 | 43621844:43621964 | ENSG00000160746.8 | ENST00000350459.4 |
| exon_skip_382668 | 3 | 43618526:43618753:43621844:43621964:43640023:43640158 | 43621844:43621964 | ENSG00000160746.8 | ENST00000292246.3,ENST00000396091.3,ENST00000414522.2 |
| exon_skip_382669 | 3 | 43621844:43621964:43640023:43640158:43647205:43647355 | 43640023:43640158 | ENSG00000160746.8 | ENST00000396091.3 |
| exon_skip_382670 | 3 | 43640093:43640158:43641875:43642073:43647205:43647355 | 43641875:43642073 | ENSG00000160746.8 | ENST00000292246.3,ENST00000350459.4,ENST00000414522.2,ENST00000427171.1,ENST00000444344.1,ENST00000456438.1,ENST00000413397.1,ENST00000439141.1 |
| exon_skip_382671 | 3 | 43647228:43647355:43659511:43659578:43663400:43663444 | 43659511:43659578 | ENSG00000160746.8 | ENST00000456438.1 |
| exon_skip_382672 | 3 | 43647228:43647355:43694438:43694532:43733008:43733061 | 43694438:43694532 | ENSG00000160746.8 | ENST00000439141.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ANO10 |
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 |
| ENST00000292246 | 43616300 | 43616356 | Frame-shift |
| ENST00000292246 | 43474102 | 43474219 | In-frame |
| ENST00000292246 | 43596769 | 43596961 | In-frame |
| ENST00000292246 | 43602711 | 43602894 | In-frame |
| ENST00000292246 | 43607144 | 43607219 | In-frame |
| ENST00000292246 | 43618183 | 43618753 | In-frame |
| ENST00000292246 | 43621844 | 43621964 | In-frame |
| ENST00000292246 | 43641875 | 43642073 | 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 |
| ENST00000292246 | 43616300 | 43616356 | Frame-shift |
| ENST00000292246 | 43474102 | 43474219 | In-frame |
| ENST00000292246 | 43596769 | 43596961 | In-frame |
| ENST00000292246 | 43602711 | 43602894 | In-frame |
| ENST00000292246 | 43607144 | 43607219 | In-frame |
| ENST00000292246 | 43618183 | 43618753 | In-frame |
| ENST00000292246 | 43621844 | 43621964 | In-frame |
| ENST00000292246 | 43641875 | 43642073 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANO10 |
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 |
| ENST00000292246 | 3229 | 660 | 43641875 | 43642073 | 311 | 508 | 46 | 112 |
| ENST00000292246 | 3229 | 660 | 43621844 | 43621964 | 644 | 763 | 157 | 197 |
| ENST00000292246 | 3229 | 660 | 43618183 | 43618753 | 764 | 1333 | 197 | 387 |
| ENST00000292246 | 3229 | 660 | 43607144 | 43607219 | 1390 | 1464 | 406 | 431 |
| ENST00000292246 | 3229 | 660 | 43602711 | 43602894 | 1465 | 1647 | 431 | 492 |
| ENST00000292246 | 3229 | 660 | 43596769 | 43596961 | 1648 | 1839 | 492 | 556 |
| ENST00000292246 | 3229 | 660 | 43474102 | 43474219 | 1969 | 2085 | 599 | 638 |
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 |
| ENST00000292246 | 3229 | 660 | 43641875 | 43642073 | 311 | 508 | 46 | 112 |
| ENST00000292246 | 3229 | 660 | 43621844 | 43621964 | 644 | 763 | 157 | 197 |
| ENST00000292246 | 3229 | 660 | 43618183 | 43618753 | 764 | 1333 | 197 | 387 |
| ENST00000292246 | 3229 | 660 | 43607144 | 43607219 | 1390 | 1464 | 406 | 431 |
| ENST00000292246 | 3229 | 660 | 43602711 | 43602894 | 1465 | 1647 | 431 | 492 |
| ENST00000292246 | 3229 | 660 | 43596769 | 43596961 | 1648 | 1839 | 492 | 556 |
| ENST00000292246 | 3229 | 660 | 43474102 | 43474219 | 1969 | 2085 | 599 | 638 |
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 |
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 |
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SNVs in the skipped exons for ANO10 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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-A3A0-01 | exon_skip_382636 | 43474103 | 43474219 | 43474148 | 43474148 | Frame_Shift_Del | T | - | p.K623fs |
| HNSC | TCGA-BA-4078-01 | exon_skip_382636 | 43474103 | 43474219 | 43474181 | 43474181 | Frame_Shift_Del | G | - | p.A612fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_382647 | 43596770 | 43596961 | 43596812 | 43596812 | Frame_Shift_Del | T | - | p.K542fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_382650 | 43602712 | 43602894 | 43602819 | 43602819 | Frame_Shift_Del | T | - | p.R457fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_382653 exon_skip_382651 | 43607145 | 43607219 | 43607175 | 43607175 | Frame_Shift_Del | A | - | p.F421fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382653 exon_skip_382651 | 43607145 | 43607219 | 43607175 | 43607175 | Frame_Shift_Del | A | - | p.F421fs |
| KICH | TCGA-KM-8442-01 | exon_skip_382653 exon_skip_382651 | 43607145 | 43607219 | 43607195 | 43607195 | Frame_Shift_Del | A | - | p.S415fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_382664 | 43618184 | 43618753 | 43618438 | 43618438 | Frame_Shift_Del | G | - | p.P303fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382664 | 43618184 | 43618753 | 43618493 | 43618493 | Frame_Shift_Del | G | - | p.R285fs |
| UCEC | TCGA-A5-A0G9-01 | exon_skip_382664 | 43618184 | 43618753 | 43618493 | 43618493 | Frame_Shift_Del | G | - | p.R285fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_382664 | 43618184 | 43618753 | 43618507 | 43618507 | Frame_Shift_Del | T | - | p.K280fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_382664 | 43618184 | 43618753 | 43618702 | 43618702 | Frame_Shift_Del | A | - | p.L215fs |
| COAD | TCGA-G4-6628-01 | exon_skip_382670 | 43641876 | 43642073 | 43641880 | 43641880 | Frame_Shift_Del | A | - | p.D112fs |
| COAD | TCGA-AZ-6598-01 | exon_skip_382669 | 43640024 | 43640158 | 43640071 | 43640072 | Frame_Shift_Ins | - | T | p.M142fs |
| HNSC | TCGA-CR-7374-01 | exon_skip_382647 | 43596770 | 43596961 | 43596801 | 43596801 | Nonsense_Mutation | G | C | p.S546* |
| READ | TCGA-EI-6917-01 | exon_skip_382650 | 43602712 | 43602894 | 43602729 | 43602729 | Nonsense_Mutation | C | A | p.E297X |
| COAD | TCGA-CA-6717-01 | exon_skip_382650 | 43602712 | 43602894 | 43602846 | 43602846 | Nonsense_Mutation | C | A | p.E258X |
| BLCA | TCGA-FD-A3B4-01 | exon_skip_382664 | 43618184 | 43618753 | 43618536 | 43618536 | Nonsense_Mutation | G | T | p.Y270* |
| LUSC | TCGA-43-2578-01 | exon_skip_382669 | 43640024 | 43640158 | 43640090 | 43640090 | Nonsense_Mutation | T | A | p.R136* |
- 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 |
| SKPNDW_BONE | 43596770 | 43596961 | 43596790 | 43596790 | Missense_Mutation | C | A | p.A550S |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 43596770 | 43596961 | 43596895 | 43596895 | Missense_Mutation | A | G | p.Y515H |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43596770 | 43596961 | 43596945 | 43596945 | Missense_Mutation | T | A | p.Y498F |
| HCT15_LARGE_INTESTINE | 43602712 | 43602894 | 43602791 | 43602791 | Missense_Mutation | T | G | p.K466T |
| SMZ1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43616301 | 43616356 | 43616317 | 43616317 | Missense_Mutation | A | G | p.I401T |
| MFE319_ENDOMETRIUM | 43616301 | 43616356 | 43616317 | 43616317 | Missense_Mutation | A | G | p.I401T |
| SNUC2A_LARGE_INTESTINE | 43616301 | 43616356 | 43616321 | 43616321 | Missense_Mutation | G | C | p.L400V |
| NCIH2081_LUNG | 43618184 | 43618753 | 43618423 | 43618423 | Missense_Mutation | T | C | p.Y308C |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 43618184 | 43618753 | 43618493 | 43618493 | Missense_Mutation | G | A | p.R285W |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43618184 | 43618753 | 43618525 | 43618525 | Missense_Mutation | G | A | p.T274I |
| NCIH345_LUNG | 43618184 | 43618753 | 43618531 | 43618531 | Missense_Mutation | C | A | p.W272L |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43618184 | 43618753 | 43618582 | 43618582 | Missense_Mutation | G | A | p.T255M |
| JHU011_UPPER_AERODIGESTIVE_TRACT | 43618184 | 43618753 | 43618680 | 43618680 | Missense_Mutation | T | A | p.L222F |
| KP4_PANCREAS | 43621845 | 43621964 | 43621902 | 43621902 | Missense_Mutation | G | C | p.L179V |
| COLO783_SKIN | 43640024 | 43640158 | 43640065 | 43640066 | Missense_Mutation | GG | AA | p.P144F |
| COLO783_SKIN | 43640024 | 43640158 | 43640065 | 43640065 | Missense_Mutation | G | A | p.P144L |
| COLO783_SKIN | 43640024 | 43640158 | 43640066 | 43640066 | Missense_Mutation | G | A | p.P144S |
| YH13_CENTRAL_NERVOUS_SYSTEM | 43640024 | 43640158 | 43640093 | 43640093 | Missense_Mutation | G | C | p.L135V |
| ES7_BONE | 43641876 | 43642073 | 43641884 | 43641884 | Missense_Mutation | C | T | p.G110D |
| SNU685_ENDOMETRIUM | 43641876 | 43642073 | 43641891 | 43641891 | Missense_Mutation | A | T | p.F108I |
| KPMRTRY_SOFT_TISSUE | 43641876 | 43642073 | 43641971 | 43641971 | Missense_Mutation | A | G | p.L81P |
| HCC2450_LUNG | 43641876 | 43642073 | 43641999 | 43641999 | Missense_Mutation | C | A | p.V72F |
| CAL12T_LUNG | 43618184 | 43618753 | 43618418 | 43618418 | Nonsense_Mutation | T | A | p.R310* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANO10 |
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 ANO10 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANO10 |
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RelatedDrugs for ANO10 |
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 ANO10 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ANO10 | C3150998 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | 1 | ORPHANET;UNIPROT |