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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 SKIL |
Gene summary |
| Gene information | Gene symbol | SKIL | Gene ID | 6498 |
| Gene name | SKI like proto-oncogene | |
| Synonyms | SNO|SnoA|SnoI|SnoN | |
| Cytomap | 3q26.2 | |
| Type of gene | protein-coding | |
| Description | ski-like proteinSKI-like oncogeneski-related oncogene snoN | |
| Modification date | 20180523 | |
| UniProtAcc | P12757 | |
| Context | PubMed: SKIL [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 SKIL 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 SKIL |
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 SKIL |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379398 | 3 | 170075521:170075551:170077486:170079217:170099031:170099129 | 170077486:170079217 | ENSG00000136603.9 | ENST00000259119.4 |
| exon_skip_379400 | 3 | 170078999:170079217:170099031:170099129:170102320:170102415 | 170099031:170099129 | ENSG00000136603.9 | ENST00000259119.4,ENST00000426052.2,ENST00000458537.3,ENST00000413427.2 |
| exon_skip_379404 | 3 | 170099063:170099129:170102320:170102415:170108010:170108252 | 170102320:170102415 | ENSG00000136603.9 | ENST00000413427.2 |
| exon_skip_379405 | 3 | 170099063:170099129:170102320:170102553:170108010:170108252 | 170102320:170102553 | ENSG00000136603.9 | ENST00000259119.4,ENST00000426052.2,ENST00000458537.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SKIL |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_379398 | 3 | 170075521:170075551:170077486:170079217:170099031:170099129 | 170077486:170079217 | ENSG00000136603.9 | ENST00000259119.4 |
| exon_skip_379400 | 3 | 170078999:170079217:170099031:170099129:170102320:170102415 | 170099031:170099129 | ENSG00000136603.9 | ENST00000259119.4,ENST00000426052.2,ENST00000413427.2,ENST00000458537.3 |
| exon_skip_379404 | 3 | 170099063:170099129:170102320:170102415:170108010:170108252 | 170102320:170102415 | ENSG00000136603.9 | ENST00000413427.2 |
| exon_skip_379405 | 3 | 170099063:170099129:170102320:170102553:170108010:170108252 | 170102320:170102553 | ENSG00000136603.9 | ENST00000259119.4,ENST00000426052.2,ENST00000458537.3 |
| exon_skip_379408 | 3 | 170099063:170099129:170108010:170108252:170108823:170108975 | 170108010:170108252 | ENSG00000136603.9 | ENST00000470571.1 |
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 SKIL |
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 |
| ENST00000259119 | 170077486 | 170079217 | 5CDS-5UTR |
| ENST00000259119 | 170099031 | 170099129 | Frame-shift |
| ENST00000458537 | 170099031 | 170099129 | Frame-shift |
| ENST00000259119 | 170102320 | 170102553 | Frame-shift |
| ENST00000458537 | 170102320 | 170102553 | Frame-shift |
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 |
| ENST00000259119 | 170077486 | 170079217 | 5CDS-5UTR |
| ENST00000259119 | 170099031 | 170099129 | Frame-shift |
| ENST00000458537 | 170099031 | 170099129 | Frame-shift |
| ENST00000259119 | 170102320 | 170102553 | Frame-shift |
| ENST00000458537 | 170102320 | 170102553 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SKIL |
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 |
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 |
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 SKIL |
- 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 |
| MESO | TCGA-UT-A88G-01 | exon_skip_379398 | 170077487 | 170079217 | 170078130 | 170078140 | Frame_Shift_Del | TCCAGACAAAT | - | p.LQTN4fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_379398 | 170077487 | 170079217 | 170078165 | 170078165 | Frame_Shift_Del | A | - | p.K17fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_379398 | 170077487 | 170079217 | 170078165 | 170078165 | Frame_Shift_Del | A | - | p.T15fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_379398 | 170077487 | 170079217 | 170078197 | 170078197 | Frame_Shift_Del | C | - | p.S26fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_379398 | 170077487 | 170079217 | 170078207 | 170078207 | Frame_Shift_Del | A | - | p.K31fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_379398 | 170077487 | 170079217 | 170078207 | 170078207 | Frame_Shift_Del | A | - | p.K31fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_379398 | 170077487 | 170079217 | 170078300 | 170078300 | Frame_Shift_Del | C | - | p.P61fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_379398 | 170077487 | 170079217 | 170078515 | 170078515 | Frame_Shift_Del | C | - | p.G132fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_379405 | 170102321 | 170102553 | 170102467 | 170102467 | Frame_Shift_Del | A | - | p.Q448fs |
| KIRC | TCGA-A3-A8OW-01 | exon_skip_379398 | 170077487 | 170079217 | 170078929 | 170078930 | Frame_Shift_Ins | - | A | p.G270fs |
| STAD | TCGA-CG-4305-01 | exon_skip_379405 | 170102321 | 170102553 | 170102466 | 170102467 | Frame_Shift_Ins | - | A | p.Q448fs |
| STAD | TCGA-HF-7132-01 | exon_skip_379405 | 170102321 | 170102553 | 170102466 | 170102467 | Frame_Shift_Ins | - | A | p.Q448fs |
| STAD | TCGA-CG-4305-01 | exon_skip_379405 | 170102321 | 170102553 | 170102467 | 170102468 | Frame_Shift_Ins | - | A | p.Q448fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_379398 | 170077487 | 170079217 | 170078546 | 170078546 | Nonsense_Mutation | G | T | p.E143* |
| LUAD | TCGA-55-A4DF-01 | exon_skip_379398 | 170077487 | 170079217 | 170078703 | 170078703 | Nonsense_Mutation | C | G | p.S195* |
| CESC | TCGA-JW-A5VL-01 | exon_skip_379398 | 170077487 | 170079217 | 170079084 | 170079084 | Nonsense_Mutation | C | G | p.S322* |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_379398 | 170077487 | 170079217 | 170079094 | 170079094 | Nonsense_Mutation | G | A | p.W325* |
| BLCA | TCGA-BT-A42B-01 | exon_skip_379400 | 170099032 | 170099129 | 170099114 | 170099114 | Nonsense_Mutation | C | G | p.S394* |
- 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 |
| AN3CA_ENDOMETRIUM | 170077487 | 170079217 | 170078197 | 170078197 | Frame_Shift_Del | C | - | p.S26fs |
| SNU175_LARGE_INTESTINE | 170077487 | 170079217 | 170078207 | 170078207 | Frame_Shift_Del | A | - | p.K31fs |
| SUDHL8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170077487 | 170079217 | 170078673 | 170078673 | Frame_Shift_Del | C | - | p.T185fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 170077487 | 170079217 | 170078740 | 170078740 | Frame_Shift_Del | A | - | p.V207fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 170077487 | 170079217 | 170078746 | 170078746 | Frame_Shift_Del | C | - | p.G209fs |
| NCIH82_LUNG | 170077487 | 170079217 | 170078825 | 170078825 | Frame_Shift_Del | C | - | p.P236fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 170077487 | 170079217 | 170078742 | 170078743 | Frame_Shift_Ins | - | TA | p.G209fs |
| M980513_SKIN | 170077487 | 170079217 | 170078198 | 170078198 | Missense_Mutation | C | T | p.P27S |
| SKMEL28_SKIN | 170077487 | 170079217 | 170078223 | 170078223 | Missense_Mutation | A | G | p.D35G |
| CCK81_LARGE_INTESTINE | 170077487 | 170079217 | 170078229 | 170078229 | Missense_Mutation | A | C | p.H37P |
| UBLC1_URINARY_TRACT | 170077487 | 170079217 | 170078255 | 170078255 | Missense_Mutation | G | A | p.V46M |
| SUPT11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170077487 | 170079217 | 170078255 | 170078255 | Missense_Mutation | G | A | p.V46M |
| RKO_LARGE_INTESTINE | 170077487 | 170079217 | 170078256 | 170078256 | Missense_Mutation | T | C | p.V46A |
| HEC251_ENDOMETRIUM | 170077487 | 170079217 | 170078365 | 170078365 | Missense_Mutation | A | C | p.L82F |
| HCC2450_LUNG | 170077487 | 170079217 | 170078501 | 170078501 | Missense_Mutation | C | G | p.Q128E |
| COLO680N_OESOPHAGUS | 170077487 | 170079217 | 170078507 | 170078507 | Missense_Mutation | C | G | p.L130V |
| HCC2998_LARGE_INTESTINE | 170077487 | 170079217 | 170078634 | 170078634 | Missense_Mutation | A | G | p.N172S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170077487 | 170079217 | 170078765 | 170078765 | Missense_Mutation | C | A | p.P216T |
| SNU1040_LARGE_INTESTINE | 170077487 | 170079217 | 170078822 | 170078822 | Missense_Mutation | C | T | p.R235W |
| A388_SKIN | 170077487 | 170079217 | 170078862 | 170078862 | Missense_Mutation | C | T | p.A248V |
| MZ7MEL_SKIN | 170077487 | 170079217 | 170078895 | 170078895 | Missense_Mutation | G | A | p.G259D |
| KYSE270_OESOPHAGUS | 170077487 | 170079217 | 170078978 | 170078978 | Missense_Mutation | C | T | p.P287S |
| HEYA8_OVARY | 170077487 | 170079217 | 170079018 | 170079018 | Missense_Mutation | C | T | p.P300L |
| HEY_OVARY | 170077487 | 170079217 | 170079018 | 170079018 | Missense_Mutation | C | T | p.P300L |
| CW2_LARGE_INTESTINE | 170077487 | 170079217 | 170079066 | 170079066 | Missense_Mutation | G | A | p.C316Y |
| UACC812_BREAST | 170077487 | 170079217 | 170079128 | 170079128 | Missense_Mutation | G | A | p.G337R |
| HCC2998_LARGE_INTESTINE | 170077487 | 170079217 | 170079145 | 170079145 | Missense_Mutation | G | T | p.K342N |
| HT55_LARGE_INTESTINE | 170077487 | 170079217 | 170079163 | 170079163 | Missense_Mutation | A | T | p.L348F |
| MERO41_LUNG | 170077487 | 170079217 | 170079170 | 170079170 | Missense_Mutation | A | C | p.M351L |
| SNU324_PANCREAS | 170077487 | 170079217 | 170079182 | 170079182 | Missense_Mutation | T | G | p.F355V |
| HCC2998_LARGE_INTESTINE | 170077487 | 170079217 | 170079206 | 170079206 | Missense_Mutation | A | G | p.N363D |
| HEC251_ENDOMETRIUM | 170099032 | 170099129 | 170099048 | 170099048 | Missense_Mutation | G | T | p.G372V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 170099032 | 170099129 | 170099074 | 170099074 | Missense_Mutation | G | T | p.V381F |
| SNU1040_LARGE_INTESTINE | 170099032 | 170099129 | 170099086 | 170099086 | Missense_Mutation | G | A | p.E385K |
| HCC15_LUNG | 170102321 | 170102415 | 170102376 | 170102376 | Missense_Mutation | G | T | p.A418S |
| HCC15_LUNG | 170102321 | 170102553 | 170102376 | 170102376 | Missense_Mutation | G | T | p.A418S |
| NOS1_BONE | 170102321 | 170102553 | 170102508 | 170102508 | Missense_Mutation | G | C | p.E462Q |
| TE15_OESOPHAGUS | 170077487 | 170079217 | 170078703 | 170078703 | Nonsense_Mutation | C | G | p.S195* |
| NCIH854_LUNG | 170077487 | 170079217 | 170079217 | 170079218 | Splice_Site | - | A | p.T367fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SKIL |
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 |
| exon_skip_379398 | 3 | 170075521:170075551:170077486:170079217:170099031:170099129 | 170077486:170079217 | ENST00000259119.4 | COAD | rs3772173 | chr3:170078232 | C/T | 9.22e-04 |
| exon_skip_379398 | 3 | 170075521:170075551:170077486:170079217:170099031:170099129 | 170077486:170079217 | ENST00000259119.4 | THCA | rs3772173 | chr3:170078232 | C/T | 1.68e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SKIL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SKIL |
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RelatedDrugs for SKIL |
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 SKIL |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SKIL | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| SKIL | C0037274 | Dermatologic disorders | 1 | CTD_human |
| SKIL | C0311375 | Arsenic Poisoning | 1 | CTD_human |
| SKIL | C2931434 | Paraquat lung | 1 | CTD_human |