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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 CYLD |
 Gene summary |
| Gene information | Gene symbol | CYLD | Gene ID | 1540 |
| Gene name | CYLD lysine 63 deubiquitinase | |
| Synonyms | BRSS|CDMT|CYLD1|CYLDI|EAC|MFT|MFT1|SBS|TEM|USPL2 | |
| Cytomap | 16q12.1 | |
| Type of gene | protein-coding | |
| Description | ubiquitin carboxyl-terminal hydrolase CYLDcylindromatosis (turban tumor syndrome)deubiquitinating enzyme CYLDprobable ubiquitin carboxyl-terminal hydrolase CYLDubiquitin specific peptidase like 2ubiquitin thioesterase CYLDubiquitin thiolesterase CYL | |
| Modification date | 20180527 | |
| UniProtAcc | Q9NQC7 | |
| Context | PubMed: CYLD [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 |
| CYLD | GO:0010803 | regulation of tumor necrosis factor-mediated signaling pathway | 26997266 |
| CYLD | GO:0032088 | negative regulation of NF-kappaB transcription factor activity | 18313383 |
| CYLD | GO:0045087 | innate immune response | 26997266 |
| CYLD | GO:0070536 | protein K63-linked deubiquitination | 18313383|18636086|26997266 |
| CYLD | GO:1901223 | negative regulation of NIK/NF-kappaB signaling | 18313383 |
| CYLD | GO:1990108 | protein linear deubiquitination | 26997266 |
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Exon skipping events across known transcript of Ensembl for CYLD 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 CYLD |
| 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 CYLD |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136422 | 16 | 50776672:50776752:50778640:50778777:50783486:50783709 | 50778640:50778777 | ENSG00000083799.13 | ENST00000311559.9,ENST00000564634.1,ENST00000569891.1,ENST00000540145.1 |
| exon_skip_136425 | 16 | 50788229:50788335:50809076:50809085:50810089:50810188 | 50809076:50809085 | ENSG00000083799.13 | ENST00000311559.9,ENST00000427738.3 |
| exon_skip_136429 | 16 | 50813605:50813955:50815156:50815322:50816235:50816377 | 50815156:50815322 | ENSG00000083799.13 | ENST00000564326.1,ENST00000566206.1,ENST00000311559.9,ENST00000569891.1,ENST00000540145.1,ENST00000427738.3,ENST00000398568.2,ENST00000563629.1,ENST00000569418.1 |
| exon_skip_136433 | 16 | 50818239:50818362:50820765:50820857:50821696:50821763 | 50820765:50820857 | ENSG00000083799.13 | ENST00000564326.1,ENST00000566206.1,ENST00000311559.9,ENST00000568704.2,ENST00000540145.1,ENST00000427738.3,ENST00000398568.2,ENST00000569418.1 |
| exon_skip_136437 | 16 | 50820765:50820857:50821696:50821763:50825468:50825601 | 50821696:50821763 | ENSG00000083799.13 | ENST00000564326.1,ENST00000566206.1,ENST00000311559.9,ENST00000568704.2,ENST00000540145.1,ENST00000427738.3,ENST00000398568.2,ENST00000569418.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYLD |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_136422 | 16 | 50776672:50776752:50778640:50778777:50783486:50783709 | 50778640:50778777 | ENSG00000083799.13 | ENST00000540145.1,ENST00000569891.1,ENST00000311559.9,ENST00000564634.1 |
| exon_skip_136425 | 16 | 50788229:50788335:50809076:50809085:50810089:50810188 | 50809076:50809085 | ENSG00000083799.13 | ENST00000311559.9,ENST00000427738.3 |
| exon_skip_136429 | 16 | 50813605:50813955:50815156:50815322:50816235:50816377 | 50815156:50815322 | ENSG00000083799.13 | ENST00000569418.1,ENST00000540145.1,ENST00000569891.1,ENST00000311559.9,ENST00000564326.1,ENST00000566206.1,ENST00000398568.2,ENST00000427738.3,ENST00000563629.1 |
| exon_skip_136433 | 16 | 50818239:50818362:50820765:50820857:50821696:50821763 | 50820765:50820857 | ENSG00000083799.13 | ENST00000569418.1,ENST00000540145.1,ENST00000311559.9,ENST00000564326.1,ENST00000566206.1,ENST00000398568.2,ENST00000427738.3,ENST00000568704.2 |
| exon_skip_136437 | 16 | 50820765:50820857:50821696:50821763:50825468:50825601 | 50821696:50821763 | ENSG00000083799.13 | ENST00000569418.1,ENST00000540145.1,ENST00000311559.9,ENST00000564326.1,ENST00000566206.1,ENST00000398568.2,ENST00000427738.3,ENST00000568704.2 |
| 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 CYLD |
| 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 |
| ENST00000311559 | 50778640 | 50778777 | 5UTR-5UTR |
| ENST00000311559 | 50815156 | 50815322 | Frame-shift |
| ENST00000427738 | 50815156 | 50815322 | Frame-shift |
| ENST00000311559 | 50820765 | 50820857 | Frame-shift |
| ENST00000427738 | 50820765 | 50820857 | Frame-shift |
| ENST00000311559 | 50821696 | 50821763 | Frame-shift |
| ENST00000427738 | 50821696 | 50821763 | Frame-shift |
| ENST00000311559 | 50809076 | 50809085 | In-frame |
| ENST00000427738 | 50809076 | 50809085 | 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 |
| ENST00000311559 | 50778640 | 50778777 | 5UTR-5UTR |
| ENST00000311559 | 50815156 | 50815322 | Frame-shift |
| ENST00000427738 | 50815156 | 50815322 | Frame-shift |
| ENST00000311559 | 50820765 | 50820857 | Frame-shift |
| ENST00000427738 | 50820765 | 50820857 | Frame-shift |
| ENST00000311559 | 50821696 | 50821763 | Frame-shift |
| ENST00000427738 | 50821696 | 50821763 | Frame-shift |
| ENST00000311559 | 50809076 | 50809085 | In-frame |
| ENST00000427738 | 50809076 | 50809085 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYLD |
| 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 CYLD |
| - 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-A3A0-01 | exon_skip_136437 | 50821697 | 50821763 | 50821723 | 50821723 | Frame_Shift_Del | T | - | p.F690fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_136437 | 50821697 | 50821763 | 50821733 | 50821733 | Frame_Shift_Del | T | - | p.I693fs |
| HNSC | TCGA-BA-5153-01 | exon_skip_136433 | 50820766 | 50820857 | 50820854 | 50820854 | Nonsense_Mutation | A | T | p.K680* |
| PAAD | TCGA-IB-7651-01 | exon_skip_136429 | 50815157 | 50815322 | 50815323 | 50815323 | Splice_Site | G | T | . |
| - 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 |
| TGBC11TKB_STOMACH | 50821697 | 50821763 | 50821755 | 50821755 | Frame_Shift_Del | A | - | p.L700fs |
| IHH4_THYROID | 50815157 | 50815322 | 50815205 | 50815205 | Missense_Mutation | T | C | p.Y523H |
| MPP89_PLEURA | 50815157 | 50815322 | 50815217 | 50815217 | Missense_Mutation | G | A | p.A527T |
| GP2D_LARGE_INTESTINE | 50815157 | 50815322 | 50815253 | 50815253 | Missense_Mutation | T | C | p.C539R |
| GP5D_LARGE_INTESTINE | 50815157 | 50815322 | 50815253 | 50815253 | Missense_Mutation | T | C | p.C539R |
| SW48_LARGE_INTESTINE | 50820766 | 50820857 | 50820771 | 50820771 | Missense_Mutation | G | A | p.G652E |
| PACADD188_PANCREAS | 50820766 | 50820857 | 50820821 | 50820821 | Missense_Mutation | G | T | p.V669L |
| GP2D_LARGE_INTESTINE | 50820766 | 50820857 | 50820821 | 50820821 | Missense_Mutation | G | A | p.V669M |
| HRT18_LARGE_INTESTINE | 50821697 | 50821763 | 50821748 | 50821748 | Missense_Mutation | C | A | p.P698H |
| KYSE50_OESOPHAGUS | 50821697 | 50821763 | 50821759 | 50821759 | Missense_Mutation | A | G | p.I702V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYLD |
| 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 CYLD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYLD |
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RelatedDrugs for CYLD |
| 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 CYLD |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYLD | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| CYLD | C0023860 | Listeriosis | 1 | CTD_human |
| CYLD | C0040100 | Thymoma | 1 | CTD_human |
| CYLD | C1275122 | Familial multiple trichoepitheliomata | 1 | ORPHANET;UNIPROT |
| CYLD | C1305968 | Eccrine dermal cylindroma | 1 | CTD_human |
| CYLD | C2239176 | Liver carcinoma | 1 | CTD_human |
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