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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 WSCD1 |
 Gene summary |
| Gene information | Gene symbol | WSCD1 | Gene ID | 23302 |
| Gene name | WSC domain containing 1 | |
| Synonyms | - | |
| Cytomap | 17p13.2 | |
| Type of gene | protein-coding | |
| Description | WSC domain-containing protein 1 | |
| Modification date | 20180403 | |
| UniProtAcc | Q658N2 | |
| Context | PubMed: WSCD1 [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 WSCD1 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 WSCD1 |
| 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 WSCD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148371 | 17 | 5740500:5740569:5792076:5792150:5893249:5893341 | 5792076:5792150 | ENSG00000179314.9 | ENST00000573619.1 |
| exon_skip_148376 | 17 | 5973933:5973972:5983690:5984405:5991309:5991424 | 5983690:5984405 | ENSG00000179314.9 | ENST00000576083.1,ENST00000317744.5 |
| exon_skip_148378 | 17 | 5984063:5984405:5991309:5991424:5993640:5993825 | 5991309:5991424 | ENSG00000179314.9 | ENST00000574946.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1 |
| exon_skip_148380 | 17 | 5984063:5984405:5993640:5993825:5998421:5998543 | 5993640:5993825 | ENSG00000179314.9 | ENST00000571494.1 |
| exon_skip_148381 | 17 | 5991309:5991424:5993640:5993825:5998421:5998543 | 5993640:5993825 | ENSG00000179314.9 | ENST00000574946.1,ENST00000573634.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1 |
| exon_skip_148382 | 17 | 5998421:5998543:6012926:6013086:6014090:6014255 | 6012926:6013086 | ENSG00000179314.9 | ENST00000574946.1,ENST00000571494.1,ENST00000573634.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WSCD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_148371 | 17 | 5740500:5740569:5792076:5792150:5893249:5893341 | 5792076:5792150 | ENSG00000179314.9 | ENST00000573619.1 |
| exon_skip_148376 | 17 | 5973933:5973972:5983690:5984405:5991309:5991424 | 5983690:5984405 | ENSG00000179314.9 | ENST00000576083.1,ENST00000317744.5 |
| exon_skip_148378 | 17 | 5984063:5984405:5991309:5991424:5993640:5993825 | 5991309:5991424 | ENSG00000179314.9 | ENST00000574946.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1 |
| exon_skip_148380 | 17 | 5984063:5984405:5993640:5993825:5998421:5998543 | 5993640:5993825 | ENSG00000179314.9 | ENST00000571494.1 |
| exon_skip_148381 | 17 | 5991309:5991424:5993640:5993825:5998421:5998543 | 5993640:5993825 | ENSG00000179314.9 | ENST00000574946.1,ENST00000573634.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1 |
| exon_skip_148382 | 17 | 5998421:5998543:6012926:6013086:6014090:6014255 | 6012926:6013086 | ENSG00000179314.9 | ENST00000574946.1,ENST00000573634.1,ENST00000317744.5,ENST00000574232.1,ENST00000539421.1,ENST00000571494.1 |
| 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 WSCD1 |
| 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 |
| ENST00000317744 | 5983690 | 5984405 | 5CDS-5UTR |
| ENST00000317744 | 5991309 | 5991424 | Frame-shift |
| ENST00000539421 | 5991309 | 5991424 | Frame-shift |
| ENST00000574232 | 5991309 | 5991424 | Frame-shift |
| ENST00000574946 | 5991309 | 5991424 | Frame-shift |
| ENST00000317744 | 5993640 | 5993825 | Frame-shift |
| ENST00000539421 | 5993640 | 5993825 | Frame-shift |
| ENST00000574232 | 5993640 | 5993825 | Frame-shift |
| ENST00000574946 | 5993640 | 5993825 | Frame-shift |
| ENST00000317744 | 6012926 | 6013086 | Frame-shift |
| ENST00000539421 | 6012926 | 6013086 | Frame-shift |
| ENST00000574232 | 6012926 | 6013086 | Frame-shift |
| ENST00000574946 | 6012926 | 6013086 | 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 |
| ENST00000317744 | 5983690 | 5984405 | 5CDS-5UTR |
| ENST00000317744 | 5991309 | 5991424 | Frame-shift |
| ENST00000539421 | 5991309 | 5991424 | Frame-shift |
| ENST00000574232 | 5991309 | 5991424 | Frame-shift |
| ENST00000574946 | 5991309 | 5991424 | Frame-shift |
| ENST00000317744 | 5993640 | 5993825 | Frame-shift |
| ENST00000539421 | 5993640 | 5993825 | Frame-shift |
| ENST00000574232 | 5993640 | 5993825 | Frame-shift |
| ENST00000574946 | 5993640 | 5993825 | Frame-shift |
| ENST00000317744 | 6012926 | 6013086 | Frame-shift |
| ENST00000539421 | 6012926 | 6013086 | Frame-shift |
| ENST00000574232 | 6012926 | 6013086 | Frame-shift |
| ENST00000574946 | 6012926 | 6013086 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for WSCD1 |
| 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 WSCD1 |
| - 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_148376 | 5983691 | 5984405 | 5984029 | 5984029 | Frame_Shift_Del | C | - | p.F17fs |
| PRAD | TCGA-VP-AA1N-01 | exon_skip_148376 | 5983691 | 5984405 | 5984071 | 5984071 | Frame_Shift_Del | C | - | p.S31fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_148378 | 5991310 | 5991424 | 5991326 | 5991326 | Nonsense_Mutation | C | A | p.C148* |
| PAAD | TCGA-IB-7651-01 | exon_skip_148378 | 5991310 | 5991424 | 5991326 | 5991326 | Nonsense_Mutation | C | A | p.C148X |
| DLBC | TCGA-G8-6914-01 | exon_skip_148382 | 6012927 | 6013086 | 6012955 | 6012955 | Nonsense_Mutation | G | A | p.W293X |
| - 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 |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5983691 | 5984405 | 5984113 | 5984113 | Frame_Shift_Del | C | - | p.G45fs |
| CW2_LARGE_INTESTINE | 6012927 | 6013086 | 6012978 | 6012979 | In_Frame_Ins | - | CCC | p.302_303insP |
| NCIH2052_PLEURA | 5983691 | 5984405 | 5984031 | 5984031 | Missense_Mutation | T | C | p.L18P |
| SNU407_LARGE_INTESTINE | 5983691 | 5984405 | 5984082 | 5984082 | Missense_Mutation | T | A | p.L35Q |
| NCIH1568_LUNG | 5983691 | 5984405 | 5984088 | 5984088 | Missense_Mutation | G | T | p.R37L |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5983691 | 5984405 | 5984117 | 5984117 | Missense_Mutation | C | T | p.R47W |
| PLCPRF5_LIVER | 5983691 | 5984405 | 5984126 | 5984126 | Missense_Mutation | G | T | p.G50C |
| RH28_SOFT_TISSUE | 5983691 | 5984405 | 5984265 | 5984265 | Missense_Mutation | G | A | p.R96Q |
| SNU475_LIVER | 5983691 | 5984405 | 5984265 | 5984265 | Missense_Mutation | G | A | p.R96Q |
| HEC251_ENDOMETRIUM | 5983691 | 5984405 | 5984298 | 5984298 | Missense_Mutation | C | T | p.S107L |
| DEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5983691 | 5984405 | 5984298 | 5984298 | Missense_Mutation | C | G | p.S107W |
| HEC151_ENDOMETRIUM | 5983691 | 5984405 | 5984307 | 5984307 | Missense_Mutation | G | A | p.R110H |
| GP2D_LARGE_INTESTINE | 5983691 | 5984405 | 5984331 | 5984331 | Missense_Mutation | A | G | p.H118R |
| GP5D_LARGE_INTESTINE | 5983691 | 5984405 | 5984331 | 5984331 | Missense_Mutation | A | G | p.H118R |
| LI7_LIVER | 5991310 | 5991424 | 5991313 | 5991313 | Missense_Mutation | C | T | p.T144I |
| SNU886_LIVER | 5991310 | 5991424 | 5991336 | 5991336 | Missense_Mutation | G | A | p.D152N |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5991310 | 5991424 | 5991343 | 5991343 | Missense_Mutation | A | G | p.H154R |
| MCC26_SKIN | 5991310 | 5991424 | 5991354 | 5991354 | Missense_Mutation | C | A | p.L158M |
| TE4_OESOPHAGUS | 5991310 | 5991424 | 5991387 | 5991387 | Missense_Mutation | A | G | p.M169V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5991310 | 5991424 | 5991412 | 5991412 | Missense_Mutation | C | T | p.A177V |
| SNU324_PANCREAS | 5991310 | 5991424 | 5991412 | 5991412 | Missense_Mutation | C | T | p.A177V |
| DU145_PROSTATE | 5991310 | 5991424 | 5991412 | 5991412 | Missense_Mutation | C | T | p.A177V |
| EN_ENDOMETRIUM | 5993641 | 5993825 | 5993745 | 5993745 | Missense_Mutation | G | A | p.G216D |
| NBTU110_AUTONOMIC_GANGLIA | 5993641 | 5993825 | 5993749 | 5993749 | Missense_Mutation | G | T | p.E217D |
| TC32_BONE | 5993641 | 5993825 | 5993778 | 5993778 | Missense_Mutation | G | A | p.R227Q |
| SW684_SOFT_TISSUE | 5993641 | 5993825 | 5993792 | 5993792 | Missense_Mutation | C | T | p.R232C |
| RKO_LARGE_INTESTINE | 5993641 | 5993825 | 5993810 | 5993810 | Missense_Mutation | C | T | p.P238S |
| HCC1500_BREAST | 5993641 | 5993825 | 5993819 | 5993819 | Missense_Mutation | A | G | p.R241G |
| K562_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6012927 | 6013086 | 6012940 | 6012940 | Missense_Mutation | C | A | p.A288D |
| S117_SOFT_TISSUE | 6012927 | 6013086 | 6012981 | 6012981 | Missense_Mutation | C | A | p.P302T |
| KP1N_PANCREAS | 6012927 | 6013086 | 6013050 | 6013050 | Missense_Mutation | G | C | p.A325P |
| SNU175_LARGE_INTESTINE | 5983691 | 5984405 | 5983997 | 5983997 | Nonsense_Mutation | C | T | p.R7* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WSCD1 |
| 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 WSCD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WSCD1 |
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RelatedDrugs for WSCD1 |
| 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 WSCD1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| WSCD1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| WSCD1 | C0032927 | Precancerous Conditions | 1 | CTD_human |
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