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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for TSPYL2 |
Gene summary |
Gene information | Gene symbol | TSPYL2 | Gene ID | 64061 |
Gene name | TSPY like 2 | |
Synonyms | CDA1|CINAP|CTCL|DENTT|HRIHFB2216|NP79|SE204|TSPX | |
Cytomap | Xp11.22 | |
Type of gene | protein-coding | |
Description | testis-specific Y-encoded-like protein 2CASK-interacting nucleosome assembly proteinCTCL tumor antigen se20-4CTCL-associated antigen se20-4TSPY-like protein 2cell division autoantigen 1cutaneous T-cell lymphoma-associated antigen se20-4cutaneous T- | |
Modification date | 20180519 | |
UniProtAcc | Q9H2G4 | |
Context | PubMed: TSPYL2 [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 |
TSPYL2 | GO:0008156 | negative regulation of DNA replication | 11395479 |
TSPYL2 | GO:0030308 | negative regulation of cell growth | 11395479 |
TSPYL2 | GO:0045859 | regulation of protein kinase activity | 11395479 |
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Exon skipping events across known transcript of Ensembl for TSPYL2 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 TSPYL2 |
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 TSPYL2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_510664 | X | 53113990:53114048:53114135:53114281:53114408:53114503 | 53114135:53114281 | ENSG00000184205.10 | ENST00000375442.4,ENST00000463525.1,ENST00000578306.1,ENST00000553557.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TSPYL2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_510664 | X | 53113990:53114048:53114135:53114281:53114408:53114503 | 53114135:53114281 | ENSG00000184205.10 | ENST00000553557.1,ENST00000375442.4,ENST00000578306.1,ENST00000463525.1 |
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 TSPYL2 |
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 |
ENST00000375442 | 53114135 | 53114281 | 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 |
ENST00000375442 | 53114135 | 53114281 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TSPYL2 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 TSPYL2 |
- 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 |
HNSC | TCGA-CN-6021-01 | exon_skip_510664 | 53114136 | 53114281 | 53114157 | 53114157 | Frame_Shift_Del | C | - | p.T340fs |
HNSC | TCGA-BB-A5HY-01 | exon_skip_510664 | 53114136 | 53114281 | 53114239 | 53114239 | Nonsense_Mutation | G | A | p.W367* |
CESC | TCGA-FU-A770-01 | exon_skip_510664 | 53114136 | 53114281 | 53114244 | 53114244 | Nonsense_Mutation | C | G | p.S369* |
- 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 |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53114136 | 53114281 | 53114165 | 53114165 | Missense_Mutation | C | T | p.R343C |
HCT15_LARGE_INTESTINE | 53114136 | 53114281 | 53114226 | 53114226 | Missense_Mutation | G | A | p.S363N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TSPYL2 |
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 TSPYL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TSPYL2 |
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RelatedDrugs for TSPYL2 |
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 TSPYL2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
TSPYL2 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |