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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 TLL2 |
 Gene summary |
| Gene information | Gene symbol | TLL2 | Gene ID | 7093 |
| Gene name | tolloid like 2 | |
| Synonyms | - | |
| Cytomap | 10q24.1 | |
| Type of gene | protein-coding | |
| Description | tolloid-like protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y6L7 | |
| Context | PubMed: TLL2 [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 TLL2 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 TLL2 |
| 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 TLL2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52553 | 10 | 98170115:98170231:98170319:98170409:98172948:98173073 | 98170319:98170409 | ENSG00000095587.8 | ENST00000469598.1 |
| exon_skip_52556 | 10 | 98188387:98188505:98192563:98192719:98205847:98205925 | 98192563:98192719 | ENSG00000095587.8 | ENST00000357947.3 |
| exon_skip_52559 | 10 | 98192563:98192719:98205847:98205925:98240105:98240216 | 98205847:98205925 | ENSG00000095587.8 | ENST00000357947.3 |
| exon_skip_52560 | 10 | 98205847:98205925:98240105:98240216:98273267:98273668 | 98240105:98240216 | ENSG00000095587.8 | ENST00000469598.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TLL2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_52553 | 10 | 98170115:98170231:98170319:98170409:98172948:98173073 | 98170319:98170409 | ENSG00000095587.8 | ENST00000469598.1 |
| exon_skip_52556 | 10 | 98188387:98188505:98192563:98192719:98205847:98205925 | 98192563:98192719 | ENSG00000095587.8 | ENST00000357947.3 |
| exon_skip_52559 | 10 | 98192563:98192719:98205847:98205925:98240105:98240216 | 98205847:98205925 | ENSG00000095587.8 | ENST00000357947.3 |
| exon_skip_52560 | 10 | 98205847:98205925:98240105:98240216:98273267:98273668 | 98240105:98240216 | ENSG00000095587.8 | ENST00000469598.1 |
| 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 TLL2 |
| 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 |
| ENST00000357947 | 98192563 | 98192719 | In-frame |
| ENST00000357947 | 98205847 | 98205925 | 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 |
| ENST00000357947 | 98192563 | 98192719 | In-frame |
| ENST00000357947 | 98205847 | 98205925 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TLL2 |
| 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 |
| ENST00000357947 | 6773 | 1015 | 98205847 | 98205925 | 513 | 590 | 95 | 121 |
| ENST00000357947 | 6773 | 1015 | 98192563 | 98192719 | 591 | 746 | 121 | 173 |
| 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 |
| ENST00000357947 | 6773 | 1015 | 98205847 | 98205925 | 513 | 590 | 95 | 121 |
| ENST00000357947 | 6773 | 1015 | 98192563 | 98192719 | 591 | 746 | 121 | 173 |
| 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 |
| Q9Y6L7 | 95 | 121 | 26 | 149 | Propeptide | ID=PRO_0000046036;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10479448;Dbxref=PMID:10479448 |
| Q9Y6L7 | 121 | 173 | 150 | 1015 | Chain | ID=PRO_0000046037;Note=Tolloid-like protein 2 |
| Q9Y6L7 | 121 | 173 | 149 | 349 | Domain | Note=Peptidase M12A;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01211 |
| Q9Y6L7 | 121 | 173 | 171 | 171 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y6L7 | 121 | 173 | 26 | 149 | Propeptide | ID=PRO_0000046036;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10479448;Dbxref=PMID:10479448 |
| 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 |
| Q9Y6L7 | 95 | 121 | 26 | 149 | Propeptide | ID=PRO_0000046036;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10479448;Dbxref=PMID:10479448 |
| Q9Y6L7 | 121 | 173 | 150 | 1015 | Chain | ID=PRO_0000046037;Note=Tolloid-like protein 2 |
| Q9Y6L7 | 121 | 173 | 149 | 349 | Domain | Note=Peptidase M12A;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01211 |
| Q9Y6L7 | 121 | 173 | 171 | 171 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y6L7 | 121 | 173 | 26 | 149 | Propeptide | ID=PRO_0000046036;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10479448;Dbxref=PMID:10479448 |
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SNVs in the skipped exons for TLL2 |
| - 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_52556 | 98192564 | 98192719 | 98192589 | 98192589 | Frame_Shift_Del | G | - | p.P165fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_52560 | 98240106 | 98240216 | 98240124 | 98240124 | Frame_Shift_Del | C | - | p.A90fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_52560 | 98240106 | 98240216 | 98240124 | 98240124 | Frame_Shift_Del | C | - | p.A90fs |
| SARC | TCGA-DX-AB2P-01 | exon_skip_52560 | 98240106 | 98240216 | 98240208 | 98240208 | Frame_Shift_Del | A | - | p.W62fs |
| - 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 |
| JHUEM2_ENDOMETRIUM | 98192564 | 98192719 | 98192704 | 98192704 | Missense_Mutation | G | A | p.T127I |
| WM793_SKIN | 98240106 | 98240216 | 98240143 | 98240143 | Nonsense_Mutation | C | T | p.W83* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TLL2 |
| 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 TLL2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TLL2 |
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RelatedDrugs for TLL2 |
| 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 TLL2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TLL2 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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