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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 TRIML2 |
Gene summary |
| Gene information | Gene symbol | TRIML2 | Gene ID | 205860 |
| Gene name | tripartite motif family like 2 | |
| Synonyms | SPRYD6 | |
| Cytomap | 4q35.2 | |
| Type of gene | protein-coding | |
| Description | probable E3 ubiquitin-protein ligase TRIML2RING-type E3 ubiquitin transferase TRIML2SPRY domain-containing protein 6tripartite motif family-like protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N7C3 | |
| Context | PubMed: TRIML2 [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 TRIML2 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 TRIML2 |
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 TRIML2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433547 | 4 | 189012526:189013095:189013940:189014176:189018214:189018315 | 189013940:189014176 | ENSG00000179046.4 | ENST00000503141.1 |
| exon_skip_433548 | 4 | 189012526:189013095:189018214:189018315:189020188:189020329 | 189018214:189018315 | ENSG00000179046.4 | ENST00000503475.1 |
| exon_skip_433552 | 4 | 189018214:189018315:189018477:189018500:189019358:189019433 | 189018477:189018500 | ENSG00000179046.4 | ENST00000326754.3 |
| exon_skip_433553 | 4 | 189018214:189018315:189018477:189018500:189020188:189020329 | 189018477:189018500 | ENSG00000179046.4 | ENST00000512729.1 |
| exon_skip_433556 | 4 | 189018477:189018500:189019358:189019433:189020188:189020329 | 189019358:189019433 | ENSG00000179046.4 | ENST00000326754.3 |
| exon_skip_433558 | 4 | 189020188:189020329:189022209:189022404:189025990:189026086 | 189022209:189022404 | ENSG00000179046.4 | ENST00000326754.3,ENST00000511771.1,ENST00000512729.1,ENST00000536972.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TRIML2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433547 | 4 | 189012526:189013095:189013940:189014176:189018214:189018315 | 189013940:189014176 | ENSG00000179046.4 | ENST00000503141.1 |
| exon_skip_433552 | 4 | 189018214:189018315:189018477:189018500:189019358:189019433 | 189018477:189018500 | ENSG00000179046.4 | ENST00000326754.3 |
| exon_skip_433553 | 4 | 189018214:189018315:189018477:189018500:189020188:189020329 | 189018477:189018500 | ENSG00000179046.4 | ENST00000512729.1 |
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 TRIML2 |
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 |
| ENST00000512729 | 189018477 | 189018500 | Frame-shift |
| ENST00000512729 | 189022209 | 189022404 | 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 |
| ENST00000512729 | 189018477 | 189018500 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TRIML2 |
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 |
| ENST00000512729 | 1656 | 387 | 189022209 | 189022404 | 511 | 705 | 45 | 110 |
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 |
| Q8N7C3 | 45 | 110 | 1 | 387 | Chain | ID=PRO_0000317435;Note=Probable E3 ubiquitin-protein ligase TRIML2 |
| Q8N7C3 | 45 | 110 | 5 | 150 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 TRIML2 |
- 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 |
| SKCM | TCGA-EE-A20C-06 | exon_skip_433558 | 189022210 | 189022404 | 189022263 | 189022263 | Nonsense_Mutation | G | A | p.Q93* |
| SKCM | TCGA-EE-A20C-06 | exon_skip_433558 | 189022210 | 189022404 | 189022263 | 189022263 | Nonsense_Mutation | G | A | p.Q93X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_433558 | 189022210 | 189022404 | 189022278 | 189022278 | Nonsense_Mutation | C | A | p.E88* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_433558 | 189022210 | 189022404 | 189022278 | 189022278 | Nonsense_Mutation | C | A | p.E88X |
| LUAD | TCGA-69-7979-01 | exon_skip_433558 | 189022210 | 189022404 | 189022368 | 189022368 | Nonsense_Mutation | C | A | p.E58* |
- 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 |
| JHUEM7_ENDOMETRIUM | 189018215 | 189018315 | 189018221 | 189018221 | Missense_Mutation | G | T | p.L197I |
| NCIH520_LUNG | 189018215 | 189018315 | 189018226 | 189018226 | Missense_Mutation | C | A | p.R195I |
| KYSE140_OESOPHAGUS | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| KASUMI6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| RERFGC1B_STOMACH | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| MKN1_STOMACH | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| TASK1_CENTRAL_NERVOUS_SYSTEM | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| OVISE_OVARY | 189018215 | 189018315 | 189018278 | 189018278 | Missense_Mutation | G | A | p.H178Y |
| NCIH1395_LUNG | 189018478 | 189018500 | 189018481 | 189018481 | Missense_Mutation | T | A | p.E164V |
| NCIH838_LUNG | 189022210 | 189022404 | 189022225 | 189022225 | Missense_Mutation | G | T | p.F105L |
| MET2B | 189022210 | 189022404 | 189022305 | 189022305 | Missense_Mutation | C | T | p.E79K |
| CME1_SOFT_TISSUE | 189022210 | 189022404 | 189022326 | 189022326 | Missense_Mutation | G | T | p.Q72K |
| NCIH358_LUNG | 189018215 | 189018315 | 189018307 | 189018307 | Nonsense_Mutation | G | T | p.S168* |
| ESS1_ENDOMETRIUM | 189022210 | 189022404 | 189022263 | 189022263 | Nonsense_Mutation | G | A | p.Q93* |
| NCIH1734_LUNG | 189022210 | 189022404 | 189022335 | 189022335 | Nonsense_Mutation | C | A | p.E69* |
| T3M4_PANCREAS | 189018478 | 189018500 | 189018479 | 189018479 | Splice_Site | T | C | p.R165G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRIML2 |
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 TRIML2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRIML2 |
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RelatedDrugs for TRIML2 |
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 TRIML2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |