|
||||||
|
 | |
| |
| |
| |
| 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 TRIM22 |
 Gene summary |
| Gene information | Gene symbol | TRIM22 | Gene ID | 10346 |
| Gene name | tripartite motif containing 22 | |
| Synonyms | GPSTAF50|RNF94|STAF50 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase TRIM2250 kDa-stimulated trans-acting factorRING finger protein 94RING-type E3 ubiquitin transferase TRIM22staf-50stimulated trans-acting factor (50 kDa)tripartite binding motif 22tripartite motif protein TRIM22tripartit | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IYM9 | |
| Context | PubMed: TRIM22 [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 |
| TRIM22 | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling | 23077300 |
| TRIM22 | GO:0051091 | positive regulation of DNA binding transcription factor activity | 23077300 |
| TRIM22 | GO:0051092 | positive regulation of NF-kappaB transcription factor activity | 23077300 |
| TRIM22 | GO:0070206 | protein trimerization | 17156811 |
Top |
Exon skipping events across known transcript of Ensembl for TRIM22 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. |
 |
Top |
Gene isoform structures and expression levels for TRIM22 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TRIM22 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56577 | 11 | 5711109:5711129:5717396:5717885:5718477:5718573 | 5717396:5717885 | ENSG00000132274.11 | ENST00000425490.1 |
| exon_skip_56578 | 11 | 5711109:5711129:5717396:5717885:5719544:5719636 | 5717396:5717885 | ENSG00000132274.11 | ENST00000454828.1 |
| exon_skip_56589 | 11 | 5717731:5717885:5718477:5718573:5719544:5719636 | 5718477:5718573 | ENSG00000132274.11 | ENST00000425490.1,ENST00000414897.1,ENST00000414641.1,ENST00000379965.3 |
| exon_skip_56595 | 11 | 5719709:5719775:5727823:5727846:5729402:5729503 | 5727823:5727846 | ENSG00000132274.11 | ENST00000454828.1,ENST00000414897.1,ENST00000480395.1,ENST00000379965.3 |
| exon_skip_56597 | 11 | 5729437:5729503:5729806:5729833:5730282:5730367 | 5729806:5729833 | ENSG00000132274.11 | ENST00000454828.1,ENST00000414897.1,ENST00000493494.1,ENST00000480395.1,ENST00000379965.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TRIM22 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56577 | 11 | 5711109:5711129:5717396:5717885:5718477:5718573 | 5717396:5717885 | ENSG00000132274.11 | ENST00000425490.1 |
| exon_skip_56578 | 11 | 5711109:5711129:5717396:5717885:5719544:5719636 | 5717396:5717885 | ENSG00000132274.11 | ENST00000454828.1 |
| exon_skip_56589 | 11 | 5717731:5717885:5718477:5718573:5719544:5719636 | 5718477:5718573 | ENSG00000132274.11 | ENST00000379965.3,ENST00000425490.1,ENST00000414641.1,ENST00000414897.1 |
| exon_skip_56595 | 11 | 5719709:5719775:5727823:5727846:5729402:5729503 | 5727823:5727846 | ENSG00000132274.11 | ENST00000379965.3,ENST00000454828.1,ENST00000480395.1,ENST00000414897.1 |
| exon_skip_56597 | 11 | 5729437:5729503:5729806:5729833:5730282:5730367 | 5729806:5729833 | ENSG00000132274.11 | ENST00000379965.3,ENST00000454828.1,ENST00000480395.1,ENST00000414897.1,ENST00000493494.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TRIM22 |
| 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 |
| ENST00000379965 | 5727823 | 5727846 | Frame-shift |
| ENST00000379965 | 5718477 | 5718573 | In-frame |
| ENST00000379965 | 5729806 | 5729833 | 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 |
| ENST00000379965 | 5727823 | 5727846 | Frame-shift |
| ENST00000379965 | 5718477 | 5718573 | In-frame |
| ENST00000379965 | 5729806 | 5729833 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TRIM22 |
| 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 |
| ENST00000379965 | 3006 | 498 | 5718477 | 5718573 | 701 | 796 | 141 | 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 |
| ENST00000379965 | 3006 | 498 | 5718477 | 5718573 | 701 | 796 | 141 | 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 |
| Q8IYM9 | 141 | 173 | 1 | 498 | Chain | ID=PRO_0000056232;Note=E3 ubiquitin-protein ligase TRIM22 |
| Q8IYM9 | 141 | 173 | 132 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IYM9 | 141 | 173 | 155 | 155 | Natural variant | ID=VAR_052134;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7935564,PMID:15489334 |
| 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 |
| Q8IYM9 | 141 | 173 | 1 | 498 | Chain | ID=PRO_0000056232;Note=E3 ubiquitin-protein ligase TRIM22 |
| Q8IYM9 | 141 | 173 | 132 | 248 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q8IYM9 | 141 | 173 | 155 | 155 | Natural variant | ID=VAR_052134;Note=D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7935564,PMID:15489334 |
Top |
SNVs in the skipped exons for TRIM22 |
| - 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. |
TRIM22_BRCA_exon_skip_56589_psi_boxplot.png |
| - 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_56578 exon_skip_56577 | 5717397 | 5717885 | 5717507 | 5717507 | Frame_Shift_Del | C | - | p.C15fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717670 | 5717670 | Frame_Shift_Del | C | - | p.P70fs |
| SKCM | TCGA-FS-A4F2-06 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717762 | 5717762 | Frame_Shift_Del | T | - | p.H100fs |
| COAD | TCGA-CM-4743-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717765 | 5717765 | Frame_Shift_Del | A | - | p.G101fs |
| STAD | TCGA-HJ-7597-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717765 | 5717765 | Frame_Shift_Del | A | - | p.G101fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717532 | 5717532 | Nonsense_Mutation | G | T | p.E24* |
| UCEC | TCGA-D1-A103-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717810 | 5717810 | Nonsense_Mutation | C | A | p.C116* |
| ESCA | TCGA-IG-A3Y9-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717813 | 5717813 | Nonsense_Mutation | G | A | p.W117* |
| ESCA | TCGA-IG-A3Y9-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717813 | 5717813 | Nonsense_Mutation | G | A | p.W117X |
| UCEC | TCGA-AP-A056-01 | exon_skip_56578 exon_skip_56577 | 5717397 | 5717885 | 5717876 | 5717876 | Nonsense_Mutation | G | T | p.G49* |
| BRCA | TCGA-EW-A1J5-01 | exon_skip_56589 | 5718478 | 5718573 | 5718549 | 5718549 | Nonsense_Mutation | C | T | p.Q76* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EW-A1J5-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_56589 | |
| Skipped exon start: 5718478 | |
| Skipped exon end: 5718573 | |
| Mutation start: 5718549 | |
| Mutation end: 5718549 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.Q76* | |
exon_skip_56589_BRCA_TCGA-EW-A1J5-01.png | |
| - 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 |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5717397 | 5717885 | 5717765 | 5717765 | Frame_Shift_Del | A | - | p.G101fs |
| CW2_LARGE_INTESTINE | 5717397 | 5717885 | 5717515 | 5717515 | Missense_Mutation | G | A | p.C18Y |
| MFE296_ENDOMETRIUM | 5717397 | 5717885 | 5717566 | 5717566 | Missense_Mutation | G | A | p.C35Y |
| SNU407_LARGE_INTESTINE | 5717397 | 5717885 | 5717602 | 5717602 | Missense_Mutation | T | C | p.V47A |
| NCIH1648_LUNG | 5717397 | 5717885 | 5717683 | 5717683 | Missense_Mutation | T | G | p.L74R |
| SN12C_KIDNEY | 5717397 | 5717885 | 5717703 | 5717703 | Missense_Mutation | G | T | p.V81F |
| GA10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5717397 | 5717885 | 5717752 | 5717752 | Missense_Mutation | G | C | p.C97S |
| NCIH2066_LUNG | 5717397 | 5717885 | 5717781 | 5717781 | Missense_Mutation | T | G | p.F107V |
| HCT15_LARGE_INTESTINE | 5717397 | 5717885 | 5717797 | 5717797 | Missense_Mutation | G | A | p.G112E |
| L33_PANCREAS | 5717397 | 5717885 | 5717860 | 5717860 | Missense_Mutation | T | A | p.I133K |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5717397 | 5717885 | 5717872 | 5717872 | Missense_Mutation | T | C | p.V137A |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5718478 | 5718573 | 5718509 | 5718509 | Missense_Mutation | T | A | p.I152K |
| SCLC22H_LUNG | 5718478 | 5718573 | 5718545 | 5718545 | Missense_Mutation | A | C | p.D164A |
| SCLC21H_LUNG | 5718478 | 5718573 | 5718545 | 5718545 | Missense_Mutation | A | C | p.D164A |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRIM22 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRIM22 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRIM22 |
Top |
RelatedDrugs for TRIM22 |
| 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 |
Top |
RelatedDiseases for TRIM22 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TRIM22 | C0021400 | Influenza | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|