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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 TGM3 |
 Gene summary |
| Gene information | Gene symbol | TGM3 | Gene ID | 7053 |
| Gene name | transglutaminase 3 | |
| Synonyms | TGE|UHS2 | |
| Cytomap | 20p13 | |
| Type of gene | protein-coding | |
| Description | protein-glutamine gamma-glutamyltransferase EE polypeptide, protein-glutamine-gamma-glutamyltransferaseTG(E)TGase ETGase-3transglutaminase E | |
| Modification date | 20180527 | |
| UniProtAcc | Q08188 | |
| Context | PubMed: TGM3 [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 |
| TGM3 | GO:0018149 | peptide cross-linking | 24643|12679341 |
| TGM3 | GO:0043163 | cell envelope organization | 24643 |
| TGM3 | GO:0051262 | protein tetramerization | 5038456 |
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Exon skipping events across known transcript of Ensembl for TGM3 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 TGM3 |
| 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 TGM3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348461 | 20 | 2297995:2298131:2306494:2306598:2308765:2309011 | 2306494:2306598 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348472 | 20 | 2306494:2306598:2308765:2309011:2312647:2312956 | 2308765:2309011 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348489 | 20 | 2308765:2309011:2312647:2312956:2315761:2315919 | 2312647:2312956 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348494 | 20 | 2312647:2312956:2315761:2315919:2320499:2320571 | 2315761:2315919 | ENSG00000125780.11 | ENST00000381458.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TGM3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348461 | 20 | 2297995:2298131:2306494:2306598:2308765:2309011 | 2306494:2306598 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348472 | 20 | 2306494:2306598:2308765:2309011:2312647:2312956 | 2308765:2309011 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348489 | 20 | 2308765:2309011:2312647:2312956:2315761:2315919 | 2312647:2312956 | ENSG00000125780.11 | ENST00000381458.5 |
| exon_skip_348494 | 20 | 2312647:2312956:2315761:2315919:2320499:2320571 | 2315761:2315919 | ENSG00000125780.11 | ENST00000381458.5 |
| 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 TGM3 |
| 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 |
| ENST00000381458 | 2306494 | 2306598 | Frame-shift |
| ENST00000381458 | 2315761 | 2315919 | Frame-shift |
| ENST00000381458 | 2308765 | 2309011 | In-frame |
| ENST00000381458 | 2312647 | 2312956 | 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 |
| ENST00000381458 | 2306494 | 2306598 | Frame-shift |
| ENST00000381458 | 2315761 | 2315919 | Frame-shift |
| ENST00000381458 | 2308765 | 2309011 | In-frame |
| ENST00000381458 | 2312647 | 2312956 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TGM3 |
| 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 |
| ENST00000381458 | 2659 | 693 | 2308765 | 2309011 | 1151 | 1396 | 362 | 444 |
| ENST00000381458 | 2659 | 693 | 2312647 | 2312956 | 1397 | 1705 | 444 | 547 |
| 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 |
| ENST00000381458 | 2659 | 693 | 2308765 | 2309011 | 1151 | 1396 | 362 | 444 |
| ENST00000381458 | 2659 | 693 | 2312647 | 2312956 | 1397 | 1705 | 444 | 547 |
| 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 |
| Q08188 | 362 | 444 | 396 | 403 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 408 | 426 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 433 | 435 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 444 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NUF |
| Q08188 | 362 | 444 | 2 | 467 | Chain | ID=PRO_0000033652;Note=Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain |
| Q08188 | 362 | 444 | 372 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 386 | 394 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 437 | 440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 394 | 394 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 416 | 416 | Metal binding | Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 444 | 444 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 383 | 385 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 404 | 407 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 444 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NUF |
| Q08188 | 444 | 547 | 482 | 489 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 499 | 507 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 509 | 511 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 513 | 524 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 530 | 543 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 2 | 467 | Chain | ID=PRO_0000033652;Note=Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain |
| Q08188 | 444 | 547 | 468 | 693 | Chain | ID=PRO_0000033653;Note=Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain |
| Q08188 | 444 | 547 | 447 | 460 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 444 | 444 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 444 | 547 | 449 | 449 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 444 | 547 | 467 | 468 | Site | Note=Cleavage%3B by CTSL |
| 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 |
| Q08188 | 362 | 444 | 396 | 403 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 408 | 426 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 433 | 435 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 444 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NUF |
| Q08188 | 362 | 444 | 2 | 467 | Chain | ID=PRO_0000033652;Note=Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain |
| Q08188 | 362 | 444 | 372 | 377 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 386 | 394 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 437 | 440 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 394 | 394 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 416 | 416 | Metal binding | Note=Calcium 3%3B via carbonyl oxygen;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 444 | 444 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 362 | 444 | 383 | 385 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 362 | 444 | 404 | 407 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 444 | 446 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1NUF |
| Q08188 | 444 | 547 | 482 | 489 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 499 | 507 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 509 | 511 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 513 | 524 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 530 | 543 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 2 | 467 | Chain | ID=PRO_0000033652;Note=Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain |
| Q08188 | 444 | 547 | 468 | 693 | Chain | ID=PRO_0000033653;Note=Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain |
| Q08188 | 444 | 547 | 447 | 460 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1L9M |
| Q08188 | 444 | 547 | 444 | 444 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 444 | 547 | 449 | 449 | Metal binding | Note=Calcium 3;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11980702,ECO:0000269|PubMed:12679341;Dbxref=PMID:11980702,PMID:12679341 |
| Q08188 | 444 | 547 | 467 | 468 | Site | Note=Cleavage%3B by CTSL |
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SNVs in the skipped exons for TGM3 |
| - 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_348489 | 2312648 | 2312956 | 2312685 | 2312685 | Frame_Shift_Del | G | - | p.L457fs |
| STAD | TCGA-IN-A6RL-01 | exon_skip_348489 | 2312648 | 2312956 | 2312674 | 2312675 | Frame_Shift_Ins | - | A | p.K454fs |
| STAD | TCGA-IN-A6RL-01 | exon_skip_348489 | 2312648 | 2312956 | 2312674 | 2312675 | Frame_Shift_Ins | - | A | p.Q454fs |
| COAD | TCGA-AA-3510-01 | exon_skip_348472 | 2308766 | 2309011 | 2308804 | 2308804 | Nonsense_Mutation | C | T | p.R376X |
| SKCM | TCGA-BF-AAP1-01 | exon_skip_348472 | 2308766 | 2309011 | 2308804 | 2308804 | Nonsense_Mutation | C | T | p.R376* |
| LUSC | TCGA-56-6545-01 | exon_skip_348472 | 2308766 | 2309011 | 2308908 | 2308908 | Nonsense_Mutation | G | A | p.W410* |
| STAD | TCGA-BR-7959-01 | exon_skip_348489 | 2312648 | 2312956 | 2312665 | 2312665 | Nonsense_Mutation | C | T | p.Q451* |
| STAD | TCGA-BR-7959-01 | exon_skip_348489 | 2312648 | 2312956 | 2312665 | 2312665 | Nonsense_Mutation | C | T | p.Q451X |
| ESCA | TCGA-LN-A9FO-01 | exon_skip_348489 | 2312648 | 2312956 | 2312957 | 2312957 | Splice_Site | G | T | . |
| ESCA | TCGA-LN-A9FO-01 | exon_skip_348489 | 2312648 | 2312956 | 2312957 | 2312957 | Splice_Site | G | T | e10+1 |
| - 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 |
| NCIH2591_PLEURA | 2312648 | 2312956 | 2312823 | 2312824 | Frame_Shift_Ins | - | T | p.L504fs |
| LC2AD_LUNG | 2308766 | 2309011 | 2308790 | 2308790 | Missense_Mutation | C | T | p.S371L |
| SW1463_LARGE_INTESTINE | 2308766 | 2309011 | 2308816 | 2308816 | Missense_Mutation | G | T | p.V380L |
| SBC3_LUNG | 2308766 | 2309011 | 2308830 | 2308830 | Missense_Mutation | C | G | p.F384L |
| CORL24_LUNG | 2308766 | 2309011 | 2308886 | 2308886 | Missense_Mutation | A | G | p.D403G |
| SNU407_LARGE_INTESTINE | 2308766 | 2309011 | 2308976 | 2308976 | Missense_Mutation | G | A | p.R433H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2312648 | 2312956 | 2312730 | 2312730 | Missense_Mutation | G | T | p.M472I |
| NCIH2023_LUNG | 2312648 | 2312956 | 2312767 | 2312767 | Missense_Mutation | G | T | p.G485W |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 2312648 | 2312956 | 2312782 | 2312782 | Missense_Mutation | G | A | p.A490T |
| AN3CA_ENDOMETRIUM | 2312648 | 2312956 | 2312857 | 2312857 | Missense_Mutation | G | T | p.V515L |
| SNU1040_LARGE_INTESTINE | 2315762 | 2315919 | 2315769 | 2315769 | Missense_Mutation | A | C | p.E550D |
| K2_SKIN | 2315762 | 2315919 | 2315786 | 2315786 | Missense_Mutation | C | T | p.S556L |
| HS746T_STOMACH | 2315762 | 2315919 | 2315791 | 2315791 | Missense_Mutation | G | T | p.A558S |
| SNU1040_LARGE_INTESTINE | 2315762 | 2315919 | 2315831 | 2315831 | Missense_Mutation | G | A | p.R571Q |
| YAMATO_SOFT_TISSUE | 2315762 | 2315919 | 2315846 | 2315846 | Missense_Mutation | G | A | p.C576Y |
| NCIH1734_LUNG | 2306495 | 2306598 | 2306556 | 2306556 | Nonsense_Mutation | G | T | p.G349* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TGM3 |
| 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 TGM3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGM3 |
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RelatedDrugs for TGM3 |
| 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 TGM3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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