|
||||||
|
 | |
| |
| |
| |
| 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 TGM7 |
 Gene summary |
| Gene information | Gene symbol | TGM7 | Gene ID | 116179 |
| Gene name | transglutaminase 7 | |
| Synonyms | TGMZ | |
| Cytomap | 15q15.2-q15.3 | |
| Type of gene | protein-coding | |
| Description | protein-glutamine gamma-glutamyltransferase ZTG(Z)TGZTGase ZTGase-7transglutaminase Z | |
| Modification date | 20180329 | |
| UniProtAcc | Q96PF1 | |
| Context | PubMed: TGM7 [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 |
Top |
Exon skipping events across known transcript of Ensembl for TGM7 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 TGM7 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TGM7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126474 | 15 | 43569059:43569193:43571314:43571475:43571822:43572149 | 43571314:43571475 | ENSG00000159495.7 | ENST00000452443.2 |
| exon_skip_126476 | 15 | 43571822:43572149:43574041:43574284:43574714:43574818 | 43574041:43574284 | ENSG00000159495.7 | ENST00000452443.2 |
| exon_skip_126477 | 15 | 43577011:43577150:43579477:43579655:43579738:43579867 | 43579477:43579655 | ENSG00000159495.7 | ENST00000452443.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TGM7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_126474 | 15 | 43569059:43569193:43571314:43571475:43571822:43572149 | 43571314:43571475 | ENSG00000159495.7 | ENST00000452443.2 |
| exon_skip_126476 | 15 | 43571822:43572149:43574041:43574284:43574714:43574818 | 43574041:43574284 | ENSG00000159495.7 | ENST00000452443.2 |
| exon_skip_126477 | 15 | 43577011:43577150:43579477:43579655:43579738:43579867 | 43579477:43579655 | ENSG00000159495.7 | ENST00000452443.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TGM7 |
| 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 |
| ENST00000452443 | 43571314 | 43571475 | Frame-shift |
| ENST00000452443 | 43579477 | 43579655 | Frame-shift |
| ENST00000452443 | 43574041 | 43574284 | 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 |
| ENST00000452443 | 43571314 | 43571475 | Frame-shift |
| ENST00000452443 | 43579477 | 43579655 | Frame-shift |
| ENST00000452443 | 43574041 | 43574284 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TGM7 |
| 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 |
| ENST00000452443 | 2330 | 710 | 43574041 | 43574284 | 1114 | 1356 | 369 | 450 |
| 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 |
| ENST00000452443 | 2330 | 710 | 43574041 | 43574284 | 1114 | 1356 | 369 | 450 |
| 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 |
| Q96PF1 | 369 | 450 | 1 | 710 | Chain | ID=PRO_0000213716;Note=Protein-glutamine gamma-glutamyltransferase Z |
| Q96PF1 | 369 | 450 | 401 | 401 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96PF1 | 369 | 450 | 403 | 403 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96PF1 | 369 | 450 | 450 | 450 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q96PF1 | 369 | 450 | 1 | 710 | Chain | ID=PRO_0000213716;Note=Protein-glutamine gamma-glutamyltransferase Z |
| Q96PF1 | 369 | 450 | 401 | 401 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96PF1 | 369 | 450 | 403 | 403 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q96PF1 | 369 | 450 | 450 | 450 | Metal binding | Note=Calcium;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Top |
SNVs in the skipped exons for TGM7 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_126476 | 43574042 | 43574284 | 43574064 | 43574064 | Frame_Shift_Del | G | - | p.T443fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_126477 | 43579478 | 43579655 | 43579560 | 43579560 | Frame_Shift_Del | G | - | p.A261fs |
| HNSC | TCGA-CV-7418-01 | exon_skip_126477 | 43579478 | 43579655 | 43579612 | 43579612 | Frame_Shift_Del | C | - | p.G244fs |
| LUAD | TCGA-99-8033-01 | exon_skip_126477 | 43579478 | 43579655 | 43579515 | 43579515 | Nonsense_Mutation | G | T | p.Y276* |
| PRAD | TCGA-G9-7525-01 | exon_skip_126477 | 43579478 | 43579655 | 43579553 | 43579553 | Nonsense_Mutation | G | A | p.Q264* |
| PRAD | TCGA-G9-7525-01 | exon_skip_126477 | 43579478 | 43579655 | 43579553 | 43579553 | Nonsense_Mutation | G | A | p.Q264X |
| BRCA | TCGA-A2-A0CT-01 | exon_skip_126474 | 43571315 | 43571475 | 43571476 | 43571476 | Splice_Site | C | T | e11-1 |
| - 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 |
| HKA1_SKIN | 43571315 | 43571475 | 43571373 | 43571373 | Missense_Mutation | C | T | p.G594E |
| TC138_BONE | 43571315 | 43571475 | 43571376 | 43571376 | Missense_Mutation | G | C | p.T593R |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43571315 | 43571475 | 43571389 | 43571389 | Missense_Mutation | C | T | p.E589K |
| JHUEM1_ENDOMETRIUM | 43571315 | 43571475 | 43571392 | 43571392 | Missense_Mutation | C | T | p.A588T |
| SNU308_BILIARY_TRACT | 43571315 | 43571475 | 43571424 | 43571424 | Missense_Mutation | G | A | p.T577M |
| SISO_CERVIX | 43571315 | 43571475 | 43571448 | 43571448 | Missense_Mutation | T | C | p.Y569C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43571315 | 43571475 | 43571448 | 43571448 | Missense_Mutation | T | C | p.Y569C |
| PANC0213_PANCREAS | 43574042 | 43574284 | 43574077 | 43574077 | Missense_Mutation | C | T | p.R439H |
| SNU899_UPPER_AERODIGESTIVE_TRACT | 43574042 | 43574284 | 43574189 | 43574189 | Missense_Mutation | C | T | p.A402T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43574042 | 43574284 | 43574233 | 43574233 | Missense_Mutation | A | G | p.V387A |
| HT115_LARGE_INTESTINE | 43574042 | 43574284 | 43574263 | 43574263 | Missense_Mutation | G | A | p.A377V |
| HT115_LARGE_INTESTINE | 43579478 | 43579655 | 43579496 | 43579496 | Missense_Mutation | C | T | p.A283T |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43579478 | 43579655 | 43579513 | 43579513 | Missense_Mutation | C | G | p.G277A |
| SW48_LARGE_INTESTINE | 43579478 | 43579655 | 43579523 | 43579523 | Missense_Mutation | C | T | p.V274M |
| HCC56_LARGE_INTESTINE | 43579478 | 43579655 | 43579536 | 43579536 | Missense_Mutation | C | A | p.R269S |
| NCIH1573_LUNG | 43579478 | 43579655 | 43579576 | 43579576 | Missense_Mutation | C | A | p.W256L |
| HOP62_LUNG | 43579478 | 43579655 | 43579643 | 43579643 | Missense_Mutation | C | T | p.D234N |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 43579478 | 43579655 | 43579648 | 43579648 | Missense_Mutation | C | T | p.S232N |
| NCIH1975_LUNG | 43579478 | 43579655 | 43579478 | 43579478 | Splice_Site | C | A | p.V289L |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TGM7 |
| 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 TGM7 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGM7 |
Top |
RelatedDrugs for TGM7 |
| 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 TGM7 |
| 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)
|