|
||||||
|
 | |
| |
| |
| |
| 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 TGM1 |
 Gene summary |
| Gene information | Gene symbol | TGM1 | Gene ID | 7051 |
| Gene name | transglutaminase 1 | |
| Synonyms | ARCI1|ICR2|KTG|LI|LI1|TGASE|TGK | |
| Cytomap | 14q12 | |
| Type of gene | protein-coding | |
| Description | protein-glutamine gamma-glutamyltransferase KK polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferaseTG(K)TGase KTGase-1epidermal TGasetransglutaminase 1 isoformtransglutaminase Ktransglutaminase, keratinocyte | |
| Modification date | 20180519 | |
| UniProtAcc | P22735 | |
| Context | PubMed: TGM1 [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 |
| TGM1 | GO:0018149 | peptide cross-linking | 9722562 |
| TGM1 | GO:0030216 | keratinocyte differentiation | 8824274 |
Top |
Exon skipping events across known transcript of Ensembl for TGM1 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 TGM1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TGM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112004 | 14 | 24724659:24724723:24725194:24725283:24727490:24727594 | 24725194:24725283 | ENSG00000092295.7 | ENST00000206765.6,ENST00000544573.1,ENST00000559136.1 |
| exon_skip_112006 | 14 | 24727740:24727879:24728280:24728455:24728909:24729017 | 24728280:24728455 | ENSG00000092295.7 | ENST00000206765.6,ENST00000559136.1 |
| exon_skip_112008 | 14 | 24728909:24729017:24729145:24729264:24729655:24729904 | 24729145:24729264 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112011 | 14 | 24729145:24729264:24729655:24729904:24730900:24731089 | 24729655:24729904 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112012 | 14 | 24729655:24729904:24730900:24731089:24731239:24731560 | 24730900:24731089 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112019 | 14 | 24731530:24731560:24732294:24732398:24733139:24733444 | 24732294:24732398 | ENSG00000092295.7 | ENST00000560478.1 |
| exon_skip_112020 | 14 | 24731530:24731560:24732294:24732409:24732711:24732744 | 24732294:24732409 | ENSG00000092295.7 | ENST00000558074.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TGM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112004 | 14 | 24724659:24724723:24725194:24725283:24727490:24727594 | 24725194:24725283 | ENSG00000092295.7 | ENST00000206765.6,ENST00000544573.1,ENST00000559136.1 |
| exon_skip_112006 | 14 | 24727740:24727879:24728280:24728455:24728909:24729017 | 24728280:24728455 | ENSG00000092295.7 | ENST00000206765.6,ENST00000559136.1 |
| exon_skip_112008 | 14 | 24728909:24729017:24729145:24729264:24729655:24729904 | 24729145:24729264 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112011 | 14 | 24729145:24729264:24729655:24729904:24730900:24731089 | 24729655:24729904 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112012 | 14 | 24729655:24729904:24730900:24731089:24731239:24731560 | 24730900:24731089 | ENSG00000092295.7 | ENST00000206765.6 |
| exon_skip_112019 | 14 | 24731530:24731560:24732294:24732398:24733139:24733444 | 24732294:24732398 | ENSG00000092295.7 | ENST00000560478.1 |
| exon_skip_112020 | 14 | 24731530:24731560:24732294:24732409:24732711:24732744 | 24732294:24732409 | ENSG00000092295.7 | ENST00000558074.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TGM1 |
| 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 |
| 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 |
Top |
Infer the effects of exon skipping event on protein functional features for TGM1 |
| 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 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for TGM1 |
| - 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 |
| HNSC | TCGA-BA-A6DA-01 | exon_skip_112011 | 24729656 | 24729904 | 24729847 | 24729847 | Frame_Shift_Del | C | - | p.G189fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112011 | 24729656 | 24729904 | 24729847 | 24729847 | Frame_Shift_Del | C | - | p.G189fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112011 | 24729656 | 24729904 | 24729862 | 24729862 | Frame_Shift_Del | G | - | p.P184fs |
| STAD | TCGA-CG-5721-01 | exon_skip_112011 | 24729656 | 24729904 | 24729846 | 24729847 | Frame_Shift_Ins | - | C | p.G189fs |
| STAD | TCGA-CG-5726-01 | exon_skip_112011 | 24729656 | 24729904 | 24729846 | 24729847 | Frame_Shift_Ins | - | C | p.G189fs |
| STAD | TCGA-CG-5721-01 | exon_skip_112011 | 24729656 | 24729904 | 24729847 | 24729848 | Frame_Shift_Ins | - | C | p.G189fs |
| STAD | TCGA-CG-5726-01 | exon_skip_112011 | 24729656 | 24729904 | 24729847 | 24729848 | Frame_Shift_Ins | - | C | p.G189fs |
| THYM | TCGA-4V-A9QQ-01 | exon_skip_112008 | 24729146 | 24729264 | 24729184 | 24729184 | Nonsense_Mutation | C | A | p.E280X |
| SKCM | TCGA-D3-A1Q1-06 | exon_skip_112008 | 24729146 | 24729264 | 24729191 | 24729191 | Nonsense_Mutation | G | T | p.Y277* |
| SKCM | TCGA-D3-A1Q1-06 | exon_skip_112008 | 24729146 | 24729264 | 24729191 | 24729191 | Nonsense_Mutation | G | T | p.Y277X |
| SKCM | TCGA-EE-A2ML-06 | exon_skip_112011 | 24729656 | 24729904 | 24729713 | 24729713 | Nonsense_Mutation | G | A | p.Q234* |
| CHOL | TCGA-W5-AA2U-01 | exon_skip_112011 | 24729656 | 24729904 | 24729730 | 24729730 | Nonsense_Mutation | G | T | p.S228* |
| CHOL | TCGA-W5-AA2U-01 | exon_skip_112011 | 24729656 | 24729904 | 24729730 | 24729730 | Nonsense_Mutation | G | T | p.S228X |
| - 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 |
| D542MG_CENTRAL_NERVOUS_SYSTEM | 24729146 | 24729264 | 24729150 | 24729158 | In_Frame_Del | CCGTAGTTC | - | p.288_291WNYG>C |
| NCIH1568_LUNG | 24725195 | 24725283 | 24725197 | 24725197 | Missense_Mutation | C | G | p.E497Q |
| MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24725195 | 24725283 | 24725220 | 24725220 | Missense_Mutation | T | C | p.Y489C |
| CA922_UPPER_AERODIGESTIVE_TRACT | 24728281 | 24728455 | 24728335 | 24728335 | Missense_Mutation | C | T | p.G369R |
| SNU1040_LARGE_INTESTINE | 24728281 | 24728455 | 24728338 | 24728338 | Missense_Mutation | T | C | p.T368A |
| SNU1040_LARGE_INTESTINE | 24728281 | 24728455 | 24728341 | 24728341 | Missense_Mutation | G | A | p.R367C |
| CL11_LARGE_INTESTINE | 24728281 | 24728455 | 24728379 | 24728379 | Missense_Mutation | G | A | p.A354V |
| LNCAPCLONEFGC_PROSTATE | 24728281 | 24728455 | 24728379 | 24728379 | Missense_Mutation | G | A | p.A354V |
| LNCAPCLONEFGC_PROSTATE | 24728281 | 24728455 | 24728387 | 24728387 | Missense_Mutation | G | T | p.N351K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24728281 | 24728455 | 24728395 | 24728395 | Missense_Mutation | C | A | p.G349C |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24729146 | 24729264 | 24729150 | 24729150 | Missense_Mutation | C | T | p.G291D |
| HMEL_BREAST | 24729146 | 24729264 | 24729184 | 24729184 | Missense_Mutation | C | T | p.E280K |
| SNUC2A_LARGE_INTESTINE | 24729656 | 24729904 | 24729700 | 24729700 | Missense_Mutation | T | C | p.D238G |
| SNUC2B_LARGE_INTESTINE | 24729656 | 24729904 | 24729700 | 24729700 | Missense_Mutation | T | C | p.D238G |
| OACM51_OESOPHAGUS | 24729656 | 24729904 | 24729736 | 24729736 | Missense_Mutation | G | T | p.T226K |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24729656 | 24729904 | 24729739 | 24729739 | Missense_Mutation | C | T | p.R225H |
| NCIH650_LUNG | 24729656 | 24729904 | 24729788 | 24729788 | Missense_Mutation | C | T | p.V209I |
| NCIH660_PROSTATE | 24729656 | 24729904 | 24729811 | 24729811 | Missense_Mutation | C | A | p.S201I |
| A253_SALIVARY_GLAND | 24729656 | 24729904 | 24729838 | 24729838 | Missense_Mutation | C | A | p.G192V |
| RVH421_SKIN | 24730901 | 24731089 | 24730918 | 24730918 | Missense_Mutation | G | A | p.T164I |
| KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24730901 | 24731089 | 24730963 | 24730963 | Missense_Mutation | A | G | p.M149T |
| SW684_SOFT_TISSUE | 24730901 | 24731089 | 24730964 | 24730964 | Missense_Mutation | T | A | p.M149L |
| SNU520_STOMACH | 24730901 | 24731089 | 24730979 | 24730979 | Missense_Mutation | C | T | p.G144R |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 24730901 | 24731089 | 24731033 | 24731033 | Missense_Mutation | G | A | p.R126C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24730901 | 24731089 | 24730902 | 24730902 | Splice_Site | G | A | p.I169I |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TGM1 |
| 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 TGM1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TGM1 |
Top |
RelatedDrugs for TGM1 |
| 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 TGM1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TGM1 | C0020758 | Congenital ichthyosis | 8 | ORPHANET;UNIPROT |
| TGM1 | C0013238 | Dry Eye Syndromes | 1 | CTD_human |
| TGM1 | C0023895 | Liver diseases | 1 | CTD_human |
| TGM1 | C0042842 | Vitamin A Deficiency | 1 | CTD_human |
| TGM1 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| TGM1 | C0263454 | Chloracne | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|