|
||||||
|
 | |
| |
| |
| |
| 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 TMX2 |
 Gene summary |
| Gene information | Gene symbol | TMX2 | Gene ID | 51075 |
| Gene name | thioredoxin related transmembrane protein 2 | |
| Synonyms | CGI-31|PDIA12|PIG26|TXNDC14 | |
| Cytomap | 11q12.1 | |
| Type of gene | protein-coding | |
| Description | thioredoxin-related transmembrane protein 2cell proliferation-inducing gene 26 proteingrowth-inhibiting gene 11protein disulfide isomerase family A, member 12thioredoxin domain-containing protein 14 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y320 | |
| Context | PubMed: TMX2 [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 TMX2 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 TMX2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for TMX2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_59435 | 11 | 57505079:57505140:57505307:57505498:57505825:57505902 | 57505307:57505498 | ENSG00000213593.5 | ENST00000529403.1 |
| exon_skip_59436 | 11 | 57505079:57505140:57505307:57505498:57506135:57506242 | 57505307:57505498 | ENSG00000213593.5 | ENST00000525035.1 |
| exon_skip_59439 | 11 | 57505079:57505140:57505384:57505498:57505825:57505902 | 57505384:57505498 | ENSG00000213593.5 | ENST00000278422.4 |
| exon_skip_59442 | 11 | 57505079:57505140:57505825:57505902:57506135:57506242 | 57505825:57505902 | ENSG00000213593.5 | ENST00000378312.4 |
| exon_skip_59444 | 11 | 57505079:57505140:57506135:57506511:57506602:57506732 | 57506135:57506511 | ENSG00000213593.5 | ENST00000524972.1 |
| exon_skip_59445 | 11 | 57505307:57505498:57505825:57505902:57506135:57506242 | 57505825:57505902 | ENSG00000213593.5 | ENST00000529403.1,ENST00000278422.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for TMX2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_59435 | 11 | 57505079:57505140:57505307:57505498:57505825:57505902 | 57505307:57505498 | ENSG00000213593.5 | ENST00000529403.1 |
| exon_skip_59436 | 11 | 57505079:57505140:57505307:57505498:57506135:57506242 | 57505307:57505498 | ENSG00000213593.5 | ENST00000525035.1 |
| exon_skip_59439 | 11 | 57505079:57505140:57505384:57505498:57505825:57505902 | 57505384:57505498 | ENSG00000213593.5 | ENST00000278422.4 |
| exon_skip_59442 | 11 | 57505079:57505140:57505825:57505902:57506135:57506242 | 57505825:57505902 | ENSG00000213593.5 | ENST00000378312.4 |
| exon_skip_59444 | 11 | 57505079:57505140:57506135:57506511:57506602:57506732 | 57506135:57506511 | ENSG00000213593.5 | ENST00000524972.1 |
| exon_skip_59445 | 11 | 57505307:57505498:57505825:57505902:57506135:57506242 | 57505825:57505902 | ENSG00000213593.5 | ENST00000278422.4,ENST00000529403.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for TMX2 |
| 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 |
| ENST00000278422 | 57505825 | 57505902 | Frame-shift |
| ENST00000278422 | 57505384 | 57505498 | 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 |
| ENST00000278422 | 57505825 | 57505902 | Frame-shift |
| ENST00000278422 | 57505384 | 57505498 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for TMX2 |
| 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 |
| ENST00000278422 | 1648 | 296 | 57505384 | 57505498 | 263 | 376 | 83 | 121 |
| 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 |
| ENST00000278422 | 1648 | 296 | 57505384 | 57505498 | 263 | 376 | 83 | 121 |
| 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 |
| Q9Y320 | 83 | 121 | 84 | 122 | Alternative sequence | ID=VSP_030696;Note=In isoform 2. ITVEQHIGNIFMFSKVANTILFFRLDIRMGLLYITLCIV->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y320 | 83 | 121 | 49 | 296 | Chain | ID=PRO_0000315752;Note=Thioredoxin-related transmembrane protein 2 |
| Q9Y320 | 83 | 121 | 114 | 269 | Domain | Note=Thioredoxin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
| Q9Y320 | 83 | 121 | 90 | 90 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y320 | 83 | 121 | 49 | 102 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y320 | 83 | 121 | 103 | 125 | Transmembrane | Note=Helical;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 |
| Q9Y320 | 83 | 121 | 84 | 122 | Alternative sequence | ID=VSP_030696;Note=In isoform 2. ITVEQHIGNIFMFSKVANTILFFRLDIRMGLLYITLCIV->M;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y320 | 83 | 121 | 49 | 296 | Chain | ID=PRO_0000315752;Note=Thioredoxin-related transmembrane protein 2 |
| Q9Y320 | 83 | 121 | 114 | 269 | Domain | Note=Thioredoxin;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00691 |
| Q9Y320 | 83 | 121 | 90 | 90 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9Y320 | 83 | 121 | 49 | 102 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y320 | 83 | 121 | 103 | 125 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for TMX2 |
| - 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 |
| KIRC | TCGA-CW-6090-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505890 | 57505890 | Frame_Shift_Del | T | - | p.D143fs |
| KIRC | TCGA-A3-3363-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.NP128fs |
| KIRC | TCGA-A3-3374-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.NP128fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.K128fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.K128fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.K128fs |
| SARC | TCGA-MB-A5YA-01 | exon_skip_59442 exon_skip_59445 | 57505826 | 57505902 | 57505881 | 57505881 | Nonsense_Mutation | C | G | p.Y140* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_59444 | 57506136 | 57506511 | 57506209 | 57506209 | Nonsense_Mutation | C | A | p.S172* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_59444 | 57506136 | 57506511 | 57506209 | 57506209 | Nonsense_Mutation | C | A | p.S172X |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_59444 | 57506136 | 57506511 | 57506486 | 57506486 | Nonsense_Mutation | G | T | p.G197* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-D3-A8GI-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_59444 | |
| Skipped exon start: 57506136 | |
| Skipped exon end: 57506511 | |
| Mutation start: 57506486 | |
| Mutation end: 57506486 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.G197* | |
exon_skip_121036_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_127622_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_127623_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_347530_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_347668_SKCM_TCGA-D3-A8GI-06.png | |
exon_skip_59444_SKCM_TCGA-D3-A8GI-06.png | |
 | Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_59444 | |
| Skipped exon start: 57506136 | |
| Skipped exon end: 57506511 | |
| Mutation start: 57506209 | |
| Mutation end: 57506209 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.S172X | |
| Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_59444 | |
| Skipped exon start: 57506136 | |
| Skipped exon end: 57506511 | |
| Mutation start: 57506209 | |
| Mutation end: 57506209 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.S172* | |
exon_skip_149665_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_299626_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_344918_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_360263_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_382353_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_385882_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_443509_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_45962_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_48320_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_484856_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_59444_UCS_TCGA-ND-A4WC-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 |
| HEC108_ENDOMETRIUM | 57505308 | 57505498 | 57505442 | 57505442 | Frame_Shift_Del | T | - | p.I103fs |
| HEC108_ENDOMETRIUM | 57505385 | 57505498 | 57505442 | 57505442 | Frame_Shift_Del | T | - | p.I103fs |
| HEC6_ENDOMETRIUM | 57505826 | 57505902 | 57505846 | 57505846 | Frame_Shift_Del | C | - | p.P130fs |
| SW48_LARGE_INTESTINE | 57505826 | 57505902 | 57505846 | 57505846 | Frame_Shift_Del | C | - | p.P130fs |
| P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 57506136 | 57506511 | 57506196 | 57506196 | Frame_Shift_Del | A | - | p.N168fs |
| MFE319_ENDOMETRIUM | 57505826 | 57505902 | 57505845 | 57505846 | Frame_Shift_Ins | - | C | p.P129fs |
| NCIH2066_LUNG | 57505308 | 57505498 | 57505454 | 57505454 | Missense_Mutation | G | C | p.R107P |
| NCIH2066_LUNG | 57505385 | 57505498 | 57505454 | 57505454 | Missense_Mutation | G | C | p.R107P |
| CW2_LARGE_INTESTINE | 57505308 | 57505498 | 57505463 | 57505463 | Missense_Mutation | T | A | p.I110N |
| CW2_LARGE_INTESTINE | 57505385 | 57505498 | 57505463 | 57505463 | Missense_Mutation | T | A | p.I110N |
| SKNSH_AUTONOMIC_GANGLIA | 57505308 | 57505498 | 57505486 | 57505486 | Missense_Mutation | A | T | p.T118S |
| SKNSH_AUTONOMIC_GANGLIA | 57505385 | 57505498 | 57505486 | 57505486 | Missense_Mutation | A | T | p.T118S |
| ISTMES1_PLEURA | 57505826 | 57505902 | 57505838 | 57505838 | Missense_Mutation | C | T | p.T126M |
| KURAMOCHI_OVARY | 57506136 | 57506511 | 57506196 | 57506196 | Missense_Mutation | A | G | p.N168D |
| SNUC4_LARGE_INTESTINE | 57506136 | 57506511 | 57506215 | 57506215 | Missense_Mutation | C | T | p.A174V |
| CP66MEL_SKIN | 57506136 | 57506511 | 57506471 | 57506471 | Missense_Mutation | G | A | p.G192R |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMX2 |
| 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 TMX2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMX2 |
Top |
RelatedDrugs for TMX2 |
| 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 TMX2 |
| 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)
|