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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 TXNDC16 |
Gene summary |
Gene information | Gene symbol | TXNDC16 | Gene ID | 57544 |
Gene name | thioredoxin domain containing 16 | |
Synonyms | ERp90|KIAA1344 | |
Cytomap | 14q22.1 | |
Type of gene | protein-coding | |
Description | thioredoxin domain-containing protein 16 | |
Modification date | 20180519 | |
UniProtAcc | Q9P2K2 | |
Context | PubMed: TXNDC16 [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 |
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Exon skipping events across known transcript of Ensembl for TXNDC16 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 TXNDC16 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for TXNDC16 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_113317 | 14 | 52907281:52907442:52922041:52922180:52923807:52923892 | 52922041:52922180 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113323 | 14 | 52922158:52922180:52923807:52923892:52936754:52936891 | 52923807:52923892 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113326 | 14 | 52923807:52923892:52929529:52929688:52936754:52936885 | 52929529:52929688 | ENSG00000087301.4 | ENST00000555312.1 |
exon_skip_113331 | 14 | 52955080:52955204:52957108:52957169:52957556:52957723 | 52957108:52957169 | ENSG00000087301.4 | ENST00000557374.1,ENST00000281741.4 |
exon_skip_113334 | 14 | 52957556:52957723:52977957:52978108:52981597:52981688 | 52977957:52978108 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113335 | 14 | 53003436:53003511:53004316:53004390:53009088:53009171 | 53004316:53004390 | ENSG00000087301.4 | ENST00000281741.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TXNDC16 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_113317 | 14 | 52907281:52907442:52922041:52922180:52923807:52923892 | 52922041:52922180 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113323 | 14 | 52922158:52922180:52923807:52923892:52936754:52936891 | 52923807:52923892 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113326 | 14 | 52923807:52923892:52929529:52929688:52936754:52936885 | 52929529:52929688 | ENSG00000087301.4 | ENST00000555312.1 |
exon_skip_113331 | 14 | 52955080:52955204:52957108:52957169:52957556:52957723 | 52957108:52957169 | ENSG00000087301.4 | ENST00000281741.4,ENST00000557374.1 |
exon_skip_113334 | 14 | 52957556:52957723:52977957:52978108:52981597:52981688 | 52977957:52978108 | ENSG00000087301.4 | ENST00000281741.4 |
exon_skip_113335 | 14 | 53003436:53003511:53004316:53004390:53009088:53009171 | 53004316:53004390 | ENSG00000087301.4 | ENST00000281741.4 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for TXNDC16 |
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 |
ENST00000281741 | 52922041 | 52922180 | Frame-shift |
ENST00000281741 | 52923807 | 52923892 | Frame-shift |
ENST00000281741 | 52957108 | 52957169 | Frame-shift |
ENST00000281741 | 52977957 | 52978108 | Frame-shift |
ENST00000281741 | 53004316 | 53004390 | Frame-shift |
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 |
ENST00000281741 | 52922041 | 52922180 | Frame-shift |
ENST00000281741 | 52923807 | 52923892 | Frame-shift |
ENST00000281741 | 52957108 | 52957169 | Frame-shift |
ENST00000281741 | 52977957 | 52978108 | Frame-shift |
ENST00000281741 | 53004316 | 53004390 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for TXNDC16 |
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 |
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SNVs in the skipped exons for TXNDC16 |
- 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-DD-A39Y-01 | exon_skip_113323 | 52923808 | 52923892 | 52923814 | 52923814 | Frame_Shift_Del | A | - | p.L568fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_113323 | 52923808 | 52923892 | 52923814 | 52923814 | Frame_Shift_Del | A | - | p.L568fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_113323 | 52923808 | 52923892 | 52923855 | 52923855 | Frame_Shift_Del | T | - | p.K552fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_113323 | 52923808 | 52923892 | 52923855 | 52923855 | Frame_Shift_Del | T | - | p.K552fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_113334 | 52977958 | 52978108 | 52978072 | 52978072 | Frame_Shift_Del | A | - | p.F214fs |
BRCA | TCGA-A1-A0SP-01 | exon_skip_113334 | 52977958 | 52978108 | 52978095 | 52978095 | Nonsense_Mutation | C | A | p.E207* |
LGG | TCGA-FG-5963-01 | exon_skip_113317 | 52922042 | 52922180 | 52922041 | 52922041 | Splice_Site | C | T | . |
- 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 |
MEWO_SKIN | 52922042 | 52922180 | 52922068 | 52922068 | Missense_Mutation | T | A | p.I606L |
PFEIFFER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52922042 | 52922180 | 52922095 | 52922095 | Missense_Mutation | T | G | p.T597P |
NCIH1568_LUNG | 52923808 | 52923892 | 52923848 | 52923848 | Missense_Mutation | C | A | p.V555F |
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52957109 | 52957169 | 52957140 | 52957140 | Missense_Mutation | T | C | p.D318G |
CORL47_LUNG | 52977958 | 52978108 | 52977963 | 52977963 | Missense_Mutation | G | T | p.L251M |
MERO41_LUNG | 52977958 | 52978108 | 52977975 | 52977975 | Missense_Mutation | T | C | p.M247V |
JHUEM7_ENDOMETRIUM | 52977958 | 52978108 | 52978005 | 52978005 | Missense_Mutation | T | C | p.T237A |
SW1783_CENTRAL_NERVOUS_SYSTEM | 52977958 | 52978108 | 52978048 | 52978048 | Missense_Mutation | C | A | p.L222F |
CORL47_LUNG | 52977958 | 52978108 | 52978071 | 52978071 | Missense_Mutation | G | T | p.H215N |
SUM229PE_BREAST | 52977958 | 52978108 | 52978085 | 52978085 | Missense_Mutation | T | C | p.H210R |
HEC251_ENDOMETRIUM | 52923808 | 52923892 | 52923887 | 52923887 | Nonsense_Mutation | C | A | p.E542* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TXNDC16 |
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 TXNDC16 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TXNDC16 |
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RelatedDrugs for TXNDC16 |
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 TXNDC16 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |