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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 ADTRP |
Gene summary |
Gene information | Gene symbol | ADTRP | Gene ID | 84830 |
Gene name | androgen dependent TFPI regulating protein | |
Synonyms | AIG1L|C6orf105|dJ413H6.1 | |
Cytomap | 6p24.1 | |
Type of gene | protein-coding | |
Description | androgen-dependent TFPI-regulating proteinandrogen-dependent TPF1-regulating protein | |
Modification date | 20180523 | |
UniProtAcc | Q96IZ2 | |
Context | PubMed: ADTRP [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 ADTRP 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 ADTRP |
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 ADTRP |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456200 | 6 | 11714610:11714745:11717541:11717647:11723581:11723640 | 11717541:11717647 | ENSG00000111863.8 | ENST00000514824.1 |
exon_skip_456204 | 6 | 11714610:11714745:11723581:11723733:11728559:11728790 | 11723581:11723733 | ENSG00000111863.8 | ENST00000513651.1 |
exon_skip_456205 | 6 | 11714610:11714745:11723581:11723733:11735800:11735889 | 11723581:11723733 | ENSG00000111863.8 | ENST00000505099.1,ENST00000414691.3,ENST00000512139.1,ENST00000229583.5 |
exon_skip_456207 | 6 | 11717541:11717647:11723581:11723733:11735800:11735889 | 11723581:11723733 | ENSG00000111863.8 | ENST00000503285.1,ENST00000379413.2,ENST00000514824.1 |
exon_skip_456209 | 6 | 11723581:11723733:11735800:11735916:11766506:11766565 | 11735800:11735916 | ENSG00000111863.8 | ENST00000414691.3,ENST00000512139.1,ENST00000229583.5,ENST00000379413.2 |
exon_skip_456212 | 6 | 11768481:11768616:11770263:11770317:11778839:11778992 | 11770263:11770317 | ENSG00000111863.8 | ENST00000229583.5 |
exon_skip_456214 | 6 | 11768481:11768616:11770263:11770322:11778839:11778992 | 11770263:11770322 | ENSG00000111863.8 | ENST00000485323.2 |
exon_skip_456221 | 6 | 11768481:11768616:11778839:11779199:11803247:11803342 | 11778839:11779199 | ENSG00000111863.8 | ENST00000379415.2 |
exon_skip_456230 | 6 | 11778839:11779199:11803247:11803362:11807116:11807279 | 11803247:11803362 | ENSG00000111863.8 | ENST00000379415.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADTRP |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456200 | 6 | 11714610:11714745:11717541:11717647:11723581:11723640 | 11717541:11717647 | ENSG00000111863.8 | ENST00000514824.1 |
exon_skip_456204 | 6 | 11714610:11714745:11723581:11723733:11728559:11728790 | 11723581:11723733 | ENSG00000111863.8 | ENST00000513651.1 |
exon_skip_456205 | 6 | 11714610:11714745:11723581:11723733:11735800:11735889 | 11723581:11723733 | ENSG00000111863.8 | ENST00000505099.1,ENST00000414691.3,ENST00000512139.1,ENST00000229583.5 |
exon_skip_456207 | 6 | 11717541:11717647:11723581:11723733:11735800:11735889 | 11723581:11723733 | ENSG00000111863.8 | ENST00000514824.1,ENST00000503285.1,ENST00000379413.2 |
exon_skip_456209 | 6 | 11723581:11723733:11735800:11735916:11766506:11766565 | 11735800:11735916 | ENSG00000111863.8 | ENST00000414691.3,ENST00000512139.1,ENST00000229583.5,ENST00000379413.2 |
exon_skip_456212 | 6 | 11768481:11768616:11770263:11770317:11778839:11778992 | 11770263:11770317 | ENSG00000111863.8 | ENST00000229583.5 |
exon_skip_456214 | 6 | 11768481:11768616:11770263:11770322:11778839:11778992 | 11770263:11770322 | ENSG00000111863.8 | ENST00000485323.2 |
exon_skip_456221 | 6 | 11768481:11768616:11778839:11779199:11803247:11803342 | 11778839:11779199 | ENSG00000111863.8 | ENST00000379415.2 |
exon_skip_456230 | 6 | 11778839:11779199:11803247:11803362:11807116:11807279 | 11803247:11803362 | ENSG00000111863.8 | ENST00000379415.2 |
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 ADTRP |
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 |
ENST00000414691 | 11723581 | 11723733 | Frame-shift |
ENST00000414691 | 11735800 | 11735916 | 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 |
ENST00000414691 | 11723581 | 11723733 | Frame-shift |
ENST00000414691 | 11735800 | 11735916 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ADTRP |
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 ADTRP |
- 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 |
KIRP | TCGA-DW-7840-01 | exon_skip_456207 exon_skip_456204 exon_skip_456205 | 11723582 | 11723733 | 11723657 | 11723657 | Frame_Shift_Del | C | - | p.A195fs |
KIRP | TCGA-DW-7840-01 | exon_skip_456207 exon_skip_456204 exon_skip_456205 | 11723582 | 11723733 | 11723657 | 11723657 | Frame_Shift_Del | C | - | p.A213fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_456209 | 11735801 | 11735916 | 11735899 | 11735899 | Frame_Shift_Del | G | - | p.P136fs |
BLCA | TCGA-XF-AAML-01 | exon_skip_456221 | 11778840 | 11779199 | 11778916 | 11778917 | Frame_Shift_Del | TG | - | p.Q26fs |
STAD | TCGA-VQ-A8DV-01 | exon_skip_456221 | 11778840 | 11779199 | 11778855 | 11778856 | Frame_Shift_Ins | - | AT | p.M46fs |
STAD | TCGA-VQ-A8DV-01 | exon_skip_456221 | 11778840 | 11779199 | 11778855 | 11778856 | Frame_Shift_Ins | - | AT | p.N46fs |
SKCM | TCGA-EE-A29S-06 | exon_skip_456207 exon_skip_456204 exon_skip_456205 | 11723582 | 11723733 | 11723584 | 11723584 | Nonsense_Mutation | C | T | p.W219* |
SKCM | TCGA-EE-A29S-06 | exon_skip_456207 exon_skip_456204 exon_skip_456205 | 11723582 | 11723733 | 11723584 | 11723584 | Nonsense_Mutation | C | T | p.W237X |
LUSC | TCGA-18-3407-01 | exon_skip_456207 exon_skip_456204 exon_skip_456205 | 11723582 | 11723733 | 11723606 | 11723606 | Nonsense_Mutation | C | A | p.E230* |
- 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 |
HCT116_LARGE_INTESTINE | 11735801 | 11735916 | 11735847 | 11735849 | In_Frame_Del | TCT | - | p.K153del |
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 11735801 | 11735916 | 11735817 | 11735817 | Missense_Mutation | T | C | p.I164V |
UACC257_SKIN | 11735801 | 11735916 | 11735868 | 11735868 | Missense_Mutation | G | A | p.H147Y |
HEC251_ENDOMETRIUM | 11778840 | 11779199 | 11778856 | 11778856 | Missense_Mutation | A | G | p.M46T |
HEC108_ENDOMETRIUM | 11778840 | 11779199 | 11778943 | 11778943 | Missense_Mutation | T | C | p.Y17C |
NCIH748_LUNG | 11778840 | 11779199 | 11778977 | 11778977 | Missense_Mutation | T | C | p.T6A |
D566MG_CENTRAL_NERVOUS_SYSTEM | 11723582 | 11723733 | 11723584 | 11723584 | Nonsense_Mutation | C | T | p.W219* |
PLB985_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 11723582 | 11723733 | 11723701 | 11723701 | Nonsense_Mutation | C | T | p.W180* |
COLO680N_OESOPHAGUS | 11778840 | 11779199 | 11778991 | 11778991 | Start_Codon_SNP | A | C | p.M1R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADTRP |
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 ADTRP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADTRP |
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RelatedDrugs for ADTRP |
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 ADTRP |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
ADTRP | C1956346 | Coronary Artery Disease | 1 | CTD_human |