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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 TRO |
Gene summary |
Gene information | Gene symbol | TRO | Gene ID | 7216 |
Gene name | trophinin | |
Synonyms | MAGE-d3|MAGED3 | |
Cytomap | Xp11.21 | |
Type of gene | protein-coding | |
Description | trophininMAGE superfamily proteinMAGE-D3 antigenmagphininmelanoma antigen, family D, 3 | |
Modification date | 20180519 | |
UniProtAcc | Q12816 | |
Context | PubMed: TRO [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 TRO 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 TRO |
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 TRO |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_510731 | X | 54947228:54947311:54947398:54947492:54948650:54948724 | 54947398:54947492 | ENSG00000067445.16 | ENST00000430420.1 |
exon_skip_510732 | X | 54947257:54947311:54948635:54948724:54949010:54949171 | 54948635:54948724 | ENSG00000067445.16 | ENST00000319167.8,ENST00000173898.7 |
exon_skip_510733 | X | 54947256:54947311:54948635:54948724:54950883:54950988 | 54948635:54948724 | ENSG00000067445.16 | ENST00000431115.1 |
exon_skip_510735 | X | 54947257:54947311:54948650:54948724:54949010:54949171 | 54948650:54948724 | ENSG00000067445.16 | ENST00000445561.1,ENST00000375022.4 |
exon_skip_510736 | X | 54947256:54947311:54948650:54948724:54950883:54950988 | 54948650:54948724 | ENSG00000067445.16 | ENST00000399736.1 |
exon_skip_510740 | X | 54948650:54948724:54949010:54950201:54950883:54950988 | 54949010:54950201 | ENSG00000067445.16 | ENST00000319167.8,ENST00000445561.1,ENST00000375022.4,ENST00000173898.7 |
exon_skip_510741 | X | 54948650:54948724:54950262:54950379:54950883:54950988 | 54950262:54950379 | ENSG00000067445.16 | ENST00000484031.1 |
exon_skip_510743 | X | 54953015:54953058:54953475:54953538:54954099:54954214 | 54953475:54953538 | ENSG00000067445.16 | ENST00000319167.8,ENST00000420798.2,ENST00000399736.1,ENST00000445561.1,ENST00000375041.2,ENST00000375022.4,ENST00000173898.7 |
exon_skip_510749 | X | 54955035:54955143:54957173:54957464:54957636:54957862 | 54957173:54957464 | ENSG00000067445.16 | ENST00000445561.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TRO |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_510731 | X | 54947228:54947311:54947398:54947492:54948650:54948724 | 54947398:54947492 | ENSG00000067445.16 | ENST00000430420.1 |
exon_skip_510732 | X | 54947257:54947311:54948635:54948724:54949010:54949171 | 54948635:54948724 | ENSG00000067445.16 | ENST00000173898.7,ENST00000319167.8 |
exon_skip_510733 | X | 54947256:54947311:54948635:54948724:54950883:54950988 | 54948635:54948724 | ENSG00000067445.16 | ENST00000431115.1 |
exon_skip_510735 | X | 54947257:54947311:54948650:54948724:54949010:54949171 | 54948650:54948724 | ENSG00000067445.16 | ENST00000445561.1,ENST00000375022.4 |
exon_skip_510736 | X | 54947256:54947311:54948650:54948724:54950883:54950988 | 54948650:54948724 | ENSG00000067445.16 | ENST00000399736.1 |
exon_skip_510740 | X | 54948650:54948724:54949010:54950201:54950883:54950988 | 54949010:54950201 | ENSG00000067445.16 | ENST00000173898.7,ENST00000319167.8,ENST00000445561.1,ENST00000375022.4 |
exon_skip_510741 | X | 54948650:54948724:54950262:54950379:54950883:54950988 | 54950262:54950379 | ENSG00000067445.16 | ENST00000484031.1 |
exon_skip_510743 | X | 54953015:54953058:54953475:54953538:54954099:54954214 | 54953475:54953538 | ENSG00000067445.16 | ENST00000173898.7,ENST00000319167.8,ENST00000445561.1,ENST00000375022.4,ENST00000399736.1,ENST00000420798.2,ENST00000375041.2 |
exon_skip_510749 | X | 54955035:54955143:54957173:54957464:54957636:54957862 | 54957173:54957464 | ENSG00000067445.16 | ENST00000445561.1 |
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 TRO |
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 |
ENST00000173898 | 54948635 | 54948724 | 5CDS-5UTR |
ENST00000173898 | 54949010 | 54950201 | In-frame |
ENST00000173898 | 54953475 | 54953538 | 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 |
ENST00000173898 | 54948635 | 54948724 | 5CDS-5UTR |
ENST00000173898 | 54949010 | 54950201 | In-frame |
ENST00000173898 | 54953475 | 54953538 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TRO |
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 |
ENST00000173898 | 4664 | 1431 | 54949010 | 54950201 | 158 | 1348 | 15 | 412 |
ENST00000173898 | 4664 | 1431 | 54953475 | 54953538 | 1813 | 1875 | 567 | 587 |
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 |
ENST00000173898 | 4664 | 1431 | 54949010 | 54950201 | 158 | 1348 | 15 | 412 |
ENST00000173898 | 4664 | 1431 | 54953475 | 54953538 | 1813 | 1875 | 567 | 587 |
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 |
Q12816 | 15 | 412 | 1 | 469 | Alternative sequence | ID=VSP_053937;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q12816 | 15 | 412 | 16 | 412 | Alternative sequence | ID=VSP_053938;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q12816 | 15 | 412 | 1 | 1431 | Chain | ID=PRO_0000156742;Note=Trophinin |
Q12816 | 15 | 412 | 65 | 65 | Natural variant | ID=VAR_062122;Note=R->W;Dbxref=dbSNP:rs60674633 |
Q12816 | 567 | 587 | 1 | 1431 | Chain | ID=PRO_0000156742;Note=Trophinin |
Q12816 | 567 | 587 | 444 | 642 | Domain | Note=MAGE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00127 |
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 |
Q12816 | 15 | 412 | 1 | 469 | Alternative sequence | ID=VSP_053937;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q12816 | 15 | 412 | 16 | 412 | Alternative sequence | ID=VSP_053938;Note=In isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q12816 | 15 | 412 | 1 | 1431 | Chain | ID=PRO_0000156742;Note=Trophinin |
Q12816 | 15 | 412 | 65 | 65 | Natural variant | ID=VAR_062122;Note=R->W;Dbxref=dbSNP:rs60674633 |
Q12816 | 567 | 587 | 1 | 1431 | Chain | ID=PRO_0000156742;Note=Trophinin |
Q12816 | 567 | 587 | 444 | 642 | Domain | Note=MAGE;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00127 |
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SNVs in the skipped exons for TRO |
- 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-BC-A112-01 | exon_skip_510740 | 54949011 | 54950201 | 54950009 | 54950010 | Frame_Shift_Ins | - | A | p.G349fs |
LUAD | TCGA-86-A4JF-01 | exon_skip_510749 | 54957174 | 54957464 | 54957424 | 54957425 | Frame_Shift_Ins | - | T | p.W1423fs |
LUSC | TCGA-66-2782-01 | exon_skip_510740 | 54949011 | 54950201 | 54949443 | 54949443 | Nonsense_Mutation | G | T | p.E160* |
LIHC | TCGA-CC-A8HT-01 | exon_skip_510740 | 54949011 | 54950201 | 54949458 | 54949458 | Nonsense_Mutation | C | T | p.Q165X |
UCEC | TCGA-E6-A1LZ-01 | exon_skip_510740 | 54949011 | 54950201 | 54950196 | 54950196 | Nonsense_Mutation | C | T | p.R411* |
STAD | TCGA-HU-A4GT-01 | exon_skip_510740 | 54949011 | 54950201 | 54949009 | 54949009 | Splice_Site | A | G | p.G16_splice |
- 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 |
SH4_SKIN | 54949011 | 54950201 | 54949057 | 54949069 | Frame_Shift_Del | ATATACAGACTGA | - | p.DIQTE31fs |
MKN45_STOMACH | 54949011 | 54950201 | 54949299 | 54949300 | Frame_Shift_Ins | - | T | p.I112fs |
FLO1_OESOPHAGUS | 54949011 | 54950201 | 54949049 | 54949049 | Missense_Mutation | C | A | p.F28L |
MCC13_SKIN | 54949011 | 54950201 | 54949051 | 54949051 | Missense_Mutation | C | T | p.P29L |
A172_CENTRAL_NERVOUS_SYSTEM | 54949011 | 54950201 | 54949138 | 54949138 | Missense_Mutation | T | C | p.M58T |
CW2_LARGE_INTESTINE | 54949011 | 54950201 | 54949296 | 54949296 | Missense_Mutation | G | A | p.V111I |
IGROV1_OVARY | 54949011 | 54950201 | 54949363 | 54949363 | Missense_Mutation | C | T | p.T133I |
PLCPRF5_LIVER | 54949011 | 54950201 | 54949435 | 54949435 | Missense_Mutation | C | T | p.T157I |
SAS_UPPER_AERODIGESTIVE_TRACT | 54949011 | 54950201 | 54949491 | 54949491 | Missense_Mutation | C | A | p.P176T |
SLR21_KIDNEY | 54949011 | 54950201 | 54949521 | 54949521 | Missense_Mutation | A | G | p.I186V |
SLR23_KIDNEY | 54949011 | 54950201 | 54949521 | 54949521 | Missense_Mutation | A | G | p.I186V |
COLO824_BREAST | 54949011 | 54950201 | 54949692 | 54949692 | Missense_Mutation | G | A | p.A243T |
NCIH322_LUNG | 54949011 | 54950201 | 54949759 | 54949759 | Missense_Mutation | C | T | p.A265V |
SNU81_LARGE_INTESTINE | 54949011 | 54950201 | 54949784 | 54949784 | Missense_Mutation | G | T | p.E273D |
NCIH838_LUNG | 54949011 | 54950201 | 54949870 | 54949870 | Missense_Mutation | G | T | p.G302V |
KYSE140_OESOPHAGUS | 54949011 | 54950201 | 54950088 | 54950088 | Missense_Mutation | G | C | p.V375L |
SNU175_LARGE_INTESTINE | 54949011 | 54950201 | 54950088 | 54950088 | Missense_Mutation | G | A | p.V375I |
NCIH1339_LUNG | 54949011 | 54950201 | 54950136 | 54950136 | Missense_Mutation | G | A | p.D391N |
KYSE150_OESOPHAGUS | 54949011 | 54950201 | 54950143 | 54950143 | Missense_Mutation | A | G | p.Y393C |
GIMEN_AUTONOMIC_GANGLIA | 54949011 | 54950201 | 54950165 | 54950165 | Missense_Mutation | G | T | p.E400D |
LC2AD_LUNG | 54949011 | 54950201 | 54950197 | 54950197 | Missense_Mutation | G | A | p.R411Q |
NEC8_TESTIS | 54953476 | 54953538 | 54953483 | 54953483 | Missense_Mutation | C | T | p.H570Y |
CL34_LARGE_INTESTINE | 54957174 | 54957464 | 54957205 | 54957205 | Missense_Mutation | G | A | p.E1350K |
TE11_OESOPHAGUS | 54957174 | 54957464 | 54957245 | 54957245 | Missense_Mutation | C | G | p.S1363C |
SKMEL30_SKIN | 54957174 | 54957464 | 54957326 | 54957326 | Missense_Mutation | C | T | p.P1390L |
M059J_CENTRAL_NERVOUS_SYSTEM | 54957174 | 54957464 | 54957443 | 54957443 | Missense_Mutation | C | T | p.S1429L |
MCC13_SKIN | 54949011 | 54950201 | 54949206 | 54949206 | Nonsense_Mutation | A | T | p.K81* |
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 54949011 | 54950201 | 54950196 | 54950196 | Nonsense_Mutation | C | T | p.R411* |
SEKI_SKIN | 54948651 | 54948724 | 54948722 | 54948723 | Splice_Site | CA | TT | p.Q15L |
SEKI_SKIN | 54948636 | 54948724 | 54948722 | 54948723 | Splice_Site | CA | TT | p.Q15L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TRO |
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 TRO |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TRO |
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RelatedDrugs for TRO |
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 TRO |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |