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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 SAGE1 |
Gene summary |
Gene information | Gene symbol | SAGE1 | Gene ID | 55511 |
Gene name | sarcoma antigen 1 | |
Synonyms | CT14|SAGE | |
Cytomap | Xq26.3 | |
Type of gene | protein-coding | |
Description | sarcoma antigen 1cancer/testis antigen 14putative tumor antigen | |
Modification date | 20180523 | |
UniProtAcc | Q9NXZ1 | |
Context | PubMed: SAGE1 [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 SAGE1 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 SAGE1 |
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 SAGE1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_512482 | X | 134983717:134983850:134986635:134986728:134987410:134987551 | 134986635:134986728 | ENSG00000181433.5 | ENST00000370709.3,ENST00000324447.3,ENST00000535938.1,ENST00000537770.1 |
exon_skip_512486 | X | 134989471:134989612:134989859:134990000:134990247:134990388 | 134989859:134990000 | ENSG00000181433.5 | ENST00000370709.3,ENST00000324447.3,ENST00000535938.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SAGE1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_512482 | X | 134983717:134983850:134986635:134986728:134987410:134987551 | 134986635:134986728 | ENSG00000181433.5 | ENST00000324447.3,ENST00000535938.1,ENST00000537770.1,ENST00000370709.3 |
exon_skip_512486 | X | 134989471:134989612:134989859:134990000:134990247:134990388 | 134989859:134990000 | ENSG00000181433.5 | ENST00000324447.3,ENST00000535938.1,ENST00000370709.3 |
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 SAGE1 |
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 |
ENST00000324447 | 134986635 | 134986728 | In-frame |
ENST00000370709 | 134986635 | 134986728 | In-frame |
ENST00000324447 | 134989859 | 134990000 | In-frame |
ENST00000370709 | 134989859 | 134990000 | 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 |
ENST00000324447 | 134986635 | 134986728 | In-frame |
ENST00000370709 | 134986635 | 134986728 | In-frame |
ENST00000324447 | 134989859 | 134990000 | In-frame |
ENST00000370709 | 134989859 | 134990000 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SAGE1 |
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 |
ENST00000324447 | 2897 | 904 | 134986635 | 134986728 | 267 | 359 | 73 | 104 |
ENST00000370709 | 2896 | 904 | 134986635 | 134986728 | 221 | 313 | 73 | 104 |
ENST00000324447 | 2897 | 904 | 134989859 | 134990000 | 1065 | 1205 | 339 | 386 |
ENST00000370709 | 2896 | 904 | 134989859 | 134990000 | 1019 | 1159 | 339 | 386 |
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 |
ENST00000324447 | 2897 | 904 | 134986635 | 134986728 | 267 | 359 | 73 | 104 |
ENST00000370709 | 2896 | 904 | 134986635 | 134986728 | 221 | 313 | 73 | 104 |
ENST00000324447 | 2897 | 904 | 134989859 | 134990000 | 1065 | 1205 | 339 | 386 |
ENST00000370709 | 2896 | 904 | 134989859 | 134990000 | 1019 | 1159 | 339 | 386 |
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 |
Q9NXZ1 | 73 | 104 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 73 | 104 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 339 | 386 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 339 | 386 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
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 |
Q9NXZ1 | 73 | 104 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 73 | 104 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 339 | 386 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
Q9NXZ1 | 339 | 386 | 1 | 904 | Chain | ID=PRO_0000286971;Note=Sarcoma antigen 1 |
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SNVs in the skipped exons for SAGE1 |
- 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 |
LUSC | TCGA-18-5592-01 | exon_skip_512486 | 134989860 | 134990000 | 134989943 | 134989943 | Frame_Shift_Del | C | - | p.P368fs |
- 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 |
S117_SOFT_TISSUE | 134986636 | 134986728 | 134986661 | 134986661 | Missense_Mutation | T | G | p.C82W |
SNU1_STOMACH | 134989860 | 134990000 | 134989863 | 134989863 | Missense_Mutation | C | T | p.A341V |
NCIH1092_LUNG | 134989860 | 134990000 | 134989913 | 134989913 | Missense_Mutation | C | A | p.L358I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SAGE1 |
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 SAGE1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SAGE1 |
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RelatedDrugs for SAGE1 |
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 SAGE1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |