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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 SIDT1 |
Gene summary |
Gene information | Gene symbol | SIDT1 | Gene ID | 54847 |
Gene name | SID1 transmembrane family member 1 | |
Synonyms | SID-1|SID1 | |
Cytomap | 3q13.2 | |
Type of gene | protein-coding | |
Description | SID1 transmembrane family member 1 | |
Modification date | 20180329 | |
UniProtAcc | Q9NXL6 | |
Context | PubMed: SIDT1 [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 SIDT1 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 SIDT1 |
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 SIDT1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_376706 | 3 | 113252023:113252090:113285266:113285388:113286386:113286557 | 113285266:113285388 | ENSG00000072858.6 | ENST00000483946.1,ENST00000393830.3,ENST00000491730.1 |
exon_skip_376713 | 3 | 113286386:113286557:113295768:113295814:113299454:113299556 | 113295768:113295814 | ENSG00000072858.6 | ENST00000393830.3,ENST00000264852.4,ENST00000491730.1 |
exon_skip_376722 | 3 | 113299454:113299556:113300207:113300291:113302255:113302343 | 113300207:113300291 | ENSG00000072858.6 | ENST00000393830.3,ENST00000264852.4 |
exon_skip_376724 | 3 | 113304023:113304117:113311851:113311895:113320434:113320506 | 113311851:113311895 | ENSG00000072858.6 | ENST00000488390.1,ENST00000393830.3,ENST00000264852.4 |
exon_skip_376726 | 3 | 113323756:113323823:113325887:113325961:113326940:113326970 | 113325887:113325961 | ENSG00000072858.6 | ENST00000393830.3,ENST00000264852.4 |
exon_skip_376727 | 3 | 113326940:113327064:113327265:113327383:113329854:113329991 | 113327265:113327383 | ENSG00000072858.6 | ENST00000463226.1,ENST00000393830.3,ENST00000264852.4 |
exon_skip_376728 | 3 | 113327265:113327383:113329854:113329991:113330932:113331041 | 113329854:113329991 | ENSG00000072858.6 | ENST00000463226.1,ENST00000393830.3,ENST00000264852.4 |
exon_skip_376730 | 3 | 113330932:113331041:113331227:113331239:113334943:113335023 | 113331227:113331239 | ENSG00000072858.6 | ENST00000393830.3 |
exon_skip_376731 | 3 | 113330932:113331041:113333909:113333924:113334943:113335023 | 113333909:113333924 | ENSG00000072858.6 | ENST00000463226.1 |
exon_skip_376733 | 3 | 113342469:113342580:113344948:113345062:113346492:113346688 | 113344948:113345062 | ENSG00000072858.6 | ENST00000463226.1,ENST00000393830.3,ENST00000264852.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIDT1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_376706 | 3 | 113252023:113252090:113285266:113285388:113286386:113286557 | 113285266:113285388 | ENSG00000072858.6 | ENST00000393830.3,ENST00000491730.1,ENST00000483946.1 |
exon_skip_376713 | 3 | 113286386:113286557:113295768:113295814:113299454:113299556 | 113295768:113295814 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3,ENST00000491730.1 |
exon_skip_376722 | 3 | 113299454:113299556:113300207:113300291:113302255:113302343 | 113300207:113300291 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3 |
exon_skip_376724 | 3 | 113304023:113304117:113311851:113311895:113320434:113320506 | 113311851:113311895 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3,ENST00000488390.1 |
exon_skip_376726 | 3 | 113323756:113323823:113325887:113325961:113326940:113326970 | 113325887:113325961 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3 |
exon_skip_376727 | 3 | 113326940:113327064:113327265:113327383:113329854:113329991 | 113327265:113327383 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3,ENST00000463226.1 |
exon_skip_376728 | 3 | 113327265:113327383:113329854:113329991:113330932:113331041 | 113329854:113329991 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3,ENST00000463226.1 |
exon_skip_376730 | 3 | 113330932:113331041:113331227:113331239:113334943:113335023 | 113331227:113331239 | ENSG00000072858.6 | ENST00000393830.3 |
exon_skip_376731 | 3 | 113330932:113331041:113333909:113333924:113334943:113335023 | 113333909:113333924 | ENSG00000072858.6 | ENST00000463226.1 |
exon_skip_376733 | 3 | 113342469:113342580:113344948:113345062:113346492:113346688 | 113344948:113345062 | ENSG00000072858.6 | ENST00000264852.4,ENST00000393830.3,ENST00000463226.1 |
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 SIDT1 |
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 |
ENST00000264852 | 113295768 | 113295814 | Frame-shift |
ENST00000264852 | 113311851 | 113311895 | Frame-shift |
ENST00000264852 | 113325887 | 113325961 | Frame-shift |
ENST00000264852 | 113327265 | 113327383 | Frame-shift |
ENST00000264852 | 113329854 | 113329991 | Frame-shift |
ENST00000264852 | 113300207 | 113300291 | In-frame |
ENST00000264852 | 113344948 | 113345062 | 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 |
ENST00000264852 | 113295768 | 113295814 | Frame-shift |
ENST00000264852 | 113311851 | 113311895 | Frame-shift |
ENST00000264852 | 113325887 | 113325961 | Frame-shift |
ENST00000264852 | 113327265 | 113327383 | Frame-shift |
ENST00000264852 | 113329854 | 113329991 | Frame-shift |
ENST00000264852 | 113300207 | 113300291 | In-frame |
ENST00000264852 | 113344948 | 113345062 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIDT1 |
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 |
ENST00000264852 | 5097 | 827 | 113300207 | 113300291 | 1390 | 1473 | 221 | 249 |
ENST00000264852 | 5097 | 827 | 113344948 | 113345062 | 3034 | 3147 | 769 | 807 |
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 |
ENST00000264852 | 5097 | 827 | 113300207 | 113300291 | 1390 | 1473 | 221 | 249 |
ENST00000264852 | 5097 | 827 | 113344948 | 113345062 | 3034 | 3147 | 769 | 807 |
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 |
Q9NXL6 | 221 | 249 | 20 | 827 | Chain | ID=PRO_0000032575;Note=SID1 transmembrane family member 1 |
Q9NXL6 | 221 | 249 | 20 | 309 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NXL6 | 769 | 807 | 20 | 827 | Chain | ID=PRO_0000032575;Note=SID1 transmembrane family member 1 |
Q9NXL6 | 769 | 807 | 763 | 791 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NXL6 | 769 | 807 | 792 | 812 | 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 |
Q9NXL6 | 221 | 249 | 20 | 827 | Chain | ID=PRO_0000032575;Note=SID1 transmembrane family member 1 |
Q9NXL6 | 221 | 249 | 20 | 309 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NXL6 | 769 | 807 | 20 | 827 | Chain | ID=PRO_0000032575;Note=SID1 transmembrane family member 1 |
Q9NXL6 | 769 | 807 | 763 | 791 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Q9NXL6 | 769 | 807 | 792 | 812 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SIDT1 |
- 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-A1EG-01 | exon_skip_376727 | 113327266 | 113327383 | 113327329 | 113327329 | Frame_Shift_Del | G | - | p.G556fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_376728 | 113329855 | 113329991 | 113329930 | 113329930 | Frame_Shift_Del | C | - | p.A599fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_376733 | 113344949 | 113345062 | 113345048 | 113345048 | Frame_Shift_Del | T | - | p.F804fs |
UCEC | TCGA-BS-A0V6-01 | exon_skip_376733 | 113344949 | 113345062 | 113344982 | 113344982 | Nonsense_Mutation | G | T | p.E786* |
COAD | TCGA-A6-5665-01 | exon_skip_376728 | 113329855 | 113329991 | 113329854 | 113329854 | Splice_Site | G | A | . |
LUSC | TCGA-46-3769-01 | exon_skip_376728 | 113329855 | 113329991 | 113329854 | 113329854 | Splice_Site | G | C | p.D574_splice |
LUSC | TCGA-22-4593-01 | exon_skip_376728 | 113329855 | 113329991 | 113329993 | 113329993 | Splice_Site | T | C | p.V619_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 |
HCC2998_LARGE_INTESTINE | 113285267 | 113285388 | 113285307 | 113285307 | Missense_Mutation | A | C | p.N88T |
KYSE140_OESOPHAGUS | 113329855 | 113329991 | 113329930 | 113329930 | Missense_Mutation | C | A | p.A599D |
HS746T_STOMACH | 113344949 | 113345062 | 113344982 | 113344982 | Missense_Mutation | G | A | p.E781K |
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113344949 | 113345062 | 113345006 | 113345006 | Missense_Mutation | G | A | p.D789N |
NCIH889_LUNG | 113344949 | 113345062 | 113345006 | 113345006 | Missense_Mutation | G | A | p.D789N |
NB69_AUTONOMIC_GANGLIA | 113344949 | 113345062 | 113345006 | 113345006 | Missense_Mutation | G | A | p.D789N |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113344949 | 113345062 | 113345016 | 113345016 | Missense_Mutation | A | C | p.D792A |
CAL27_UPPER_AERODIGESTIVE_TRACT | 113327266 | 113327383 | 113327383 | 113327383 | Splice_Site | G | A | p.D574N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIDT1 |
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 SIDT1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIDT1 |
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RelatedDrugs for SIDT1 |
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 SIDT1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |