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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 SYT9 |
Gene summary |
Gene information | Gene symbol | SYT9 | Gene ID | 143425 |
Gene name | synaptotagmin 9 | |
Synonyms | - | |
Cytomap | 11p15.4 | |
Type of gene | protein-coding | |
Description | synaptotagmin-9synaptotagmin IXsytIX | |
Modification date | 20180523 | |
UniProtAcc | Q86SS6 | |
Context | PubMed: SYT9 [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 SYT9 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 SYT9 |
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 SYT9 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_56710 | 11 | 7273400:7273562:7324269:7324621:7334625:7335172 | 7324269:7324621 | ENSG00000170743.12 | ENST00000318881.6 |
exon_skip_56711 | 11 | 7324269:7324621:7334625:7335172:7437272:7437393 | 7334625:7335172 | ENSG00000170743.12 | ENST00000318881.6 |
exon_skip_56713 | 11 | 7439187:7439359:7441736:7441866:7488022:7490268 | 7441736:7441866 | ENSG00000170743.12 | ENST00000532592.1,ENST00000318881.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYT9 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_56710 | 11 | 7273400:7273562:7324269:7324621:7334625:7335172 | 7324269:7324621 | ENSG00000170743.12 | ENST00000318881.6 |
exon_skip_56711 | 11 | 7324269:7324621:7334625:7335172:7437272:7437393 | 7334625:7335172 | ENSG00000170743.12 | ENST00000318881.6 |
exon_skip_56713 | 11 | 7439187:7439359:7441736:7441866:7488022:7490268 | 7441736:7441866 | ENSG00000170743.12 | ENST00000318881.6,ENST00000532592.1 |
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 SYT9 |
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 |
ENST00000318881 | 7324269 | 7324621 | Frame-shift |
ENST00000318881 | 7334625 | 7335172 | Frame-shift |
ENST00000318881 | 7441736 | 7441866 | 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 |
ENST00000318881 | 7324269 | 7324621 | Frame-shift |
ENST00000318881 | 7334625 | 7335172 | Frame-shift |
ENST00000318881 | 7441736 | 7441866 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SYT9 |
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 SYT9 |
- 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_56711 | 7334626 | 7335172 | 7334688 | 7334688 | Frame_Shift_Del | A | - | p.Q187fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_56711 | 7334626 | 7335172 | 7334882 | 7334882 | Frame_Shift_Del | T | - | p.F252fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_56711 | 7334626 | 7335172 | 7334933 | 7334933 | Frame_Shift_Del | A | - | p.K269fs |
LUAD | TCGA-49-4488-01 | exon_skip_56713 | 7441737 | 7441866 | 7441837 | 7441837 | Frame_Shift_Del | C | - | p.P480fs |
PRAD | TCGA-ZG-A9MC-01 | exon_skip_56710 | 7324270 | 7324621 | 7324413 | 7324413 | Nonsense_Mutation | G | T | p.E97* |
SKCM | TCGA-ER-A19E-06 | exon_skip_56710 | 7324270 | 7324621 | 7324557 | 7324557 | Nonsense_Mutation | C | T | p.Q145* |
CHOL | TCGA-3X-AAVB-01 | exon_skip_56711 | 7334626 | 7335172 | 7334708 | 7334708 | Nonsense_Mutation | G | T | p.G194X |
LUAD | TCGA-49-6744-01 | exon_skip_56710 | 7324270 | 7324621 | 7324269 | 7324269 | Splice_Site | G | C | p.D49_splice |
COAD | TCGA-AA-3510-01 | exon_skip_56710 | 7324270 | 7324621 | 7324622 | 7324622 | Splice_Site | G | 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 |
KYSE150_OESOPHAGUS | 7324270 | 7324621 | 7324317 | 7324317 | Missense_Mutation | G | T | p.A65S |
NCIH187_LUNG | 7324270 | 7324621 | 7324333 | 7324333 | Missense_Mutation | C | T | p.S70F |
MEWO_SKIN | 7324270 | 7324621 | 7324464 | 7324464 | Missense_Mutation | G | A | p.D114N |
WM88_SKIN | 7324270 | 7324621 | 7324551 | 7324551 | Missense_Mutation | G | A | p.G143R |
HEC151_ENDOMETRIUM | 7324270 | 7324621 | 7324581 | 7324581 | Missense_Mutation | C | T | p.R153C |
CROAP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7324270 | 7324621 | 7324581 | 7324581 | Missense_Mutation | C | T | p.R153C |
RERFLCFM_LUNG | 7334626 | 7335172 | 7334792 | 7334793 | Missense_Mutation | GG | TT | p.G222L |
G402_SOFT_TISSUE | 7334626 | 7335172 | 7334826 | 7334826 | Missense_Mutation | A | T | p.D233V |
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7334626 | 7335172 | 7334873 | 7334873 | Missense_Mutation | G | A | p.A249T |
GP5D_LARGE_INTESTINE | 7334626 | 7335172 | 7334915 | 7334915 | Missense_Mutation | T | C | p.Y263H |
HUTU80_SMALL_INTESTINE | 7334626 | 7335172 | 7334916 | 7334916 | Missense_Mutation | A | G | p.Y263C |
COLO741_SKIN | 7334626 | 7335172 | 7334930 | 7334930 | Missense_Mutation | C | T | p.R268W |
ISTSL2_LUNG | 7334626 | 7335172 | 7334931 | 7334931 | Missense_Mutation | G | A | p.R268Q |
NCIBL1395_MATCHED_NORMAL_TISSUE | 7334626 | 7335172 | 7335011 | 7335011 | Missense_Mutation | T | C | p.Y295H |
NCIH1395_LUNG | 7334626 | 7335172 | 7335011 | 7335011 | Missense_Mutation | T | C | p.Y295H |
CAL27_UPPER_AERODIGESTIVE_TRACT | 7334626 | 7335172 | 7335053 | 7335053 | Missense_Mutation | G | A | p.D309N |
CAL51_BREAST | 7334626 | 7335172 | 7335062 | 7335062 | Missense_Mutation | A | G | p.R312G |
FTC133_THYROID | 7334626 | 7335172 | 7335087 | 7335087 | Missense_Mutation | G | A | p.G320D |
SNU349_KIDNEY | 7334626 | 7335172 | 7335122 | 7335122 | Missense_Mutation | G | A | p.D332N |
CORL32_LUNG | 7334626 | 7335172 | 7335129 | 7335129 | Missense_Mutation | C | A | p.P334H |
LN18_CENTRAL_NERVOUS_SYSTEM | 7441737 | 7441866 | 7441744 | 7441744 | Missense_Mutation | C | A | p.H449N |
MCC13_SKIN | 7441737 | 7441866 | 7441780 | 7441780 | Missense_Mutation | G | A | p.E461K |
NCIH1975_LUNG | 7441737 | 7441866 | 7441858 | 7441858 | Missense_Mutation | C | A | p.L487M |
NCIH196_LUNG | 7441737 | 7441866 | 7441861 | 7441861 | Missense_Mutation | G | T | p.V488L |
SNU81_LARGE_INTESTINE | 7324270 | 7324621 | 7324374 | 7324374 | Nonsense_Mutation | G | T | p.E84* |
NCIH1755_LUNG | 7324270 | 7324621 | 7324615 | 7324615 | Nonsense_Mutation | C | A | p.S164* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYT9 |
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 SYT9 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYT9 |
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RelatedDrugs for SYT9 |
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 SYT9 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |