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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for SYTL3 |
 Gene summary |
| Gene information | Gene symbol | SYTL3 | Gene ID | 94120 |
| Gene name | synaptotagmin like 3 | |
| Synonyms | SLP3 | |
| Cytomap | 6q25.3 | |
| Type of gene | protein-coding | |
| Description | synaptotagmin-like protein 3exophilin-6 | |
| Modification date | 20180523 | |
| UniProtAcc | Q4VX76 | |
| Context | PubMed: SYTL3 [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 SYTL3 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 SYTL3 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for SYTL3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455086 | 6 | 159071084:159071110:159072784:159072874:159082300:159082401 | 159072784:159072874 | ENSG00000164674.11 | ENST00000469735.1 |
| exon_skip_455090 | 6 | 159083781:159083844:159084236:159084410:159086426:159086645 | 159084236:159084410 | ENSG00000164674.11 | ENST00000297239.9,ENST00000360448.3 |
| exon_skip_455091 | 6 | 159086426:159086645:159103956:159104021:159128261:159128313 | 159103956:159104021 | ENSG00000164674.11 | ENST00000297239.9,ENST00000360448.3 |
| exon_skip_455092 | 6 | 159103956:159104021:159128261:159128313:159129353:159129423 | 159128261:159128313 | ENSG00000164674.11 | ENST00000297239.9,ENST00000360448.3 |
| exon_skip_455102 | 6 | 159129353:159129423:159134831:159134910:159139118:159139243 | 159134831:159134910 | ENSG00000164674.11 | ENST00000297239.9 |
| exon_skip_455108 | 6 | 159134831:159134910:159139118:159139243:159146534:159146669 | 159139118:159139243 | ENSG00000164674.11 | ENST00000297239.9 |
| exon_skip_455110 | 6 | 159146537:159146669:159166511:159166690:159172959:159173062 | 159166511:159166690 | ENSG00000164674.11 | ENST00000297239.9,ENST00000360448.3 |
| exon_skip_455112 | 6 | 159172959:159173062:159178242:159178413:159181671:159181777 | 159178242:159178413 | ENSG00000164674.11 | ENST00000297239.9,ENST00000367081.3,ENST00000360448.3 |
| exon_skip_455113 | 6 | 159178242:159178413:159181671:159181777:159183107:159183210 | 159181671:159181777 | ENSG00000164674.11 | ENST00000297239.9,ENST00000367081.3,ENST00000360448.3 |
| exon_skip_455115 | 6 | 159181671:159181777:159183107:159183210:159184335:159184541 | 159183107:159183210 | ENSG00000164674.11 | ENST00000297239.9,ENST00000367081.3,ENST00000360448.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYTL3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_455086 | 6 | 159071084:159071110:159072784:159072874:159082300:159082401 | 159072784:159072874 | ENSG00000164674.11 | ENST00000469735.1 |
| exon_skip_455090 | 6 | 159083781:159083844:159084236:159084410:159086426:159086645 | 159084236:159084410 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9 |
| exon_skip_455091 | 6 | 159086426:159086645:159103956:159104021:159128261:159128313 | 159103956:159104021 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9 |
| exon_skip_455092 | 6 | 159103956:159104021:159128261:159128313:159129353:159129423 | 159128261:159128313 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9 |
| exon_skip_455102 | 6 | 159129353:159129423:159134831:159134910:159139118:159139243 | 159134831:159134910 | ENSG00000164674.11 | ENST00000297239.9 |
| exon_skip_455108 | 6 | 159134831:159134910:159139118:159139243:159146534:159146669 | 159139118:159139243 | ENSG00000164674.11 | ENST00000297239.9 |
| exon_skip_455110 | 6 | 159146537:159146669:159166511:159166690:159172959:159173062 | 159166511:159166690 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9 |
| exon_skip_455112 | 6 | 159172959:159173062:159178242:159178413:159181671:159181777 | 159178242:159178413 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9,ENST00000367081.3 |
| exon_skip_455113 | 6 | 159178242:159178413:159181671:159181777:159183107:159183210 | 159181671:159181777 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9,ENST00000367081.3 |
| exon_skip_455115 | 6 | 159181671:159181777:159183107:159183210:159184335:159184541 | 159183107:159183210 | ENSG00000164674.11 | ENST00000360448.3,ENST00000297239.9,ENST00000367081.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for SYTL3 |
| 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 |
| ENST00000297239 | 159084236 | 159084410 | 5CDS-5UTR |
| ENST00000360448 | 159084236 | 159084410 | 5CDS-5UTR |
| ENST00000297239 | 159103956 | 159104021 | Frame-shift |
| ENST00000360448 | 159103956 | 159104021 | Frame-shift |
| ENST00000297239 | 159128261 | 159128313 | Frame-shift |
| ENST00000360448 | 159128261 | 159128313 | Frame-shift |
| ENST00000297239 | 159134831 | 159134910 | Frame-shift |
| ENST00000297239 | 159139118 | 159139243 | Frame-shift |
| ENST00000297239 | 159166511 | 159166690 | Frame-shift |
| ENST00000360448 | 159166511 | 159166690 | Frame-shift |
| ENST00000297239 | 159181671 | 159181777 | Frame-shift |
| ENST00000360448 | 159181671 | 159181777 | Frame-shift |
| ENST00000297239 | 159183107 | 159183210 | Frame-shift |
| ENST00000360448 | 159183107 | 159183210 | Frame-shift |
| ENST00000297239 | 159178242 | 159178413 | In-frame |
| ENST00000360448 | 159178242 | 159178413 | 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 |
| ENST00000297239 | 159084236 | 159084410 | 5CDS-5UTR |
| ENST00000360448 | 159084236 | 159084410 | 5CDS-5UTR |
| ENST00000297239 | 159103956 | 159104021 | Frame-shift |
| ENST00000360448 | 159103956 | 159104021 | Frame-shift |
| ENST00000297239 | 159128261 | 159128313 | Frame-shift |
| ENST00000360448 | 159128261 | 159128313 | Frame-shift |
| ENST00000297239 | 159134831 | 159134910 | Frame-shift |
| ENST00000297239 | 159139118 | 159139243 | Frame-shift |
| ENST00000297239 | 159166511 | 159166690 | Frame-shift |
| ENST00000360448 | 159166511 | 159166690 | Frame-shift |
| ENST00000297239 | 159181671 | 159181777 | Frame-shift |
| ENST00000360448 | 159181671 | 159181777 | Frame-shift |
| ENST00000297239 | 159183107 | 159183210 | Frame-shift |
| ENST00000360448 | 159183107 | 159183210 | Frame-shift |
| ENST00000297239 | 159178242 | 159178413 | In-frame |
| ENST00000360448 | 159178242 | 159178413 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SYTL3 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000360448 | 2294 | 610 | 159178242 | 159178413 | 1317 | 1487 | 311 | 368 |
| ENST00000297239 | 2309 | 610 | 159178242 | 159178413 | 1332 | 1502 | 379 | 436 |
| 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 |
| ENST00000360448 | 2294 | 610 | 159178242 | 159178413 | 1317 | 1487 | 311 | 368 |
| ENST00000297239 | 2309 | 610 | 159178242 | 159178413 | 1332 | 1502 | 379 | 436 |
| 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 |
| Q4VX76 | 311 | 368 | 1 | 610 | Chain | ID=PRO_0000311116;Note=Synaptotagmin-like protein 3 |
| Q4VX76 | 311 | 368 | 308 | 412 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q4VX76 | 379 | 436 | 1 | 610 | Chain | ID=PRO_0000311116;Note=Synaptotagmin-like protein 3 |
| Q4VX76 | 379 | 436 | 308 | 412 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q4VX76 | 379 | 436 | 414 | 414 | Natural variant | ID=VAR_037137;Note=P->S;Dbxref=dbSNP:rs901363 |
| 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 |
| Q4VX76 | 311 | 368 | 1 | 610 | Chain | ID=PRO_0000311116;Note=Synaptotagmin-like protein 3 |
| Q4VX76 | 311 | 368 | 308 | 412 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q4VX76 | 379 | 436 | 1 | 610 | Chain | ID=PRO_0000311116;Note=Synaptotagmin-like protein 3 |
| Q4VX76 | 379 | 436 | 308 | 412 | Domain | Note=C2 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q4VX76 | 379 | 436 | 414 | 414 | Natural variant | ID=VAR_037137;Note=P->S;Dbxref=dbSNP:rs901363 |
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SNVs in the skipped exons for SYTL3 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - 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 |
| READ | TCGA-AG-A00Y-01 | exon_skip_455090 | 159084237 | 159084410 | 159084381 | 159084382 | Frame_Shift_Del | GG | - | p.27_28del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_455091 | 159103957 | 159104021 | 159103969 | 159103969 | Frame_Shift_Del | A | - | p.I114fs |
| LIHC | TCGA-DD-AACT-01 | exon_skip_455108 | 159139119 | 159139243 | 159139125 | 159139125 | Frame_Shift_Del | C | - | p.S201fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_455113 | 159181672 | 159181777 | 159181724 | 159181724 | Frame_Shift_Del | G | - | p.R454fs |
| STAD | TCGA-D7-A4YY-01 | exon_skip_455115 | 159183108 | 159183210 | 159183138 | 159183141 | Frame_Shift_Del | TTTG | - | p.L482fs |
| READ | TCGA-AG-A002-01 | exon_skip_455110 | 159166512 | 159166690 | 159166581 | 159166581 | Nonsense_Mutation | G | T | p.E309X |
| CHOL | TCGA-W5-AA2Q-01 | exon_skip_455091 | 159103957 | 159104021 | 159104022 | 159104022 | 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 |
| SHP77_LUNG | 159084237 | 159084410 | 159084389 | 159084390 | Frame_Shift_Del | AC | - | p.N30fs |
| NCIH716_LARGE_INTESTINE | 159084237 | 159084410 | 159084382 | 159084382 | Missense_Mutation | G | A | p.V28I |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 159103957 | 159104021 | 159103997 | 159103997 | Missense_Mutation | C | G | p.R124G |
| KYSE140_OESOPHAGUS | 159103957 | 159104021 | 159103997 | 159103997 | Missense_Mutation | C | G | p.R124G |
| SNGM_ENDOMETRIUM | 159103957 | 159104021 | 159103997 | 159103997 | Missense_Mutation | C | G | p.R124G |
| TE5_OESOPHAGUS | 159103957 | 159104021 | 159103997 | 159103997 | Missense_Mutation | C | G | p.R124G |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 159128262 | 159128313 | 159128270 | 159128270 | Missense_Mutation | G | A | p.E135K |
| BT474_BREAST | 159139119 | 159139243 | 159139199 | 159139199 | Missense_Mutation | G | C | p.E226Q |
| NCIH196_LUNG | 159139119 | 159139243 | 159139209 | 159139209 | Missense_Mutation | G | A | p.S229N |
| KYAE1_OESOPHAGUS | 159166512 | 159166690 | 159166546 | 159166546 | Missense_Mutation | A | T | p.E297V |
| TEN_ENDOMETRIUM | 159166512 | 159166690 | 159166548 | 159166548 | Missense_Mutation | A | G | p.M298V |
| KYAE1_OESOPHAGUS | 159166512 | 159166690 | 159166548 | 159166548 | Missense_Mutation | A | T | p.M298L |
| CCK81_LARGE_INTESTINE | 159166512 | 159166690 | 159166618 | 159166618 | Missense_Mutation | A | G | p.H321R |
| HS840T_FIBROBLAST | 159166512 | 159166690 | 159166632 | 159166632 | Missense_Mutation | T | C | p.C326R |
| EN_ENDOMETRIUM | 159166512 | 159166690 | 159166651 | 159166651 | Missense_Mutation | A | G | p.N332S |
| RPMI7951_SKIN | 159166512 | 159166690 | 159166663 | 159166663 | Missense_Mutation | G | A | p.G336E |
| HARA_LUNG | 159166512 | 159166690 | 159166684 | 159166684 | Missense_Mutation | G | A | p.C343Y |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 159178243 | 159178413 | 159178252 | 159178252 | Missense_Mutation | G | T | p.A383S |
| MORCPR_LUNG | 159178243 | 159178413 | 159178313 | 159178313 | Missense_Mutation | C | A | p.A403D |
| A204_SOFT_TISSUE | 159178243 | 159178413 | 159178315 | 159178315 | Missense_Mutation | C | T | p.R404W |
| TTC642_SOFT_TISSUE | 159178243 | 159178413 | 159178315 | 159178315 | Missense_Mutation | C | T | p.R404W |
| KMH2_THYROID | 159181672 | 159181777 | 159181704 | 159181704 | Missense_Mutation | T | G | p.S447R |
| PANC0813_PANCREAS | 159183108 | 159183210 | 159183163 | 159183163 | Missense_Mutation | G | T | p.K490N |
| NCIH1092_LUNG | 159183108 | 159183210 | 159183177 | 159183177 | Missense_Mutation | G | C | p.R495P |
| HCC1569_BREAST | 159128262 | 159128313 | 159128312 | 159128312 | Splice_Site | A | G | p.S149G |
| HCT15_LARGE_INTESTINE | 159178243 | 159178413 | 159178413 | 159178413 | Splice_Site | G | T | p.K436N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYTL3 |
| 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 SYTL3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYTL3 |
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RelatedDrugs for SYTL3 |
| 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 SYTL3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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