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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 EXOC6 |
Gene summary |
Gene information | Gene symbol | EXOC6 | Gene ID | 54536 |
Gene name | exocyst complex component 6 | |
Synonyms | EXOC6A|SEC15|SEC15L|SEC15L1|SEC15L3|Sec15p | |
Cytomap | 10q23.33 | |
Type of gene | protein-coding | |
Description | exocyst complex component 6SEC15-like 1SEC15-like protein 3exocyst complex component Sec15Arsec15-like protein | |
Modification date | 20180523 | |
UniProtAcc | Q8TAG9 | |
Context | PubMed: EXOC6 [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 EXOC6 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 EXOC6 |
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 EXOC6 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_43881 | 10 | 94653105:94653277:94654550:94654598:94654686:94654777 | 94654550:94654598 | ENSG00000138190.12 | ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4,ENST00000371543.1 |
exon_skip_43882 | 10 | 94654686:94654777:94659355:94659401:94669183:94669388 | 94659355:94659401 | ENSG00000138190.12 | ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43883 | 10 | 94659355:94659401:94669183:94669388:94675514:94675670 | 94669183:94669388 | ENSG00000138190.12 | ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43884 | 10 | 94669240:94669388:94675514:94675670:94679738:94679807 | 94675514:94675670 | ENSG00000138190.12 | ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43885 | 10 | 94669240:94669388:94675514:94675670:94688095:94688179 | 94675514:94675670 | ENSG00000138190.12 | ENST00000443748.2 |
exon_skip_43889 | 10 | 94675514:94675670:94679738:94679807:94688095:94688179 | 94679738:94679807 | ENSG00000138190.12 | ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43891 | 10 | 94688130:94688179:94693900:94693947:94694066:94694187 | 94693900:94693947 | ENSG00000138190.12 | ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43896 | 10 | 94693900:94693947:94694066:94694187:94695570:94695642 | 94694066:94694187 | ENSG00000138190.12 | ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43897 | 10 | 94694066:94694187:94695570:94695642:94700483:94700581 | 94695570:94695642 | ENSG00000138190.12 | ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43898 | 10 | 94695570:94695642:94700483:94700581:94708030:94708136 | 94700483:94700581 | ENSG00000138190.12 | ENST00000495132.1,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43899 | 10 | 94715336:94715471:94733809:94733989:94757230:94757372 | 94733809:94733989 | ENSG00000138190.12 | ENST00000495132.1,ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43901 | 10 | 94733809:94733989:94757230:94757372:94773950:94774024 | 94757230:94757372 | ENSG00000138190.12 | ENST00000443748.2,ENST00000260762.6,ENST00000371552.4,ENST00000371547.4 |
exon_skip_43904 | 10 | 94757230:94757372:94759006:94759144:94773950:94774024 | 94759006:94759144 | ENSG00000138190.12 | ENST00000495132.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EXOC6 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_43881 | 10 | 94653105:94653277:94654550:94654598:94654686:94654777 | 94654550:94654598 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000371543.1,ENST00000443748.2,ENST00000260762.6 |
exon_skip_43882 | 10 | 94654686:94654777:94659355:94659401:94669183:94669388 | 94659355:94659401 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6 |
exon_skip_43883 | 10 | 94659355:94659401:94669183:94669388:94675514:94675670 | 94669183:94669388 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6 |
exon_skip_43884 | 10 | 94669240:94669388:94675514:94675670:94679738:94679807 | 94675514:94675670 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6 |
exon_skip_43885 | 10 | 94669240:94669388:94675514:94675670:94688095:94688179 | 94675514:94675670 | ENSG00000138190.12 | ENST00000443748.2 |
exon_skip_43889 | 10 | 94675514:94675670:94679738:94679807:94688095:94688179 | 94679738:94679807 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6 |
exon_skip_43891 | 10 | 94688130:94688179:94693900:94693947:94694066:94694187 | 94693900:94693947 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1 |
exon_skip_43896 | 10 | 94693900:94693947:94694066:94694187:94695570:94695642 | 94694066:94694187 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1 |
exon_skip_43897 | 10 | 94694066:94694187:94695570:94695642:94700483:94700581 | 94695570:94695642 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1 |
exon_skip_43898 | 10 | 94695570:94695642:94700483:94700581:94708030:94708136 | 94700483:94700581 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000260762.6,ENST00000495132.1 |
exon_skip_43899 | 10 | 94715336:94715471:94733809:94733989:94757230:94757372 | 94733809:94733989 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6,ENST00000495132.1 |
exon_skip_43901 | 10 | 94733809:94733989:94757230:94757372:94773950:94774024 | 94757230:94757372 | ENSG00000138190.12 | ENST00000371547.4,ENST00000371552.4,ENST00000443748.2,ENST00000260762.6 |
exon_skip_43904 | 10 | 94757230:94757372:94759006:94759144:94773950:94774024 | 94759006:94759144 | ENSG00000138190.12 | ENST00000495132.1 |
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 EXOC6 |
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 |
ENST00000260762 | 94659355 | 94659401 | Frame-shift |
ENST00000260762 | 94669183 | 94669388 | Frame-shift |
ENST00000260762 | 94693900 | 94693947 | Frame-shift |
ENST00000260762 | 94694066 | 94694187 | Frame-shift |
ENST00000260762 | 94700483 | 94700581 | Frame-shift |
ENST00000260762 | 94757230 | 94757372 | Frame-shift |
ENST00000260762 | 94654550 | 94654598 | In-frame |
ENST00000260762 | 94675514 | 94675670 | In-frame |
ENST00000260762 | 94679738 | 94679807 | In-frame |
ENST00000260762 | 94695570 | 94695642 | In-frame |
ENST00000260762 | 94733809 | 94733989 | 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 |
ENST00000260762 | 94659355 | 94659401 | Frame-shift |
ENST00000260762 | 94669183 | 94669388 | Frame-shift |
ENST00000260762 | 94693900 | 94693947 | Frame-shift |
ENST00000260762 | 94694066 | 94694187 | Frame-shift |
ENST00000260762 | 94700483 | 94700581 | Frame-shift |
ENST00000260762 | 94757230 | 94757372 | Frame-shift |
ENST00000260762 | 94654550 | 94654598 | In-frame |
ENST00000260762 | 94675514 | 94675670 | In-frame |
ENST00000260762 | 94679738 | 94679807 | In-frame |
ENST00000260762 | 94695570 | 94695642 | In-frame |
ENST00000260762 | 94733809 | 94733989 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EXOC6 |
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 |
ENST00000260762 | 3581 | 804 | 94654550 | 94654598 | 288 | 335 | 91 | 107 |
ENST00000260762 | 3581 | 804 | 94675514 | 94675670 | 678 | 833 | 221 | 273 |
ENST00000260762 | 3581 | 804 | 94679738 | 94679807 | 834 | 902 | 273 | 296 |
ENST00000260762 | 3581 | 804 | 94695570 | 94695642 | 1155 | 1226 | 380 | 404 |
ENST00000260762 | 3581 | 804 | 94733809 | 94733989 | 1788 | 1967 | 591 | 651 |
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 |
ENST00000260762 | 3581 | 804 | 94654550 | 94654598 | 288 | 335 | 91 | 107 |
ENST00000260762 | 3581 | 804 | 94675514 | 94675670 | 678 | 833 | 221 | 273 |
ENST00000260762 | 3581 | 804 | 94679738 | 94679807 | 834 | 902 | 273 | 296 |
ENST00000260762 | 3581 | 804 | 94695570 | 94695642 | 1155 | 1226 | 380 | 404 |
ENST00000260762 | 3581 | 804 | 94733809 | 94733989 | 1788 | 1967 | 591 | 651 |
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 |
Q8TAG9 | 91 | 107 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 221 | 273 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 273 | 296 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 380 | 404 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 380 | 404 | 396 | 396 | Natural variant | ID=VAR_044522;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1326331,PMID:15489334 |
Q8TAG9 | 591 | 651 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
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 |
Q8TAG9 | 91 | 107 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 221 | 273 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 273 | 296 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 380 | 404 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
Q8TAG9 | 380 | 404 | 396 | 396 | Natural variant | ID=VAR_044522;Note=T->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1326331,PMID:15489334 |
Q8TAG9 | 591 | 651 | 1 | 804 | Chain | ID=PRO_0000118951;Note=Exocyst complex component 6 |
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SNVs in the skipped exons for EXOC6 |
- 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_43901 | 94757231 | 94757372 | 94757329 | 94757329 | Frame_Shift_Del | G | - | p.M679fs |
LIHC | TCGA-BC-A112-01 | exon_skip_43883 | 94669184 | 94669388 | 94669378 | 94669379 | Frame_Shift_Ins | - | A | p.D213fs |
COAD | TCGA-CK-5913-01 | exon_skip_43881 | 94654551 | 94654598 | 94654572 | 94654572 | Nonsense_Mutation | C | T | p.R94X |
CESC | TCGA-EK-A2PG-01 | exon_skip_43885 exon_skip_43884 | 94675515 | 94675670 | 94675656 | 94675656 | Nonsense_Mutation | G | T | p.E285* |
STAD | TCGA-BR-4257-01 | exon_skip_43899 | 94733810 | 94733989 | 94733809 | 94733809 | Splice_Site | G | T | . |
STAD | TCGA-BR-4257-01 | exon_skip_43899 | 94733810 | 94733989 | 94733809 | 94733809 | Splice_Site | G | T | p.D592_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 |
HEC59_ENDOMETRIUM | 94669184 | 94669388 | 94669199 | 94669199 | Frame_Shift_Del | A | - | p.L158fs |
HCC1569_BREAST | 94669184 | 94669388 | 94669199 | 94669199 | Frame_Shift_Del | A | - | p.L158fs |
SALE_LUNG | 94733810 | 94733989 | 94733965 | 94733969 | Frame_Shift_Del | CTTTC | - | p.FQ644fs |
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94659356 | 94659401 | 94659391 | 94659391 | Missense_Mutation | A | C | p.S150R |
JHOS4_OVARY | 94669184 | 94669388 | 94669188 | 94669188 | Missense_Mutation | T | C | p.Y155H |
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94669184 | 94669388 | 94669290 | 94669290 | Missense_Mutation | C | T | p.R189C |
HOP92_LUNG | 94669184 | 94669388 | 94669377 | 94669377 | Missense_Mutation | G | A | p.A218T |
TE617T_SOFT_TISSUE | 94675515 | 94675670 | 94675581 | 94675581 | Missense_Mutation | A | G | p.M244V |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94675515 | 94675670 | 94675592 | 94675592 | Missense_Mutation | T | A | p.N247K |
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94675515 | 94675670 | 94675626 | 94675626 | Missense_Mutation | G | A | p.V259I |
A427_LUNG | 94675515 | 94675670 | 94675630 | 94675630 | Missense_Mutation | T | G | p.L260W |
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94693901 | 94693947 | 94693928 | 94693928 | Missense_Mutation | T | C | p.Y334H |
LCLC103H_LUNG | 94694067 | 94694187 | 94694108 | 94694108 | Missense_Mutation | G | A | p.G354E |
NCIH1838_LUNG | 94694067 | 94694187 | 94694148 | 94694148 | Missense_Mutation | G | T | p.M367I |
SNU175_LARGE_INTESTINE | 94694067 | 94694187 | 94694149 | 94694149 | Missense_Mutation | G | A | p.A368T |
HS606T_FIBROBLAST | 94695571 | 94695642 | 94695629 | 94695629 | Missense_Mutation | C | T | p.A400V |
SHP77_LUNG | 94733810 | 94733989 | 94733938 | 94733938 | Missense_Mutation | G | A | p.M634I |
SNU1040_LARGE_INTESTINE | 94757231 | 94757372 | 94757276 | 94757276 | Missense_Mutation | T | C | p.S667P |
RKO_LARGE_INTESTINE | 94757231 | 94757372 | 94757328 | 94757328 | Missense_Mutation | T | C | p.M684T |
NCIH250_LUNG | 94757231 | 94757372 | 94757340 | 94757340 | Missense_Mutation | A | T | p.Q688L |
CW2_LARGE_INTESTINE | 94757231 | 94757372 | 94757349 | 94757349 | Missense_Mutation | A | G | p.N691S |
JHUEM7_ENDOMETRIUM | 94757231 | 94757372 | 94757354 | 94757354 | Missense_Mutation | G | T | p.D693Y |
JHUEM7_ENDOMETRIUM | 94669184 | 94669388 | 94669305 | 94669305 | Nonsense_Mutation | G | T | p.E194* |
RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 94700484 | 94700581 | 94700505 | 94700505 | Nonsense_Mutation | C | T | p.R412* |
PACADD188_PANCREAS | 94659356 | 94659401 | 94659401 | 94659401 | Splice_Site | G | A | p.R153K |
LNCAPCLONEFGC_PROSTATE | 94733810 | 94733989 | 94733988 | 94733988 | Splice_Site | C | A | p.P651H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EXOC6 |
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 EXOC6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EXOC6 |
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RelatedDrugs for EXOC6 |
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 EXOC6 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |