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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 ELP3 |
Gene summary |
Gene information | Gene symbol | ELP3 | Gene ID | 55140 |
Gene name | elongator acetyltransferase complex subunit 3 | |
Synonyms | KAT9 | |
Cytomap | 8p21.1 | |
Type of gene | protein-coding | |
Description | elongator complex protein 3elongation protein 3 homolog | |
Modification date | 20180523 | |
UniProtAcc | Q9H9T3 | |
Context | PubMed: ELP3 [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 |
ELP3 | GO:0006357 | regulation of transcription by RNA polymerase II | 11818576 |
ELP3 | GO:0043966 | histone H3 acetylation | 11714725 |
ELP3 | GO:0043967 | histone H4 acetylation | 11714725 |
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Exon skipping events across known transcript of Ensembl for ELP3 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 ELP3 |
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 ELP3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482456 | 8 | 27947747:27947849:27954735:27954835:27957344:27957483 | 27954735:27954835 | ENSG00000134014.12 | ENST00000521015.1 |
exon_skip_482457 | 8 | 27947862:27947920:27954735:27954835:27957344:27957483 | 27954735:27954835 | ENSG00000134014.12 | ENST00000521570.1 |
exon_skip_482459 | 8 | 27950701:27950750:27954735:27954835:27957344:27957483 | 27954735:27954835 | ENSG00000134014.12 | ENST00000256398.8,ENST00000521938.1,ENST00000523760.1 |
exon_skip_482461 | 8 | 27954735:27954835:27957344:27957483:27964229:27964300 | 27957344:27957483 | ENSG00000134014.12 | ENST00000521570.1,ENST00000256398.8,ENST00000521099.1,ENST00000520288.1,ENST00000520270.1,ENST00000521938.1,ENST00000521015.1,ENST00000523760.1 |
exon_skip_482462 | 8 | 27964229:27964300:27965429:27965493:27967886:27967939 | 27965429:27965493 | ENSG00000134014.12 | ENST00000521570.1,ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000524103.1,ENST00000520288.1,ENST00000522063.1,ENST00000521938.1,ENST00000521015.1,ENST00000523760.1 |
exon_skip_482463 | 8 | 27965429:27965493:27967886:27967955:27970535:27970690 | 27967886:27967955 | ENSG00000134014.12 | ENST00000521570.1,ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000524103.1,ENST00000521015.1,ENST00000523760.1 |
exon_skip_482464 | 8 | 27967886:27967955:27970535:27970690:27987018:27987180 | 27970535:27970690 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482467 | 8 | 27987018:27987180:27989794:27989921:27995214:27995408 | 27989794:27989921 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000520110.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482469 | 8 | 27989794:27989921:27995214:27995408:28013458:28013549 | 27995214:27995408 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000520110.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482472 | 8 | 27995214:27995408:28013458:28013549:28016084:28016142 | 28013458:28013549 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000520110.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482476 | 8 | 28016114:28016150:28017745:28017973:28019513:28019595 | 28017745:28017973 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000523357.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482477 | 8 | 28017745:28017973:28019513:28019595:28047165:28047489 | 28019513:28019595 | ENSG00000134014.12 | ENST00000380353.4,ENST00000256398.8,ENST00000518112.1,ENST00000542181.1,ENST00000537665.1,ENST00000523687.1,ENST00000524103.1,ENST00000519261.1,ENST00000521015.1 |
exon_skip_482478 | 8 | 28019537:28019595:28040710:28040781:28047165:28047489 | 28040710:28040781 | ENSG00000134014.12 | ENST00000523357.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ELP3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_482456 | 8 | 27947747:27947849:27954735:27954835:27957344:27957483 | 27954735:27954835 | ENSG00000134014.12 | ENST00000521015.1 |
exon_skip_482459 | 8 | 27950701:27950750:27954735:27954835:27957344:27957483 | 27954735:27954835 | ENSG00000134014.12 | ENST00000256398.8,ENST00000523760.1,ENST00000521938.1 |
exon_skip_482461 | 8 | 27954735:27954835:27957344:27957483:27964229:27964300 | 27957344:27957483 | ENSG00000134014.12 | ENST00000520270.1,ENST00000521015.1,ENST00000521570.1,ENST00000256398.8,ENST00000523760.1,ENST00000521938.1,ENST00000520288.1,ENST00000521099.1 |
exon_skip_482462 | 8 | 27964229:27964300:27965429:27965493:27967886:27967939 | 27965429:27965493 | ENSG00000134014.12 | ENST00000521015.1,ENST00000521570.1,ENST00000256398.8,ENST00000523760.1,ENST00000524103.1,ENST00000518112.1,ENST00000521938.1,ENST00000380353.4,ENST00000520288.1,ENST00000522063.1 |
exon_skip_482463 | 8 | 27965429:27965493:27967886:27967955:27970535:27970690 | 27967886:27967955 | ENSG00000134014.12 | ENST00000521015.1,ENST00000521570.1,ENST00000256398.8,ENST00000523760.1,ENST00000524103.1,ENST00000518112.1,ENST00000380353.4 |
exon_skip_482464 | 8 | 27967886:27967955:27970535:27970690:27987018:27987180 | 27970535:27970690 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4 |
exon_skip_482467 | 8 | 27987018:27987180:27989794:27989921:27995214:27995408 | 27989794:27989921 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4,ENST00000520110.1 |
exon_skip_482469 | 8 | 27989794:27989921:27995214:27995408:28013458:28013549 | 27995214:27995408 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4,ENST00000520110.1 |
exon_skip_482472 | 8 | 27995214:27995408:28013458:28013549:28016084:28016142 | 28013458:28013549 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4,ENST00000520110.1 |
exon_skip_482476 | 8 | 28016114:28016150:28017745:28017973:28019513:28019595 | 28017745:28017973 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4,ENST00000523357.1 |
exon_skip_482477 | 8 | 28017745:28017973:28019513:28019595:28047165:28047489 | 28019513:28019595 | ENSG00000134014.12 | ENST00000521015.1,ENST00000256398.8,ENST00000523687.1,ENST00000542181.1,ENST00000524103.1,ENST00000518112.1,ENST00000519261.1,ENST00000537665.1,ENST00000380353.4 |
exon_skip_482478 | 8 | 28019537:28019595:28040710:28040781:28047165:28047489 | 28040710:28040781 | ENSG00000134014.12 | ENST00000523357.1 |
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 ELP3 |
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 |
ENST00000256398 | 27954735 | 27954835 | Frame-shift |
ENST00000256398 | 27957344 | 27957483 | Frame-shift |
ENST00000256398 | 27965429 | 27965493 | Frame-shift |
ENST00000256398 | 27970535 | 27970690 | Frame-shift |
ENST00000256398 | 27989794 | 27989921 | Frame-shift |
ENST00000256398 | 27995214 | 27995408 | Frame-shift |
ENST00000256398 | 28013458 | 28013549 | Frame-shift |
ENST00000256398 | 28019513 | 28019595 | Frame-shift |
ENST00000256398 | 27967886 | 27967955 | In-frame |
ENST00000256398 | 28017745 | 28017973 | 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 |
ENST00000256398 | 27954735 | 27954835 | Frame-shift |
ENST00000256398 | 27957344 | 27957483 | Frame-shift |
ENST00000256398 | 27965429 | 27965493 | Frame-shift |
ENST00000256398 | 27970535 | 27970690 | Frame-shift |
ENST00000256398 | 27989794 | 27989921 | Frame-shift |
ENST00000256398 | 27995214 | 27995408 | Frame-shift |
ENST00000256398 | 28013458 | 28013549 | Frame-shift |
ENST00000256398 | 28019513 | 28019595 | Frame-shift |
ENST00000256398 | 27967886 | 27967955 | In-frame |
ENST00000256398 | 28017745 | 28017973 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELP3 |
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 |
ENST00000256398 | 3469 | 547 | 27967886 | 27967955 | 771 | 839 | 131 | 154 |
ENST00000256398 | 3469 | 547 | 28017745 | 28017973 | 1635 | 1862 | 419 | 495 |
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 |
ENST00000256398 | 3469 | 547 | 27967886 | 27967955 | 771 | 839 | 131 | 154 |
ENST00000256398 | 3469 | 547 | 28017745 | 28017973 | 1635 | 1862 | 419 | 495 |
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 |
Q9H9T3 | 131 | 154 | 13 | 131 | Alternative sequence | ID=VSP_055286;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9H9T3 | 131 | 154 | 1 | 547 | Chain | ID=PRO_0000283986;Note=Elongator complex protein 3 |
Q9H9T3 | 419 | 495 | 1 | 547 | Chain | ID=PRO_0000283986;Note=Elongator complex protein 3 |
Q9H9T3 | 419 | 495 | 396 | 547 | Domain | Note=N-acetyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00532 |
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 |
Q9H9T3 | 131 | 154 | 13 | 131 | Alternative sequence | ID=VSP_055286;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9H9T3 | 131 | 154 | 1 | 547 | Chain | ID=PRO_0000283986;Note=Elongator complex protein 3 |
Q9H9T3 | 419 | 495 | 1 | 547 | Chain | ID=PRO_0000283986;Note=Elongator complex protein 3 |
Q9H9T3 | 419 | 495 | 396 | 547 | Domain | Note=N-acetyltransferase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00532 |
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SNVs in the skipped exons for ELP3 |
- 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 |
COAD | TCGA-AZ-6598-01 | exon_skip_482467 | 27989795 | 27989921 | 27989921 | 27989924 | Frame_Shift_Del | AGTA | - | p.302_302del |
BRCA | TCGA-E2-A109-01 | exon_skip_482469 | 27995215 | 27995408 | 27995267 | 27995267 | Frame_Shift_Del | C | - | p.L321fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_482469 | 27995215 | 27995408 | 27995291 | 27995291 | Frame_Shift_Del | T | - | p.L328fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_482476 | 28017746 | 28017973 | 28017825 | 28017825 | Frame_Shift_Del | T | - | p.I446fs |
STAD | TCGA-BR-7197-01 | exon_skip_482463 | 27967887 | 27967955 | 27967927 | 27967928 | Frame_Shift_Ins | - | CCTA | p.F145fs |
STAD | TCGA-BR-7197-01 | exon_skip_482463 | 27967887 | 27967955 | 27967928 | 27967929 | Frame_Shift_Ins | - | CCTA | p.F145fs |
UCEC | TCGA-BS-A0UF-01 | exon_skip_482464 | 27970536 | 27970690 | 27970611 | 27970611 | Nonsense_Mutation | G | T | p.E180* |
UCEC | TCGA-AP-A056-01 | exon_skip_482464 | 27970536 | 27970690 | 27970632 | 27970632 | Nonsense_Mutation | C | T | p.R187* |
UCEC | TCGA-AX-A05Z-01 | exon_skip_482464 | 27970536 | 27970690 | 27970632 | 27970632 | Nonsense_Mutation | C | T | p.R187* |
LIHC | TCGA-XR-A8TF-01 | exon_skip_482461 | 27957345 | 27957483 | 27957343 | 27957343 | Splice_Site | A | T | . |
STAD | TCGA-F1-A448-01 | exon_skip_482469 | 27995215 | 27995408 | 27995410 | 27995410 | Splice_Site | T | C | p.R367_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
SNU1040_LARGE_INTESTINE | 27957345 | 27957483 | 27957392 | 27957392 | Missense_Mutation | G | A | p.R56H |
NCIH2291_LUNG | 27957345 | 27957483 | 27957427 | 27957427 | Missense_Mutation | T | G | p.Y68D |
SNU1040_LARGE_INTESTINE | 27957345 | 27957483 | 27957431 | 27957431 | Missense_Mutation | G | A | p.R69H |
HCC515_LUNG | 27965430 | 27965493 | 27965441 | 27965441 | Missense_Mutation | G | A | p.G114D |
GP2D_LARGE_INTESTINE | 27970536 | 27970690 | 27970584 | 27970584 | Missense_Mutation | G | A | p.G171S |
GP5D_LARGE_INTESTINE | 27970536 | 27970690 | 27970584 | 27970584 | Missense_Mutation | G | A | p.G171S |
D336MG_CENTRAL_NERVOUS_SYSTEM | 27970536 | 27970690 | 27970638 | 27970638 | Missense_Mutation | T | A | p.L189I |
TT_OESOPHAGUS | 27989795 | 27989921 | 27989848 | 27989848 | Missense_Mutation | G | C | p.G278A |
HEC1A_ENDOMETRIUM | 27989795 | 27989921 | 27989874 | 27989874 | Missense_Mutation | C | T | p.P287S |
HEC1_ENDOMETRIUM | 27989795 | 27989921 | 27989874 | 27989874 | Missense_Mutation | C | T | p.P287S |
HEC1B_ENDOMETRIUM | 27989795 | 27989921 | 27989874 | 27989874 | Missense_Mutation | C | T | p.P287S |
MET2B | 27995215 | 27995408 | 27995239 | 27995239 | Missense_Mutation | C | T | p.R311C |
MM370_SKIN | 27995215 | 27995408 | 27995309 | 27995309 | Missense_Mutation | C | T | p.S334L |
TT2609C02_THYROID | 27995215 | 27995408 | 27995390 | 27995390 | Missense_Mutation | G | A | p.R361Q |
SNU520_STOMACH | 28017746 | 28017973 | 28017803 | 28017803 | Missense_Mutation | T | C | p.Y439H |
HUH7_LIVER | 28019514 | 28019595 | 28019541 | 28019541 | Missense_Mutation | G | A | p.A505T |
OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28019514 | 28019595 | 28019553 | 28019553 | Missense_Mutation | G | C | p.A509P |
MEWO_SKIN | 28019514 | 28019595 | 28019559 | 28019559 | Missense_Mutation | G | A | p.E511K |
UMC11_LUNG | 27965430 | 27965493 | 27965436 | 27965436 | Nonsense_Mutation | C | A | p.C112* |
JHUEM7_ENDOMETRIUM | 27989795 | 27989921 | 27989910 | 27989910 | Nonsense_Mutation | G | T | p.E299* |
HPAFII_PANCREAS | 27995215 | 27995408 | 27995254 | 27995254 | Nonsense_Mutation | A | T | p.K316* |
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27995215 | 27995408 | 27995398 | 27995398 | Nonsense_Mutation | C | T | p.R364* |
LNCAPCLONEFGC_PROSTATE | 28017746 | 28017973 | 28017842 | 28017842 | Nonsense_Mutation | C | T | p.R452* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ELP3 |
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 ELP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ELP3 |
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RelatedDrugs for ELP3 |
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 ELP3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |