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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 ENPP3 |
 Gene summary |
| Gene information | Gene symbol | ENPP3 | Gene ID | 5169 |
| Gene name | ectonucleotide pyrophosphatase/phosphodiesterase 3 | |
| Synonyms | B10|CD203c|NPP3|PD-IBETA|PDNP3 | |
| Cytomap | 6q23.2 | |
| Type of gene | protein-coding | |
| Description | ectonucleotide pyrophosphatase/phosphodiesterase family member 3dJ1005H11.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)dJ914N13.3 (phosphodiesterase I/nucleotide pyrophosphatase 3)gp130RB13-6phosphodiesterase I/nucleotide pyrophosphatase 3phos | |
| Modification date | 20180519 | |
| UniProtAcc | O14638 | |
| Context | PubMed: ENPP3 [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 |
| ENPP3 | GO:0006796 | phosphate-containing compound metabolic process | 10513816 |
| ENPP3 | GO:0009143 | nucleoside triphosphate catabolic process | 10513816 |
| ENPP3 | GO:0030505 | inorganic diphosphate transport | 10513816 |
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Exon skipping events across known transcript of Ensembl for ENPP3 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 ENPP3 |
| 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 ENPP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454212 | 6 | 131958524:131958602:131959586:131959716:131962594:131962670 | 131959586:131959716 | ENSG00000154269.10 | ENST00000423831.1 |
| exon_skip_454213 | 6 | 131958524:131958602:131959590:131959716:131962594:131962670 | 131959590:131959716 | ENSG00000154269.10 | ENST00000427707.1,ENST00000427148.2 |
| exon_skip_454215 | 6 | 131958524:131958602:131959750:131959894:131962594:131962670 | 131959750:131959894 | ENSG00000154269.10 | ENST00000543135.1 |
| exon_skip_454216 | 6 | 131958524:131958602:131962594:131962670:131971166:131971247 | 131962594:131962670 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454218 | 6 | 131962594:131962670:131971166:131971289:131973681:131973791 | 131971166:131971289 | ENSG00000154269.10 | ENST00000423831.1,ENST00000414305.1,ENST00000543135.1,ENST00000470930.1,ENST00000357639.3,ENST00000427707.1,ENST00000358229.5,ENST00000427148.2 |
| exon_skip_454221 | 6 | 131971166:131971289:131973681:131973807:131979462:131979560 | 131973681:131973807 | ENSG00000154269.10 | ENST00000470930.1 |
| exon_skip_454223 | 6 | 131973681:131973807:131973970:131974031:131979462:131979560 | 131973970:131974031 | ENSG00000154269.10 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000427707.1,ENST00000358229.5,ENST00000427148.2 |
| exon_skip_454224 | 6 | 131973996:131974031:131979462:131979560:131992387:131992467 | 131979462:131979560 | ENSG00000154269.10 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000427707.1,ENST00000358229.5,ENST00000494023.1,ENST00000427148.2 |
| exon_skip_454225 | 6 | 131992387:131992467:131995301:131995421:131996219:131996329 | 131995301:131995421 | ENSG00000154269.10 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000358229.5,ENST00000494023.1 |
| exon_skip_454227 | 6 | 131992387:131992467:131995301:131995550:131996219:131996329 | 131995301:131995550 | ENSG00000154269.10 | ENST00000427707.1,ENST00000427148.2 |
| exon_skip_454229 | 6 | 131995301:131995421:131996219:131996329:131997875:131997937 | 131996219:131996329 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454231 | 6 | 131997875:131997941:131999007:131999080:132004193:132004244 | 131999007:131999080 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5,ENST00000427148.2 |
| exon_skip_454232 | 6 | 132006503:132006635:132007015:132007047:132014636:132014764 | 132007015:132007047 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454238 | 6 | 132047185:132047340:132054727:132054863:132058494:132058572 | 132054727:132054863 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3 |
| exon_skip_454254 | 6 | 132059170:132059303:132061363:132061520:132067925:132068096 | 132061363:132061520 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ENPP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_454212 | 6 | 131958524:131958602:131959586:131959716:131962594:131962670 | 131959586:131959716 | ENSG00000154269.10 | ENST00000423831.1 |
| exon_skip_454213 | 6 | 131958524:131958602:131959590:131959716:131962594:131962670 | 131959590:131959716 | ENSG00000154269.10 | ENST00000427707.1,ENST00000427148.2 |
| exon_skip_454215 | 6 | 131958524:131958602:131959750:131959894:131962594:131962670 | 131959750:131959894 | ENSG00000154269.10 | ENST00000543135.1 |
| exon_skip_454216 | 6 | 131958524:131958602:131962594:131962670:131971166:131971247 | 131962594:131962670 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454224 | 6 | 131973996:131974031:131979462:131979560:131992387:131992467 | 131979462:131979560 | ENSG00000154269.10 | ENST00000427707.1,ENST00000414305.1,ENST00000357639.3,ENST00000543135.1,ENST00000427148.2,ENST00000358229.5,ENST00000494023.1 |
| exon_skip_454229 | 6 | 131995301:131995421:131996219:131996329:131997875:131997937 | 131996219:131996329 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454231 | 6 | 131997875:131997941:131999007:131999080:132004193:132004244 | 131999007:131999080 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000427148.2,ENST00000358229.5 |
| exon_skip_454232 | 6 | 132006503:132006635:132007015:132007047:132014636:132014764 | 132007015:132007047 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| exon_skip_454238 | 6 | 132047185:132047340:132054727:132054863:132058494:132058572 | 132054727:132054863 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3 |
| exon_skip_454254 | 6 | 132059170:132059303:132061363:132061520:132067925:132068096 | 132061363:132061520 | ENSG00000154269.10 | ENST00000414305.1,ENST00000357639.3,ENST00000358229.5 |
| 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 ENPP3 |
| 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 |
| ENST00000357639 | 131962594 | 131962670 | Frame-shift |
| ENST00000414305 | 131962594 | 131962670 | Frame-shift |
| ENST00000357639 | 131973970 | 131974031 | Frame-shift |
| ENST00000414305 | 131973970 | 131974031 | Frame-shift |
| ENST00000357639 | 131979462 | 131979560 | Frame-shift |
| ENST00000414305 | 131979462 | 131979560 | Frame-shift |
| ENST00000357639 | 131996219 | 131996329 | Frame-shift |
| ENST00000414305 | 131996219 | 131996329 | Frame-shift |
| ENST00000357639 | 131999007 | 131999080 | Frame-shift |
| ENST00000414305 | 131999007 | 131999080 | Frame-shift |
| ENST00000357639 | 132007015 | 132007047 | Frame-shift |
| ENST00000414305 | 132007015 | 132007047 | Frame-shift |
| ENST00000357639 | 132054727 | 132054863 | Frame-shift |
| ENST00000414305 | 132054727 | 132054863 | Frame-shift |
| ENST00000357639 | 132061363 | 132061520 | Frame-shift |
| ENST00000414305 | 132061363 | 132061520 | Frame-shift |
| ENST00000357639 | 131971166 | 131971289 | In-frame |
| ENST00000414305 | 131971166 | 131971289 | In-frame |
| ENST00000357639 | 131995301 | 131995421 | In-frame |
| ENST00000414305 | 131995301 | 131995421 | 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 |
| ENST00000357639 | 131962594 | 131962670 | Frame-shift |
| ENST00000414305 | 131962594 | 131962670 | Frame-shift |
| ENST00000357639 | 131979462 | 131979560 | Frame-shift |
| ENST00000414305 | 131979462 | 131979560 | Frame-shift |
| ENST00000357639 | 131996219 | 131996329 | Frame-shift |
| ENST00000414305 | 131996219 | 131996329 | Frame-shift |
| ENST00000357639 | 131999007 | 131999080 | Frame-shift |
| ENST00000414305 | 131999007 | 131999080 | Frame-shift |
| ENST00000357639 | 132007015 | 132007047 | Frame-shift |
| ENST00000414305 | 132007015 | 132007047 | Frame-shift |
| ENST00000357639 | 132054727 | 132054863 | Frame-shift |
| ENST00000414305 | 132054727 | 132054863 | Frame-shift |
| ENST00000357639 | 132061363 | 132061520 | Frame-shift |
| ENST00000414305 | 132061363 | 132061520 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ENPP3 |
| 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 |
| ENST00000357639 | 3171 | 875 | 131971166 | 131971289 | 238 | 360 | 51 | 92 |
| ENST00000414305 | 3430 | 875 | 131971166 | 131971289 | 483 | 605 | 51 | 92 |
| ENST00000357639 | 3171 | 875 | 131995301 | 131995421 | 726 | 845 | 214 | 254 |
| ENST00000414305 | 3430 | 875 | 131995301 | 131995421 | 971 | 1090 | 214 | 254 |
| 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 |
| O14638 | 51 | 92 | 1 | 875 | Chain | ID=PRO_0000188570;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 |
| O14638 | 51 | 92 | 1 | 875 | Chain | ID=PRO_0000188570;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 |
| O14638 | 51 | 92 | 54 | 71 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 54 | 71 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 58 | 89 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 58 | 89 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 69 | 82 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 69 | 82 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 75 | 81 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 75 | 81 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 51 | 92 | 50 | 93 | Domain | Note=SMB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 |
| O14638 | 51 | 92 | 50 | 93 | Domain | Note=SMB 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00350 |
| O14638 | 51 | 92 | 66 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 66 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 75 | 78 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 75 | 78 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 85 | 89 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 85 | 89 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 91 | 93 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 91 | 93 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 51 | 92 | 78 | 80 | Motif | Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 51 | 92 | 78 | 80 | Motif | Note=Cell attachment site;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 51 | 92 | 31 | 875 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 51 | 92 | 31 | 875 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 214 | 254 | 225 | 230 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 225 | 230 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 235 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 235 | 237 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 226 | 226 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:6C02,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 226 | 226 | Binding site | Note=Substrate;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:6C02,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 1 | 875 | Chain | ID=PRO_0000188570;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 |
| O14638 | 214 | 254 | 1 | 875 | Chain | ID=PRO_0000188570;Note=Ectonucleotide pyrophosphatase/phosphodiesterase family member 3 |
| O14638 | 214 | 254 | 152 | 364 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 152 | 364 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000255,ECO:0000269;evidence=ECO:0000244|PDB:6C01,ECO:0000244|PDB:6C02,ECO:0000255|PROSITE-ProRule:PRU00350,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 236 | 236 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:6C02,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 236 | 236 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:6C02,ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 205 | 214 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 205 | 214 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 218 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 218 | 221 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 242 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 242 | 245 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 247 | 249 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 247 | 249 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 227 | 227 | Mutagenesis | Note=No effect on affinity for nucleotides and enzyme activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 227 | 227 | Mutagenesis | Note=No effect on affinity for nucleotides and enzyme activity. N->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29717535;Dbxref=PMID:29717535 |
| O14638 | 214 | 254 | 140 | 510 | Region | Note=Phosphodiesterase |
| O14638 | 214 | 254 | 140 | 510 | Region | Note=Phosphodiesterase |
| O14638 | 214 | 254 | 31 | 875 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 214 | 254 | 31 | 875 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O14638 | 214 | 254 | 231 | 234 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| O14638 | 214 | 254 | 231 | 234 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:6C02 |
| 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 ENPP3 |
| - 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. |
ENPP3_COAD_exon_skip_454254_psi_boxplot.png |
ENPP3_LUAD_exon_skip_454254_psi_boxplot.png |
| - 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-G3-A3CJ-01 | exon_skip_454218 | 131971167 | 131971289 | 131971264 | 131971264 | Frame_Shift_Del | T | - | p.D84fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454221 | 131973682 | 131973807 | 131973737 | 131973737 | Frame_Shift_Del | C | - | p.S111fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454225 | 131995302 | 131995421 | 131995352 | 131995352 | Frame_Shift_Del | A | - | p.V231fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_454227 | 131995302 | 131995550 | 131995352 | 131995352 | Frame_Shift_Del | A | - | p.V231fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_454225 | 131995302 | 131995421 | 131995367 | 131995367 | Frame_Shift_Del | T | - | p.N236fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_454227 | 131995302 | 131995550 | 131995367 | 131995367 | Frame_Shift_Del | T | - | p.N236fs |
| COAD | TCGA-AD-6964-01 | exon_skip_454229 | 131996220 | 131996329 | 131996291 | 131996291 | Frame_Shift_Del | A | - | p.I278fs |
| STAD | TCGA-BR-8382-01 | exon_skip_454238 | 132054728 | 132054863 | 132054763 | 132054766 | Frame_Shift_Del | CTGT | - | p.663_664del |
| STAD | TCGA-BR-8382-01 | exon_skip_454238 | 132054728 | 132054863 | 132054763 | 132054766 | Frame_Shift_Del | CTGT | - | p.D663fs |
| LUAD | TCGA-55-5899-01 | exon_skip_454254 | 132061364 | 132061520 | 132061443 | 132061444 | Frame_Shift_Del | CC | - | p.P794fs |
| SKCM | TCGA-GN-A266-06 | exon_skip_454221 | 131973682 | 131973807 | 131973691 | 131973691 | Nonsense_Mutation | G | A | p.W96* |
| SKCM | TCGA-GN-A266-06 | exon_skip_454221 | 131973682 | 131973807 | 131973691 | 131973691 | Nonsense_Mutation | G | A | p.W96X |
| BLCA | TCGA-5N-A9KM-01 | exon_skip_454224 | 131979463 | 131979560 | 131979528 | 131979528 | Nonsense_Mutation | G | A | p.W177* |
| THYM | TCGA-ZB-A96E-01 | exon_skip_454225 | 131995302 | 131995421 | 131995314 | 131995314 | Nonsense_Mutation | G | T | p.E219X |
| THYM | TCGA-ZB-A96E-01 | exon_skip_454227 | 131995302 | 131995550 | 131995314 | 131995314 | Nonsense_Mutation | G | T | p.E219X |
| OV | TCGA-04-1362-01 | exon_skip_454225 | 131995302 | 131995421 | 131995408 | 131995408 | Nonsense_Mutation | G | A | p.W250* |
| OV | TCGA-04-1362-01 | exon_skip_454227 | 131995302 | 131995550 | 131995408 | 131995408 | Nonsense_Mutation | G | A | p.W250* |
| BLCA | TCGA-KQ-A41N-01 | exon_skip_454227 | 131995302 | 131995550 | 131995467 | 131995467 | Nonsense_Mutation | C | T | p.Q236* |
| COAD | TCGA-AA-3713-01 | exon_skip_454254 | 132061364 | 132061520 | 132061425 | 132061425 | Nonsense_Mutation | A | - | p.C787X |
| ESCA | TCGA-2H-A9GM-01 | exon_skip_454221 | 131973682 | 131973807 | 131973681 | 131973681 | Splice_Site | G | T | . |
| ESCA | TCGA-2H-A9GM-01 | exon_skip_454221 | 131973682 | 131973807 | 131973681 | 131973681 | Splice_Site | G | T | e4-1 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_454254 | 132061364 | 132061520 | 132061522 | 132061522 | Splice_Site | T | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-55-5899-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_454254 | |
| Skipped exon start: 132061364 | |
| Skipped exon end: 132061520 | |
| Mutation start: 132061443 | |
| Mutation end: 132061444 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CC | |
| Mutation seq: - | |
| AAchange: p.P794fs | |
exon_skip_432620_LUAD_TCGA-55-5899-01.png | |
exon_skip_454254_LUAD_TCGA-55-5899-01.png | |
exon_skip_80395_LUAD_TCGA-55-5899-01.png | |
| - 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 |
| PK59_PANCREAS | 131962595 | 131962670 | 131962605 | 131962605 | Missense_Mutation | C | T | p.A30V |
| HEC251_ENDOMETRIUM | 131971167 | 131971289 | 131971206 | 131971206 | Missense_Mutation | G | A | p.G65E |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131971167 | 131971289 | 131971248 | 131971248 | Missense_Mutation | G | A | p.G79D |
| NBSUSSR_AUTONOMIC_GANGLIA | 131971167 | 131971289 | 131971274 | 131971274 | Missense_Mutation | A | C | p.T88P |
| CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131971167 | 131971289 | 131971278 | 131971278 | Missense_Mutation | G | A | p.C89Y |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131973682 | 131973807 | 131973709 | 131973709 | Missense_Mutation | G | A | p.R102H |
| SNU878_LIVER | 131973971 | 131974031 | 131973973 | 131973973 | Missense_Mutation | G | A | p.E136K |
| MCC26_SKIN | 131973971 | 131974031 | 131973983 | 131973983 | Missense_Mutation | G | C | p.W139S |
| NCIH1915_LUNG | 131979463 | 131979560 | 131979470 | 131979470 | Missense_Mutation | C | A | p.L158M |
| HCT15_LARGE_INTESTINE | 131995302 | 131995421 | 131995338 | 131995338 | Missense_Mutation | A | G | p.N227D |
| HCT15_LARGE_INTESTINE | 131995302 | 131995550 | 131995338 | 131995338 | Missense_Mutation | A | G | p.N227D |
| DMS153_LUNG | 131995302 | 131995421 | 131995357 | 131995357 | Missense_Mutation | T | C | p.L233P |
| DMS153_LUNG | 131995302 | 131995550 | 131995357 | 131995357 | Missense_Mutation | T | C | p.L233P |
| KU1919_URINARY_TRACT | 131995302 | 131995421 | 131995378 | 131995378 | Missense_Mutation | C | A | p.S240Y |
| KU1919_URINARY_TRACT | 131995302 | 131995550 | 131995378 | 131995378 | Missense_Mutation | C | A | p.S240Y |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995421 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995550 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995421 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995550 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995421 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131995302 | 131995550 | 131995412 | 131995412 | Missense_Mutation | T | A | p.H251Q |
| MCC13_SKIN | 131995302 | 131995421 | 131995413 | 131995413 | Missense_Mutation | G | A | p.G252R |
| MCC13_SKIN | 131995302 | 131995550 | 131995413 | 131995413 | Missense_Mutation | G | A | p.G252R |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131996220 | 131996329 | 131996263 | 131996263 | Missense_Mutation | A | G | p.Y269C |
| M14_SKIN | 131999008 | 131999080 | 131999046 | 131999046 | Missense_Mutation | C | T | p.S326F |
| HEC108_ENDOMETRIUM | 131999008 | 131999080 | 131999057 | 131999057 | Missense_Mutation | G | A | p.A330T |
| PANC1_PANCREAS | 132054728 | 132054863 | 132054759 | 132054759 | Missense_Mutation | C | A | p.P662Q |
| MM426_SKIN | 132054728 | 132054863 | 132054788 | 132054788 | Missense_Mutation | C | T | p.P672S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 132054728 | 132054863 | 132054788 | 132054788 | Missense_Mutation | C | G | p.P672A |
| SF268_CENTRAL_NERVOUS_SYSTEM | 132054728 | 132054863 | 132054849 | 132054849 | Missense_Mutation | T | A | p.F692Y |
| BICR56_UPPER_AERODIGESTIVE_TRACT | 132061364 | 132061520 | 132061413 | 132061413 | Missense_Mutation | C | A | p.L784M |
| TUHR10TKB_KIDNEY | 132061364 | 132061520 | 132061430 | 132061430 | Missense_Mutation | C | G | p.N789K |
| OVK18_OVARY | 132061364 | 132061520 | 132061480 | 132061480 | Missense_Mutation | T | C | p.F806S |
| CAL851_BREAST | 131973971 | 131974031 | 131973984 | 131973984 | Nonsense_Mutation | G | A | p.W139* |
| IGR1_SKIN | 132061364 | 132061520 | 132061494 | 132061494 | Nonsense_Mutation | C | T | p.R811* |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 131962595 | 131962670 | 131962596 | 131962596 | Splice_Site | T | C | p.V27A |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 132061364 | 132061520 | 132061365 | 132061365 | Splice_Site | C | T | p.H768Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ENPP3 |
| 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 |
| exon_skip_454225 | 6 | 131992387:131992467:131995301:131995421:131996219:131996329 | 131995301:131995421 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000358229.5,ENST00000494023.1 | KIRC | rs9493048 | chr6:131995313 | A/G | 8.02e-12 |
| exon_skip_454225 | 6 | 131992387:131992467:131995301:131995421:131996219:131996329 | 131995301:131995421 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000358229.5,ENST00000494023.1 | KIRC | rs9493048 | chr6:131995313 | A/G | 5.68e-06 |
| exon_skip_454225 | 6 | 131992387:131992467:131995301:131995421:131996219:131996329 | 131995301:131995421 | ENST00000414305.1,ENST00000543135.1,ENST00000357639.3,ENST00000358229.5,ENST00000494023.1 | KIRC | rs9493048 | chr6:131995313 | A/G | 1.24e-04 |
| exon_skip_454227 | 6 | 131992387:131992467:131995301:131995550:131996219:131996329 | 131995301:131995550 | ENST00000427707.1,ENST00000427148.2 | KIRC | rs9493048 | chr6:131995313 | A/G | 8.02e-12 |
| exon_skip_454227 | 6 | 131992387:131992467:131995301:131995550:131996219:131996329 | 131995301:131995550 | ENST00000427707.1,ENST00000427148.2 | KIRC | rs9493048 | chr6:131995313 | A/G | 5.68e-06 |
| exon_skip_454227 | 6 | 131992387:131992467:131995301:131995550:131996219:131996329 | 131995301:131995550 | ENST00000427707.1,ENST00000427148.2 | KIRC | rs9493048 | chr6:131995313 | A/G | 1.24e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENPP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ENPP3 |
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RelatedDrugs for ENPP3 |
| 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 ENPP3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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