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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 NXPE3 |
 Gene summary |
| Gene information | Gene symbol | NXPE3 | Gene ID | 91775 |
| Gene name | neurexophilin and PC-esterase domain family member 3 | |
| Synonyms | FAM55C|MST115|MSTP115 | |
| Cytomap | 3q12.3 | |
| Type of gene | protein-coding | |
| Description | NXPE family member 3family with sequence similarity 55, member C | |
| Modification date | 20180519 | |
| UniProtAcc | Q969Y0 | |
| Context | PubMed: NXPE3 [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 NXPE3 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 NXPE3 |
| 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 NXPE3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376375 | 3 | 101498089:101498168:101498577:101498778:101500953:101501133 | 101498577:101498778 | ENSG00000144815.10 | ENST00000474165.1 |
| exon_skip_376377 | 3 | 101501503:101501624:101504245:101504533:101520078:101520144 | 101504245:101504533 | ENSG00000144815.10 | ENST00000474165.1,ENST00000477909.1,ENST00000273347.5,ENST00000491511.2 |
| exon_skip_376382 | 3 | 101504245:101504533:101520078:101520833:101525896:101525970 | 101520078:101520833 | ENSG00000144815.10 | ENST00000477909.1,ENST00000273347.5,ENST00000491511.2,ENST00000422132.1 |
| exon_skip_376392 | 3 | 101520078:101520833:101525896:101525970:101535638:101535845 | 101525896:101525970 | ENSG00000144815.10 | ENST00000477909.1,ENST00000273347.5,ENST00000491511.2,ENST00000422132.1 |
| exon_skip_376395 | 3 | 101525896:101525970:101535638:101535845:101540247:101541667 | 101535638:101535845 | ENSG00000144815.10 | ENST00000477909.1,ENST00000273347.5,ENST00000491511.2,ENST00000422132.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NXPE3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376375 | 3 | 101498089:101498168:101498577:101498778:101500953:101501133 | 101498577:101498778 | ENSG00000144815.10 | ENST00000474165.1 |
| exon_skip_376377 | 3 | 101501503:101501624:101504245:101504533:101520078:101520144 | 101504245:101504533 | ENSG00000144815.10 | ENST00000273347.5,ENST00000474165.1,ENST00000491511.2,ENST00000477909.1 |
| exon_skip_376382 | 3 | 101504245:101504533:101520078:101520833:101525896:101525970 | 101520078:101520833 | ENSG00000144815.10 | ENST00000273347.5,ENST00000491511.2,ENST00000477909.1,ENST00000422132.1 |
| exon_skip_376392 | 3 | 101520078:101520833:101525896:101525970:101535638:101535845 | 101525896:101525970 | ENSG00000144815.10 | ENST00000273347.5,ENST00000491511.2,ENST00000477909.1,ENST00000422132.1 |
| exon_skip_376395 | 3 | 101525896:101525970:101535638:101535845:101540247:101541667 | 101535638:101535845 | ENSG00000144815.10 | ENST00000273347.5,ENST00000491511.2,ENST00000477909.1,ENST00000422132.1 |
| 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 NXPE3 |
| 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 |
| ENST00000273347 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000477909 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000491511 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000273347 | 101520078 | 101520833 | Frame-shift |
| ENST00000477909 | 101520078 | 101520833 | Frame-shift |
| ENST00000491511 | 101520078 | 101520833 | Frame-shift |
| ENST00000273347 | 101525896 | 101525970 | Frame-shift |
| ENST00000477909 | 101525896 | 101525970 | Frame-shift |
| ENST00000491511 | 101525896 | 101525970 | Frame-shift |
| ENST00000273347 | 101535638 | 101535845 | In-frame |
| ENST00000477909 | 101535638 | 101535845 | In-frame |
| ENST00000491511 | 101535638 | 101535845 | 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 |
| ENST00000273347 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000477909 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000491511 | 101504245 | 101504533 | 5CDS-5UTR |
| ENST00000273347 | 101520078 | 101520833 | Frame-shift |
| ENST00000477909 | 101520078 | 101520833 | Frame-shift |
| ENST00000491511 | 101520078 | 101520833 | Frame-shift |
| ENST00000273347 | 101525896 | 101525970 | Frame-shift |
| ENST00000477909 | 101525896 | 101525970 | Frame-shift |
| ENST00000491511 | 101525896 | 101525970 | Frame-shift |
| ENST00000273347 | 101535638 | 101535845 | In-frame |
| ENST00000477909 | 101535638 | 101535845 | In-frame |
| ENST00000491511 | 101535638 | 101535845 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NXPE3 |
| 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 |
| ENST00000273347 | 3958 | 559 | 101535638 | 101535845 | 1515 | 1721 | 307 | 376 |
| ENST00000477909 | 3467 | 559 | 101535638 | 101535845 | 1824 | 2030 | 307 | 376 |
| ENST00000491511 | 8091 | 559 | 101535638 | 101535845 | 1879 | 2085 | 307 | 376 |
| 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 |
| ENST00000273347 | 3958 | 559 | 101535638 | 101535845 | 1515 | 1721 | 307 | 376 |
| ENST00000477909 | 3467 | 559 | 101535638 | 101535845 | 1824 | 2030 | 307 | 376 |
| ENST00000491511 | 8091 | 559 | 101535638 | 101535845 | 1879 | 2085 | 307 | 376 |
| 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 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 31 | 559 | Chain | ID=PRO_0000297594;Note=NXPE family member 3 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q969Y0 | 307 | 376 | 346 | 346 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for NXPE3 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_376377 | 101504246 | 101504533 | 101504452 | 101504452 | Frame_Shift_Del | T | - | p.N4fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376382 | 101520079 | 101520833 | 101520264 | 101520264 | Frame_Shift_Del | C | - | p.G93fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376382 | 101520079 | 101520833 | 101520487 | 101520487 | Frame_Shift_Del | T | - | p.F168fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_376382 | 101520079 | 101520833 | 101520529 | 101520529 | Frame_Shift_Del | A | - | p.K182fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376382 | 101520079 | 101520833 | 101520697 | 101520697 | Frame_Shift_Del | T | - | p.F238fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_376395 | 101535639 | 101535845 | 101535686 | 101535686 | Frame_Shift_Del | G | - | p.G324fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376395 | 101535639 | 101535845 | 101535698 | 101535698 | Frame_Shift_Del | A | - | p.K328fs |
| STAD | TCGA-CG-5728-01 | exon_skip_376382 | 101520079 | 101520833 | 101520160 | 101520160 | Nonsense_Mutation | C | T | p.R59X |
| STAD | TCGA-BR-6452-01 | exon_skip_376392 | 101525897 | 101525970 | 101525942 | 101525942 | Nonsense_Mutation | G | A | p.W298X |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_376395 | 101535639 | 101535845 | 101535694 | 101535694 | Nonsense_Mutation | T | A | p.Y326* |
| HNSC | TCGA-CV-7250-01 | exon_skip_376395 | 101535639 | 101535845 | 101535734 | 101535734 | Nonsense_Mutation | C | T | p.Q340* |
| - 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 |
| HCC4006_LUNG | 101504246 | 101504533 | 101504508 | 101504508 | Missense_Mutation | T | C | p.L23P |
| A549_LUNG | 101520079 | 101520833 | 101520184 | 101520184 | Missense_Mutation | C | A | p.Q67K |
| LS411N_LARGE_INTESTINE | 101520079 | 101520833 | 101520244 | 101520244 | Missense_Mutation | C | T | p.R87W |
| NCIH1666_LUNG | 101520079 | 101520833 | 101520250 | 101520250 | Missense_Mutation | G | T | p.V89F |
| COLO684_ENDOMETRIUM | 101520079 | 101520833 | 101520430 | 101520430 | Missense_Mutation | C | G | p.H149D |
| NCIH446_LUNG | 101520079 | 101520833 | 101520446 | 101520446 | Missense_Mutation | A | T | p.Q154L |
| HCT15_LARGE_INTESTINE | 101520079 | 101520833 | 101520480 | 101520480 | Missense_Mutation | G | T | p.Q165H |
| HEC108_ENDOMETRIUM | 101520079 | 101520833 | 101520484 | 101520484 | Missense_Mutation | G | T | p.G167W |
| YAMATO_SOFT_TISSUE | 101520079 | 101520833 | 101520628 | 101520628 | Missense_Mutation | C | T | p.R215C |
| NCIH2887_LUNG | 101520079 | 101520833 | 101520700 | 101520700 | Missense_Mutation | A | G | p.T239A |
| OVCAR4_OVARY | 101520079 | 101520833 | 101520713 | 101520713 | Missense_Mutation | C | G | p.T243S |
| HUPT3_PANCREAS | 101520079 | 101520833 | 101520821 | 101520821 | Missense_Mutation | C | A | p.A279D |
| HEC251_ENDOMETRIUM | 101525897 | 101525970 | 101525962 | 101525962 | Missense_Mutation | G | T | p.R305I |
| SNU475_LIVER | 101535639 | 101535845 | 101535732 | 101535732 | Missense_Mutation | G | A | p.R339H |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 101535639 | 101535845 | 101535739 | 101535739 | Missense_Mutation | T | A | p.F341L |
| PANC0813_PANCREAS | 101535639 | 101535845 | 101535807 | 101535807 | Missense_Mutation | T | A | p.I364N |
| RHJT_SOFT_TISSUE | 101535639 | 101535845 | 101535810 | 101535810 | Missense_Mutation | G | T | p.R365M |
| HUH7_LIVER | 101535639 | 101535845 | 101535840 | 101535840 | Missense_Mutation | T | C | p.V375A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NXPE3 |
| 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 NXPE3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NXPE3 |
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RelatedDrugs for NXPE3 |
| 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 NXPE3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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