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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 PLXNA2 |
 Gene summary |
| Gene information | Gene symbol | PLXNA2 | Gene ID | 5362 |
| Gene name | plexin A2 | |
| Synonyms | OCT|PLXN2 | |
| Cytomap | 1q32.2 | |
| Type of gene | protein-coding | |
| Description | plexin-A2plexin 2semaphorin receptor OCTtransmembrane protein OCT | |
| Modification date | 20180523 | |
| UniProtAcc | O75051 | |
| Context | PubMed: PLXNA2 [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 PLXNA2 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 PLXNA2 |
| 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 PLXNA2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36676 | 1 | 208202174:208202387:208204934:208205104:208206663:208206854 | 208204934:208205104 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36678 | 1 | 208204934:208205104:208206663:208206854:208207837:208207937 | 208206663:208206854 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36680 | 1 | 208255756:208255853:208257724:208257925:208266130:208266245 | 208257724:208257925 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36681 | 1 | 208276491:208276592:208315673:208315808:208383624:208383807 | 208315673:208315808 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36682 | 1 | 208315673:208315808:208383624:208383807:208390079:208390359 | 208383624:208383807 | ENSG00000076356.6 | ENST00000367033.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLXNA2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_36676 | 1 | 208202174:208202387:208204934:208205104:208206663:208206854 | 208204934:208205104 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36678 | 1 | 208204934:208205104:208206663:208206854:208207837:208207937 | 208206663:208206854 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36680 | 1 | 208255756:208255853:208257724:208257925:208266130:208266245 | 208257724:208257925 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36681 | 1 | 208276491:208276592:208315673:208315808:208383624:208383807 | 208315673:208315808 | ENSG00000076356.6 | ENST00000367033.3 |
| exon_skip_36682 | 1 | 208315673:208315808:208383624:208383807:208390079:208390359 | 208383624:208383807 | ENSG00000076356.6 | ENST00000367033.3 |
| 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 PLXNA2 |
| 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 |
| ENST00000367033 | 208204934 | 208205104 | Frame-shift |
| ENST00000367033 | 208206663 | 208206854 | Frame-shift |
| ENST00000367033 | 208257724 | 208257925 | In-frame |
| ENST00000367033 | 208315673 | 208315808 | In-frame |
| ENST00000367033 | 208383624 | 208383807 | 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 |
| ENST00000367033 | 208204934 | 208205104 | Frame-shift |
| ENST00000367033 | 208206663 | 208206854 | Frame-shift |
| ENST00000367033 | 208257724 | 208257925 | In-frame |
| ENST00000367033 | 208315673 | 208315808 | In-frame |
| ENST00000367033 | 208383624 | 208383807 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLXNA2 |
| 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 |
| ENST00000367033 | 11461 | 1894 | 208383624 | 208383807 | 1947 | 2129 | 396 | 457 |
| ENST00000367033 | 11461 | 1894 | 208315673 | 208315808 | 2130 | 2264 | 457 | 502 |
| ENST00000367033 | 11461 | 1894 | 208257724 | 208257925 | 2856 | 3056 | 699 | 766 |
| 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 |
| ENST00000367033 | 11461 | 1894 | 208383624 | 208383807 | 1947 | 2129 | 396 | 457 |
| ENST00000367033 | 11461 | 1894 | 208315673 | 208315808 | 2130 | 2264 | 457 | 502 |
| ENST00000367033 | 11461 | 1894 | 208257724 | 208257925 | 2856 | 3056 | 699 | 766 |
| 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 |
| O75051 | 396 | 457 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 396 | 457 | 284 | 405 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 396 | 457 | 35 | 508 | Domain | Note=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 396 | 457 | 35 | 1237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 457 | 502 | 458 | 498 | Alternative sequence | ID=VSP_017968;Note=In isoform 2. IRADGPPHGGVQYEMVSVLKDGSPILRDMAFSIDQRYLYVM->VRVYEFRCSNAIHLLSKESLLEGSYWWRFNYRQLYFLGEQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 457 | 502 | 499 | 1894 | Alternative sequence | ID=VSP_017969;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 457 | 502 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 457 | 502 | 35 | 508 | Domain | Note=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 457 | 502 | 35 | 1237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 699 | 766 | 499 | 1894 | Alternative sequence | ID=VSP_017969;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 699 | 766 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 699 | 766 | 756 | 756 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 699 | 766 | 35 | 1237 | Topological domain | Note=Extracellular;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 |
| O75051 | 396 | 457 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 396 | 457 | 284 | 405 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 396 | 457 | 35 | 508 | Domain | Note=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 396 | 457 | 35 | 1237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 457 | 502 | 458 | 498 | Alternative sequence | ID=VSP_017968;Note=In isoform 2. IRADGPPHGGVQYEMVSVLKDGSPILRDMAFSIDQRYLYVM->VRVYEFRCSNAIHLLSKESLLEGSYWWRFNYRQLYFLGEQR;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 457 | 502 | 499 | 1894 | Alternative sequence | ID=VSP_017969;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 457 | 502 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 457 | 502 | 35 | 508 | Domain | Note=Sema;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00352 |
| O75051 | 457 | 502 | 35 | 1237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 699 | 766 | 499 | 1894 | Alternative sequence | ID=VSP_017969;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12975309;Dbxref=PMID:12975309 |
| O75051 | 699 | 766 | 35 | 1894 | Chain | ID=PRO_0000232747;Note=Plexin-A2 |
| O75051 | 699 | 766 | 756 | 756 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75051 | 699 | 766 | 35 | 1237 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PLXNA2 |
| - 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-A39Y-01 | exon_skip_36680 | 208257725 | 208257925 | 208257870 | 208257870 | Frame_Shift_Del | T | - | p.K718fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_36680 | 208257725 | 208257925 | 208257877 | 208257877 | Frame_Shift_Del | C | - | p.E716fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_36681 | 208315674 | 208315808 | 208315787 | 208315787 | Frame_Shift_Del | G | - | p.H465fs |
| UCEC | TCGA-D1-A17U-01 | exon_skip_36681 | 208315674 | 208315808 | 208315787 | 208315787 | Frame_Shift_Del | G | - | p.H465fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_36682 | 208383625 | 208383807 | 208383655 | 208383655 | Frame_Shift_Del | A | - | p.F447fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_36682 | 208383625 | 208383807 | 208383655 | 208383655 | Frame_Shift_Del | A | - | p.F447fs |
| UCS | TCGA-N9-A4Q4-01 | exon_skip_36681 | 208315674 | 208315808 | 208315676 | 208315677 | Frame_Shift_Ins | - | TC | p.G502fs |
| UCS | TCGA-N9-A4Q4-01 | exon_skip_36681 | 208315674 | 208315808 | 208315676 | 208315677 | Frame_Shift_Ins | - | TC | p.Q502fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_36681 | 208315674 | 208315808 | 208315786 | 208315787 | Frame_Shift_Ins | - | GG | p.H465fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_36681 | 208315674 | 208315808 | 208315787 | 208315788 | Frame_Shift_Ins | - | G | p.H465fs |
| STAD | TCGA-CG-5721-01 | exon_skip_36681 | 208315674 | 208315808 | 208315787 | 208315788 | Frame_Shift_Ins | - | G | p.H465fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_36681 | 208315674 | 208315808 | 208315787 | 208315788 | Frame_Shift_Ins | - | GG | p.H465fs |
| LUAD | TCGA-55-A490-01 | exon_skip_36681 | 208315674 | 208315808 | 208315745 | 208315745 | Nonsense_Mutation | C | A | p.G479* |
| - 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 |
| HEC265_ENDOMETRIUM | 208315674 | 208315808 | 208315787 | 208315787 | Frame_Shift_Del | G | - | p.H465fs |
| OC316_OVARY | 208315674 | 208315808 | 208315786 | 208315787 | Frame_Shift_Ins | - | G | p.H465fs |
| CW2_LARGE_INTESTINE | 208315674 | 208315808 | 208315786 | 208315787 | Frame_Shift_Ins | - | G | p.H465fs |
| LIM1215_LARGE_INTESTINE | 208315674 | 208315808 | 208315786 | 208315787 | Frame_Shift_Ins | - | G | p.H465fs |
| RVH421_SKIN | 208204935 | 208205104 | 208204963 | 208204963 | Missense_Mutation | C | T | p.D1733N |
| SKMEL5_SKIN | 208204935 | 208205104 | 208204972 | 208204972 | Missense_Mutation | G | A | p.H1730Y |
| 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 208204935 | 208205104 | 208205046 | 208205046 | Missense_Mutation | C | A | p.R1705L |
| NCIH2342_LUNG | 208204935 | 208205104 | 208205094 | 208205094 | Missense_Mutation | T | A | p.Q1689L |
| RKO_LARGE_INTESTINE | 208206664 | 208206854 | 208206816 | 208206816 | Missense_Mutation | G | A | p.R1635W |
| SNUC4_LARGE_INTESTINE | 208257725 | 208257925 | 208257768 | 208257768 | Missense_Mutation | G | A | p.A752V |
| SNU1040_LARGE_INTESTINE | 208257725 | 208257925 | 208257852 | 208257852 | Missense_Mutation | G | A | p.A724V |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 208315674 | 208315808 | 208315703 | 208315703 | Missense_Mutation | G | A | p.R493C |
| HEC59_ENDOMETRIUM | 208315674 | 208315808 | 208315730 | 208315730 | Missense_Mutation | G | A | p.R484W |
| C2BBE1_LARGE_INTESTINE | 208315674 | 208315808 | 208315730 | 208315730 | Missense_Mutation | G | A | p.R484W |
| HEC251_ENDOMETRIUM | 208315674 | 208315808 | 208315756 | 208315756 | Missense_Mutation | A | G | p.V475A |
| HS870T_FIBROBLAST | 208315674 | 208315808 | 208315789 | 208315789 | Missense_Mutation | G | C | p.P464R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLXNA2 |
| 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 PLXNA2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLXNA2 |
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RelatedDrugs for PLXNA2 |
| 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 PLXNA2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PLXNA2 | C0036341 | Schizophrenia | 1 | CTD_human |
| PLXNA2 | C0338908 | Mixed anxiety and depressive disorder | 1 | PSYGENET |
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