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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 PLXDC2 |
 Gene summary |
| Gene information | Gene symbol | PLXDC2 | Gene ID | 84898 |
| Gene name | plexin domain containing 2 | |
| Synonyms | TEM7R | |
| Cytomap | 10p12.31 | |
| Type of gene | protein-coding | |
| Description | plexin domain-containing protein 21200007L24Riktumor endothelial marker 7-related protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q6UX71 | |
| Context | PubMed: PLXDC2 [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 PLXDC2 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 PLXDC2 |
| 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 PLXDC2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40003 | 10 | 20290703:20290915:20335797:20335944:20357098:20357168 | 20335797:20335944 | ENSG00000120594.12 | ENST00000377252.4 |
| exon_skip_40004 | 10 | 20335797:20335944:20357098:20357168:20432223:20432346 | 20357098:20357168 | ENSG00000120594.12 | ENST00000377238.2,ENST00000377252.4 |
| exon_skip_40006 | 10 | 20357098:20357168:20432223:20432346:20436712:20436831 | 20432223:20432346 | ENSG00000120594.12 | ENST00000377238.2,ENST00000377242.3,ENST00000377252.4 |
| exon_skip_40007 | 10 | 20466256:20466338:20500597:20500658:20506354:20506505 | 20500597:20500658 | ENSG00000120594.12 | ENST00000377238.2,ENST00000377242.3,ENST00000377252.4 |
| exon_skip_40008 | 10 | 20506354:20506505:20507992:20508031:20534273:20534434 | 20507992:20508031 | ENSG00000120594.12 | ENST00000377238.2,ENST00000377242.3,ENST00000377252.4 |
| exon_skip_40009 | 10 | 20507992:20508031:20534273:20534434:20568631:20568913 | 20534273:20534434 | ENSG00000120594.12 | ENST00000377238.2,ENST00000377242.3,ENST00000377252.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PLXDC2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40003 | 10 | 20290703:20290915:20335797:20335944:20357098:20357168 | 20335797:20335944 | ENSG00000120594.12 | ENST00000377252.4 |
| exon_skip_40004 | 10 | 20335797:20335944:20357098:20357168:20432223:20432346 | 20357098:20357168 | ENSG00000120594.12 | ENST00000377252.4,ENST00000377238.2 |
| exon_skip_40006 | 10 | 20357098:20357168:20432223:20432346:20436712:20436831 | 20432223:20432346 | ENSG00000120594.12 | ENST00000377242.3,ENST00000377252.4,ENST00000377238.2 |
| exon_skip_40007 | 10 | 20466256:20466338:20500597:20500658:20506354:20506505 | 20500597:20500658 | ENSG00000120594.12 | ENST00000377242.3,ENST00000377252.4,ENST00000377238.2 |
| exon_skip_40008 | 10 | 20506354:20506505:20507992:20508031:20534273:20534434 | 20507992:20508031 | ENSG00000120594.12 | ENST00000377242.3,ENST00000377252.4,ENST00000377238.2 |
| exon_skip_40009 | 10 | 20507992:20508031:20534273:20534434:20568631:20568913 | 20534273:20534434 | ENSG00000120594.12 | ENST00000377242.3,ENST00000377252.4,ENST00000377238.2 |
| 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 PLXDC2 |
| 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 |
| ENST00000377252 | 20357098 | 20357168 | Frame-shift |
| ENST00000377252 | 20500597 | 20500658 | Frame-shift |
| ENST00000377252 | 20534273 | 20534434 | Frame-shift |
| ENST00000377252 | 20335797 | 20335944 | In-frame |
| ENST00000377252 | 20432223 | 20432346 | In-frame |
| ENST00000377252 | 20507992 | 20508031 | 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 |
| ENST00000377252 | 20357098 | 20357168 | Frame-shift |
| ENST00000377252 | 20500597 | 20500658 | Frame-shift |
| ENST00000377252 | 20534273 | 20534434 | Frame-shift |
| ENST00000377252 | 20335797 | 20335944 | In-frame |
| ENST00000377252 | 20432223 | 20432346 | In-frame |
| ENST00000377252 | 20507992 | 20508031 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PLXDC2 |
| 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 |
| ENST00000377252 | 12485 | 529 | 20335797 | 20335944 | 1166 | 1312 | 108 | 157 |
| ENST00000377252 | 12485 | 529 | 20432223 | 20432346 | 1383 | 1505 | 180 | 221 |
| ENST00000377252 | 12485 | 529 | 20507992 | 20508031 | 2115 | 2153 | 424 | 437 |
| 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 |
| ENST00000377252 | 12485 | 529 | 20335797 | 20335944 | 1166 | 1312 | 108 | 157 |
| ENST00000377252 | 12485 | 529 | 20432223 | 20432346 | 1383 | 1505 | 180 | 221 |
| ENST00000377252 | 12485 | 529 | 20507992 | 20508031 | 2115 | 2153 | 424 | 437 |
| 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 |
| Q6UX71 | 108 | 157 | 1 | 378 | Alternative sequence | ID=VSP_018377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6UX71 | 108 | 157 | 109 | 157 | Alternative sequence | ID=VSP_018378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6UX71 | 108 | 157 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 108 | 157 | 31 | 454 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UX71 | 180 | 221 | 1 | 378 | Alternative sequence | ID=VSP_018377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6UX71 | 180 | 221 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 180 | 221 | 31 | 454 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UX71 | 424 | 437 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 424 | 437 | 383 | 427 | Compositional bias | Note=Thr-rich |
| Q6UX71 | 424 | 437 | 31 | 454 | 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 |
| Q6UX71 | 108 | 157 | 1 | 378 | Alternative sequence | ID=VSP_018377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6UX71 | 108 | 157 | 109 | 157 | Alternative sequence | ID=VSP_018378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q6UX71 | 108 | 157 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 108 | 157 | 31 | 454 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UX71 | 180 | 221 | 1 | 378 | Alternative sequence | ID=VSP_018377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q6UX71 | 180 | 221 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 180 | 221 | 31 | 454 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q6UX71 | 424 | 437 | 31 | 529 | Chain | ID=PRO_0000234574;Note=Plexin domain-containing protein 2 |
| Q6UX71 | 424 | 437 | 383 | 427 | Compositional bias | Note=Thr-rich |
| Q6UX71 | 424 | 437 | 31 | 454 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PLXDC2 |
| - 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 |
| STAD | TCGA-BR-6452-01 | exon_skip_40004 | 20357099 | 20357168 | 20357165 | 20357165 | Frame_Shift_Del | G | - | p.T179fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_40006 | 20432224 | 20432346 | 20432336 | 20432336 | Frame_Shift_Del | T | - | p.Y218fs |
| READ | TCGA-F5-6814-01 | exon_skip_40006 | 20432224 | 20432346 | 20432241 | 20432241 | Nonsense_Mutation | G | T | p.E187X |
| PAAD | TCGA-IB-7651-01 | exon_skip_40006 | 20432224 | 20432346 | 20432253 | 20432253 | Nonsense_Mutation | C | T | p.R191* |
| PAAD | TCGA-IB-7651-01 | exon_skip_40006 | 20432224 | 20432346 | 20432253 | 20432253 | Nonsense_Mutation | C | T | p.R191X |
| UCEC | TCGA-AP-A051-01 | exon_skip_40007 | 20500598 | 20500658 | 20500656 | 20500656 | Nonsense_Mutation | G | T | p.E374* |
| BLCA | TCGA-K4-A54R-01 | exon_skip_40009 | 20534274 | 20534434 | 20534409 | 20534409 | Nonsense_Mutation | C | G | p.S483* |
| SKCM | TCGA-RP-A695-06 | exon_skip_40006 | 20432224 | 20432346 | 20432347 | 20432347 | Splice_Site | G | A | . |
| - 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 |
| REC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20335798 | 20335944 | 20335832 | 20335832 | Missense_Mutation | T | C | p.I120T |
| TYKNU_OVARY | 20335798 | 20335944 | 20335852 | 20335852 | Missense_Mutation | G | A | p.A127T |
| C8166_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20335798 | 20335944 | 20335887 | 20335887 | Missense_Mutation | G | A | p.M138I |
| 639V_URINARY_TRACT | 20335798 | 20335944 | 20335896 | 20335896 | Missense_Mutation | T | G | p.D141E |
| SNU1033_LARGE_INTESTINE | 20357099 | 20357168 | 20357135 | 20357135 | Missense_Mutation | C | A | p.H170N |
| A204_SOFT_TISSUE | 20432224 | 20432346 | 20432251 | 20432251 | Missense_Mutation | A | G | p.H190R |
| TTC642_SOFT_TISSUE | 20432224 | 20432346 | 20432251 | 20432251 | Missense_Mutation | A | G | p.H190R |
| RH28_SOFT_TISSUE | 20432224 | 20432346 | 20432284 | 20432284 | Missense_Mutation | C | G | p.P201R |
| HCC2998_LARGE_INTESTINE | 20432224 | 20432346 | 20432301 | 20432301 | Missense_Mutation | G | A | p.D207N |
| MDAMB361_BREAST | 20432224 | 20432346 | 20432340 | 20432340 | Missense_Mutation | G | A | p.D220N |
| KM12_LARGE_INTESTINE | 20500598 | 20500658 | 20500603 | 20500603 | Missense_Mutation | C | T | p.S356F |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20500598 | 20500658 | 20500624 | 20500624 | Missense_Mutation | G | A | p.R363Q |
| NCIH1373_LUNG | 20500598 | 20500658 | 20500641 | 20500641 | Missense_Mutation | A | G | p.S369G |
| A375_SKIN | 20534274 | 20534434 | 20534312 | 20534312 | Missense_Mutation | A | G | p.T451A |
| PANC0203_PANCREAS | 20534274 | 20534434 | 20534321 | 20534321 | Missense_Mutation | G | A | p.A454T |
| DL40_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20534274 | 20534434 | 20534342 | 20534342 | Missense_Mutation | C | G | p.L461V |
| PACADD119_PANCREAS | 20534274 | 20534434 | 20534345 | 20534345 | Missense_Mutation | A | T | p.I462F |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 20534274 | 20534434 | 20534345 | 20534345 | Missense_Mutation | A | T | p.I462F |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20534274 | 20534434 | 20534363 | 20534363 | Missense_Mutation | G | T | p.A468S |
| NCIH630_LARGE_INTESTINE | 20534274 | 20534434 | 20534382 | 20534382 | Missense_Mutation | C | T | p.T474I |
| SNU81_LARGE_INTESTINE | 20335798 | 20335944 | 20335828 | 20335828 | Nonsense_Mutation | C | T | p.R119* |
| JHUEM7_ENDOMETRIUM | 20357099 | 20357168 | 20357147 | 20357147 | Nonsense_Mutation | G | T | p.E174* |
| HEC251_ENDOMETRIUM | 20432224 | 20432346 | 20432253 | 20432253 | Nonsense_Mutation | C | T | p.R191* |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 20507993 | 20508031 | 20508031 | 20508031 | Splice_Site | G | T | p.A438S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PLXDC2 |
| 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 PLXDC2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PLXDC2 |
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RelatedDrugs for PLXDC2 |
| 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 PLXDC2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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