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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 NRP2 |
Gene summary |
Gene information | Gene symbol | NRP2 | Gene ID | 8828 |
Gene name | neuropilin 2 | |
Synonyms | NP2|NPN2|PRO2714|VEGF165R2 | |
Cytomap | 2q33.3 | |
Type of gene | protein-coding | |
Description | neuropilin-2neuropilin-2a(17)neuropilin-2a(22)neuropilin-2b(0)receptor for VEGF165 and semaphorins class3vascular endothelial cell growth factor 165 receptor 2 | |
Modification date | 20180519 | |
UniProtAcc | O60462 | |
Context | PubMed: NRP2 [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 NRP2 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 NRP2 |
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 NRP2 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_332776 | 2 | 206607926:206608276:206610469:206610614:206614448:206614565 | 206610469:206610614 | ENSG00000118257.12 | ENST00000412873.2,ENST00000540841.1,ENST00000540178.1,ENST00000272849.3,ENST00000357118.4,ENST00000357785.5,ENST00000360409.3 |
exon_skip_332777 | 2 | 206617558:206617699:206628397:206628660:206630197:206630294 | 206628397:206628660 | ENSG00000118257.12 | ENST00000412873.2,ENST00000540841.1,ENST00000540178.1,ENST00000272849.3,ENST00000357118.4,ENST00000357785.5,ENST00000360409.3 |
exon_skip_332782 | 2 | 206631506:206631527:206656958:206657009:206659477:206659782 | 206656958:206657009 | ENSG00000118257.12 | ENST00000467850.1,ENST00000357785.5 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NRP2 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_332776 | 2 | 206607926:206608276:206610469:206610614:206614448:206614565 | 206610469:206610614 | ENSG00000118257.12 | ENST00000360409.3,ENST00000540178.1,ENST00000540841.1,ENST00000357118.4,ENST00000357785.5,ENST00000272849.3,ENST00000412873.2 |
exon_skip_332777 | 2 | 206617558:206617699:206628397:206628660:206630197:206630294 | 206628397:206628660 | ENSG00000118257.12 | ENST00000360409.3,ENST00000540178.1,ENST00000540841.1,ENST00000357118.4,ENST00000357785.5,ENST00000272849.3,ENST00000412873.2 |
exon_skip_332782 | 2 | 206631506:206631527:206656958:206657009:206659477:206659782 | 206656958:206657009 | ENSG00000118257.12 | ENST00000357785.5,ENST00000467850.1 |
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 NRP2 |
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 |
ENST00000360409 | 206610469 | 206610614 | Frame-shift |
ENST00000360409 | 206628397 | 206628660 | Frame-shift |
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 |
ENST00000360409 | 206610469 | 206610614 | Frame-shift |
ENST00000360409 | 206628397 | 206628660 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NRP2 |
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 |
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 |
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 NRP2 |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_332777 | 206628398 | 206628660 | 206628465 | 206628465 | Frame_Shift_Del | C | - | p.S704fs |
STAD | TCGA-HU-A4GT-01 | exon_skip_332777 | 206628398 | 206628660 | 206628531 | 206628532 | Frame_Shift_Ins | - | G | p.R726fs |
STAD | TCGA-HU-A4GT-01 | exon_skip_332777 | 206628398 | 206628660 | 206628532 | 206628533 | Frame_Shift_Ins | - | G | p.R726fs |
PAAD | TCGA-H8-A6C1-01 | exon_skip_332776 | 206610470 | 206610614 | 206610562 | 206610562 | Nonsense_Mutation | G | A | p.W578* |
ESCA | TCGA-LN-A4A6-01 | exon_skip_332777 | 206628398 | 206628660 | 206628610 | 206628610 | Nonsense_Mutation | G | T | p.E753* |
ESCA | TCGA-LN-A4A6-01 | exon_skip_332777 | 206628398 | 206628660 | 206628610 | 206628610 | Nonsense_Mutation | G | T | p.E753X |
ESCA | TCGA-JY-A6F8-01 | exon_skip_332782 | 206656959 | 206657009 | 206656994 | 206656994 | Nonsense_Mutation | G | T | p.E826* |
ESCA | TCGA-JY-A6F8-01 | exon_skip_332782 | 206656959 | 206657009 | 206656994 | 206656994 | Nonsense_Mutation | G | T | p.E826X |
UCEC | TCGA-BS-A0UF-01 | exon_skip_332782 | 206656959 | 206657009 | 206657000 | 206657000 | Nonsense_Mutation | G | T | p.E828* |
- 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 |
RKO_LARGE_INTESTINE | 206628398 | 206628660 | 206628465 | 206628465 | Frame_Shift_Del | C | - | p.S704fs |
NCIH1299_LUNG | 206610470 | 206610614 | 206610543 | 206610543 | Missense_Mutation | G | A | p.R572Q |
EFO27_OVARY | 206610470 | 206610614 | 206610584 | 206610584 | Missense_Mutation | C | T | p.R586W |
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206610470 | 206610614 | 206610585 | 206610585 | Missense_Mutation | G | A | p.R586Q |
MDAMB361_BREAST | 206628398 | 206628660 | 206628423 | 206628423 | Missense_Mutation | G | C | p.Q690H |
HCT15_LARGE_INTESTINE | 206628398 | 206628660 | 206628476 | 206628476 | Missense_Mutation | A | C | p.H708P |
HCC2218_MATCHED_NORMAL_TISSUE | 206628398 | 206628660 | 206628481 | 206628481 | Missense_Mutation | C | G | p.P710A |
NCIBL209_MATCHED_NORMAL_TISSUE | 206628398 | 206628660 | 206628481 | 206628481 | Missense_Mutation | C | G | p.P710A |
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206628398 | 206628660 | 206628491 | 206628491 | Missense_Mutation | C | T | p.P713L |
SKMEL2_SKIN | 206628398 | 206628660 | 206628557 | 206628557 | Missense_Mutation | A | G | p.E735G |
HT55_LARGE_INTESTINE | 206628398 | 206628660 | 206628589 | 206628589 | Missense_Mutation | A | T | p.I746F |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206628398 | 206628660 | 206628597 | 206628597 | Missense_Mutation | G | T | p.E748D |
P32ISH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 206628398 | 206628660 | 206628604 | 206628604 | Missense_Mutation | G | A | p.G751S |
GP2D_LARGE_INTESTINE | 206610470 | 206610614 | 206610614 | 206610614 | Splice_Site | G | T | p.D596Y |
GP5D_LARGE_INTESTINE | 206610470 | 206610614 | 206610614 | 206610614 | Splice_Site | G | T | p.D596Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NRP2 |
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_332776 | 2 | 206607926:206608276:206610469:206610614:206614448:206614565 | 206610469:206610614 | ENST00000412873.2,ENST00000540841.1,ENST00000540178.1,ENST00000272849.3,ENST00000357118.4,ENST00000357785.5,ENST00000360409.3 | SKCM | rs849563 | chr2:206610502 | T/G | 1.01e-06 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NRP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NRP2 |
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RelatedDrugs for NRP2 |
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 NRP2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
NRP2 | C0004352 | Autistic Disorder | 1 | CTD_human |
NRP2 | C0036572 | Seizures | 1 | CTD_human |