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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 VNN3 |
Gene summary |
Gene information | Gene symbol | VNN3 | Gene ID | 55350 |
Gene name | vanin 3 | |
Synonyms | HSA238982 | |
Cytomap | 6q23.2 | |
Type of gene | protein-coding | |
Description | vascular non-inflammatory molecule 3pantetheinase pseudogenepantetheinase-associated gene expressed in leukocytes (PAGEL)-alphavanin 1 pseudogene | |
Modification date | 20180523 | |
UniProtAcc | Q9NY84 | |
Context | PubMed: VNN3 [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 VNN3 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 VNN3 |
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 VNN3 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_462372 | 6 | 133046059:133046118:133047860:133047977:133049879:133050072 | 133047860:133047977 | ENSG00000093134.9 | ENST00000519686.2,ENST00000392393.3 |
exon_skip_462373 | 6 | 133046059:133046118:133047860:133047977:133055391:133055472 | 133047860:133047977 | ENSG00000093134.9 | ENST00000450865.2 |
exon_skip_462374 | 6 | 133046059:133046118:133047860:133048151:133049879:133050072 | 133047860:133048151 | ENSG00000093134.9 | ENST00000425515.2,ENST00000367927.5 |
exon_skip_462375 | 6 | 133046059:133046118:133047860:133048151:133055391:133055472 | 133047860:133048151 | ENSG00000093134.9 | ENST00000414302.2 |
exon_skip_462376 | 6 | 133046059:133046118:133049879:133050072:133055391:133055472 | 133049879:133050072 | ENSG00000093134.9 | ENST00000427187.2 |
exon_skip_462377 | 6 | 133046059:133046118:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000275223.3 |
exon_skip_462379 | 6 | 133047860:133047977:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000519686.2 |
exon_skip_462380 | 6 | 133048132:133048151:133049879:133050072:133055391:133055472 | 133049879:133050072 | ENSG00000093134.9 | ENST00000207771.3,ENST00000367927.5 |
exon_skip_462381 | 6 | 133048132:133048151:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000425515.2 |
exon_skip_462383 | 6 | 133049879:133050118:133052513:133052666:133055391:133055472 | 133052513:133052666 | ENSG00000093134.9 | ENST00000392393.3,ENST00000544102.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VNN3 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_462372 | 6 | 133046059:133046118:133047860:133047977:133049879:133050072 | 133047860:133047977 | ENSG00000093134.9 | ENST00000519686.2,ENST00000392393.3 |
exon_skip_462373 | 6 | 133046059:133046118:133047860:133047977:133055391:133055472 | 133047860:133047977 | ENSG00000093134.9 | ENST00000450865.2 |
exon_skip_462374 | 6 | 133046059:133046118:133047860:133048151:133049879:133050072 | 133047860:133048151 | ENSG00000093134.9 | ENST00000367927.5,ENST00000425515.2 |
exon_skip_462375 | 6 | 133046059:133046118:133047860:133048151:133055391:133055472 | 133047860:133048151 | ENSG00000093134.9 | ENST00000414302.2 |
exon_skip_462376 | 6 | 133046059:133046118:133049879:133050072:133055391:133055472 | 133049879:133050072 | ENSG00000093134.9 | ENST00000427187.2 |
exon_skip_462377 | 6 | 133046059:133046118:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000275223.3 |
exon_skip_462379 | 6 | 133047860:133047977:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000519686.2 |
exon_skip_462380 | 6 | 133048132:133048151:133049879:133050072:133055391:133055472 | 133049879:133050072 | ENSG00000093134.9 | ENST00000367927.5,ENST00000207771.3 |
exon_skip_462381 | 6 | 133048132:133048151:133049879:133050118:133055391:133055472 | 133049879:133050118 | ENSG00000093134.9 | ENST00000425515.2 |
exon_skip_462383 | 6 | 133049879:133050118:133052513:133052666:133055391:133055472 | 133052513:133052666 | ENSG00000093134.9 | ENST00000392393.3,ENST00000544102.1 |
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 VNN3 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for VNN3 |
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 VNN3 |
- 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-DD-A39Y-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133048040 | 133048040 | Frame_Shift_Del | A | - | p.S217fs |
LIHC | TCGA-DD-A1EG-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133048059 | 133048059 | Frame_Shift_Del | A | - | p.F210fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133048059 | 133048059 | Frame_Shift_Del | A | - | p.F210fs |
LUAD | TCGA-64-1678-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133048074 | 133048074 | Frame_Shift_Del | C | - | p.G205fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_462376 exon_skip_462380 | 133049880 | 133050072 | 133049953 | 133049953 | Frame_Shift_Del | G | - | p.P155fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_462379 exon_skip_462377 exon_skip_462381 | 133049880 | 133050118 | 133049953 | 133049953 | Frame_Shift_Del | G | - | p.P155fs |
LUAD | TCGA-05-4417-01 | exon_skip_462373 exon_skip_462372 | 133047861 | 133047977 | 133047925 | 133047925 | Nonsense_Mutation | C | T | p.W254* |
LUAD | TCGA-05-4417-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133047925 | 133047925 | Nonsense_Mutation | C | T | p.W254* |
PAAD | TCGA-IB-7651-01 | exon_skip_462373 exon_skip_462372 | 133047861 | 133047977 | 133047932 | 133047932 | Nonsense_Mutation | G | A | p.Q253* |
PAAD | TCGA-IB-7651-01 | exon_skip_462374 exon_skip_462375 | 133047861 | 133048151 | 133047932 | 133047932 | Nonsense_Mutation | G | A | p.Q253* |
- 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 |
JHUEM2_ENDOMETRIUM | 133047861 | 133048151 | 133047896 | 133047896 | Missense_Mutation | G | A | p.A264V |
JHUEM2_ENDOMETRIUM | 133047861 | 133047977 | 133047896 | 133047896 | Missense_Mutation | G | A | p.A264V |
SNU1040_LARGE_INTESTINE | 133047861 | 133048151 | 133047910 | 133047910 | Missense_Mutation | T | A | p.S139C |
SNU1040_LARGE_INTESTINE | 133047861 | 133047977 | 133047910 | 133047910 | Missense_Mutation | T | A | p.S139C |
MFE319_ENDOMETRIUM | 133047861 | 133048151 | 133047917 | 133047917 | Missense_Mutation | G | A | p.P258S |
MFE319_ENDOMETRIUM | 133047861 | 133047977 | 133047917 | 133047917 | Missense_Mutation | G | A | p.P258S |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133047861 | 133048151 | 133047930 | 133047930 | Missense_Mutation | C | T | p.S132N |
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133047861 | 133047977 | 133047930 | 133047930 | Missense_Mutation | C | T | p.S132N |
HCC2998_LARGE_INTESTINE | 133047861 | 133048151 | 133047937 | 133047937 | Missense_Mutation | G | A | p.P130S |
HCC2998_LARGE_INTESTINE | 133047861 | 133047977 | 133047937 | 133047937 | Missense_Mutation | G | A | p.P130S |
EWS502_BONE | 133047861 | 133048151 | 133048013 | 133048013 | Missense_Mutation | C | A | p.D226Y |
HCC461_LUNG | 133047861 | 133048151 | 133048100 | 133048100 | Missense_Mutation | G | C | p.N132K |
SNU1040_LARGE_INTESTINE | 133049880 | 133050118 | 133049890 | 133049890 | Missense_Mutation | C | T | p.R176H |
SNU1040_LARGE_INTESTINE | 133049880 | 133050072 | 133049890 | 133049890 | Missense_Mutation | C | T | p.R176H |
MCC13_SKIN | 133049880 | 133050118 | 133049905 | 133049905 | Missense_Mutation | C | T | p.G171E |
MCC13_SKIN | 133049880 | 133050072 | 133049905 | 133049905 | Missense_Mutation | C | T | p.G171E |
SW837_LARGE_INTESTINE | 133049880 | 133050118 | 133049923 | 133049923 | Missense_Mutation | A | G | p.V165A |
SW837_LARGE_INTESTINE | 133049880 | 133050072 | 133049923 | 133049923 | Missense_Mutation | A | G | p.V165A |
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 133052514 | 133052666 | 133052626 | 133052626 | Missense_Mutation | A | G | p.C129R |
SW626_OVARY | 133047861 | 133048151 | 133047911 | 133047911 | Nonsense_Mutation | C | A | p.E260* |
SW626_OVARY | 133047861 | 133047977 | 133047911 | 133047911 | Nonsense_Mutation | C | A | p.E260* |
SNU175_LARGE_INTESTINE | 133047861 | 133048151 | 133047912 | 133047912 | Nonsense_Mutation | C | T | p.W259* |
SNU175_LARGE_INTESTINE | 133047861 | 133047977 | 133047912 | 133047912 | Nonsense_Mutation | C | T | p.W259* |
NUGC3_STOMACH | 133049880 | 133050118 | 133049903 | 133049903 | Nonsense_Mutation | T | A | p.K172* |
NUGC3_STOMACH | 133049880 | 133050072 | 133049903 | 133049903 | Nonsense_Mutation | T | A | p.K172* |
SNU81_LARGE_INTESTINE | 133052514 | 133052666 | 133052585 | 133052585 | Nonsense_Mutation | C | T | p.W142* |
JHUEM7_ENDOMETRIUM | 133052514 | 133052666 | 133052632 | 133052632 | Nonsense_Mutation | C | A | p.E127* |
J82_URINARY_TRACT | 133047861 | 133048151 | 133047861 | 133047861 | Splice_Site | C | T | p.R155K |
J82_URINARY_TRACT | 133047861 | 133047977 | 133047861 | 133047861 | Splice_Site | C | T | p.R155K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VNN3 |
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 VNN3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VNN3 |
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RelatedDrugs for VNN3 |
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 VNN3 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
VNN3 | C0033860 | Psoriasis | 1 | CTD_human |