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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 VEZF1 |
 Gene summary |
| Gene information | Gene symbol | VEZF1 | Gene ID | 7716 |
| Gene name | vascular endothelial zinc finger 1 | |
| Synonyms | DB1|ZNF161 | |
| Cytomap | 17q22 | |
| Type of gene | protein-coding | |
| Description | vascular endothelial zinc finger 1putative transcription factor DB1zinc finger protein 161 | |
| Modification date | 20180519 | |
| UniProtAcc | Q14119 | |
| Context | PubMed: VEZF1 [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 |
| VEZF1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 11504723 |
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Exon skipping events across known transcript of Ensembl for VEZF1 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 VEZF1 |
| 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 VEZF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291674 | 17 | 56051119:56052261:56056512:56056674:56057963:56058147 | 56056512:56056674 | ENSG00000136451.4 | ENST00000581208.1,ENST00000258963.3,ENST00000584396.1 |
| exon_skip_291676 | 17 | 56057963:56058147:56059233:56059297:56060059:56060195 | 56059233:56059297 | ENSG00000136451.4 | ENST00000581208.1,ENST00000584396.1 |
| exon_skip_291677 | 17 | 56059233:56059297:56060059:56060754:56065439:56065513 | 56060059:56060754 | ENSG00000136451.4 | ENST00000581208.1 |
| exon_skip_291680 | 17 | 56060288:56060754:56063345:56063505:56065439:56065513 | 56063345:56063505 | ENSG00000136451.4 | ENST00000583932.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VEZF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291674 | 17 | 56051119:56052261:56056512:56056674:56057963:56058147 | 56056512:56056674 | ENSG00000136451.4 | ENST00000258963.3,ENST00000584396.1,ENST00000581208.1 |
| exon_skip_291676 | 17 | 56057963:56058147:56059233:56059297:56060059:56060195 | 56059233:56059297 | ENSG00000136451.4 | ENST00000584396.1,ENST00000581208.1 |
| exon_skip_291677 | 17 | 56059233:56059297:56060059:56060754:56065439:56065513 | 56060059:56060754 | ENSG00000136451.4 | ENST00000581208.1 |
| exon_skip_291680 | 17 | 56060288:56060754:56063345:56063505:56065439:56065513 | 56063345:56063505 | ENSG00000136451.4 | ENST00000583932.1 |
| 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 VEZF1 |
| 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 |
| ENST00000581208 | 56059233 | 56059297 | Frame-shift |
| ENST00000581208 | 56060059 | 56060754 | Frame-shift |
| ENST00000581208 | 56056512 | 56056674 | 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 |
| ENST00000581208 | 56059233 | 56059297 | Frame-shift |
| ENST00000581208 | 56060059 | 56060754 | Frame-shift |
| ENST00000581208 | 56056512 | 56056674 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VEZF1 |
| 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 |
| ENST00000581208 | 2338 | 521 | 56056512 | 56056674 | 1018 | 1179 | 325 | 379 |
| 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 |
| ENST00000581208 | 2338 | 521 | 56056512 | 56056674 | 1018 | 1179 | 325 | 379 |
| 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 |
| Q14119 | 325 | 379 | 1 | 521 | Chain | ID=PRO_0000047435;Note=Vascular endothelial zinc finger 1 |
| Q14119 | 325 | 379 | 340 | 354 | Compositional bias | Note=Poly-Gln |
| Q14119 | 325 | 379 | 362 | 362 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q14119 | 325 | 379 | 350 | 354 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q14119 | 325 | 379 | 1 | 521 | Chain | ID=PRO_0000047435;Note=Vascular endothelial zinc finger 1 |
| Q14119 | 325 | 379 | 340 | 354 | Compositional bias | Note=Poly-Gln |
| Q14119 | 325 | 379 | 362 | 362 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| Q14119 | 325 | 379 | 350 | 354 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for VEZF1 |
| - 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 |
| CHOL | TCGA-W5-AA31-01 | exon_skip_291674 | 56056513 | 56056674 | 56056607 | 56056607 | Frame_Shift_Del | C | - | p.Q345fs |
| CHOL | TCGA-W5-AA31-01 | exon_skip_291674 | 56056513 | 56056674 | 56056609 | 56056610 | Frame_Shift_Del | GC | - | p.QQ344fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_291677 | 56060060 | 56060754 | 56060137 | 56060140 | Frame_Shift_Del | CATC | - | p.217_218del |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_291677 | 56060060 | 56060754 | 56060137 | 56060140 | Frame_Shift_Del | CATC | - | p.RM207fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_291677 | 56060060 | 56060754 | 56060535 | 56060535 | Frame_Shift_Del | C | - | p.D76fs |
| PRAD | TCGA-G9-6348-01 | exon_skip_291677 | 56060060 | 56060754 | 56060635 | 56060635 | Frame_Shift_Del | T | - | p.K42fs |
| PAAD | TCGA-HV-AA8X-01 | exon_skip_291677 | 56060060 | 56060754 | 56060674 | 56060674 | Frame_Shift_Del | A | - | p.P29fs |
| HNSC | TCGA-MT-A67A-01 | exon_skip_291676 | 56059234 | 56059297 | 56059289 | 56059290 | Frame_Shift_Ins | - | GGTCA | p.L237fs |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_291677 | 56060060 | 56060754 | 56060475 | 56060476 | Frame_Shift_Ins | - | C | p.K96fs |
| SKCM | TCGA-D3-A3MR-06 | exon_skip_291677 | 56060060 | 56060754 | 56060475 | 56060476 | Frame_Shift_Ins | - | C | p.P105fs |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_291677 | 56060060 | 56060754 | 56060586 | 56060587 | Frame_Shift_Ins | - | T | p.E59fs |
| HNSC | TCGA-KU-A66S-01 | exon_skip_291677 | 56060060 | 56060754 | 56060673 | 56060674 | Frame_Shift_Ins | - | G | p.S30fs |
| HNSC | TCGA-CV-6941-01 | exon_skip_291677 | 56060060 | 56060754 | 56060238 | 56060238 | Nonsense_Mutation | G | A | p.R175* |
| HNSC | TCGA-CV-6941-01 | exon_skip_291677 | 56060060 | 56060754 | 56060238 | 56060238 | Nonsense_Mutation | G | A | p.R184* |
| - 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 |
| NCIH740_LUNG | 56060060 | 56060754 | 56060391 | 56060392 | Frame_Shift_Ins | - | A | p.A133fs |
| HEC151_ENDOMETRIUM | 56056513 | 56056674 | 56056602 | 56056610 | In_Frame_Del | TGTTGCTGC | - | p.347_350QQQQ>Q |
| HEC1A_ENDOMETRIUM | 56056513 | 56056674 | 56056521 | 56056521 | Missense_Mutation | C | A | p.R377M |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56056513 | 56056674 | 56056533 | 56056533 | Missense_Mutation | G | A | p.A373V |
| NCIH1734_LUNG | 56056513 | 56056674 | 56056579 | 56056579 | Missense_Mutation | T | C | p.S358G |
| SNU1040_LARGE_INTESTINE | 56060060 | 56060754 | 56060142 | 56060142 | Missense_Mutation | G | A | p.R216W |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060159 | 56060159 | Missense_Mutation | C | T | p.R210H |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060163 | 56060163 | Missense_Mutation | G | T | p.Q209K |
| COLO684_ENDOMETRIUM | 56060060 | 56060754 | 56060184 | 56060184 | Missense_Mutation | A | C | p.F202V |
| HCC2450_LUNG | 56060060 | 56060754 | 56060196 | 56060196 | Missense_Mutation | C | T | p.D198N |
| KMH2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060231 | 56060231 | Missense_Mutation | A | G | p.V186A |
| HEC1A_ENDOMETRIUM | 56060060 | 56060754 | 56060237 | 56060237 | Missense_Mutation | C | T | p.R184Q |
| HEC1_ENDOMETRIUM | 56060060 | 56060754 | 56060237 | 56060237 | Missense_Mutation | C | T | p.R184Q |
| HEC1B_ENDOMETRIUM | 56060060 | 56060754 | 56060237 | 56060237 | Missense_Mutation | C | T | p.R184Q |
| MEWO_SKIN | 56060060 | 56060754 | 56060242 | 56060243 | Missense_Mutation | GG | AA | p.A182V |
| MEWO_SKIN | 56060060 | 56060754 | 56060243 | 56060243 | Missense_Mutation | G | A | p.A182V |
| SNU719_STOMACH | 56060060 | 56060754 | 56060246 | 56060246 | Missense_Mutation | T | G | p.K181T |
| SNU1040_LARGE_INTESTINE | 56060060 | 56060754 | 56060265 | 56060265 | Missense_Mutation | C | T | p.A175T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 56060060 | 56060754 | 56060267 | 56060267 | Missense_Mutation | T | C | p.H174R |
| MFE296_ENDOMETRIUM | 56060060 | 56060754 | 56060301 | 56060301 | Missense_Mutation | C | A | p.V163F |
| 639V_URINARY_TRACT | 56060060 | 56060754 | 56060399 | 56060399 | Missense_Mutation | G | A | p.S130L |
| SNU1040_LARGE_INTESTINE | 56060060 | 56060754 | 56060403 | 56060403 | Missense_Mutation | C | T | p.V129I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060420 | 56060420 | Missense_Mutation | C | A | p.S123I |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060511 | 56060511 | Missense_Mutation | C | T | p.E93K |
| HEC151_ENDOMETRIUM | 56060060 | 56060754 | 56060516 | 56060516 | Missense_Mutation | C | T | p.R91H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060615 | 56060615 | Missense_Mutation | G | T | p.T58K |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060627 | 56060627 | Missense_Mutation | C | G | p.G54A |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 56060060 | 56060754 | 56060627 | 56060627 | Missense_Mutation | C | G | p.G54A |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 56060060 | 56060754 | 56060627 | 56060627 | Missense_Mutation | C | G | p.G54A |
| JHH5_LIVER | 56060060 | 56060754 | 56060670 | 56060670 | Missense_Mutation | G | T | p.Q40K |
| SW684_SOFT_TISSUE | 56060060 | 56060754 | 56060682 | 56060682 | Nonsense_Mutation | C | A | p.E36* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VEZF1 |
| 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 VEZF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VEZF1 |
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RelatedDrugs for VEZF1 |
| 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 VEZF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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