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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 DZIP1 |
Gene summary |
| Gene information | Gene symbol | DZIP1 | Gene ID | 22873 |
| Gene name | DAZ interacting zinc finger protein 1 | |
| Synonyms | DZIP|DZIPt1 | |
| Cytomap | 13q32.1 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein DZIP1DAZ interacting protein 1DAZ interacting protein testis1DAZ-interacting protein 1/2zinc finger DAZ interacting protein 1zinc-finger protein DZIPt1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86YF9 | |
| Context | PubMed: DZIP1 [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 DZIP1 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 DZIP1 |
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 DZIP1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104337 | 13 | 96246200:96246340:96251618:96251678:96258256:96258313 | 96251618:96251678 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361396.2,ENST00000376829.2,ENST00000361156.3 |
| exon_skip_104349 | 13 | 96251618:96251678:96258256:96258313:96263698:96263747 | 96258256:96258313 | ENSG00000134874.13 | ENST00000361396.2,ENST00000361156.3 |
| exon_skip_104350 | 13 | 96258256:96258313:96261710:96261767:96263698:96263747 | 96261710:96261767 | ENSG00000134874.13 | ENST00000347108.3,ENST00000376829.2,ENST00000466569.1 |
| exon_skip_104351 | 13 | 96272138:96272201:96274596:96274734:96277021:96277183 | 96274596:96274734 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361396.2,ENST00000376829.2,ENST00000466569.1,ENST00000361156.3 |
| exon_skip_104352 | 13 | 96277021:96277183:96282242:96282367:96285487:96285575 | 96282242:96282367 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361396.2,ENST00000376829.2,ENST00000361156.3 |
| exon_skip_104355 | 13 | 96282291:96282367:96282967:96283067:96285487:96285575 | 96282967:96283067 | ENSG00000134874.13 | ENST00000466569.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DZIP1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_104337 | 13 | 96246200:96246340:96251618:96251678:96258256:96258313 | 96251618:96251678 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361156.3,ENST00000361396.2,ENST00000376829.2 |
| exon_skip_104349 | 13 | 96251618:96251678:96258256:96258313:96263698:96263747 | 96258256:96258313 | ENSG00000134874.13 | ENST00000361156.3,ENST00000361396.2 |
| exon_skip_104350 | 13 | 96258256:96258313:96261710:96261767:96263698:96263747 | 96261710:96261767 | ENSG00000134874.13 | ENST00000347108.3,ENST00000376829.2,ENST00000466569.1 |
| exon_skip_104351 | 13 | 96272138:96272201:96274596:96274734:96277021:96277183 | 96274596:96274734 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361156.3,ENST00000361396.2,ENST00000376829.2,ENST00000466569.1 |
| exon_skip_104352 | 13 | 96277021:96277183:96282242:96282367:96285487:96285575 | 96282242:96282367 | ENSG00000134874.13 | ENST00000347108.3,ENST00000361156.3,ENST00000361396.2,ENST00000376829.2 |
| exon_skip_104355 | 13 | 96282291:96282367:96282967:96283067:96285487:96285575 | 96282967:96283067 | ENSG00000134874.13 | ENST00000466569.1 |
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 DZIP1 |
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 |
| ENST00000347108 | 96282242 | 96282367 | Frame-shift |
| ENST00000376829 | 96282242 | 96282367 | Frame-shift |
| ENST00000347108 | 96251618 | 96251678 | In-frame |
| ENST00000376829 | 96251618 | 96251678 | In-frame |
| ENST00000347108 | 96261710 | 96261767 | In-frame |
| ENST00000376829 | 96261710 | 96261767 | In-frame |
| ENST00000347108 | 96274596 | 96274734 | In-frame |
| ENST00000376829 | 96274596 | 96274734 | 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 |
| ENST00000347108 | 96282242 | 96282367 | Frame-shift |
| ENST00000376829 | 96282242 | 96282367 | Frame-shift |
| ENST00000347108 | 96251618 | 96251678 | In-frame |
| ENST00000376829 | 96251618 | 96251678 | In-frame |
| ENST00000347108 | 96261710 | 96261767 | In-frame |
| ENST00000376829 | 96261710 | 96261767 | In-frame |
| ENST00000347108 | 96274596 | 96274734 | In-frame |
| ENST00000376829 | 96274596 | 96274734 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DZIP1 |
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 |
| ENST00000347108 | 7085 | 867 | 96274596 | 96274734 | 1406 | 1543 | 324 | 370 |
| ENST00000376829 | 3755 | 867 | 96274596 | 96274734 | 1825 | 1962 | 324 | 370 |
| ENST00000347108 | 7085 | 867 | 96261710 | 96261767 | 1797 | 1853 | 454 | 473 |
| ENST00000376829 | 3755 | 867 | 96261710 | 96261767 | 2216 | 2272 | 454 | 473 |
| ENST00000347108 | 7085 | 867 | 96251618 | 96251678 | 1911 | 1970 | 492 | 512 |
| ENST00000376829 | 3755 | 867 | 96251618 | 96251678 | 2330 | 2389 | 492 | 512 |
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 |
| ENST00000347108 | 7085 | 867 | 96274596 | 96274734 | 1406 | 1543 | 324 | 370 |
| ENST00000376829 | 3755 | 867 | 96274596 | 96274734 | 1825 | 1962 | 324 | 370 |
| ENST00000347108 | 7085 | 867 | 96261710 | 96261767 | 1797 | 1853 | 454 | 473 |
| ENST00000376829 | 3755 | 867 | 96261710 | 96261767 | 2216 | 2272 | 454 | 473 |
| ENST00000347108 | 7085 | 867 | 96251618 | 96251678 | 1911 | 1970 | 492 | 512 |
| ENST00000376829 | 3755 | 867 | 96251618 | 96251678 | 2330 | 2389 | 492 | 512 |
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 |
| Q86YF9 | 324 | 370 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 324 | 370 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 324 | 370 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 324 | 370 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 324 | 370 | 230 | 340 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YF9 | 324 | 370 | 230 | 340 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YF9 | 454 | 473 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 454 | 473 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 454 | 473 | 455 | 474 | Alternative sequence | ID=VSP_010965;Note=In isoform 2. GNPLAWQAFESQPAAPAVPM->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 |
| Q86YF9 | 454 | 473 | 455 | 474 | Alternative sequence | ID=VSP_010965;Note=In isoform 2. GNPLAWQAFESQPAAPAVPM->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 |
| Q86YF9 | 454 | 473 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 454 | 473 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 492 | 512 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 492 | 512 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 492 | 512 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 492 | 512 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
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 |
| Q86YF9 | 324 | 370 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 324 | 370 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 324 | 370 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 324 | 370 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 324 | 370 | 230 | 340 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YF9 | 324 | 370 | 230 | 340 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q86YF9 | 454 | 473 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 454 | 473 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 454 | 473 | 455 | 474 | Alternative sequence | ID=VSP_010965;Note=In isoform 2. GNPLAWQAFESQPAAPAVPM->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 |
| Q86YF9 | 454 | 473 | 455 | 474 | Alternative sequence | ID=VSP_010965;Note=In isoform 2. GNPLAWQAFESQPAAPAVPM->V;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10231032;Dbxref=PMID:10231032 |
| Q86YF9 | 454 | 473 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 454 | 473 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 492 | 512 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 492 | 512 | 232 | 867 | Alternative sequence | ID=VSP_010964;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:12511597;Dbxref=PMID:12511597 |
| Q86YF9 | 492 | 512 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
| Q86YF9 | 492 | 512 | 1 | 867 | Chain | ID=PRO_0000047106;Note=Zinc finger protein DZIP1 |
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SNVs in the skipped exons for DZIP1 |
- 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 |
| COAD | TCGA-A6-6141-01 | exon_skip_104337 | 96251619 | 96251678 | 96251625 | 96251625 | Nonsense_Mutation | C | A | p.E492X |
| BLCA | TCGA-GD-A3OP-01 | exon_skip_104351 | 96274597 | 96274734 | 96274734 | 96274734 | Nonsense_Mutation | G | A | p.Q325* |
- 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 |
| A431_SKIN | 96251619 | 96251678 | 96251643 | 96251643 | Missense_Mutation | C | G | p.E505Q |
| NCIH1092_LUNG | 96251619 | 96251678 | 96251651 | 96251651 | Missense_Mutation | T | C | p.E502G |
| MELJUSO_SKIN | 96261711 | 96261767 | 96261762 | 96261762 | Missense_Mutation | G | A | p.P457S |
| HCC2998_LARGE_INTESTINE | 96261711 | 96261767 | 96261765 | 96261765 | Missense_Mutation | T | C | p.N456D |
| MCC26_SKIN | 96274597 | 96274734 | 96274632 | 96274632 | Missense_Mutation | C | T | p.D359N |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 96274597 | 96274734 | 96274646 | 96274646 | Missense_Mutation | G | A | p.S354F |
| MOGGUVW_CENTRAL_NERVOUS_SYSTEM | 96274597 | 96274734 | 96274651 | 96274651 | Missense_Mutation | G | T | p.D352E |
| CAL148_BREAST | 96251619 | 96251678 | 96251640 | 96251640 | Nonsense_Mutation | C | A | p.E506* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DZIP1 |
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 DZIP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DZIP1 |
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RelatedDrugs for DZIP1 |
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 DZIP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |