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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 DZIP3 |
 Gene summary |
| Gene information | Gene symbol | DZIP3 | Gene ID | 9666 |
| Gene name | DAZ interacting zinc finger protein 3 | |
| Synonyms | PPP1R66|UURF2|hRUL138 | |
| Cytomap | 3q13.13 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase DZIP3DAZ interacting protein 3, zinc fingerDAZ-interacting protein 3RING-type E3 ubiquitin transferase DZIP3RNA-binding RING-H2 protein-ubiquitin ligaseRNA-binding ubiquitin ligase of 138 kDaUURF2 ubiquitin ligasehuman R | |
| Modification date | 20180523 | |
| UniProtAcc | Q86Y13 | |
| Context | PubMed: DZIP3 [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 |
| DZIP3 | GO:0000209 | protein polyubiquitination | 12538761 |
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Exon skipping events across known transcript of Ensembl for DZIP3 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 DZIP3 |
| 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 DZIP3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376499 | 3 | 108308580:108308686:108324181:108324285:108326935:108327005 | 108324181:108324285 | ENSG00000198919.8 | ENST00000495008.1 |
| exon_skip_376500 | 3 | 108308901:108308943:108324181:108324285:108326935:108327005 | 108324181:108324285 | ENSG00000198919.8 | ENST00000479138.1 |
| exon_skip_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENSG00000198919.8 | ENST00000497905.1 |
| exon_skip_376502 | 3 | 108361284:108361361:108363010:108363628:108365463:108365496 | 108363010:108363628 | ENSG00000198919.8 | ENST00000495008.1,ENST00000463306.1,ENST00000361582.3,ENST00000479138.1 |
| exon_skip_376504 | 3 | 108363010:108363628:108365463:108365496:108366789:108366959 | 108365463:108365496 | ENSG00000198919.8 | ENST00000495008.1,ENST00000463306.1,ENST00000361582.3,ENST00000479138.1 |
| exon_skip_376505 | 3 | 108380976:108381104:108388527:108388596:108391406:108391503 | 108388527:108388596 | ENSG00000198919.8 | ENST00000495008.1,ENST00000463306.1,ENST00000361582.3 |
| exon_skip_376507 | 3 | 108403062:108403188:108405291:108405431:108406822:108406943 | 108405291:108405431 | ENSG00000198919.8 | ENST00000463306.1,ENST00000361582.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for DZIP3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_376499 | 3 | 108308580:108308686:108324181:108324285:108326935:108327005 | 108324181:108324285 | ENSG00000198919.8 | ENST00000495008.1 |
| exon_skip_376500 | 3 | 108308901:108308943:108324181:108324285:108326935:108327005 | 108324181:108324285 | ENSG00000198919.8 | ENST00000479138.1 |
| exon_skip_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENSG00000198919.8 | ENST00000497905.1 |
| exon_skip_376502 | 3 | 108361284:108361361:108363010:108363628:108365463:108365496 | 108363010:108363628 | ENSG00000198919.8 | ENST00000361582.3,ENST00000495008.1,ENST00000479138.1,ENST00000463306.1 |
| exon_skip_376504 | 3 | 108363010:108363628:108365463:108365496:108366789:108366959 | 108365463:108365496 | ENSG00000198919.8 | ENST00000361582.3,ENST00000495008.1,ENST00000479138.1,ENST00000463306.1 |
| exon_skip_376505 | 3 | 108380976:108381104:108388527:108388596:108391406:108391503 | 108388527:108388596 | ENSG00000198919.8 | ENST00000361582.3,ENST00000495008.1,ENST00000463306.1 |
| exon_skip_376507 | 3 | 108403062:108403188:108405291:108405431:108406822:108406943 | 108405291:108405431 | ENSG00000198919.8 | ENST00000361582.3,ENST00000463306.1 |
| 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 DZIP3 |
| 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 |
| ENST00000361582 | 108405291 | 108405431 | Frame-shift |
| ENST00000463306 | 108405291 | 108405431 | Frame-shift |
| ENST00000361582 | 108363010 | 108363628 | In-frame |
| ENST00000463306 | 108363010 | 108363628 | In-frame |
| ENST00000361582 | 108365463 | 108365496 | In-frame |
| ENST00000463306 | 108365463 | 108365496 | In-frame |
| ENST00000361582 | 108388527 | 108388596 | In-frame |
| ENST00000463306 | 108388527 | 108388596 | 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 |
| ENST00000361582 | 108405291 | 108405431 | Frame-shift |
| ENST00000463306 | 108405291 | 108405431 | Frame-shift |
| ENST00000361582 | 108363010 | 108363628 | In-frame |
| ENST00000463306 | 108363010 | 108363628 | In-frame |
| ENST00000361582 | 108365463 | 108365496 | In-frame |
| ENST00000463306 | 108365463 | 108365496 | In-frame |
| ENST00000361582 | 108388527 | 108388596 | In-frame |
| ENST00000463306 | 108388527 | 108388596 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DZIP3 |
| 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 |
| ENST00000361582 | 5367 | 1208 | 108363010 | 108363628 | 1372 | 1989 | 380 | 586 |
| ENST00000463306 | 4263 | 1208 | 108363010 | 108363628 | 1271 | 1888 | 380 | 586 |
| ENST00000361582 | 5367 | 1208 | 108365463 | 108365496 | 1990 | 2022 | 586 | 597 |
| ENST00000463306 | 4263 | 1208 | 108365463 | 108365496 | 1889 | 1921 | 586 | 597 |
| ENST00000361582 | 5367 | 1208 | 108388527 | 108388596 | 2654 | 2722 | 808 | 830 |
| ENST00000463306 | 4263 | 1208 | 108388527 | 108388596 | 2553 | 2621 | 808 | 830 |
| 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 |
| ENST00000361582 | 5367 | 1208 | 108363010 | 108363628 | 1372 | 1989 | 380 | 586 |
| ENST00000463306 | 4263 | 1208 | 108363010 | 108363628 | 1271 | 1888 | 380 | 586 |
| ENST00000361582 | 5367 | 1208 | 108365463 | 108365496 | 1990 | 2022 | 586 | 597 |
| ENST00000463306 | 4263 | 1208 | 108365463 | 108365496 | 1889 | 1921 | 586 | 597 |
| ENST00000361582 | 5367 | 1208 | 108388527 | 108388596 | 2654 | 2722 | 808 | 830 |
| ENST00000463306 | 4263 | 1208 | 108388527 | 108388596 | 2553 | 2621 | 808 | 830 |
| 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 DZIP3 |
| - 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 |
| KIRP | TCGA-HE-7128-01 | exon_skip_376499 exon_skip_376500 | 108324182 | 108324285 | 108324275 | 108324275 | Frame_Shift_Del | T | - | p.E7fs |
| KIRP | TCGA-HE-7128-01 | exon_skip_376499 exon_skip_376500 | 108324182 | 108324285 | 108324275 | 108324275 | Frame_Shift_Del | T | - | p.F8fs |
| KIRP | TCGA-HE-7128-01 | exon_skip_376499 exon_skip_376500 | 108324182 | 108324285 | 108324275 | 108324275 | Frame_Shift_Del | T | - | p.F9fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376499 exon_skip_376500 | 108324182 | 108324285 | 108324275 | 108324275 | Frame_Shift_Del | T | - | p.F9fs |
| READ | TCGA-EI-6507-01 | exon_skip_376499 exon_skip_376500 | 108324182 | 108324285 | 108324275 | 108324275 | Frame_Shift_Del | T | - | p.E7fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376502 | 108363011 | 108363628 | 108363133 | 108363133 | Frame_Shift_Del | A | - | p.K423fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376502 | 108363011 | 108363628 | 108363185 | 108363185 | Frame_Shift_Del | T | - | p.L439fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_376502 | 108363011 | 108363628 | 108363201 | 108363201 | Frame_Shift_Del | T | - | p.P444fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_376502 | 108363011 | 108363628 | 108363319 | 108363319 | Frame_Shift_Del | A | - | p.K485fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_376502 | 108363011 | 108363628 | 108363460 | 108363460 | Frame_Shift_Del | A | - | p.K532fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_376507 | 108405292 | 108405431 | 108405308 | 108405308 | Frame_Shift_Del | G | - | p.W1009fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_376507 | 108405292 | 108405431 | 108405406 | 108405406 | Frame_Shift_Del | A | - | p.K1042fs |
| COAD | TCGA-AD-6889-01 | exon_skip_376502 | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.P483fs |
| LUSC | TCGA-22-1002-01 | exon_skip_376502 | 108363011 | 108363628 | 108363259 | 108363259 | Nonsense_Mutation | C | T | p.Q464* |
| LIHC | TCGA-CC-A5UC-01 | exon_skip_376502 | 108363011 | 108363628 | 108363329 | 108363329 | Nonsense_Mutation | G | A | p.W487* |
| BLCA | TCGA-ZF-A9RN-01 | exon_skip_376502 | 108363011 | 108363628 | 108363559 | 108363559 | Nonsense_Mutation | C | T | p.Q564* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_376504 | 108365464 | 108365496 | 108365497 | 108365497 | Splice_Site | G | A | e14+1 |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 108363011 | 108363628 | 108363562 | 108363565 | Frame_Shift_Del | CTAT | - | p.LS565fs |
| NCIH1688_LUNG | 108405292 | 108405431 | 108405322 | 108405322 | Frame_Shift_Del | C | - | p.P1014fs |
| 253JBV_URINARY_TRACT | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| 639V_URINARY_TRACT | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| CAL51_BREAST | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| CAL62_THYROID | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| CAOV3_OVARY | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| EPLC272H_LUNG | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| H4_CENTRAL_NERVOUS_SYSTEM | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| HMCB_SKIN | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| HOP62_LUNG | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| HS737T_FIBROBLAST | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| HUH28_BILIARY_TRACT | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| LN18_CENTRAL_NERVOUS_SYSTEM | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| NCIH2004RT_SOFT_TISSUE | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| NCIH1693_LUNG | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| SF126_CENTRAL_NERVOUS_SYSTEM | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| SKLU1_LUNG | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| SNU475_LIVER | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| TT_OESOPHAGUS | 108363011 | 108363628 | 108363318 | 108363319 | Frame_Shift_Ins | - | A | p.K484fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 108363011 | 108363628 | 108363570 | 108363571 | Frame_Shift_Ins | - | CATT | p.Y568fs |
| CW2_LARGE_INTESTINE | 108363011 | 108363628 | 108363019 | 108363019 | Missense_Mutation | C | G | p.P384A |
| EN_ENDOMETRIUM | 108363011 | 108363628 | 108363020 | 108363020 | Missense_Mutation | C | A | p.P384H |
| HCC2998_LARGE_INTESTINE | 108363011 | 108363628 | 108363095 | 108363095 | Missense_Mutation | G | A | p.R409Q |
| LS411N_LARGE_INTESTINE | 108363011 | 108363628 | 108363160 | 108363160 | Missense_Mutation | G | A | p.V431M |
| CP67MEL_SKIN | 108363011 | 108363628 | 108363226 | 108363226 | Missense_Mutation | T | A | p.Y453N |
| IGR1_SKIN | 108363011 | 108363628 | 108363307 | 108363307 | Missense_Mutation | T | C | p.F480L |
| LS180_LARGE_INTESTINE | 108363011 | 108363628 | 108363623 | 108363623 | Missense_Mutation | A | G | p.Q585R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 108365464 | 108365496 | 108365469 | 108365469 | Missense_Mutation | G | A | p.A589T |
| NCIH2887_LUNG | 108388528 | 108388596 | 108388555 | 108388555 | Missense_Mutation | T | G | p.D817E |
| M14_SKIN | 108388528 | 108388596 | 108388572 | 108388573 | Missense_Mutation | TT | CG | p.L823P |
| MDAMB435S_SKIN | 108388528 | 108388596 | 108388572 | 108388572 | Missense_Mutation | T | C | p.L823P |
| HEPG2_LIVER | 108405292 | 108405431 | 108405304 | 108405304 | Missense_Mutation | G | C | p.A1008P |
| C3A_LIVER | 108405292 | 108405431 | 108405304 | 108405304 | Missense_Mutation | G | C | p.A1008P |
| LOVO_LARGE_INTESTINE | 108405292 | 108405431 | 108405323 | 108405323 | Missense_Mutation | C | A | p.P1014H |
| S117_SOFT_TISSUE | 108363011 | 108363628 | 108363245 | 108363245 | Nonsense_Mutation | T | G | p.L459* |
| OVCAR8_OVARY | 108363011 | 108363628 | 108363452 | 108363452 | Nonsense_Mutation | C | G | p.S528* |
| HCC2998_LARGE_INTESTINE | 108388528 | 108388596 | 108388577 | 108388577 | Nonsense_Mutation | G | T | p.E825* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DZIP3 |
| 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_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENST00000497905.1 | COAD | rs9856626 | chr3:108322082 | G/C | 2.05e-03 |
| exon_skip_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENST00000497905.1 | COAD | rs9856626 | chr3:108322082 | G/C | 2.06e-03 |
| exon_skip_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENST00000497905.1 | LUAD | rs9856626 | chr3:108322082 | G/C | 1.33e-03 |
| exon_skip_376501 | 3 | 108321697:108321754:108321865:108322081:108324181:108324285 | 108321865:108322081 | ENST00000497905.1 | LUAD | rs9856626 | chr3:108322082 | G/C | 1.33e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DZIP3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DZIP3 |
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RelatedDrugs for DZIP3 |
| 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 DZIP3 |
| 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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