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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 ZBP1 |
 Gene summary |
| Gene information | Gene symbol | ZBP1 | Gene ID | 81030 |
| Gene name | Z-DNA binding protein 1 | |
| Synonyms | C20orf183|DAI|DLM-1|DLM1 | |
| Cytomap | 20q13.31 | |
| Type of gene | protein-coding | |
| Description | Z-DNA-binding protein 1DNA-dependent activator of IRFstumor stroma and activated macrophage protein DLM-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H171 | |
| Context | PubMed: ZBP1 [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 ZBP1 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 ZBP1 |
| 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 ZBP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358277 | 20 | 56185204:56185423:56185588:56185751:56186782:56186986 | 56185588:56185751 | ENSG00000124256.10 | ENST00000461547.1 |
| exon_skip_358280 | 20 | 56185204:56185423:56186782:56186986:56188218:56188386 | 56186782:56186986 | ENSG00000124256.10 | ENST00000343535.4,ENST00000371173.3,ENST00000340462.4,ENST00000395822.3 |
| exon_skip_358285 | 20 | 56189942:56190116:56190567:56190636:56191299:56191524 | 56190567:56190636 | ENSG00000124256.10 | ENST00000343535.4,ENST00000538947.1,ENST00000371173.3,ENST00000541799.1 |
| exon_skip_358287 | 20 | 56190567:56190636:56191299:56191524:56195274:56195534 | 56191299:56191524 | ENSG00000124256.10 | ENST00000538947.1 |
| exon_skip_358288 | 20 | 56190567:56190636:56191299:56191524:56195317:56195450 | 56191299:56191524 | ENSG00000124256.10 | ENST00000343535.4,ENST00000432548.2,ENST00000541799.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZBP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358277 | 20 | 56185204:56185423:56185588:56185751:56186782:56186986 | 56185588:56185751 | ENSG00000124256.10 | ENST00000461547.1 |
| exon_skip_358280 | 20 | 56185204:56185423:56186782:56186986:56188218:56188386 | 56186782:56186986 | ENSG00000124256.10 | ENST00000371173.3,ENST00000395822.3,ENST00000340462.4,ENST00000343535.4 |
| exon_skip_358287 | 20 | 56190567:56190636:56191299:56191524:56195274:56195534 | 56191299:56191524 | ENSG00000124256.10 | ENST00000538947.1 |
| exon_skip_358288 | 20 | 56190567:56190636:56191299:56191524:56195317:56195450 | 56191299:56191524 | ENSG00000124256.10 | ENST00000343535.4,ENST00000541799.1,ENST00000432548.2 |
| 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 ZBP1 |
| 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 |
| ENST00000371173 | 56186782 | 56186986 | In-frame |
| ENST00000371173 | 56190567 | 56190636 | 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 |
| ENST00000371173 | 56186782 | 56186986 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZBP1 |
| 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 |
| ENST00000371173 | 2212 | 429 | 56190567 | 56190636 | 438 | 506 | 86 | 109 |
| ENST00000371173 | 2212 | 429 | 56186782 | 56186986 | 849 | 1052 | 223 | 291 |
| 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 |
| ENST00000371173 | 2212 | 429 | 56186782 | 56186986 | 849 | 1052 | 223 | 291 |
| 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 |
| Q9H171 | 86 | 109 | 12 | 86 | Alternative sequence | ID=VSP_046081;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9H171 | 86 | 109 | 87 | 149 | Alternative sequence | ID=VSP_004079;Note=In isoform 5. AERPQQHAATIPETPGPQFSQQREEDIYRFLKDNGPQRALVIAQALGMRTAKDVNRDLYRMKS->GNCHPGEAGLTLQGASWQWTSTDLSLGSNLNSATWELTGFLSLCLGFFFWLMELTAGLLGRGC;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H171 | 86 | 109 | 87 | 109 | Alternative sequence | ID=VSP_004078;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9H171 | 86 | 109 | 1 | 429 | Chain | ID=PRO_0000066564;Note=Z-DNA-binding protein 1 |
| Q9H171 | 86 | 109 | 108 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3EYI |
| Q9H171 | 86 | 109 | 88 | 88 | Natural variant | ID=VAR_014316;Note=E->K;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11842111,ECO:0000269|Ref.2;Dbxref=dbSNP:rs2073145,PMID:11842111 |
| Q9H171 | 86 | 109 | 103 | 168 | Repeat | Note=DRADA 2 |
| Q9H171 | 223 | 291 | 150 | 429 | Alternative sequence | ID=VSP_004080;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H171 | 223 | 291 | 225 | 248 | Alternative sequence | ID=VSP_045405;Note=In isoform 6. SAGPRHLPSMAPGDSSTWGTLVDP->KSPKRAQGGDLGGEPPDPLGGGKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H171 | 223 | 291 | 249 | 429 | Alternative sequence | ID=VSP_045406;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H171 | 223 | 291 | 1 | 429 | Chain | ID=PRO_0000066564;Note=Z-DNA-binding protein 1 |
| Q9H171 | 223 | 291 | 253 | 277 | Motif | Note=RIP homotypic interaction motif (RHIM) 2 |
| Q9H171 | 223 | 291 | 258 | 258 | Natural variant | ID=VAR_069138;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11842111,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.5;Dbxref=dbSNP:rs2865394,PMID:11842111,PMID:14702039 |
| 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 |
| Q9H171 | 223 | 291 | 150 | 429 | Alternative sequence | ID=VSP_004080;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9H171 | 223 | 291 | 225 | 248 | Alternative sequence | ID=VSP_045405;Note=In isoform 6. SAGPRHLPSMAPGDSSTWGTLVDP->KSPKRAQGGDLGGEPPDPLGGGKG;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H171 | 223 | 291 | 249 | 429 | Alternative sequence | ID=VSP_045406;Note=In isoform 6. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.2 |
| Q9H171 | 223 | 291 | 1 | 429 | Chain | ID=PRO_0000066564;Note=Z-DNA-binding protein 1 |
| Q9H171 | 223 | 291 | 253 | 277 | Motif | Note=RIP homotypic interaction motif (RHIM) 2 |
| Q9H171 | 223 | 291 | 258 | 258 | Natural variant | ID=VAR_069138;Note=Q->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11842111,ECO:0000269|PubMed:14702039,ECO:0000269|Ref.5;Dbxref=dbSNP:rs2865394,PMID:11842111,PMID:14702039 |
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SNVs in the skipped exons for ZBP1 |
| - 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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358280 | 56186783 | 56186986 | 56186797 | 56186797 | Frame_Shift_Del | G | - | p.P264fs |
| SKCM | TCGA-EE-A181-06 | exon_skip_358280 | 56186783 | 56186986 | 56186960 | 56186960 | Frame_Shift_Del | A | - | p.S210fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358285 | 56190568 | 56190636 | 56190594 | 56190594 | Frame_Shift_Del | G | - | p.P101fs |
| LIHC | TCGA-DD-A39Y-01 | 56191300 | 56191524 | 56191434 | 56191434 | Frame_Shift_Del | T | - | p.K42fs | |
| LIHC | TCGA-DD-A1EG-01 | 56191300 | 56191524 | 56191476 | 56191476 | Frame_Shift_Del | G | - | p.P28fs | |
| LIHC | TCGA-G3-A3CJ-01 | 56191300 | 56191524 | 56191476 | 56191476 | Frame_Shift_Del | G | - | p.P28fs | |
| HNSC | TCGA-UF-A7J9-01 | exon_skip_358280 | 56186783 | 56186986 | 56186819 | 56186819 | Nonsense_Mutation | C | A | p.E257* |
| STAD | TCGA-BR-7707-01 | 56191300 | 56191524 | 56191408 | 56191408 | Nonsense_Mutation | G | A | p.R51* | |
| STAD | TCGA-BR-7707-01 | 56191300 | 56191524 | 56191408 | 56191408 | Nonsense_Mutation | G | A | p.R51X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-7707-01 |
| Cancer type: STAD | |
| ESID: | |
| Skipped exon start: 56191300 | |
| Skipped exon end: 56191524 | |
| Mutation start: 56191408 | |
| Mutation end: 56191408 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R51X | |
| Sample: TCGA-BR-7707-01 |
| Cancer type: STAD | |
| ESID: | |
| Skipped exon start: 56191300 | |
| Skipped exon end: 56191524 | |
| Mutation start: 56191408 | |
| Mutation end: 56191408 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R51* | |
exon_skip_107867_STAD_TCGA-BR-7707-01.png | |
exon_skip_133403_STAD_TCGA-BR-7707-01.png | |
exon_skip_138373_STAD_TCGA-BR-7707-01.png | |
exon_skip_143275_STAD_TCGA-BR-7707-01.png | |
exon_skip_149455_STAD_TCGA-BR-7707-01.png | |
exon_skip_333295_STAD_TCGA-BR-7707-01.png | |
exon_skip_333833_STAD_TCGA-BR-7707-01.png | |
exon_skip_358288_STAD_TCGA-BR-7707-01.png | |
exon_skip_456871_STAD_TCGA-BR-7707-01.png | |
exon_skip_461351_STAD_TCGA-BR-7707-01.png | |
exon_skip_464232_STAD_TCGA-BR-7707-01.png | |
exon_skip_48394_STAD_TCGA-BR-7707-01.png | |
exon_skip_82386_STAD_TCGA-BR-7707-01.png | |
exon_skip_82432_STAD_TCGA-BR-7707-01.png | |
exon_skip_82433_STAD_TCGA-BR-7707-01.png | |
exon_skip_86786_STAD_TCGA-BR-7707-01.png | |
| - 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 |
| SKMEL2_SKIN | 56186783 | 56186986 | 56186797 | 56186797 | Frame_Shift_Del | G | - | p.P287fs |
| CW2_LARGE_INTESTINE | 56186783 | 56186986 | 56186797 | 56186797 | Frame_Shift_Del | G | - | p.P287fs |
| SNU324_PANCREAS | 56186783 | 56186986 | 56186903 | 56186903 | Frame_Shift_Del | G | - | p.Q252fs |
| SW13_ADRENAL_CORTEX | 56191300 | 56191524 | 56191369 | 56191369 | Frame_Shift_Del | C | - | p.A64fs |
| ACCMESO1_PLEURA | 56186783 | 56186986 | 56186824 | 56186824 | Missense_Mutation | G | A | p.P278L |
| A431_SKIN | 56186783 | 56186986 | 56186881 | 56186881 | Missense_Mutation | G | A | p.S259F |
| OSC20_UPPER_AERODIGESTIVE_TRACT | 56186783 | 56186986 | 56186909 | 56186909 | Missense_Mutation | C | T | p.G250R |
| GAMG_CENTRAL_NERVOUS_SYSTEM | 56186783 | 56186986 | 56186972 | 56186972 | Missense_Mutation | G | A | p.R229C |
| BECKER_CENTRAL_NERVOUS_SYSTEM | 56186783 | 56186986 | 56186972 | 56186972 | Missense_Mutation | G | T | p.R229S |
| KYAE1_OESOPHAGUS | 56190568 | 56190636 | 56190574 | 56190574 | Missense_Mutation | G | T | p.Q108K |
| HKA1_SKIN | 56190568 | 56190636 | 56190619 | 56190619 | Missense_Mutation | G | A | p.H93Y |
| A375_SKIN | 56191300 | 56191524 | 56191342 | 56191342 | Missense_Mutation | G | A | p.P73S |
| NCIH1339_LUNG | 56191300 | 56191524 | 56191350 | 56191350 | Missense_Mutation | C | A | p.G70V |
| MEWO_SKIN | 56191300 | 56191524 | 56191350 | 56191350 | Missense_Mutation | C | T | p.G70E |
| CALU3_LUNG | 56191300 | 56191524 | 56191377 | 56191377 | Missense_Mutation | G | T | p.T61K |
| SNU398_LIVER | 56191300 | 56191524 | 56191417 | 56191417 | Missense_Mutation | C | A | p.V48F |
| CW2_LARGE_INTESTINE | 56191300 | 56191524 | 56191433 | 56191433 | Missense_Mutation | C | A | p.K42N |
| NCIH1299_LUNG | 56191300 | 56191524 | 56191505 | 56191505 | Missense_Mutation | G | C | p.I18M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZBP1 |
| 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_358285 | 20 | 56189942:56190116:56190567:56190636:56191299:56191524 | 56190567:56190636 | ENST00000343535.4,ENST00000538947.1,ENST00000371173.3,ENST00000541799.1 | BLCA | rs2073145 | chr20:56190634 | A/G | 1.82e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZBP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZBP1 |
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RelatedDrugs for ZBP1 |
| 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 ZBP1 |
| 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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