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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 ZNF480 |
 Gene summary |
| Gene information | Gene symbol | ZNF480 | Gene ID | 147657 |
| Gene name | zinc finger protein 480 | |
| Synonyms | - | |
| Cytomap | 19q13.41 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 480 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WV37 | |
| Context | PubMed: ZNF480 [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 ZNF480 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 ZNF480 |
| 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 ZNF480 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_310981 | 19 | 52800431:52800476:52803646:52803737:52817405:52817532 | 52803646:52803737 | ENSG00000198464.9 | ENST00000334564.7,ENST00000595962.1,ENST00000598016.1 |
| exon_skip_310986 | 19 | 52803646:52803737:52817405:52817532:52819086:52819215 | 52817405:52817532 | ENSG00000198464.9 | ENST00000595962.1,ENST00000598016.1,ENST00000468240.2 |
| exon_skip_310987 | 19 | 52803646:52803737:52817405:52817532:52824831:52824900 | 52817405:52817532 | ENSG00000198464.9 | ENST00000334564.7 |
| exon_skip_310990 | 19 | 52803646:52803737:52819086:52819215:52824831:52824900 | 52819086:52819215 | ENSG00000198464.9 | ENST00000335090.6 |
| exon_skip_310991 | 19 | 52817405:52817532:52819086:52819215:52824831:52824900 | 52819086:52819215 | ENSG00000198464.9 | ENST00000595962.1,ENST00000468240.2 |
| exon_skip_310993 | 19 | 52819086:52819215:52820668:52820766:52824831:52824900 | 52820668:52820766 | ENSG00000198464.9 | ENST00000598016.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF480 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_310981 | 19 | 52800431:52800476:52803646:52803737:52817405:52817532 | 52803646:52803737 | ENSG00000198464.9 | ENST00000595962.1,ENST00000598016.1,ENST00000334564.7 |
| exon_skip_310986 | 19 | 52803646:52803737:52817405:52817532:52819086:52819215 | 52817405:52817532 | ENSG00000198464.9 | ENST00000468240.2,ENST00000595962.1,ENST00000598016.1 |
| exon_skip_310987 | 19 | 52803646:52803737:52817405:52817532:52824831:52824900 | 52817405:52817532 | ENSG00000198464.9 | ENST00000334564.7 |
| exon_skip_310990 | 19 | 52803646:52803737:52819086:52819215:52824831:52824900 | 52819086:52819215 | ENSG00000198464.9 | ENST00000335090.6 |
| exon_skip_310991 | 19 | 52817405:52817532:52819086:52819215:52824831:52824900 | 52819086:52819215 | ENSG00000198464.9 | ENST00000468240.2,ENST00000595962.1 |
| exon_skip_310993 | 19 | 52819086:52819215:52820668:52820766:52824831:52824900 | 52820668:52820766 | ENSG00000198464.9 | ENST00000598016.1 |
| 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 ZNF480 |
| 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 |
| ENST00000595962 | 52803646 | 52803737 | 5CDS-5UTR |
| ENST00000595962 | 52817405 | 52817532 | Frame-shift |
| ENST00000595962 | 52819086 | 52819215 | 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 |
| ENST00000595962 | 52803646 | 52803737 | 5CDS-5UTR |
| ENST00000595962 | 52817405 | 52817532 | Frame-shift |
| ENST00000595962 | 52819086 | 52819215 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZNF480 |
| 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 |
| ENST00000595962 | 4755 | 535 | 52819086 | 52819215 | 266 | 394 | 66 | 109 |
| 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 |
| ENST00000595962 | 4755 | 535 | 52819086 | 52819215 | 266 | 394 | 66 | 109 |
| 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 |
| Q8WV37 | 66 | 109 | 1 | 169 | Alternative sequence | ID=VSP_016215;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WV37 | 66 | 109 | 1 | 77 | Alternative sequence | ID=VSP_016214;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WV37 | 66 | 109 | 1 | 535 | Chain | ID=PRO_0000047607;Note=Zinc finger protein 480 |
| Q8WV37 | 66 | 109 | 27 | 98 | Domain | Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 |
| 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 |
| Q8WV37 | 66 | 109 | 1 | 169 | Alternative sequence | ID=VSP_016215;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8WV37 | 66 | 109 | 1 | 77 | Alternative sequence | ID=VSP_016214;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005 |
| Q8WV37 | 66 | 109 | 1 | 535 | Chain | ID=PRO_0000047607;Note=Zinc finger protein 480 |
| Q8WV37 | 66 | 109 | 27 | 98 | Domain | Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 |
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SNVs in the skipped exons for ZNF480 |
| - 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-G3-A3CJ-01 | exon_skip_310986 exon_skip_310987 | 52817406 | 52817532 | 52817422 | 52817422 | Frame_Shift_Del | G | - | p.R30fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_310991 exon_skip_310990 | 52819087 | 52819215 | 52819132 | 52819132 | Frame_Shift_Del | G | - | p.R83fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_310991 exon_skip_310990 | 52819087 | 52819215 | 52819135 | 52819135 | Frame_Shift_Del | G | - | p.R83fs |
| LUAD | TCGA-78-7542-01 | exon_skip_310986 exon_skip_310987 | 52817406 | 52817532 | 52817532 | 52817532 | Nonsense_Mutation | G | T | p.G67* |
| PAAD | TCGA-IB-7651-01 | exon_skip_310991 exon_skip_310990 | 52819087 | 52819215 | 52819145 | 52819145 | Nonsense_Mutation | G | A | p.W86* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_310981 | 52803647 | 52803737 | 52803646 | 52803646 | Splice_Site | G | T | e1-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-78-7542-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_310987 | |
| Skipped exon start: 52817406 | |
| Skipped exon end: 52817532 | |
| Mutation start: 52817532 | |
| Mutation end: 52817532 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.G67* | |
exon_skip_298048_LUAD_TCGA-78-7542-01.png | |
exon_skip_298052_LUAD_TCGA-78-7542-01.png | |
exon_skip_310986_LUAD_TCGA-78-7542-01.png | |
exon_skip_310987_LUAD_TCGA-78-7542-01.png | |
exon_skip_334736_LUAD_TCGA-78-7542-01.png | |
 | Sample: TCGA-78-7542-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_310987 | |
| Skipped exon start: 52817406 | |
| Skipped exon end: 52817532 | |
| Mutation start: 52817532 | |
| Mutation end: 52817532 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.G67* | |
| exon_skip_298048_LUAD_TCGA-78-7542-01.png | |
| exon_skip_298052_LUAD_TCGA-78-7542-01.png | |
| exon_skip_310986_LUAD_TCGA-78-7542-01.png | |
| exon_skip_310987_LUAD_TCGA-78-7542-01.png | |
| exon_skip_334736_LUAD_TCGA-78-7542-01.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 |
| HEC6_ENDOMETRIUM | 52819087 | 52819215 | 52819171 | 52819172 | Frame_Shift_Ins | - | A | p.AK95fs |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52819087 | 52819215 | 52819171 | 52819172 | Frame_Shift_Ins | - | A | p.AK95fs |
| NCIH854_LUNG | 52819087 | 52819215 | 52819171 | 52819172 | Frame_Shift_Ins | - | A | p.AK95fs |
| T3M10_LUNG | 52819087 | 52819215 | 52819171 | 52819172 | Frame_Shift_Ins | - | A | p.AK95fs |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52817406 | 52817532 | 52817434 | 52817434 | Missense_Mutation | T | C | p.I34T |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52817406 | 52817532 | 52817435 | 52817435 | Missense_Mutation | A | G | p.I34M |
| HEC1_ENDOMETRIUM | 52817406 | 52817532 | 52817521 | 52817521 | Missense_Mutation | T | C | p.L63P |
| HEC251_ENDOMETRIUM | 52819087 | 52819215 | 52819180 | 52819180 | Nonsense_Mutation | C | A | p.S98* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF480 |
| 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 ZNF480 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF480 |
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RelatedDrugs for ZNF480 |
| 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 ZNF480 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZNF480 | C0036341 | Schizophrenia | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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