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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 ZNF430 |
Gene summary |
| Gene information | Gene symbol | ZNF430 | Gene ID | 80264 |
| Gene name | zinc finger protein 430 | |
| Synonyms | - | |
| Cytomap | 19p12 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 430 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9H8G1 | |
| Context | PubMed: ZNF430 [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 ZNF430 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 ZNF430 |
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 ZNF430 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304405 | 19 | 21203522:21203609:21205594:21205687:21216261:21216388 | 21205594:21205687 | ENSG00000118620.8 | ENST00000599548.1,ENST00000595833.1,ENST00000594110.1,ENST00000595401.1 |
| exon_skip_304407 | 19 | 21205594:21205687:21216261:21216388:21216891:21216990 | 21216261:21216388 | ENSG00000118620.8 | ENST00000599548.1,ENST00000261560.5,ENST00000594110.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF430 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304405 | 19 | 21203522:21203609:21205594:21205687:21216261:21216388 | 21205594:21205687 | ENSG00000118620.8 | ENST00000599548.1,ENST00000594110.1,ENST00000595833.1,ENST00000595401.1 |
| exon_skip_304407 | 19 | 21205594:21205687:21216261:21216388:21216891:21216990 | 21216261:21216388 | ENSG00000118620.8 | ENST00000261560.5,ENST00000599548.1,ENST00000594110.1 |
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 ZNF430 |
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 |
| ENST00000261560 | 21216261 | 21216388 | Frame-shift |
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 |
| ENST00000261560 | 21216261 | 21216388 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZNF430 |
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 |
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 |
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 ZNF430 |
- 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 |
| LUSC | TCGA-66-2734-01 | exon_skip_304405 | 21205595 | 21205687 | 21205610 | 21205610 | Nonsense_Mutation | G | T | p.G7* |
| HNSC | TCGA-BA-6869-01 | exon_skip_304405 | 21205595 | 21205687 | 21205625 | 21205625 | Nonsense_Mutation | A | T | p.K12* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_304407 | 21216262 | 21216388 | 21216292 | 21216292 | Nonsense_Mutation | G | T | p.E43* |
| LIHC | TCGA-DD-A4NS-01 | exon_skip_304407 | 21216262 | 21216388 | 21216304 | 21216304 | Nonsense_Mutation | G | T | p.E47* |
| LIHC | TCGA-DD-A4NS-01 | exon_skip_304407 | 21216262 | 21216388 | 21216304 | 21216304 | Nonsense_Mutation | G | T | p.E47X |
| LUAD | TCGA-64-1679-01 | exon_skip_304407 | 21216262 | 21216388 | 21216307 | 21216307 | Nonsense_Mutation | G | T | p.E48* |
- 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 |
| HEC251_ENDOMETRIUM | 21205595 | 21205687 | 21205597 | 21205597 | Missense_Mutation | G | T | p.E2D |
| MDAMB157_BREAST | 21205595 | 21205687 | 21205607 | 21205607 | Missense_Mutation | T | C | p.S6P |
| MFE296_ENDOMETRIUM | 21216262 | 21216388 | 21216274 | 21216274 | Missense_Mutation | T | C | p.F37L |
| HMC18_BREAST | 21216262 | 21216388 | 21216342 | 21216342 | Missense_Mutation | G | C | p.L59F |
| PATU8902_PANCREAS | 21216262 | 21216388 | 21216362 | 21216362 | Missense_Mutation | A | G | p.E66G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF430 |
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 ZNF430 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF430 |
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RelatedDrugs for ZNF430 |
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 ZNF430 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ZNF430 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |