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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 ZNF330 |
 Gene summary |
| Gene information | Gene symbol | ZNF330 | Gene ID | 27309 |
| Gene name | zinc finger protein 330 | |
| Synonyms | HSA6591|NOA36 | |
| Cytomap | 4q31.21 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 330nucleolar autoantigen 36nucleolar cysteine-rich proteinzinc finger autoantigen 330 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y3S2 | |
| Context | PubMed: ZNF330 [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 ZNF330 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 ZNF330 |
| 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 ZNF330 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_426272 | 4 | 142142083:142142170:142143519:142143645:142145640:142145660 | 142143519:142143645 | ENSG00000109445.6 | ENST00000512738.1 |
| exon_skip_426273 | 4 | 142142087:142142262:142143519:142143631:142145640:142145660 | 142143519:142143631 | ENSG00000109445.6 | ENST00000507532.1 |
| exon_skip_426274 | 4 | 142142087:142142262:142143519:142143645:142145640:142145660 | 142143519:142143645 | ENSG00000109445.6 | ENST00000421169.2,ENST00000262990.4,ENST00000506302.1 |
| exon_skip_426281 | 4 | 142145640:142145660:142145760:142145831:142147920:142147997 | 142145760:142145831 | ENSG00000109445.6 | ENST00000503649.1,ENST00000512809.1,ENST00000262990.4,ENST00000507532.1,ENST00000512738.1 |
| exon_skip_426283 | 4 | 142147920:142148000:142150724:142150851:142151319:142151360 | 142150724:142150851 | ENSG00000109445.6 | ENST00000421169.2,ENST00000512809.1,ENST00000262990.4,ENST00000507532.1,ENST00000512738.1,ENST00000506302.1 |
| exon_skip_426288 | 4 | 142150724:142150851:142151319:142151424:142152592:142152639 | 142151319:142151424 | ENSG00000109445.6 | ENST00000421169.2,ENST00000512809.1,ENST00000262990.4,ENST00000507532.1,ENST00000506302.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF330 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_426272 | 4 | 142142083:142142170:142143519:142143645:142145640:142145660 | 142143519:142143645 | ENSG00000109445.6 | ENST00000512738.1 |
| exon_skip_426273 | 4 | 142142087:142142262:142143519:142143631:142145640:142145660 | 142143519:142143631 | ENSG00000109445.6 | ENST00000507532.1 |
| exon_skip_426274 | 4 | 142142087:142142262:142143519:142143645:142145640:142145660 | 142143519:142143645 | ENSG00000109445.6 | ENST00000262990.4,ENST00000506302.1,ENST00000421169.2 |
| exon_skip_426278 | 4 | 142143519:142143645:142145640:142145660:142147920:142148000 | 142145640:142145660 | ENSG00000109445.6 | ENST00000506302.1,ENST00000421169.2 |
| exon_skip_426281 | 4 | 142145640:142145660:142145760:142145831:142147920:142147997 | 142145760:142145831 | ENSG00000109445.6 | ENST00000262990.4,ENST00000507532.1,ENST00000512809.1,ENST00000503649.1,ENST00000512738.1 |
| exon_skip_426283 | 4 | 142147920:142148000:142150724:142150851:142151319:142151360 | 142150724:142150851 | ENSG00000109445.6 | ENST00000262990.4,ENST00000507532.1,ENST00000512809.1,ENST00000512738.1,ENST00000506302.1,ENST00000421169.2 |
| exon_skip_426288 | 4 | 142150724:142150851:142151319:142151424:142152592:142152639 | 142151319:142151424 | ENSG00000109445.6 | ENST00000262990.4,ENST00000507532.1,ENST00000512809.1,ENST00000506302.1,ENST00000421169.2 |
| 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 ZNF330 |
| 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 |
| ENST00000262990 | 142143519 | 142143645 | 5CDS-5UTR |
| ENST00000262990 | 142145760 | 142145831 | Frame-shift |
| ENST00000262990 | 142150724 | 142150851 | Frame-shift |
| ENST00000262990 | 142151319 | 142151424 | 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 |
| ENST00000262990 | 142143519 | 142143645 | 5CDS-5UTR |
| ENST00000262990 | 142145760 | 142145831 | Frame-shift |
| ENST00000262990 | 142150724 | 142150851 | Frame-shift |
| ENST00000262990 | 142151319 | 142151424 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZNF330 |
| 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 |
| ENST00000262990 | 1916 | 320 | 142151319 | 142151424 | 647 | 751 | 139 | 174 |
| 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 |
| ENST00000262990 | 1916 | 320 | 142151319 | 142151424 | 647 | 751 | 139 | 174 |
| 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 |
| Q9Y3S2 | 139 | 174 | 1 | 320 | Chain | ID=PRO_0000066590;Note=Zinc finger protein 330 |
| Q9Y3S2 | 139 | 174 | 129 | 149 | Zinc finger | Note=C4-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9Y3S2 | 139 | 174 | 1 | 320 | Chain | ID=PRO_0000066590;Note=Zinc finger protein 330 |
| Q9Y3S2 | 139 | 174 | 129 | 149 | Zinc finger | Note=C4-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for ZNF330 |
| - 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 |
| COAD | TCGA-AY-6197-01 | exon_skip_426273 | 142143520 | 142143631 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.P2fs |
| COAD | TCGA-AY-6197-01 | exon_skip_426274 exon_skip_426272 | 142143520 | 142143645 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.P2fs |
| LUAD | TCGA-86-8055-01 | exon_skip_426273 | 142143520 | 142143631 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.K5fs |
| LUAD | TCGA-86-8055-01 | exon_skip_426274 exon_skip_426272 | 142143520 | 142143645 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.K5fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_426273 | 142143520 | 142143631 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.K3fs |
| UCEC | TCGA-BS-A0TA-01 | exon_skip_426274 exon_skip_426272 | 142143520 | 142143645 | 142143532 | 142143532 | Frame_Shift_Del | A | - | p.K3fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_426281 | 142145761 | 142145831 | 142145807 | 142145807 | Frame_Shift_Del | A | - | p.K63fs |
| COAD | TCGA-A6-5661-01 | exon_skip_426273 | 142143520 | 142143631 | 142143531 | 142143532 | Frame_Shift_Ins | - | A | p.P2fs |
| COAD | TCGA-A6-5661-01 | exon_skip_426274 exon_skip_426272 | 142143520 | 142143645 | 142143531 | 142143532 | Frame_Shift_Ins | - | A | p.P2fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_426273 | 142143520 | 142143631 | 142143531 | 142143532 | Frame_Shift_Ins | - | A | p.PK2fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_426274 exon_skip_426272 | 142143520 | 142143645 | 142143531 | 142143532 | Frame_Shift_Ins | - | A | p.PK2fs |
| BRCA | TCGA-E9-A1RG-01 | exon_skip_426283 | 142150725 | 142150851 | 142150852 | 142150852 | Splice_Site | G | T | e5+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 |
| COLO684_ENDOMETRIUM | 142143520 | 142143645 | 142143572 | 142143579 | Frame_Shift_Del | GAGAACGT | - | p.RER16fs |
| COLO684_ENDOMETRIUM | 142143520 | 142143631 | 142143572 | 142143579 | Frame_Shift_Del | GAGAACGT | - | p.RER16fs |
| LS411N_LARGE_INTESTINE | 142143520 | 142143645 | 142143580 | 142143581 | Frame_Shift_Ins | - | A | p.E19fs |
| LS411N_LARGE_INTESTINE | 142143520 | 142143631 | 142143580 | 142143581 | Frame_Shift_Ins | - | A | p.E19fs |
| RKO_LARGE_INTESTINE | 142143520 | 142143645 | 142143542 | 142143542 | Missense_Mutation | C | G | p.T6S |
| RKO_LARGE_INTESTINE | 142143520 | 142143631 | 142143542 | 142143542 | Missense_Mutation | C | G | p.T6S |
| NB7_AUTONOMIC_GANGLIA | 142143520 | 142143645 | 142143567 | 142143567 | Missense_Mutation | C | A | p.N14K |
| NB7_AUTONOMIC_GANGLIA | 142143520 | 142143631 | 142143567 | 142143567 | Missense_Mutation | C | A | p.N14K |
| OC316_OVARY | 142150725 | 142150851 | 142150795 | 142150795 | Missense_Mutation | C | T | p.A121V |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 142150725 | 142150851 | 142150839 | 142150839 | Missense_Mutation | G | A | p.V136M |
| HEC151_ENDOMETRIUM | 142151320 | 142151424 | 142151341 | 142151341 | Missense_Mutation | C | A | p.S147Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF330 |
| 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 ZNF330 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF330 |
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RelatedDrugs for ZNF330 |
| 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 ZNF330 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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