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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 ZNF254 |
 Gene summary |
| Gene information | Gene symbol | ZNF254 | Gene ID | 9534 |
| Gene name | zinc finger protein 254 | |
| Synonyms | BMZF-5|HD-ZNF1|ZNF539|ZNF91L | |
| Cytomap | 19p12 | |
| Type of gene | protein-coding | |
| Description | zinc finger protein 254CTD-2017D11.1bone marrow zinc finger 5hematopoietic cell-derived zinc finger protein 1zinc finger protein 539 | |
| Modification date | 20180522 | |
| UniProtAcc | O75437 | |
| Context | PubMed: ZNF254 [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 ZNF254 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 ZNF254 |
| 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 ZNF254 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304668 | 19 | 24270054:24270139:24274702:24274817:24286548:24286669 | 24274702:24274817 | ENSG00000213096.5 | ENST00000595187.1 |
| exon_skip_304669 | 19 | 24270054:24270139:24274702:24274817:24288741:24288868 | 24274702:24274817 | ENSG00000213096.5 | ENST00000594886.1 |
| exon_skip_304673 | 19 | 24270054:24270139:24288741:24288868:24289349:24289445 | 24288741:24288868 | ENSG00000213096.5 | ENST00000339642.6,ENST00000357002.4 |
| exon_skip_304676 | 19 | 24274702:24274817:24286548:24286669:24288741:24288868 | 24286548:24286669 | ENSG00000213096.5 | ENST00000595187.1 |
| exon_skip_304678 | 19 | 24274702:24274817:24288741:24288868:24289349:24289445 | 24288741:24288868 | ENSG00000213096.5 | ENST00000594886.1 |
| exon_skip_304681 | 19 | 24288741:24288868:24289349:24289445:24309055:24309122 | 24289349:24289445 | ENSG00000213096.5 | ENST00000594886.1,ENST00000595187.1,ENST00000357002.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF254 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_304668 | 19 | 24270054:24270139:24274702:24274817:24286548:24286669 | 24274702:24274817 | ENSG00000213096.5 | ENST00000595187.1 |
| exon_skip_304669 | 19 | 24270054:24270139:24274702:24274817:24288741:24288868 | 24274702:24274817 | ENSG00000213096.5 | ENST00000594886.1 |
| exon_skip_304673 | 19 | 24270054:24270139:24288741:24288868:24289349:24289445 | 24288741:24288868 | ENSG00000213096.5 | ENST00000339642.6,ENST00000357002.4 |
| exon_skip_304676 | 19 | 24274702:24274817:24286548:24286669:24288741:24288868 | 24286548:24286669 | ENSG00000213096.5 | ENST00000595187.1 |
| exon_skip_304678 | 19 | 24274702:24274817:24288741:24288868:24289349:24289445 | 24288741:24288868 | ENSG00000213096.5 | ENST00000594886.1 |
| exon_skip_304681 | 19 | 24288741:24288868:24289349:24289445:24309055:24309122 | 24289349:24289445 | ENSG00000213096.5 | ENST00000594886.1,ENST00000357002.4,ENST00000595187.1 |
| 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 ZNF254 |
| 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 |
| ENST00000357002 | 24288741 | 24288868 | Frame-shift |
| ENST00000357002 | 24289349 | 24289445 | 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 |
| ENST00000357002 | 24288741 | 24288868 | Frame-shift |
| ENST00000357002 | 24289349 | 24289445 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZNF254 |
| 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 |
| ENST00000357002 | 3984 | 659 | 24289349 | 24289445 | 273 | 368 | 52 | 84 |
| 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 |
| ENST00000357002 | 3984 | 659 | 24289349 | 24289445 | 273 | 368 | 52 | 84 |
| 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 |
| O75437 | 52 | 84 | 1 | 659 | Chain | ID=PRO_0000047487;Note=Zinc finger protein 254 |
| O75437 | 52 | 84 | 13 | 84 | 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 |
| O75437 | 52 | 84 | 1 | 659 | Chain | ID=PRO_0000047487;Note=Zinc finger protein 254 |
| O75437 | 52 | 84 | 13 | 84 | Domain | Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 |
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SNVs in the skipped exons for ZNF254 |
| - 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 |
| PAAD | TCGA-IB-7651-01 | exon_skip_304681 | 24289350 | 24289445 | 24289407 | 24289407 | Nonsense_Mutation | G | A | p.W72* |
| PAAD | TCGA-IB-7651-01 | exon_skip_304681 | 24289350 | 24289445 | 24289407 | 24289407 | Nonsense_Mutation | G | A | p.W72X |
| READ | TCGA-AG-A002-01 | exon_skip_304681 | 24289350 | 24289445 | 24289408 | 24289408 | Nonsense_Mutation | G | A | p.W72X |
| - 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 |
| NCIH1819_LUNG | 24289350 | 24289445 | 24289435 | 24289436 | Frame_Shift_Del | TG | - | p.D81fs |
| NCIH1819_LUNG | 24289350 | 24289445 | 24289433 | 24289434 | Frame_Shift_Ins | - | CC | p.D81fs |
| NCIH2087_LUNG | 24288742 | 24288868 | 24288746 | 24288746 | Missense_Mutation | T | C | p.L12P |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24288742 | 24288868 | 24288764 | 24288764 | Missense_Mutation | T | C | p.V18A |
| LI7_LIVER | 24288742 | 24288868 | 24288781 | 24288781 | Missense_Mutation | C | G | p.L24V |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24288742 | 24288868 | 24288781 | 24288781 | Missense_Mutation | C | G | p.L24V |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24288742 | 24288868 | 24288851 | 24288851 | Missense_Mutation | G | A | p.R47K |
| KMH2_THYROID | 24289350 | 24289445 | 24289380 | 24289380 | Missense_Mutation | C | A | p.T63N |
| EFO21_OVARY | 24289350 | 24289445 | 24289437 | 24289437 | Missense_Mutation | A | T | p.E82V |
| DMS454_LUNG | 24288742 | 24288868 | 24288742 | 24288742 | Splice_Site | G | T | p.G11* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF254 |
| 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 ZNF254 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF254 |
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RelatedDrugs for ZNF254 |
| 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 ZNF254 |
| 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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