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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for ZNF257 |
Gene summary |
Gene information | Gene symbol | ZNF257 | Gene ID | 113835 |
Gene name | zinc finger protein 257 | |
Synonyms | BMZF-4|BMZF4 | |
Cytomap | 19p12 | |
Type of gene | protein-coding | |
Description | zinc finger protein 257bone marrow zinc finger 4 | |
Modification date | 20180519 | |
UniProtAcc | Q9Y2Q1 | |
Context | PubMed: ZNF257 [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 ZNF257 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 ZNF257 |
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 ZNF257 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENSG00000197134.7 | ENST00000597796.1 |
exon_skip_304521 | 19 | 22235337:22235437:22255610:22255737:22256270:22256366 | 22255610:22255737 | ENSG00000197134.7 | ENST00000594947.1,ENST00000600162.1,ENST00000594363.1 |
exon_skip_304524 | 19 | 22255610:22255737:22256270:22256366:22270778:22271178 | 22256270:22256366 | ENSG00000197134.7 | ENST00000594947.1,ENST00000435820.2 |
exon_skip_304525 | 19 | 22256270:22256366:22270332:22270397:22270778:22271178 | 22270332:22270397 | ENSG00000197134.7 | ENST00000600162.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF257 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENSG00000197134.7 | ENST00000597796.1 |
exon_skip_304521 | 19 | 22235337:22235437:22255610:22255737:22256270:22256366 | 22255610:22255737 | ENSG00000197134.7 | ENST00000594363.1,ENST00000594947.1,ENST00000600162.1 |
exon_skip_304524 | 19 | 22255610:22255737:22256270:22256366:22270778:22271178 | 22256270:22256366 | ENSG00000197134.7 | ENST00000435820.2,ENST00000594947.1 |
exon_skip_304525 | 19 | 22256270:22256366:22270332:22270397:22270778:22271178 | 22270332:22270397 | ENSG00000197134.7 | ENST00000600162.1 |
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 ZNF257 |
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 |
ENST00000594947 | 22255610 | 22255737 | Frame-shift |
ENST00000594947 | 22256270 | 22256366 | 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 |
ENST00000594947 | 22255610 | 22255737 | Frame-shift |
ENST00000594947 | 22256270 | 22256366 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZNF257 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000594947 | 3891 | 563 | 22256270 | 22256366 | 275 | 370 | 43 | 75 |
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 |
ENST00000594947 | 3891 | 563 | 22256270 | 22256366 | 275 | 370 | 43 | 75 |
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 |
Q9Y2Q1 | 43 | 75 | 51 | 83 | Alternative sequence | ID=VSP_040859;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y2Q1 | 43 | 75 | 1 | 563 | Chain | ID=PRO_0000047490;Note=Zinc finger protein 257 |
Q9Y2Q1 | 43 | 75 | 4 | 75 | 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 |
Q9Y2Q1 | 43 | 75 | 51 | 83 | Alternative sequence | ID=VSP_040859;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
Q9Y2Q1 | 43 | 75 | 1 | 563 | Chain | ID=PRO_0000047490;Note=Zinc finger protein 257 |
Q9Y2Q1 | 43 | 75 | 4 | 75 | Domain | Note=KRAB;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00119 |
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SNVs in the skipped exons for ZNF257 |
- 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-22-5473-01 | exon_skip_304521 | 22255611 | 22255737 | 22255656 | 22255656 | Nonsense_Mutation | G | T | p.E17* |
- 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 |
SW48_LARGE_INTESTINE | 22256271 | 22256366 | 22256316 | 22256317 | Frame_Shift_Ins | - | A | p.GK59fs |
NCIH1573_LUNG | 22255611 | 22255737 | 22255655 | 22255655 | Missense_Mutation | G | T | p.E16D |
HCC1833_LUNG | 22255611 | 22255737 | 22255666 | 22255666 | Missense_Mutation | G | T | p.C20F |
MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22255611 | 22255737 | 22255674 | 22255674 | Missense_Mutation | A | T | p.T23S |
MCC13_SKIN | 22255611 | 22255737 | 22255720 | 22255720 | Missense_Mutation | G | A | p.R38K |
HCT15_LARGE_INTESTINE | 22255611 | 22255737 | 22255728 | 22255728 | Missense_Mutation | G | A | p.V41I |
UMUC5_URINARY_TRACT | 22256271 | 22256366 | 22256273 | 22256273 | Missense_Mutation | A | G | p.I45V |
TE5_OESOPHAGUS | 22256271 | 22256366 | 22256280 | 22256280 | Missense_Mutation | T | C | p.V47A |
IALM_LUNG | 22256271 | 22256366 | 22256280 | 22256280 | Missense_Mutation | T | C | p.V47A |
TGBC24TKB_BILIARY_TRACT | 22256271 | 22256366 | 22256280 | 22256280 | Missense_Mutation | T | C | p.V47A |
TGW_AUTONOMIC_GANGLIA | 22256271 | 22256366 | 22256280 | 22256280 | Missense_Mutation | T | C | p.V47A |
NCIH684_LIVER | 22256271 | 22256366 | 22256309 | 22256309 | Missense_Mutation | G | C | p.E57Q |
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22256271 | 22256366 | 22256359 | 22256359 | Missense_Mutation | A | C | p.K73N |
TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 22256271 | 22256366 | 22256363 | 22256363 | Missense_Mutation | C | T | p.P75S |
LNCAPCLONEFGC_PROSTATE | 22255611 | 22255737 | 22255661 | 22255661 | Nonsense_Mutation | G | A | p.W18* |
MEWO_SKIN | 22255611 | 22255737 | 22255661 | 22255661 | Nonsense_Mutation | G | A | p.W18* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF257 |
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_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | BLCA | rs10423881 | chr19:22243422 | G/A | 1.25e-05 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | BLCA | rs10423881 | chr19:22243422 | G/A | 2.85e-05 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | ESCA | rs10423881 | chr19:22243422 | G/A | 9.75e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | HNSC | rs10423881 | chr19:22243422 | G/A | 1.53e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | HNSC | rs10423881 | chr19:22243422 | G/A | 1.74e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | BRCA | rs10423881 | chr19:22243422 | G/A | 1.80e-23 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | BRCA | rs10423881 | chr19:22243422 | G/A | 1.80e-23 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | KIRP | rs10423881 | chr19:22243422 | G/A | 2.94e-05 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | KIRP | rs10423881 | chr19:22243422 | G/A | 9.70e-05 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LGG | rs10423881 | chr19:22243422 | G/A | 5.38e-23 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LGG | rs10423881 | chr19:22243422 | G/A | 5.38e-23 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | KIRC | rs10423881 | chr19:22243422 | G/A | 3.65e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | KIRC | rs10423881 | chr19:22243422 | G/A | 3.65e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LUAD | rs10423881 | chr19:22243422 | G/A | 7.07e-08 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LUAD | rs10423881 | chr19:22243422 | G/A | 8.35e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LUSC | rs10423881 | chr19:22243422 | G/A | 1.49e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | LUSC | rs10423881 | chr19:22243422 | G/A | 6.02e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | OV | rs10423881 | chr19:22243422 | G/A | 2.22e-08 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | OV | rs10423881 | chr19:22243422 | G/A | 3.41e-07 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | PAAD | rs10423881 | chr19:22243422 | G/A | 8.33e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | PAAD | rs10423881 | chr19:22243422 | G/A | 8.33e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | PRAD | rs10423881 | chr19:22243422 | G/A | 1.19e-03 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | PRAD | rs10423881 | chr19:22243422 | G/A | 1.19e-03 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | SARC | rs10423881 | chr19:22243422 | G/A | 6.39e-06 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | SARC | rs10423881 | chr19:22243422 | G/A | 2.49e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | STAD | rs10423881 | chr19:22243422 | G/A | 2.15e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | STAD | rs10423881 | chr19:22243422 | G/A | 4.07e-04 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | THCA | rs10423881 | chr19:22243422 | G/A | 1.48e-13 |
exon_skip_304520 | 19 | 22235337:22235437:22243309:22243430:22255610:22255737 | 22243309:22243430 | ENST00000597796.1 | THCA | rs10423881 | chr19:22243422 | G/A | 1.48e-13 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF257 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF257 |
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RelatedDrugs for ZNF257 |
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 ZNF257 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |