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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 ZSCAN23 |
Gene summary |
Gene information | Gene symbol | ZSCAN23 | Gene ID | 222696 |
Gene name | zinc finger and SCAN domain containing 23 | |
Synonyms | ZNF390|ZNF453|dJ29K1.3|dJ29K1.3.1 | |
Cytomap | 6p22.1 | |
Type of gene | protein-coding | |
Description | zinc finger and SCAN domain-containing protein 23zinc finger protein 390zinc finger protein 453 | |
Modification date | 20180519 | |
UniProtAcc | Q3MJ62 | |
Context | PubMed: ZSCAN23 [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 ZSCAN23 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 ZSCAN23 |
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 ZSCAN23 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456845 | 6 | 28402667:28402855:28403236:28403384:28403635:28404120 | 28403236:28403384 | ENSG00000187987.5 | ENST00000289788.4 |
exon_skip_456847 | 6 | 28402667:28402855:28403236:28403384:28411175:28411244 | 28403236:28403384 | ENSG00000187987.5 | ENST00000486481.1 |
exon_skip_456852 | 6 | 28403236:28403384:28403635:28404120:28411175:28411244 | 28403635:28404120 | ENSG00000187987.5 | ENST00000289788.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZSCAN23 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_456845 | 6 | 28402667:28402855:28403236:28403384:28403635:28404120 | 28403236:28403384 | ENSG00000187987.5 | ENST00000289788.4 |
exon_skip_456847 | 6 | 28402667:28402855:28403236:28403384:28411175:28411244 | 28403236:28403384 | ENSG00000187987.5 | ENST00000486481.1 |
exon_skip_456852 | 6 | 28403236:28403384:28403635:28404120:28411175:28411244 | 28403635:28404120 | ENSG00000187987.5 | ENST00000289788.4 |
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 ZSCAN23 |
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 |
ENST00000289788 | 28403635 | 28404120 | 3UTR-3CDS |
ENST00000289788 | 28403236 | 28403384 | 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 |
ENST00000289788 | 28403635 | 28404120 | 3UTR-3CDS |
ENST00000289788 | 28403236 | 28403384 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ZSCAN23 |
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 |
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 ZSCAN23 |
- 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 |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_456852 | 28403636 | 28404120 | 28403857 | 28403857 | Frame_Shift_Del | G | - | p.R63fs |
LIHC | TCGA-DD-A39Y-01 | exon_skip_456852 | 28403636 | 28404120 | 28403865 | 28403865 | Frame_Shift_Del | G | - | p.P60fs |
SKCM | TCGA-BF-A1PV-01 | exon_skip_456852 | 28403636 | 28404120 | 28403731 | 28403731 | Nonsense_Mutation | G | A | p.Q105* |
BRCA | TCGA-AN-A0XN-01 | exon_skip_456852 | 28403636 | 28404120 | 28403825 | 28403825 | Nonsense_Mutation | G | T | p.C73* |
- 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 |
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28403237 | 28403384 | 28403317 | 28403317 | Missense_Mutation | T | A | p.E159V |
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28403237 | 28403384 | 28403317 | 28403317 | Missense_Mutation | T | A | p.E159V |
8505C_THYROID | 28403237 | 28403384 | 28403317 | 28403317 | Missense_Mutation | T | A | p.E159V |
SNU5_STOMACH | 28403237 | 28403384 | 28403317 | 28403317 | Missense_Mutation | T | A | p.E159V |
SW684_SOFT_TISSUE | 28403237 | 28403384 | 28403332 | 28403332 | Missense_Mutation | G | A | p.P154L |
SNU1040_LARGE_INTESTINE | 28403636 | 28404120 | 28403709 | 28403709 | Missense_Mutation | C | T | p.R112H |
KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 28403636 | 28404120 | 28403798 | 28403798 | Missense_Mutation | G | T | p.H82Q |
COLO684_ENDOMETRIUM | 28403636 | 28404120 | 28403884 | 28403884 | Missense_Mutation | A | G | p.F54L |
SUM149PT_BREAST | 28403636 | 28404120 | 28403901 | 28403901 | Missense_Mutation | C | T | p.R48H |
SNU175_LARGE_INTESTINE | 28403636 | 28404120 | 28403955 | 28403955 | Missense_Mutation | C | T | p.C30Y |
CALU6_LUNG | 28403636 | 28404120 | 28403975 | 28403975 | Missense_Mutation | C | A | p.E23D |
NCIH1435_LUNG | 28403237 | 28403384 | 28403261 | 28403261 | Nonsense_Mutation | C | A | p.E178* |
PACADD137_PANCREAS | 28403237 | 28403384 | 28403264 | 28403264 | Nonsense_Mutation | G | A | p.R177* |
NCIH2228_LUNG | 28403237 | 28403384 | 28403366 | 28403366 | Nonsense_Mutation | C | A | p.E143* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZSCAN23 |
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 ZSCAN23 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZSCAN23 |
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RelatedDrugs for ZSCAN23 |
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 ZSCAN23 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |