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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 ZNF397 |
Gene summary |
Gene information | Gene symbol | ZNF397 | Gene ID | 84307 |
Gene name | zinc finger protein 397 | |
Synonyms | ZNF47|ZSCAN15 | |
Cytomap | 18q12.2 | |
Type of gene | protein-coding | |
Description | zinc finger protein 397zinc finger and SCAN domain-containing protein 15zinc finger protein 47 | |
Modification date | 20180519 | |
UniProtAcc | Q8NF99 | |
Context | PubMed: ZNF397 [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 ZNF397 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 ZNF397 |
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 ZNF397 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENSG00000186812.8 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENSG00000186812.8 | ENST00000585800.1 |
exon_skip_296345 | 18 | 32823115:32823257:32825225:32825315:32834195:32834366 | 32825225:32825315 | ENSG00000186812.8 | ENST00000589420.1,ENST00000261333.6 |
exon_skip_296351 | 18 | 32823115:32823257:32834195:32834366:32837891:32838013 | 32834195:32834366 | ENSG00000186812.8 | ENST00000355632.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZNF397 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENSG00000186812.8 | ENST00000591206.1,ENST00000330501.7,ENST00000261333.6,ENST00000355632.4 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENSG00000186812.8 | ENST00000585800.1 |
exon_skip_296345 | 18 | 32823115:32823257:32825225:32825315:32834195:32834366 | 32825225:32825315 | ENSG00000186812.8 | ENST00000589420.1,ENST00000261333.6 |
exon_skip_296351 | 18 | 32823115:32823257:32834195:32834366:32837891:32838013 | 32834195:32834366 | ENSG00000186812.8 | ENST00000355632.4 |
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 ZNF397 |
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 |
ENST00000330501 | 32822354 | 32822848 | 5CDS-5UTR |
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 |
ENST00000330501 | 32822354 | 32822848 | 5CDS-5UTR |
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Infer the effects of exon skipping event on protein functional features for ZNF397 |
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 ZNF397 |
- 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-DD-A3A0-01 | exon_skip_296341 exon_skip_296339 | 32822355 | 32822848 | 32822621 | 32822621 | Frame_Shift_Del | G | - | p.G63fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_296341 exon_skip_296339 | 32822355 | 32822848 | 32822791 | 32822791 | Frame_Shift_Del | G | - | p.E120fs |
CESC | TCGA-EK-A3GK-01 | exon_skip_296345 | 32825226 | 32825315 | 32825269 | 32825270 | Frame_Shift_Ins | - | T | p.E200fs |
UCEC | TCGA-BS-A0UF-01 | exon_skip_296345 | 32825226 | 32825315 | 32825306 | 32825306 | Nonsense_Mutation | C | T | p.R213* |
- 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 |
TE441T_SOFT_TISSUE | 32822355 | 32822848 | 32822492 | 32822492 | Missense_Mutation | G | C | p.E20Q |
RH30_SOFT_TISSUE | 32822355 | 32822848 | 32822525 | 32822525 | Missense_Mutation | T | A | p.S31T |
SJRH30_SOFT_TISSUE | 32822355 | 32822848 | 32822525 | 32822525 | Missense_Mutation | T | A | p.S31T |
HT115_LARGE_INTESTINE | 32822355 | 32822848 | 32822582 | 32822582 | Missense_Mutation | C | T | p.R50C |
SALE_LUNG | 32822355 | 32822848 | 32822593 | 32822593 | Missense_Mutation | C | G | p.F53L |
HEC251_ENDOMETRIUM | 32822355 | 32822848 | 32822598 | 32822598 | Missense_Mutation | A | C | p.K55T |
HEC6_ENDOMETRIUM | 32822355 | 32822848 | 32822627 | 32822627 | Missense_Mutation | C | T | p.R65W |
HCT15_LARGE_INTESTINE | 32822355 | 32822848 | 32822692 | 32822692 | Missense_Mutation | G | T | p.K86N |
OVTOKO_OVARY | 32822355 | 32822848 | 32822744 | 32822744 | Missense_Mutation | G | A | p.E104K |
SNU1_STOMACH | 32822355 | 32822848 | 32822835 | 32822835 | Missense_Mutation | A | G | p.D134G |
SNU81_LARGE_INTESTINE | 32825226 | 32825315 | 32825306 | 32825306 | Nonsense_Mutation | C | T | p.R213* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF397 |
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_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | BRCA | rs4799374 | chr18:32822382 | G/T | 7.70e-04 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | LGG | rs73426512 | chr18:32822352 | C/T | 1.70e-07 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | LGG | rs73426512 | chr18:32822352 | C/T | 7.81e-06 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | PRAD | rs73426512 | chr18:32822352 | C/T | 5.60e-04 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | PRAD | rs73426512 | chr18:32822352 | C/T | 2.38e-03 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | SARC | rs73426512 | chr18:32822352 | C/T | 8.13e-04 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | THCA | rs73426512 | chr18:32822352 | C/T | 1.85e-03 |
exon_skip_296341 | 18 | 32821565:32821654:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000585800.1 | THCA | rs73426512 | chr18:32822352 | C/T | 3.81e-03 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | BRCA | rs4799374 | chr18:32822382 | G/T | 7.70e-04 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | LGG | rs73426512 | chr18:32822352 | C/T | 1.70e-07 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | LGG | rs73426512 | chr18:32822352 | C/T | 7.81e-06 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | PRAD | rs73426512 | chr18:32822352 | C/T | 5.60e-04 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | PRAD | rs73426512 | chr18:32822352 | C/T | 2.38e-03 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | SARC | rs73426512 | chr18:32822352 | C/T | 8.13e-04 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | THCA | rs73426512 | chr18:32822352 | C/T | 1.85e-03 |
exon_skip_296339 | 18 | 32821018:32821073:32822354:32822848:32823115:32823202 | 32822354:32822848 | ENST00000591206.1,ENST00000261333.6,ENST00000355632.4,ENST00000330501.7 | THCA | rs73426512 | chr18:32822352 | C/T | 3.81e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF397 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZNF397 |
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RelatedDrugs for ZNF397 |
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 ZNF397 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |