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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for ZNF248 |
Gene summary |
Gene information | Gene symbol | ZNF248 | Gene ID | 57209 |
Gene name | zinc finger protein 248 | |
Synonyms | bA162G10.3 | |
Cytomap | 10p11.21 | |
Type of gene | protein-coding | |
Description | zinc finger protein 248KRAB protein domainKruppel-type zinc finger proteinbA162G10.3 (zinc finger protein) | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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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Gene structures and expression levels for ZNF248 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000395873.7 | ZNF248-204:protein_coding:ZNF248 | 4.801796e+00 | 1.421461e+00 | 1.527259e-09 | 6.179045e-08 |
CB | UP | ENST00000395867.7 | ZNF248-203:protein_coding:ZNF248 | 9.597592e+02 | 8.030027e-01 | 2.675853e-04 | 1.703822e-03 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for ZNF248 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_176364 | chr10 | 37856296:37856337:37856435:37856532:37857185:37857197 | 37856435:37856532 |
exon_skip_201669 | chr10 | 37856296:37856337:37856435:37856532:37857765:37858037 | 37856435:37856532 |
exon_skip_252579 | chr10 | 37856296:37856337:37856435:37856532:37858005:37858084 | 37856435:37856532 |
exon_skip_66452 | chr10 | 37837985:37838111:37856296:37856337:37857185:37857197 | 37856296:37856337 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for ZNF248 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357328 | 37856435 | 37856532 | 3UTR-3UTR |
ENST00000395867 | 37856435 | 37856532 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357328 | 37856435 | 37856532 | 3UTR-3UTR |
ENST00000395867 | 37856435 | 37856532 | 3UTR-3UTR |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357328 | 37856435 | 37856532 | 3UTR-3UTR |
ENST00000395867 | 37856435 | 37856532 | 3UTR-3UTR |
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Infer the effects of exon skipping event on protein functional features for ZNF248 |
p-ENSG00000198105_img4.png |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in ZNF248 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181b-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181a-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-3670 | chr10:37856462-37856469 | 8mer-1a | chr10:37856456-37856472 | 154.00 | -16.23 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181c-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181d-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-4262 | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
Mayo | ENST00000395867 | 37856435 | 37856532 | hsa-miR-551b-5p | chr10:37856510-37856517 | 8mer-1a | chr10:37856507-37856531 | 149.00 | -9.70 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181b-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181a-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-3670 | chr10:37856462-37856469 | 8mer-1a | chr10:37856456-37856472 | 154.00 | -16.23 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181c-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181d-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-4262 | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
MSBB | ENST00000395867 | 37856435 | 37856532 | hsa-miR-551b-5p | chr10:37856510-37856517 | 8mer-1a | chr10:37856507-37856531 | 149.00 | -9.70 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181b-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181a-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-3670 | chr10:37856462-37856469 | 8mer-1a | chr10:37856456-37856472 | 154.00 | -16.23 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181c-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-181d-5p | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-4262 | chr10:37856491-37856498 | 8mer-1a | chr10:37856477-37856498 | 151.00 | -16.46 |
ROSMAP | ENST00000395867 | 37856435 | 37856532 | hsa-miR-551b-5p | chr10:37856510-37856517 | 8mer-1a | chr10:37856507-37856531 | 149.00 | -9.70 |
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SNVs in the skipped exons for ZNF248 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for ZNF248 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZNF248 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for ZNF248 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
PCC | ZNF326 | exon_skip_176364 | -4.355358e-01 | 4.194665e-10 |
PCC | SRSF11 | exon_skip_176364 | -4.147473e-01 | 3.268893e-09 |
TC | KHDRBS2 | exon_skip_176364 | 4.572465e-01 | 1.057389e-07 |
TC | KHDRBS3 | exon_skip_176364 | 4.252828e-01 | 9.423481e-07 |
TC | RALYL | exon_skip_176364 | 4.543453e-01 | 1.301725e-07 |
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RelatedDrugs for ZNF248 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ZNF248 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |