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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 ZCCHC8 |
Gene summary |
Gene information | Gene symbol | ZCCHC8 | Gene ID | 55596 |
Gene name | zinc finger CCHC-type containing 8 | |
Synonyms | PFBMFT5 | |
Cytomap | 12q24.31 | |
Type of gene | protein-coding | |
Description | zinc finger CCHC domain-containing protein 8TRAMP-like complex RNA-binding factor ZCCHC8zinc finger, CCHC domain containing 8 | |
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 ZCCHC8 |
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 |
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 ZCCHC8 |
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_166588 | chr12 | 122482635:122482695:122483279:122483563:122489386:122489463 | 122483279:122483563 |
exon_skip_235037 | chr12 | 122477917:122477958:122478206:122478292:122480190:122480311 | 122478206:122478292 |
exon_skip_281788 | chr12 | 122482635:122482695:122483279:122483344:122489386:122489463 | 122483279:122483344 |
exon_skip_48842 | chr12 | 122482002:122482087:122482635:122482695:122489386:122489463 | 122482635:122482695 |
exon_skip_68230 | chr12 | 122490462:122490567:122490935:122491053:122492715:122492789 | 122490935:122491053 |
exon_skip_71856 | chr12 | 122483279:122483344:122483460:122483563:122489386:122489463 | 122483460:122483563 |
exon_skip_85878 | chr12 | 122482002:122482087:122482635:122482695:122483279:122483344 | 122482635:122482695 |
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 |
exon_skip_85878 | Mayo_CB | 7.867901e-01 | 9.370000e-01 | -1.502099e-01 | 1.429670e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for ZCCHC8 |
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 |
ENST00000633063 | 122482635 | 122482695 | Frame-shift |
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 |
ENST00000633063 | 122482635 | 122482695 | Frame-shift |
ENST00000633063 | 122483460 | 122483563 | Frame-shift |
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 |
ENST00000633063 | 122482635 | 122482695 | Frame-shift |
ENST00000633063 | 122478206 | 122478292 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZCCHC8 |
p-ENSG00000033030_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 |
ENST00000633063 | 2972 | 707 | 122478206 | 122478292 | 1374 | 1459 | 380 | 408 |
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 |
Q6NZY4 | 380 | 408 | 2 | 707 | Chain | ID=PRO_0000150960;Note=Zinc finger CCHC domain-containing protein 8 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ZCCHC8 |
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 |
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SNVs in the skipped exons for ZCCHC8 |
- 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 ZCCHC8 |
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 ZCCHC8 |
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 ZCCHC8 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | TRA2A | exon_skip_85878 | -4.934150e-01 | 1.218782e-10 |
CB | NUP42 | exon_skip_85878 | 4.004502e-01 | 3.491763e-07 |
CB | ZFP36 | exon_skip_188895 | -4.364728e-01 | 5.052395e-08 |
CB | NUP42 | exon_skip_188895 | 4.204438e-01 | 1.713286e-07 |
TC | RBM3 | exon_skip_166588 | -5.081528e-01 | 1.068822e-08 |
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RelatedDrugs for ZCCHC8 |
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 ZCCHC8 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |