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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 JAZF1 |
Gene summary |
Gene information | Gene symbol | JAZF1 | Gene ID | 221895 |
Gene name | JAZF zinc finger 1 | |
Synonyms | TIP27|ZNF802 | |
Cytomap | 7p15.2-p15.1 | |
Type of gene | protein-coding | |
Description | juxtaposed with another zinc finger protein 1TAK1-interacting protein 27juxtaposed with another zinc finger gene 1zinc finger protein 802 | |
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 |
JAZF1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 15302918 |
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Gene structures and expression levels for JAZF1 |
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 |
PG | DOWN | ENST00000444500.3 | JAZF1-AS1-202:lncRNA:JAZF1 | 8.121449e+00 | -9.213675e-01 | 2.141898e-03 | 2.508386e-02 |
CB | UP | ENST00000466516.1 | JAZF1-208:lncRNA:JAZF1 | 7.286804e-01 | 1.131007e+00 | 1.626783e-03 | 7.763059e-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 JAZF1 |
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_17694 | chr7 | 27895220:27895416:27913392:27913453:27991909:27991981 | 27913392:27913453 |
exon_skip_231435 | chr7 | 27895219:27895416:27913392:27913453:27991909:27991981 | 27913392:27913453 |
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 JAZF1 |
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 |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for JAZF1 |
p-ENSG00000153814_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 JAZF1 |
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 JAZF1 |
- 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 JAZF1 |
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 JAZF1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
HCC | exon_skip_17694 | rs194 | chr7:27904400 | 6.813501e-15 | 4.640157e-12 |
HCC | exon_skip_17694 | rs4719914 | chr7:27904651 | 6.813501e-15 | 4.640157e-12 |
HCC | exon_skip_17694 | rs202 | chr7:27909337 | 2.092081e-14 | 1.325242e-11 |
HCC | exon_skip_17694 | rs212 | chr7:27917875 | 6.757645e-14 | 3.950874e-11 |
HCC | exon_skip_17694 | rs1989908 | chr7:27918134 | 1.201096e-13 | 6.797782e-11 |
HCC | exon_skip_17694 | rs17621988 | chr7:27919131 | 2.071555e-13 | 1.139475e-10 |
HCC | exon_skip_17694 | rs7776540 | chr7:27944880 | 2.174676e-10 | 7.271846e-08 |
HCC | exon_skip_17694 | rs17622746 | chr7:27950772 | 7.150234e-09 | 1.802533e-06 |
HCC | exon_skip_17694 | rs727663 | chr7:27877274 | 1.811843e-07 | 3.451403e-05 |
HCC | exon_skip_17694 | rs10266923 | chr7:27878610 | 2.583664e-06 | 3.847531e-04 |
HCC | exon_skip_17694 | rs720437 | chr7:27878796 | 2.194759e-05 | 2.502598e-03 |
HCC | exon_skip_17694 | rs7799957 | chr7:27842641 | 8.204713e-05 | 7.739300e-03 |
HCC | exon_skip_17694 | rs6961731 | chr7:27885539 | 1.122718e-04 | 1.009114e-02 |
HCC | exon_skip_17694 | rs7806169 | chr7:27867974 | 1.336633e-04 | 1.167518e-02 |
HCC | exon_skip_17694 | rs7804500 | chr7:27910336 | 2.061663e-04 | 1.662200e-02 |
HCC | exon_skip_17694 | rs10244184 | chr7:27892457 | 4.923064e-04 | 3.348431e-02 |
HCC | exon_skip_17694 | rs3823945 | chr7:27833499 | 5.294135e-04 | 3.549524e-02 |
PCC | exon_skip_17694 | rs194 | chr7:27904400 | 3.786171e-06 | 1.105860e-03 |
PCC | exon_skip_17694 | rs4719914 | chr7:27904651 | 3.786171e-06 | 1.105860e-03 |
PCC | exon_skip_17694 | rs17621988 | chr7:27919131 | 2.307530e-05 | 5.235103e-03 |
PCC | exon_skip_17694 | rs202 | chr7:27909337 | 2.550269e-05 | 5.654311e-03 |
PCC | exon_skip_17694 | rs727663 | chr7:27877274 | 3.295585e-05 | 7.028385e-03 |
PCC | exon_skip_17694 | rs212 | chr7:27917875 | 5.106492e-05 | 1.007838e-02 |
PCC | exon_skip_17694 | rs1989908 | chr7:27918134 | 8.757226e-05 | 1.546887e-02 |
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Correlation with RNA binding proteins (RBPs) for JAZF1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
IFG | PABPN1L | exon_skip_17694 | -4.210016e-01 | 3.610218e-02 |
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RelatedDrugs for JAZF1 |
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 JAZF1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |