|
||||||
|
 | |
| |
| |
| 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 PATZ1 |
 Gene summary |
| Gene information | Gene symbol | PATZ1 | Gene ID | 23598 |
| Gene name | POZ/BTB and AT hook containing zinc finger 1 | |
| Synonyms | MAZR|PATZ|RIAZ|ZBTB19|ZNF278|ZSG|dJ400N23 | |
| Cytomap | 22q12.2 | |
| Type of gene | protein-coding | |
| Description | POZ-, AT hook-, and zinc finger-containing protein 1BTB-POZ domain zinc finger transcription factorMAZ-related factorPOZ-AT hook-zinc finger proteinprotein kinase A RI subunit alpha-associated proteinzinc finger and BTB domain-containing protein 19z | |
| Modification date | 20200313 | |
| UniProtAcc | Q9HBE1, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for PATZ1 |
| 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. |
 |
ENSG00000100105
| 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 | DOWN | ENST00000465287.1 | PATZ1-205:retained_intron:PATZ1 | 7.796231e+01 | -1.018996e+00 | 1.025067e-10 | 6.436316e-09 |
| TC | DOWN | ENST00000465287.1 | PATZ1-205:retained_intron:PATZ1 | 5.681629e+01 | -9.984422e-01 | 8.371471e-08 | 5.267823e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for PATZ1 |
| 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_1607 | chr22 | 31325809:31327309:31328787:31328859:31335692:31335863 | 31328787:31328859 |
| exon_skip_224288 | chr22 | 31326824:31327309:31328787:31328859:31335692:31335863 | 31328787:31328859 |
| exon_skip_254699 | chr22 | 31325809:31327309:31328787:31328924:31335692:31335863 | 31328787:31328924 |
| exon_skip_34788 | chr22 | 31327077:31327309:31328787:31328859:31335692:31335863 | 31328787:31328859 |
| exon_skip_5091 | chr22 | 31326824:31327309:31328787:31328924:31335692:31335863 | 31328787:31328924 |
| exon_skip_84623 | chr22 | 31327077:31327309:31328787:31328924:31335692:31335863 | 31328787:31328924 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for PATZ1 |
| 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 |
| ENST00000266269 | 31328787 | 31328924 | In-frame |
| 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 |
| ENST00000266269 | 31328787 | 31328924 | In-frame |
| 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 |
| ENST00000266269 | 31328787 | 31328924 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for PATZ1 |
p-ENSG00000100105_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 |
| ENST00000266269 | 3798 | 687 | 31328787 | 31328924 | 2138 | 2274 | 502 | 548 |
| 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 |
| ENST00000266269 | 3798 | 687 | 31328787 | 31328924 | 2138 | 2274 | 502 | 548 |
| 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 |
| ENST00000266269 | 3798 | 687 | 31328787 | 31328924 | 2138 | 2274 | 502 | 548 |
| 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 |
| Q9HBE1 | 502 | 548 | 446 | 537 | Alternative sequence | ID=VSP_008802;Note=In isoform 4. TCNASFATRDRLRSHLACHEDKVPCQVCGKYLRAAYMADHLKKHSEGPSNFCSICNRGFSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->VWVGSSSGLPPLEPLPSDLPSWDFAQPALWRSSHSVPDTAFSLSLKKSFPALENLGPAHSSNTLFCPAPPGYLRQGWTTPEGSRAFTQWPVG;Ontology_term=ECO:0000303,ECO:00003 |
| Q9HBE1 | 502 | 548 | 503 | 548 | Alternative sequence | ID=VSP_008801;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15461802,ECO:0000303|Ref.4;Dbxref=PMID:10949935,PMID:15461802 |
| Q9HBE1 | 502 | 548 | 504 | 537 | Alternative sequence | ID=VSP_008799;Note=In isoform 2. FSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->LQAPGAHPEWGSSVPLRQDLWQQRRPEMLTSGSD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10949935;Dbxref=PMID:10949935 |
| Q9HBE1 | 502 | 548 | 538 | 687 | Alternative sequence | ID=VSP_008800;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10713105,ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15489334;Dbxref=PMID:10713105,PMID:10949935,PMID:15489334 |
| Q9HBE1 | 502 | 548 | 1 | 687 | Chain | ID=PRO_0000047504;Note=POZ-%2C AT hook-%2C and zinc finger-containing protein 1 |
| Q9HBE1 | 502 | 548 | 495 | 518 | Zinc finger | Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| 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 |
| Q9HBE1 | 502 | 548 | 446 | 537 | Alternative sequence | ID=VSP_008802;Note=In isoform 4. TCNASFATRDRLRSHLACHEDKVPCQVCGKYLRAAYMADHLKKHSEGPSNFCSICNRGFSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->VWVGSSSGLPPLEPLPSDLPSWDFAQPALWRSSHSVPDTAFSLSLKKSFPALENLGPAHSSNTLFCPAPPGYLRQGWTTPEGSRAFTQWPVG;Ontology_term=ECO:0000303,ECO:00003 |
| Q9HBE1 | 502 | 548 | 503 | 548 | Alternative sequence | ID=VSP_008801;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15461802,ECO:0000303|Ref.4;Dbxref=PMID:10949935,PMID:15461802 |
| Q9HBE1 | 502 | 548 | 504 | 537 | Alternative sequence | ID=VSP_008799;Note=In isoform 2. FSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->LQAPGAHPEWGSSVPLRQDLWQQRRPEMLTSGSD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10949935;Dbxref=PMID:10949935 |
| Q9HBE1 | 502 | 548 | 538 | 687 | Alternative sequence | ID=VSP_008800;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10713105,ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15489334;Dbxref=PMID:10713105,PMID:10949935,PMID:15489334 |
| Q9HBE1 | 502 | 548 | 1 | 687 | Chain | ID=PRO_0000047504;Note=POZ-%2C AT hook-%2C and zinc finger-containing protein 1 |
| Q9HBE1 | 502 | 548 | 495 | 518 | Zinc finger | Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
| 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 |
| Q9HBE1 | 502 | 548 | 446 | 537 | Alternative sequence | ID=VSP_008802;Note=In isoform 4. TCNASFATRDRLRSHLACHEDKVPCQVCGKYLRAAYMADHLKKHSEGPSNFCSICNRGFSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->VWVGSSSGLPPLEPLPSDLPSWDFAQPALWRSSHSVPDTAFSLSLKKSFPALENLGPAHSSNTLFCPAPPGYLRQGWTTPEGSRAFTQWPVG;Ontology_term=ECO:0000303,ECO:00003 |
| Q9HBE1 | 502 | 548 | 503 | 548 | Alternative sequence | ID=VSP_008801;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15461802,ECO:0000303|Ref.4;Dbxref=PMID:10949935,PMID:15461802 |
| Q9HBE1 | 502 | 548 | 504 | 537 | Alternative sequence | ID=VSP_008799;Note=In isoform 2. FSSASYLKVHVKTHHGVPLPQVSRHQEPILNGGA->LQAPGAHPEWGSSVPLRQDLWQQRRPEMLTSGSD;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10949935;Dbxref=PMID:10949935 |
| Q9HBE1 | 502 | 548 | 538 | 687 | Alternative sequence | ID=VSP_008800;Note=In isoform 2 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10713105,ECO:0000303|PubMed:10949935,ECO:0000303|PubMed:15489334;Dbxref=PMID:10713105,PMID:10949935,PMID:15489334 |
| Q9HBE1 | 502 | 548 | 1 | 687 | Chain | ID=PRO_0000047504;Note=POZ-%2C AT hook-%2C and zinc finger-containing protein 1 |
| Q9HBE1 | 502 | 548 | 495 | 518 | Zinc finger | Note=C2H2-type 6;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in PATZ1 |
| 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 |
Top |
SNVs in the skipped exons for PATZ1 |
| - 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 |
Top |
AD stage-associated exon skippint events for PATZ1 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PATZ1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for PATZ1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TARDBP | exon_skip_34788 | -4.364966e-01 | 8.834523e-09 |
| CB | RBM6 | exon_skip_34788 | -4.256236e-01 | 2.233603e-08 |
| CB | TRA2A | exon_skip_34788 | -4.277093e-01 | 1.874272e-08 |
| CB | NUP42 | exon_skip_34788 | 4.707220e-01 | 3.817197e-10 |
| CB | RBM6 | exon_skip_84623 | -4.652851e-01 | 7.294378e-10 |
| CB | PCBP4 | exon_skip_84623 | 4.638204e-01 | 8.376659e-10 |
| CB | NUP42 | exon_skip_84623 | 4.036674e-01 | 1.446236e-07 |
| TC | RBM6 | exon_skip_34788 | -4.151129e-01 | 6.454948e-08 |
Top |
RelatedDrugs for PATZ1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for PATZ1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|