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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180519 | |
| UniProtAcc | Q9HBE1 | |
| Context | PubMed: PATZ1 [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 PATZ1 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 PATZ1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PATZ1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368737 | 22 | 31723062:31723295:31724772:31724845:31731677:31731849 | 31724772:31724845 | ENSG00000100105.13 | ENST00000405309.3 |
| exon_skip_368739 | 22 | 31723062:31723295:31724772:31724910:31731677:31731849 | 31724772:31724910 | ENSG00000100105.13 | ENST00000266269.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PATZ1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_368737 | 22 | 31723062:31723295:31724772:31724845:31731677:31731849 | 31724772:31724845 | ENSG00000100105.13 | ENST00000405309.3 |
| exon_skip_368739 | 22 | 31723062:31723295:31724772:31724910:31731677:31731849 | 31724772:31724910 | ENSG00000100105.13 | ENST00000266269.5 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PATZ1 |
| 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 |
| ENST00000266269 | 31724772 | 31724910 | In-frame |
| 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 |
| ENST00000266269 | 31724772 | 31724910 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PATZ1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| 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 |
| ENST00000266269 | 3798 | 687 | 31724772 | 31724910 | 2138 | 2275 | 502 | 548 |
| 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 |
| ENST00000266269 | 3798 | 687 | 31724772 | 31724910 | 2138 | 2275 | 502 | 548 |
| 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 |
| 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 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 |
| 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 |
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SNVs in the skipped exons for PATZ1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
PATZ1_LIHC_exon_skip_368737_psi_boxplot.png |
PATZ1_LIHC_exon_skip_368739_psi_boxplot.png |
| - 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-EP-A2KB-01 | exon_skip_368737 | 31724773 | 31724845 | 31724792 | 31724792 | Nonsense_Mutation | G | A | p.Q521X |
| LIHC | TCGA-EP-A2KB-01 | exon_skip_368739 | 31724773 | 31724910 | 31724792 | 31724792 | Nonsense_Mutation | G | A | p.Q521X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EP-A2KB-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368739 | |
| Skipped exon start: 31724773 | |
| Skipped exon end: 31724910 | |
| Mutation start: 31724792 | |
| Mutation end: 31724792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q521X | |
| Sample: TCGA-EP-A2KB-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368737 | |
| Skipped exon start: 31724773 | |
| Skipped exon end: 31724845 | |
| Mutation start: 31724792 | |
| Mutation end: 31724792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q521X | |
exon_skip_368737_LIHC_TCGA-EP-A2KB-01.png | |
exon_skip_368739_LIHC_TCGA-EP-A2KB-01.png | |
exon_skip_37056_LIHC_TCGA-EP-A2KB-01.png | |
 | Sample: TCGA-EP-A2KB-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368739 | |
| Skipped exon start: 31724773 | |
| Skipped exon end: 31724910 | |
| Mutation start: 31724792 | |
| Mutation end: 31724792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q521X | |
| Sample: TCGA-EP-A2KB-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_368737 | |
| Skipped exon start: 31724773 | |
| Skipped exon end: 31724845 | |
| Mutation start: 31724792 | |
| Mutation end: 31724792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q521X | |
| exon_skip_368737_LIHC_TCGA-EP-A2KB-01.png | |
| exon_skip_368739_LIHC_TCGA-EP-A2KB-01.png | |
| exon_skip_37056_LIHC_TCGA-EP-A2KB-01.png | |
| - 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 |
| SNU175_LARGE_INTESTINE | 31724773 | 31724910 | 31724805 | 31724805 | Missense_Mutation | G | A | p.A538V |
| SNU175_LARGE_INTESTINE | 31724773 | 31724845 | 31724805 | 31724805 | Missense_Mutation | G | A | p.A538V |
| LNCAPCLONEFGC_PROSTATE | 31724773 | 31724910 | 31724823 | 31724823 | Missense_Mutation | A | T | p.I532N |
| LNCAPCLONEFGC_PROSTATE | 31724773 | 31724845 | 31724823 | 31724823 | Missense_Mutation | A | T | p.I532N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PATZ1 |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PATZ1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PATZ1 |
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RelatedDrugs for PATZ1 |
| 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 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)
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