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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for ZBTB16 |
Gene summary |
Gene information | Gene symbol | ZBTB16 | Gene ID | 7704 |
Gene name | zinc finger and BTB domain containing 16 | |
Synonyms | PLZF|ZNF145 | |
Cytomap | 11q23.2 | |
Type of gene | protein-coding | |
Description | zinc finger and BTB domain-containing protein 16promyelocytic leukaemia zinc fingerzinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)zinc finger protein PLZF | |
Modification date | 20180523 | |
UniProtAcc | Q05516 | |
Context | PubMed: ZBTB16 [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 |
ZBTB16 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12802276 |
ZBTB16 | GO:0030097 | hemopoiesis | 8541544 |
ZBTB16 | GO:0045778 | positive regulation of ossification | 21547890 |
ZBTB16 | GO:0045892 | negative regulation of transcription, DNA-templated | 12802276|24359566 |
ZBTB16 | GO:0045893 | positive regulation of transcription, DNA-templated | 21547890 |
ZBTB16 | GO:0051216 | cartilage development | 21547890 |
ZBTB16 | GO:0061036 | positive regulation of cartilage development | 21547890 |
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Exon skipping events across known transcript of Ensembl for ZBTB16 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 ZBTB16 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ZBTB16 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_65024 | 11 | 113930458:113930604:113932092:113932283:113933932:113934368 | 113932092:113932283 | ENSG00000109906.9 | ENST00000544220.1 |
exon_skip_65026 | 11 | 113935133:113935290:113992539:113992636:114027058:114027156 | 113992539:113992636 | ENSG00000109906.9 | ENST00000539918.1 |
exon_skip_65027 | 11 | 113935133:113935290:114027058:114027156:114057673:114057760 | 114027058:114027156 | ENSG00000109906.9 | ENST00000392996.2,ENST00000541602.1,ENST00000335953.4 |
exon_skip_65030 | 11 | 114027058:114027156:114057673:114057760:114112888:114113059 | 114057673:114057760 | ENSG00000109906.9 | ENST00000539918.1,ENST00000392996.2,ENST00000335953.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ZBTB16 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_65024 | 11 | 113930458:113930604:113932092:113932283:113933932:113934368 | 113932092:113932283 | ENSG00000109906.9 | ENST00000544220.1 |
exon_skip_65026 | 11 | 113935133:113935290:113992539:113992636:114027058:114027156 | 113992539:113992636 | ENSG00000109906.9 | ENST00000539918.1 |
exon_skip_65027 | 11 | 113935133:113935290:114027058:114027156:114057673:114057760 | 114027058:114027156 | ENSG00000109906.9 | ENST00000335953.4,ENST00000541602.1,ENST00000392996.2 |
exon_skip_65030 | 11 | 114027058:114027156:114057673:114057760:114112888:114113059 | 114057673:114057760 | ENSG00000109906.9 | ENST00000335953.4,ENST00000392996.2,ENST00000539918.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ZBTB16 |
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 |
ENST00000335953 | 114027058 | 114027156 | Frame-shift |
ENST00000392996 | 114027058 | 114027156 | Frame-shift |
ENST00000335953 | 114057673 | 114057760 | In-frame |
ENST00000392996 | 114057673 | 114057760 | 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 |
ENST00000335953 | 114027058 | 114027156 | Frame-shift |
ENST00000392996 | 114027058 | 114027156 | Frame-shift |
ENST00000335953 | 114057673 | 114057760 | In-frame |
ENST00000392996 | 114057673 | 114057760 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZBTB16 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
ENST00000335953 | 2540 | 673 | 114057673 | 114057760 | 1747 | 1833 | 455 | 484 |
ENST00000392996 | 2304 | 673 | 114057673 | 114057760 | 1535 | 1621 | 455 | 484 |
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 |
ENST00000335953 | 2540 | 673 | 114057673 | 114057760 | 1747 | 1833 | 455 | 484 |
ENST00000392996 | 2304 | 673 | 114057673 | 114057760 | 1535 | 1621 | 455 | 484 |
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 |
Q05516 | 455 | 484 | 1 | 673 | Chain | ID=PRO_0000047729;Note=Zinc finger and BTB domain-containing protein 16 |
Q05516 | 455 | 484 | 1 | 673 | Chain | ID=PRO_0000047729;Note=Zinc finger and BTB domain-containing protein 16 |
Q05516 | 455 | 484 | 461 | 483 | Zinc finger | Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
Q05516 | 455 | 484 | 461 | 483 | Zinc finger | Note=C2H2-type 3;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 |
Q05516 | 455 | 484 | 1 | 673 | Chain | ID=PRO_0000047729;Note=Zinc finger and BTB domain-containing protein 16 |
Q05516 | 455 | 484 | 1 | 673 | Chain | ID=PRO_0000047729;Note=Zinc finger and BTB domain-containing protein 16 |
Q05516 | 455 | 484 | 461 | 483 | Zinc finger | Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
Q05516 | 455 | 484 | 461 | 483 | Zinc finger | Note=C2H2-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00042 |
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SNVs in the skipped exons for ZBTB16 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- Differential PSIs between mutated versus non-mutated samples. |
- 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 |
- Depth of coverage in the three exons composing exon skipping event |
Depth of coverage in three exons | Mutation description |
- 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 |
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114027059 | 114027156 | 114027064 | 114027064 | Missense_Mutation | T | C | p.L425P |
CW2_LARGE_INTESTINE | 114027059 | 114027156 | 114027076 | 114027076 | Missense_Mutation | T | C | p.M429T |
HT115_LARGE_INTESTINE | 114027059 | 114027156 | 114027126 | 114027126 | Missense_Mutation | C | T | p.R446W |
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 114057674 | 114057760 | 114057704 | 114057704 | Missense_Mutation | G | A | p.C466Y |
SKNBE2_AUTONOMIC_GANGLIA | 114057674 | 114057760 | 114057748 | 114057748 | Missense_Mutation | C | A | p.Q481K |
SNU81_LARGE_INTESTINE | 114057674 | 114057760 | 114057752 | 114057752 | Missense_Mutation | C | A | p.T482N |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ZBTB16 |
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 ZBTB16 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ZBTB16 |
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RelatedDrugs for ZBTB16 |
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 ZBTB16 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
ZBTB16 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human;ORPHANET |
ZBTB16 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
ZBTB16 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
ZBTB16 | C0041696 | Unipolar Depression | 1 | PSYGENET |
ZBTB16 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
ZBTB16 | C2676231 | Skeletal Defects, Genital Hypoplasia, And Mental Retardation | 1 | CTD_human;UNIPROT |