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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for ZBBX |
 Gene summary |
| Gene information | Gene symbol | ZBBX | Gene ID | 79740 |
| Gene name | zinc finger B-box domain containing | |
| Synonyms | - | |
| Cytomap | 3q26.1 | |
| Type of gene | protein-coding | |
| Description | zinc finger B-box domain-containing protein 1 | |
| 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 ZBBX |
| 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. |
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ENSG00000169064
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | DOWN | ENST00000392766.6 | ZBBX-203:protein_coding:ZBBX | 3.584222e+01 | -1.072095e+00 | 1.608554e-03 | 2.048937e-02 |
| PG | DOWN | ENST00000473888.1 | ZBBX-209:retained_intron:ZBBX | 1.860954e+00 | -1.022164e+00 | 2.536557e-03 | 2.828712e-02 |
| CB | DOWN | ENST00000465071.1 | ZBBX-207:retained_intron:ZBBX | 8.499325e-01 | -1.281776e+00 | 5.686844e-03 | 2.188775e-02 |
| 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 ZBBX |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102064 | chr3 | 167242505:167242643:167252126:167252211:167282238:167282321 | 167252126:167252211 |
| exon_skip_116427 | chr3 | 167248608:167248649:167252126:167252211:167282238:167282321 | 167252126:167252211 |
| exon_skip_119602 | chr3 | 167372834:167372950:167373706:167373787:167380247:167380283 | 167373706:167373787 |
| exon_skip_126951 | chr3 | 167372834:167372950:167379638:167379792:167380247:167380283 | 167379638:167379792 |
| exon_skip_130234 | chr3 | 167373706:167373787:167379638:167379792:167380247:167380283 | 167379638:167379792 |
| exon_skip_138730 | chr3 | 167242505:167242643:167248608:167248649:167252126:167252211 | 167248608:167248649 |
| exon_skip_163947 | chr3 | 167240638:167240919:167242505:167242643:167282238:167282321 | 167242505:167242643 |
| exon_skip_16803 | chr3 | 167248608:167248649:167252126:167252211:167282238:167282459 | 167252126:167252211 |
| exon_skip_170703 | chr3 | 167333827:167333985:167350420:167350515:167359870:167359979 | 167350420:167350515 |
| exon_skip_17577 | chr3 | 167282238:167282495:167298305:167298458:167305643:167305947 | 167298305:167298458 |
| exon_skip_202504 | chr3 | 167282238:167282495:167288867:167288983:167298305:167298458 | 167288867:167288983 |
| exon_skip_204939 | chr3 | 167372834:167372950:167373706:167373787:167379638:167379790 | 167373706:167373787 |
| exon_skip_227897 | chr3 | 167242505:167242643:167248608:167248649:167282238:167282321 | 167248608:167248649 |
| exon_skip_22790 | chr3 | 167313974:167314116:167315750:167315829:167317005:167317105 | 167315750:167315829 |
| exon_skip_239880 | chr3 | 167359870:167359979:167360675:167360723:167365886:167365976 | 167360675:167360723 |
| exon_skip_252305 | chr3 | 167242505:167242643:167248608:167248649:167282238:167282459 | 167248608:167248649 |
| exon_skip_280914 | chr3 | 167282238:167282495:167298305:167298458:167305643:167305950 | 167298305:167298458 |
| exon_skip_295435 | chr3 | 167327942:167328116:167333827:167333985:167350420:167350515 | 167333827:167333985 |
| exon_skip_49906 | chr3 | 167368461:167368574:167368688:167368804:167372834:167372950 | 167368688:167368804 |
| exon_skip_87250 | chr3 | 167240638:167240919:167242505:167242643:167252126:167252211 | 167242505:167242643 |
| exon_skip_91985 | chr3 | 167360675:167360723:167365886:167365976:167368461:167368574 | 167365886:167365976 |
| 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 ZBBX |
| 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 |
| ENST00000392766 | 167373706 | 167373787 | 3UTR-3UTR |
| ENST00000392766 | 167242505 | 167242643 | Frame-shift |
| ENST00000392766 | 167298305 | 167298458 | Frame-shift |
| ENST00000392766 | 167315750 | 167315829 | Frame-shift |
| ENST00000392766 | 167365886 | 167365976 | Frame-shift |
| ENST00000392766 | 167333827 | 167333985 | 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 |
| ENST00000392766 | 167373706 | 167373787 | 3UTR-3UTR |
| ENST00000392766 | 167242505 | 167242643 | Frame-shift |
| ENST00000392766 | 167298305 | 167298458 | Frame-shift |
| ENST00000392766 | 167315750 | 167315829 | Frame-shift |
| ENST00000392766 | 167360675 | 167360723 | Frame-shift |
| ENST00000392766 | 167365886 | 167365976 | Frame-shift |
| ENST00000392766 | 167333827 | 167333985 | 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 |
| ENST00000392766 | 167373706 | 167373787 | 3UTR-3UTR |
| ENST00000392766 | 167242505 | 167242643 | Frame-shift |
| ENST00000392766 | 167298305 | 167298458 | Frame-shift |
| ENST00000392766 | 167315750 | 167315829 | Frame-shift |
| ENST00000392766 | 167333827 | 167333985 | In-frame |
| ENST00000392766 | 167350420 | 167350515 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ZBBX |
p-ENSG00000169064_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 |
| ENST00000392766 | 3267 | 800 | 167333827 | 167333985 | 870 | 1027 | 176 | 228 |
| 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 |
| ENST00000392766 | 3267 | 800 | 167333827 | 167333985 | 870 | 1027 | 176 | 228 |
| 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 |
| ENST00000392766 | 3267 | 800 | 167350420 | 167350515 | 774 | 868 | 144 | 175 |
| ENST00000392766 | 3267 | 800 | 167333827 | 167333985 | 870 | 1027 | 176 | 228 |
| 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 |
| A8MT70 | 176 | 228 | 1 | 800 | Chain | ID=PRO_0000325813;Note=Zinc finger B-box domain-containing protein 1 |
| A8MT70 | 176 | 228 | 178 | 178 | Natural variant | ID=VAR_048402;Note=K->R;Dbxref=dbSNP:rs11923054 |
| 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 |
| A8MT70 | 176 | 228 | 1 | 800 | Chain | ID=PRO_0000325813;Note=Zinc finger B-box domain-containing protein 1 |
| A8MT70 | 176 | 228 | 178 | 178 | Natural variant | ID=VAR_048402;Note=K->R;Dbxref=dbSNP:rs11923054 |
| 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 |
| A8MT70 | 144 | 175 | 1 | 800 | Chain | ID=PRO_0000325813;Note=Zinc finger B-box domain-containing protein 1 |
| A8MT70 | 144 | 175 | 160 | 160 | Natural variant | ID=VAR_048401;Note=K->N;Dbxref=dbSNP:rs4619784 |
| A8MT70 | 144 | 175 | 129 | 175 | Zinc finger | Note=B box-type%3B atypical |
| A8MT70 | 176 | 228 | 1 | 800 | Chain | ID=PRO_0000325813;Note=Zinc finger B-box domain-containing protein 1 |
| A8MT70 | 176 | 228 | 178 | 178 | Natural variant | ID=VAR_048402;Note=K->R;Dbxref=dbSNP:rs11923054 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ZBBX |
| 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 |
| Mayo | ENST00000392766 | 167373706 | 167373787 | hsa-miR-7158-5p | chr3:167373746-167373753 | 8mer-1a | chr3:167373730-167373753 | 154.00 | -19.59 |
| Mayo | ENST00000392766 | 167373706 | 167373787 | hsa-miR-877-3p | chr3:167373773-167373780 | 8mer-1a | chr3:167373755-167373781 | 157.00 | -22.27 |
| MSBB | ENST00000392766 | 167373706 | 167373787 | hsa-miR-7158-5p | chr3:167373746-167373753 | 8mer-1a | chr3:167373730-167373753 | 154.00 | -19.59 |
| MSBB | ENST00000392766 | 167373706 | 167373787 | hsa-miR-877-3p | chr3:167373773-167373780 | 8mer-1a | chr3:167373755-167373781 | 157.00 | -22.27 |
| ROSMAP | ENST00000392766 | 167373706 | 167373787 | hsa-miR-7158-5p | chr3:167373746-167373753 | 8mer-1a | chr3:167373730-167373753 | 154.00 | -19.59 |
| ROSMAP | ENST00000392766 | 167373706 | 167373787 | hsa-miR-877-3p | chr3:167373773-167373780 | 8mer-1a | chr3:167373755-167373781 | 157.00 | -22.27 |
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SNVs in the skipped exons for ZBBX |
| - 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 ZBBX |
| 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 ZBBX |
| 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 ZBBX |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for ZBBX |
| 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 ZBBX |
| 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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