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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 ATP8B3 |
 Gene summary |
| Gene information | Gene symbol | ATP8B3 | Gene ID | 148229 |
| Gene name | ATPase phospholipid transporting 8B3 | |
| Synonyms | ATPIK | |
| Cytomap | 19p13.3 | |
| Type of gene | protein-coding | |
| Description | phospholipid-transporting ATPase IKATPase, aminophospholipid transporter, class I, type 8B, member 3ATPase, class I, type 8B, member 3aminophospholipid translocase ATP8B3potential phospholipid-transporting ATPase IKprobable phospholipid-transporting | |
| Modification date | 20180523 | |
| UniProtAcc | O60423 | |
| Context | PubMed: ATP8B3 [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 ATP8B3 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 ATP8B3 |
| 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 ATP8B3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_312674 | 19 | 1784817:1784945:1785157:1785296:1785467:1785707 | 1785157:1785296 | ENSG00000130270.12 | ENST00000531925.1,ENST00000310127.6,ENST00000539485.1,ENST00000525591.1 |
| exon_skip_312676 | 19 | 1789359:1789613:1789888:1789988:1790755:1790816 | 1789888:1789988 | ENSG00000130270.12 | ENST00000531925.1 |
| exon_skip_312678 | 19 | 1789359:1789726:1789888:1789988:1790755:1790816 | 1789888:1789988 | ENSG00000130270.12 | ENST00000310127.6,ENST00000539485.1,ENST00000525591.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP8B3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_312674 | 19 | 1784817:1784945:1785157:1785296:1785467:1785707 | 1785157:1785296 | ENSG00000130270.12 | ENST00000310127.6,ENST00000531925.1,ENST00000539485.1,ENST00000525591.1 |
| exon_skip_312676 | 19 | 1789359:1789613:1789888:1789988:1790755:1790816 | 1789888:1789988 | ENSG00000130270.12 | ENST00000531925.1 |
| exon_skip_312678 | 19 | 1789359:1789726:1789888:1789988:1790755:1790816 | 1789888:1789988 | ENSG00000130270.12 | ENST00000310127.6,ENST00000539485.1,ENST00000525591.1 |
| 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 ATP8B3 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ATP8B3 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for ATP8B3 |
| - 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. |
| - 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 |
| COAD | TCGA-A6-5665-01 | exon_skip_312674 | 1785158 | 1785296 | 1785177 | 1785177 | Frame_Shift_Del | G | - | p.T1135fs |
| STAD | TCGA-HU-8602-01 | exon_skip_312674 | 1785158 | 1785296 | 1785177 | 1785177 | Frame_Shift_Del | G | - | p.P1171fs |
| BLCA | TCGA-FD-A3N5-01 | exon_skip_312674 | 1785158 | 1785296 | 1785276 | 1785276 | Nonsense_Mutation | G | C | p.Y1138* |
| BLCA | TCGA-FD-A3N5-01 | exon_skip_312674 | 1785158 | 1785296 | 1785276 | 1785276 | Nonsense_Mutation | G | C | p.Y1148* |
| - 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 |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 1789889 | 1789988 | 1789986 | 1789986 | Missense_Mutation | C | T | p.R794H |
| C33A_CERVIX | 1785158 | 1785296 | 1785159 | 1785159 | Splice_Site | C | T | p.L1177L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP8B3 |
| 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 ATP8B3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP8B3 |
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RelatedDrugs for ATP8B3 |
| 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 ATP8B3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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