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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 ATP6V0D2 |
 Gene summary |
| Gene information | Gene symbol | ATP6V0D2 | Gene ID | 245972 |
| Gene name | ATPase H+ transporting V0 subunit d2 | |
| Synonyms | ATP6D2|VMA6 | |
| Cytomap | 8q21.3 | |
| Type of gene | protein-coding | |
| Description | V-type proton ATPase subunit d 2ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2V-ATPase subunit d 2vacuolar proton pump subunit d 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8N8Y2 | |
| Context | PubMed: ATP6V0D2 [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 ATP6V0D2 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 ATP6V0D2 |
| 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 ATP6V0D2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484327 | 8 | 87111132:87111337:87125937:87126109:87151685:87151864 | 87125937:87126109 | ENSG00000147614.3 | ENST00000285393.3 |
| exon_skip_484336 | 8 | 87125937:87126109:87151685:87151864:87153678:87153758 | 87151685:87151864 | ENSG00000147614.3 | ENST00000285393.3 |
| exon_skip_484339 | 8 | 87153678:87153758:87155105:87155183:87162340:87162517 | 87155105:87155183 | ENSG00000147614.3 | ENST00000285393.3 |
| exon_skip_484342 | 8 | 87155105:87155183:87162340:87162517:87163694:87163769 | 87162340:87162517 | ENSG00000147614.3 | ENST00000285393.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP6V0D2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_484327 | 8 | 87111132:87111337:87125937:87126109:87151685:87151864 | 87125937:87126109 | ENSG00000147614.3 | ENST00000285393.3 |
| exon_skip_484336 | 8 | 87125937:87126109:87151685:87151864:87153678:87153758 | 87151685:87151864 | ENSG00000147614.3 | ENST00000285393.3 |
| exon_skip_484339 | 8 | 87153678:87153758:87155105:87155183:87162340:87162517 | 87155105:87155183 | ENSG00000147614.3 | ENST00000285393.3 |
| 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 ATP6V0D2 |
| 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 |
| ENST00000285393 | 87125937 | 87126109 | Frame-shift |
| ENST00000285393 | 87151685 | 87151864 | Frame-shift |
| ENST00000285393 | 87155105 | 87155183 | In-frame |
| ENST00000285393 | 87162340 | 87162517 | 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 |
| ENST00000285393 | 87125937 | 87126109 | Frame-shift |
| ENST00000285393 | 87151685 | 87151864 | Frame-shift |
| ENST00000285393 | 87155105 | 87155183 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP6V0D2 |
| 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 |
| ENST00000285393 | 2463 | 350 | 87155105 | 87155183 | 704 | 781 | 187 | 213 |
| ENST00000285393 | 2463 | 350 | 87162340 | 87162517 | 782 | 958 | 213 | 272 |
| 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 |
| ENST00000285393 | 2463 | 350 | 87155105 | 87155183 | 704 | 781 | 187 | 213 |
| 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 |
| Q8N8Y2 | 187 | 213 | 1 | 350 | Chain | ID=PRO_0000285657;Note=V-type proton ATPase subunit d 2 |
| Q8N8Y2 | 213 | 272 | 1 | 350 | Chain | ID=PRO_0000285657;Note=V-type proton ATPase subunit d 2 |
| Q8N8Y2 | 213 | 272 | 272 | 272 | Natural variant | ID=VAR_032039;Note=G->R;Dbxref=dbSNP:rs10094744 |
| 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 |
| Q8N8Y2 | 187 | 213 | 1 | 350 | Chain | ID=PRO_0000285657;Note=V-type proton ATPase subunit d 2 |
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SNVs in the skipped exons for ATP6V0D2 |
| - 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-AD-6889-01 | exon_skip_484327 | 87125938 | 87126109 | 87126033 | 87126033 | Frame_Shift_Del | A | - | p.R75fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_484336 | 87151686 | 87151864 | 87151738 | 87151738 | Frame_Shift_Del | A | - | p.K120fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_484342 | 87162341 | 87162517 | 87162417 | 87162417 | Frame_Shift_Del | C | - | p.T239fs |
| SKCM | TCGA-D9-A6EC-06 | exon_skip_484342 | 87162341 | 87162517 | 87162450 | 87162450 | Frame_Shift_Del | A | - | p.E250fs |
| LUAD | TCGA-73-4670-01 | exon_skip_484327 | 87125938 | 87126109 | 87126054 | 87126054 | Nonsense_Mutation | G | T | p.E83* |
| STAD | TCGA-BR-A4CS-01 | exon_skip_484327 | 87125938 | 87126109 | 87125937 | 87125937 | Splice_Site | G | T | p.D44_splice |
| UCS | TCGA-ND-A4WC-01 | exon_skip_484339 | 87155106 | 87155183 | 87155104 | 87155104 | Splice_Site | A | C | . |
| - 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 |
| IGROV1_OVARY | 87151686 | 87151864 | 87151738 | 87151738 | Frame_Shift_Del | A | - | p.K120fs |
| RCCFG2_KIDNEY | 87155106 | 87155183 | 87155121 | 87155126 | In_Frame_Del | TTCTAT | - | p.FY193del |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87125938 | 87126109 | 87125941 | 87125941 | Missense_Mutation | T | C | p.L45P |
| M14_SKIN | 87125938 | 87126109 | 87125949 | 87125949 | Missense_Mutation | C | T | p.H48Y |
| SNU1040_LARGE_INTESTINE | 87125938 | 87126109 | 87125950 | 87125950 | Missense_Mutation | A | G | p.H48R |
| MCC13_SKIN | 87125938 | 87126109 | 87125964 | 87125964 | Missense_Mutation | G | A | p.D53N |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 87125938 | 87126109 | 87125964 | 87125964 | Missense_Mutation | G | A | p.D53N |
| SNU175_LARGE_INTESTINE | 87125938 | 87126109 | 87125998 | 87125998 | Missense_Mutation | C | A | p.P64H |
| HEC108_ENDOMETRIUM | 87125938 | 87126109 | 87126024 | 87126024 | Missense_Mutation | G | A | p.E73K |
| JHUEM7_ENDOMETRIUM | 87125938 | 87126109 | 87126052 | 87126052 | Missense_Mutation | T | G | p.F82C |
| NCIH1568_LUNG | 87125938 | 87126109 | 87126081 | 87126081 | Missense_Mutation | C | A | p.P92T |
| NCIH1963_LUNG | 87151686 | 87151864 | 87151753 | 87151753 | Missense_Mutation | G | A | p.E124K |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87151686 | 87151864 | 87151766 | 87151766 | Missense_Mutation | A | C | p.K128T |
| HEC108_ENDOMETRIUM | 87151686 | 87151864 | 87151840 | 87151840 | Missense_Mutation | G | A | p.A153T |
| NCIH1688_LUNG | 87155106 | 87155183 | 87155134 | 87155134 | Missense_Mutation | G | T | p.C197F |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87155106 | 87155183 | 87155175 | 87155175 | Missense_Mutation | A | G | p.I211V |
| KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 87162341 | 87162517 | 87162375 | 87162375 | Missense_Mutation | T | C | p.L225P |
| HDQP1_BREAST | 87162341 | 87162517 | 87162459 | 87162459 | Missense_Mutation | G | A | p.R253Q |
| C80_LARGE_INTESTINE | 87125938 | 87126109 | 87126109 | 87126109 | Splice_Site | C | T | p.T101M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP6V0D2 |
| 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 ATP6V0D2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP6V0D2 |
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RelatedDrugs for ATP6V0D2 |
| 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 ATP6V0D2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATP6V0D2 | C0029927 | Ovarian Cysts | 1 | CTD_human |
| ATP6V0D2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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