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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 ATP9A |
 Gene summary |
| Gene information | Gene symbol | ATP9A | Gene ID | 10079 |
| Gene name | ATPase phospholipid transporting 9A (putative) | |
| Synonyms | ATPIIA | |
| Cytomap | 20q13.2 | |
| Type of gene | protein-coding | |
| Description | probable phospholipid-transporting ATPase IIAATPase type IV, phospholipid-transporting (P-type),(putative)ATPase, class II, type 9Aphospholipid-transporting ATPase IIA | |
| Modification date | 20180523 | |
| UniProtAcc | O75110 | |
| Context | PubMed: ATP9A [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 ATP9A 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 ATP9A |
| 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 ATP9A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358097 | 20 | 50221355:50221559:50224065:50224123:50225056:50225165 | 50224065:50224123 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358102 | 20 | 50225056:50225165:50226639:50226704:50230215:50230371 | 50226639:50226704 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358103 | 20 | 50230215:50230371:50234028:50234093:50235200:50235345 | 50234028:50234093 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358105 | 20 | 50235492:50235582:50238612:50238711:50241730:50241901 | 50238612:50238711 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358108 | 20 | 50244138:50244222:50245518:50245611:50255881:50256043 | 50245518:50245611 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358109 | 20 | 50245518:50245611:50255881:50256043:50273476:50273689 | 50255881:50256043 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358110 | 20 | 50255881:50256043:50273476:50273689:50286535:50286648 | 50273476:50273689 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358111 | 20 | 50287653:50287796:50290691:50290852:50292670:50292747 | 50290691:50290852 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358113 | 20 | 50292670:50292747:50305602:50305678:50307277:50307358 | 50305602:50305678 | ENSG00000054793.9 | ENST00000338821.5 |
| exon_skip_358116 | 20 | 50307277:50307358:50310546:50310641:50312631:50312683 | 50310546:50310641 | ENSG00000054793.9 | ENST00000338821.5 |
| exon_skip_358118 | 20 | 50329504:50329613:50342357:50342471:50346372:50346517 | 50342357:50342471 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5,ENST00000311637.5 |
| exon_skip_358121 | 20 | 50342357:50342471:50346372:50346517:50384840:50384867 | 50346372:50346517 | ENSG00000054793.9 | ENST00000402822.1,ENST00000338821.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP9A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358097 | 20 | 50221355:50221559:50224065:50224123:50225056:50225165 | 50224065:50224123 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358102 | 20 | 50225056:50225165:50226639:50226704:50230215:50230371 | 50226639:50226704 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358103 | 20 | 50230215:50230371:50234028:50234093:50235200:50235345 | 50234028:50234093 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358105 | 20 | 50235492:50235582:50238612:50238711:50241730:50241901 | 50238612:50238711 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358108 | 20 | 50244138:50244222:50245518:50245611:50255881:50256043 | 50245518:50245611 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358111 | 20 | 50287653:50287796:50290691:50290852:50292670:50292747 | 50290691:50290852 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358113 | 20 | 50292670:50292747:50305602:50305678:50307277:50307358 | 50305602:50305678 | ENSG00000054793.9 | ENST00000338821.5 |
| exon_skip_358116 | 20 | 50307277:50307358:50310546:50310641:50312631:50312683 | 50310546:50310641 | ENSG00000054793.9 | ENST00000338821.5 |
| exon_skip_358118 | 20 | 50329504:50329613:50342357:50342471:50346372:50346517 | 50342357:50342471 | ENSG00000054793.9 | ENST00000311637.5,ENST00000338821.5,ENST00000402822.1 |
| exon_skip_358121 | 20 | 50342357:50342471:50346372:50346517:50384840:50384867 | 50346372:50346517 | ENSG00000054793.9 | ENST00000338821.5,ENST00000402822.1 |
| 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 ATP9A |
| 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 |
| ENST00000338821 | 50224065 | 50224123 | Frame-shift |
| ENST00000338821 | 50226639 | 50226704 | Frame-shift |
| ENST00000338821 | 50234028 | 50234093 | Frame-shift |
| ENST00000338821 | 50290691 | 50290852 | Frame-shift |
| ENST00000338821 | 50305602 | 50305678 | Frame-shift |
| ENST00000338821 | 50310546 | 50310641 | Frame-shift |
| ENST00000338821 | 50346372 | 50346517 | Frame-shift |
| ENST00000338821 | 50238612 | 50238711 | In-frame |
| ENST00000338821 | 50245518 | 50245611 | In-frame |
| ENST00000338821 | 50255881 | 50256043 | In-frame |
| ENST00000338821 | 50273476 | 50273689 | In-frame |
| ENST00000338821 | 50342357 | 50342471 | 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 |
| ENST00000338821 | 50224065 | 50224123 | Frame-shift |
| ENST00000338821 | 50226639 | 50226704 | Frame-shift |
| ENST00000338821 | 50234028 | 50234093 | Frame-shift |
| ENST00000338821 | 50290691 | 50290852 | Frame-shift |
| ENST00000338821 | 50305602 | 50305678 | Frame-shift |
| ENST00000338821 | 50310546 | 50310641 | Frame-shift |
| ENST00000338821 | 50346372 | 50346517 | Frame-shift |
| ENST00000338821 | 50238612 | 50238711 | In-frame |
| ENST00000338821 | 50245518 | 50245611 | In-frame |
| ENST00000338821 | 50342357 | 50342471 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP9A |
| 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 |
| ENST00000338821 | 8123 | 1047 | 50342357 | 50342471 | 479 | 592 | 71 | 109 |
| ENST00000338821 | 8123 | 1047 | 50273476 | 50273689 | 1559 | 1771 | 431 | 502 |
| ENST00000338821 | 8123 | 1047 | 50255881 | 50256043 | 1772 | 1933 | 502 | 556 |
| ENST00000338821 | 8123 | 1047 | 50245518 | 50245611 | 1934 | 2026 | 556 | 587 |
| ENST00000338821 | 8123 | 1047 | 50238612 | 50238711 | 2282 | 2380 | 672 | 705 |
| 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 |
| ENST00000338821 | 8123 | 1047 | 50342357 | 50342471 | 479 | 592 | 71 | 109 |
| ENST00000338821 | 8123 | 1047 | 50245518 | 50245611 | 1934 | 2026 | 556 | 587 |
| ENST00000338821 | 8123 | 1047 | 50238612 | 50238711 | 2282 | 2380 | 672 | 705 |
| 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 ATP9A |
| - 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 |
| PAAD | TCGA-HZ-8636-01 | exon_skip_358105 | 50238613 | 50238711 | 50238628 | 50238635 | Frame_Shift_Del | GATGTCTT | - | p.698_701del |
| PAAD | TCGA-HZ-8636-01 | exon_skip_358105 | 50238613 | 50238711 | 50238628 | 50238635 | Frame_Shift_Del | GATGTCTT | - | p.QDI698fs |
| LUAD | TCGA-44-7667-01 | exon_skip_358109 | 50255882 | 50256043 | 50255995 | 50255995 | Frame_Shift_Del | G | - | p.R519fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_358110 | 50273477 | 50273689 | 50273570 | 50273570 | Frame_Shift_Del | G | - | p.P471fs |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_358118 | 50342358 | 50342471 | 50342378 | 50342379 | Frame_Shift_Del | AG | - | p.103_103del |
| STAD | TCGA-VQ-A8DL-01 | exon_skip_358118 | 50342358 | 50342471 | 50342378 | 50342379 | Frame_Shift_Del | AG | - | p.LY102fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358121 | 50346373 | 50346517 | 50346423 | 50346423 | Frame_Shift_Del | G | - | p.R55fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_358121 | 50346373 | 50346517 | 50346454 | 50346454 | Frame_Shift_Del | C | - | p.G44fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_358121 | 50346373 | 50346517 | 50346454 | 50346454 | Frame_Shift_Del | C | - | p.H45fs |
| BLCA | TCGA-FD-A6TG-01 | exon_skip_358113 | 50305603 | 50305678 | 50305661 | 50305662 | Frame_Shift_Ins | - | G | p.P247fs |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_358102 | 50226640 | 50226704 | 50226659 | 50226659 | Nonsense_Mutation | G | A | p.Q873* |
| COAD | TCGA-AA-A00E-01 | exon_skip_358103 | 50234029 | 50234093 | 50234050 | 50234050 | Nonsense_Mutation | G | T | p.C798X |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_358108 | 50245519 | 50245611 | 50245527 | 50245527 | Nonsense_Mutation | C | A | p.E585* |
| ESCA | TCGA-L5-A8NR-01 | exon_skip_358108 | 50245519 | 50245611 | 50245527 | 50245527 | Nonsense_Mutation | C | A | p.E585X |
| SARC | TCGA-IS-A3K7-01 | exon_skip_358109 | 50255882 | 50256043 | 50255956 | 50255956 | Nonsense_Mutation | G | A | p.Q532* |
| STAD | TCGA-F1-6874-01 | exon_skip_358121 | 50346373 | 50346517 | 50346505 | 50346505 | Nonsense_Mutation | C | T | p.W27* |
| STAD | TCGA-F1-6874-01 | exon_skip_358121 | 50346373 | 50346517 | 50346505 | 50346505 | Nonsense_Mutation | C | T | p.W27X |
| - 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 |
| NCIH2170_LUNG | 50238613 | 50238711 | 50238677 | 50238688 | In_Frame_Del | GCTGTCTCCAGC | - | p.680_684KLETA>N |
| SW756_CERVIX | 50224066 | 50224123 | 50224105 | 50224105 | Missense_Mutation | T | C | p.K922E |
| C33A_CERVIX | 50224066 | 50224123 | 50224119 | 50224119 | Missense_Mutation | C | T | p.R917Q |
| TGBC11TKB_STOMACH | 50224066 | 50224123 | 50224119 | 50224119 | Missense_Mutation | C | T | p.R917Q |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50238613 | 50238711 | 50238668 | 50238668 | Missense_Mutation | G | A | p.T687I |
| JHU028_LUNG | 50238613 | 50238711 | 50238687 | 50238687 | Missense_Mutation | G | C | p.L681V |
| PACADD137_PANCREAS | 50245519 | 50245611 | 50245581 | 50245581 | Missense_Mutation | T | C | p.M567V |
| OVCAR8_OVARY | 50255882 | 50256043 | 50255890 | 50255890 | Missense_Mutation | T | C | p.I554V |
| MM415_SKIN | 50255882 | 50256043 | 50255968 | 50255968 | Missense_Mutation | T | C | p.T528A |
| RL952_ENDOMETRIUM | 50273477 | 50273689 | 50273503 | 50273503 | Missense_Mutation | C | T | p.V494I |
| CP67MEL_SKIN | 50273477 | 50273689 | 50273503 | 50273503 | Missense_Mutation | C | T | p.V494I |
| HEC108_ENDOMETRIUM | 50273477 | 50273689 | 50273505 | 50273505 | Missense_Mutation | C | T | p.R493H |
| HCC366_LUNG | 50273477 | 50273689 | 50273533 | 50273534 | Missense_Mutation | CC | AA | p.483_484EA>DS |
| HCC366_LUNG | 50273477 | 50273689 | 50273534 | 50273534 | Missense_Mutation | C | A | p.E483D |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50290692 | 50290852 | 50290724 | 50290724 | Missense_Mutation | G | T | p.F335L |
| MFE319_ENDOMETRIUM | 50290692 | 50290852 | 50290743 | 50290743 | Missense_Mutation | T | C | p.Y329C |
| MM383_SKIN | 50290692 | 50290852 | 50290765 | 50290765 | Missense_Mutation | G | T | p.Q322K |
| HCT116_LARGE_INTESTINE | 50290692 | 50290852 | 50290777 | 50290777 | Missense_Mutation | T | C | p.M318V |
| CH157MN_CENTRAL_NERVOUS_SYSTEM | 50290692 | 50290852 | 50290819 | 50290819 | Missense_Mutation | T | C | p.T304A |
| NY_BONE | 50290692 | 50290852 | 50290822 | 50290822 | Missense_Mutation | G | A | p.L303F |
| SNU1040_LARGE_INTESTINE | 50305603 | 50305678 | 50305609 | 50305609 | Missense_Mutation | C | T | p.A265T |
| GP2D_LARGE_INTESTINE | 50305603 | 50305678 | 50305611 | 50305611 | Missense_Mutation | A | G | p.V264A |
| GP5D_LARGE_INTESTINE | 50305603 | 50305678 | 50305611 | 50305611 | Missense_Mutation | A | G | p.V264A |
| ES1_BONE | 50305603 | 50305678 | 50305618 | 50305618 | Missense_Mutation | T | A | p.T262S |
| RKO_LARGE_INTESTINE | 50305603 | 50305678 | 50305627 | 50305627 | Missense_Mutation | A | G | p.W259R |
| SNU1040_LARGE_INTESTINE | 50310547 | 50310641 | 50310552 | 50310552 | Missense_Mutation | C | T | p.A213T |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50310547 | 50310641 | 50310576 | 50310576 | Missense_Mutation | C | A | p.A205S |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50342358 | 50342471 | 50342368 | 50342368 | Missense_Mutation | C | A | p.W106L |
| HCC1569_BREAST | 50342358 | 50342471 | 50342440 | 50342440 | Missense_Mutation | T | C | p.N82S |
| BFTC909_KIDNEY | 50346373 | 50346517 | 50346381 | 50346381 | Missense_Mutation | G | A | p.L69F |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 50346373 | 50346517 | 50346399 | 50346399 | Missense_Mutation | A | G | p.Y63H |
| MEWO_SKIN | 50346373 | 50346517 | 50346425 | 50346425 | Missense_Mutation | G | A | p.P54L |
| MEWO_SKIN | 50346373 | 50346517 | 50346425 | 50346426 | Missense_Mutation | GG | AA | p.P54F |
| MEWO_SKIN | 50346373 | 50346517 | 50346426 | 50346426 | Missense_Mutation | G | A | p.P54S |
| GB1_CENTRAL_NERVOUS_SYSTEM | 50346373 | 50346517 | 50346429 | 50346429 | Missense_Mutation | A | C | p.Y53D |
| GB1_CENTRAL_NERVOUS_SYSTEM | 50346373 | 50346517 | 50346429 | 50346430 | Missense_Mutation | AC | CT | p.Y53D |
| NCIH1568_LUNG | 50238613 | 50238711 | 50238706 | 50238706 | Nonsense_Mutation | C | T | p.W674* |
| HCT15_LARGE_INTESTINE | 50346373 | 50346517 | 50346505 | 50346505 | Nonsense_Mutation | C | T | p.W27* |
| TE125T_FIBROBLAST | 50234029 | 50234093 | 50234029 | 50234029 | Splice_Site | C | T | p.K805K |
| NCIH661_LUNG | 50346373 | 50346517 | 50346373 | 50346373 | Splice_Site | C | A | p.G71G |
| NCIH1573_LUNG | 50346373 | 50346517 | 50346373 | 50346373 | Splice_Site | C | A | p.G71G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP9A |
| 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 ATP9A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP9A |
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RelatedDrugs for ATP9A |
| 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 ATP9A |
| 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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