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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 ATP11C |
 Gene summary |
| Gene information | Gene symbol | ATP11C | Gene ID | 286410 |
| Gene name | ATPase phospholipid transporting 11C | |
| Synonyms | ATPIG|ATPIQ | |
| Cytomap | Xq27.1 | |
| Type of gene | protein-coding | |
| Description | phospholipid-transporting ATPase IGATPase, class VI, type 11CP4-ATPase flippase complex alpha subunit ATP11Cprobable phospholipid-transporting ATPase IG | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NB49 | |
| Context | PubMed: ATP11C [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 ATP11C 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 ATP11C |
| 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 ATP11C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516959 | X | 138810944:138811121:138813809:138813914:138814593:138814684 | 138813809:138813914 | ENSG00000101974.10 | ENST00000460773.1 |
| exon_skip_516961 | X | 138810944:138811121:138813809:138813914:138820074:138820228 | 138813809:138813914 | ENSG00000101974.10 | ENST00000327569.3,ENST00000433868.1 |
| exon_skip_516963 | X | 138810944:138811121:138819889:138819955:138820074:138820228 | 138819889:138819955 | ENSG00000101974.10 | ENST00000450801.1 |
| exon_skip_516964 | X | 138813809:138813914:138814593:138814684:138820074:138820228 | 138814593:138814684 | ENSG00000101974.10 | ENST00000460773.1 |
| exon_skip_516966 | X | 138823149:138823253:138825717:138825783:138827880:138827950 | 138825717:138825783 | ENSG00000101974.10 | ENST00000460773.1,ENST00000370543.1,ENST00000361648.2,ENST00000450801.1,ENST00000370557.1,ENST00000327569.3,ENST00000433868.1,ENST00000359686.2 |
| exon_skip_516968 | X | 138844119:138844265:138845474:138845577:138850418:138850593 | 138845474:138845577 | ENSG00000101974.10 | ENST00000370543.1,ENST00000361648.2,ENST00000327569.3,ENST00000359686.2,ENST00000471746.1 |
| exon_skip_516969 | X | 138850418:138850593:138856848:138857112:138864705:138864792 | 138856848:138857112 | ENSG00000101974.10 | ENST00000460773.1,ENST00000370543.1,ENST00000361648.2,ENST00000370557.1,ENST00000327569.3,ENST00000359686.2,ENST00000471746.1 |
| exon_skip_516970 | X | 138856848:138857112:138864705:138864887:138865322:138865426 | 138864705:138864887 | ENSG00000101974.10 | ENST00000460773.1,ENST00000370543.1,ENST00000361648.2,ENST00000370557.1,ENST00000327569.3,ENST00000359686.2 |
| exon_skip_516972 | X | 138865322:138865426:138867384:138867458:138870350:138870502 | 138867384:138867458 | ENSG00000101974.10 | ENST00000422228.1 |
| exon_skip_516973 | X | 138867384:138867458:138869331:138869403:138870350:138870502 | 138869331:138869403 | ENSG00000101974.10 | ENST00000460773.1,ENST00000370543.1,ENST00000361648.2,ENST00000370557.1,ENST00000327569.3,ENST00000359686.2 |
| exon_skip_516976 | X | 138886629:138886758:138897036:138897144:138899021:138899102 | 138897036:138897144 | ENSG00000101974.10 | ENST00000485626.1,ENST00000370543.1,ENST00000361648.2,ENST00000370557.1,ENST00000327569.3,ENST00000359686.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP11C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_516959 | X | 138810944:138811121:138813809:138813914:138814593:138814684 | 138813809:138813914 | ENSG00000101974.10 | ENST00000460773.1 |
| exon_skip_516961 | X | 138810944:138811121:138813809:138813914:138820074:138820228 | 138813809:138813914 | ENSG00000101974.10 | ENST00000433868.1,ENST00000327569.3 |
| exon_skip_516963 | X | 138810944:138811121:138819889:138819955:138820074:138820228 | 138819889:138819955 | ENSG00000101974.10 | ENST00000450801.1 |
| exon_skip_516964 | X | 138813809:138813914:138814593:138814684:138820074:138820228 | 138814593:138814684 | ENSG00000101974.10 | ENST00000460773.1 |
| exon_skip_516968 | X | 138844119:138844265:138845474:138845577:138850418:138850593 | 138845474:138845577 | ENSG00000101974.10 | ENST00000327569.3,ENST00000361648.2,ENST00000370543.1,ENST00000359686.2,ENST00000471746.1 |
| exon_skip_516969 | X | 138850418:138850593:138856848:138857112:138864705:138864792 | 138856848:138857112 | ENSG00000101974.10 | ENST00000370557.1,ENST00000327569.3,ENST00000361648.2,ENST00000460773.1,ENST00000370543.1,ENST00000359686.2,ENST00000471746.1 |
| exon_skip_516970 | X | 138856848:138857112:138864705:138864887:138865322:138865426 | 138864705:138864887 | ENSG00000101974.10 | ENST00000370557.1,ENST00000327569.3,ENST00000361648.2,ENST00000460773.1,ENST00000370543.1,ENST00000359686.2 |
| exon_skip_516972 | X | 138865322:138865426:138867384:138867458:138870350:138870502 | 138867384:138867458 | ENSG00000101974.10 | ENST00000422228.1 |
| exon_skip_516973 | X | 138867384:138867458:138869331:138869403:138870350:138870502 | 138869331:138869403 | ENSG00000101974.10 | ENST00000370557.1,ENST00000327569.3,ENST00000361648.2,ENST00000460773.1,ENST00000370543.1,ENST00000359686.2 |
| exon_skip_516976 | X | 138886629:138886758:138897036:138897144:138899021:138899102 | 138897036:138897144 | ENSG00000101974.10 | ENST00000370557.1,ENST00000327569.3,ENST00000361648.2,ENST00000370543.1,ENST00000359686.2,ENST00000485626.1 |
| 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 ATP11C |
| 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 |
| ENST00000327569 | 138813809 | 138813914 | 5CDS-5UTR |
| ENST00000327569 | 138845474 | 138845577 | Frame-shift |
| ENST00000327569 | 138864705 | 138864887 | Frame-shift |
| ENST00000327569 | 138825717 | 138825783 | In-frame |
| ENST00000327569 | 138856848 | 138857112 | In-frame |
| ENST00000327569 | 138869331 | 138869403 | In-frame |
| ENST00000327569 | 138897036 | 138897144 | 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 |
| ENST00000327569 | 138813809 | 138813914 | 5CDS-5UTR |
| ENST00000327569 | 138845474 | 138845577 | Frame-shift |
| ENST00000327569 | 138864705 | 138864887 | Frame-shift |
| ENST00000327569 | 138856848 | 138857112 | In-frame |
| ENST00000327569 | 138869331 | 138869403 | In-frame |
| ENST00000327569 | 138897036 | 138897144 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP11C |
| 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 |
| ENST00000327569 | 6132 | 1132 | 138897036 | 138897144 | 427 | 534 | 109 | 145 |
| ENST00000327569 | 6132 | 1132 | 138869331 | 138869403 | 1629 | 1700 | 510 | 533 |
| ENST00000327569 | 6132 | 1132 | 138856848 | 138857112 | 2061 | 2324 | 654 | 741 |
| ENST00000327569 | 6132 | 1132 | 138825717 | 138825783 | 3073 | 3138 | 991 | 1013 |
| 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 |
| ENST00000327569 | 6132 | 1132 | 138897036 | 138897144 | 427 | 534 | 109 | 145 |
| ENST00000327569 | 6132 | 1132 | 138869331 | 138869403 | 1629 | 1700 | 510 | 533 |
| ENST00000327569 | 6132 | 1132 | 138856848 | 138857112 | 2061 | 2324 | 654 | 741 |
| 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 ATP11C |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516966 | 138825718 | 138825783 | 138825748 | 138825748 | Frame_Shift_Del | A | - | p.F997fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516966 | 138825718 | 138825783 | 138825748 | 138825748 | Frame_Shift_Del | A | - | p.F997fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516966 | 138825718 | 138825783 | 138825763 | 138825763 | Frame_Shift_Del | A | - | p.F992fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_516969 | 138856849 | 138857112 | 138856955 | 138856955 | Frame_Shift_Del | T | - | p.T704fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_516969 | 138856849 | 138857112 | 138856955 | 138856955 | Frame_Shift_Del | T | - | p.T704fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516969 | 138856849 | 138857112 | 138856962 | 138856962 | Frame_Shift_Del | G | - | p.T702fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516969 | 138856849 | 138857112 | 138856997 | 138856997 | Frame_Shift_Del | G | - | p.L690fs |
| LGG | TCGA-HT-8564-01 | exon_skip_516973 | 138869332 | 138869403 | 138869332 | 138869334 | Frame_Shift_Del | TCT | - | p.534_534del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516973 | 138869332 | 138869403 | 138869386 | 138869386 | Frame_Shift_Del | A | - | p.L513fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_516973 | 138869332 | 138869403 | 138869386 | 138869386 | Frame_Shift_Del | A | - | p.L516fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_516973 | 138869332 | 138869403 | 138869386 | 138869386 | Frame_Shift_Del | A | - | p.L513fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_516973 | 138869332 | 138869403 | 138869397 | 138869397 | Frame_Shift_Del | C | - | p.G509fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516976 | 138897037 | 138897144 | 138897042 | 138897042 | Frame_Shift_Del | T | - | p.I141fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_516976 | 138897037 | 138897144 | 138897096 | 138897096 | Frame_Shift_Del | T | - | p.S123fs |
| STAD | TCGA-BR-4361-01 | exon_skip_516970 | 138864706 | 138864887 | 138864772 | 138864773 | Frame_Shift_Ins | - | T | p.M632fs |
| STAD | TCGA-BR-4361-01 | exon_skip_516970 | 138864706 | 138864887 | 138864773 | 138864774 | Frame_Shift_Ins | - | T | p.M632fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_516976 | 138897037 | 138897144 | 138897041 | 138897042 | Frame_Shift_Ins | - | T | p.Q141fs |
| COAD | TCGA-CA-6717-01 | exon_skip_516961 exon_skip_516959 | 138813810 | 138813914 | 138813845 | 138813845 | Nonsense_Mutation | G | A | p.R1123X |
| CESC | TCGA-Q1-A73P-01 | exon_skip_516961 exon_skip_516959 | 138813810 | 138813914 | 138813883 | 138813883 | Nonsense_Mutation | G | T | p.S1110* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_516969 | 138856849 | 138857112 | 138856925 | 138856925 | Nonsense_Mutation | G | A | p.R717* |
| UCEC | TCGA-B5-A11N-01 | exon_skip_516969 | 138856849 | 138857112 | 138856925 | 138856925 | Nonsense_Mutation | G | A | p.R717* |
| LUSC | TCGA-33-4532-01 | exon_skip_516969 | 138856849 | 138857112 | 138857060 | 138857060 | Nonsense_Mutation | T | A | p.K672* |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_516970 | 138864706 | 138864887 | 138864854 | 138864854 | Nonsense_Mutation | C | A | p.E605* |
| UCEC | TCGA-D1-A16X-01 | exon_skip_516973 | 138869332 | 138869403 | 138869378 | 138869378 | Nonsense_Mutation | G | A | p.R519* |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_516970 | 138864706 | 138864887 | 138864889 | 138864889 | Splice_Site | T | A | . |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_516972 | 138867385 | 138867458 | 138867459 | 138867459 | Splice_Site | C | A | e16-1 |
| - 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 |
| LS180_LARGE_INTESTINE | 138864706 | 138864887 | 138864800 | 138864800 | Frame_Shift_Del | T | - | p.M623fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 138813810 | 138813914 | 138813821 | 138813821 | Missense_Mutation | C | T | p.V1131I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813821 | 138813821 | Missense_Mutation | C | T | p.V1131I |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813821 | 138813821 | Missense_Mutation | C | T | p.V1131I |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813821 | 138813821 | Missense_Mutation | C | T | p.V1131I |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813836 | 138813836 | Missense_Mutation | A | G | p.S1126P |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813868 | 138813868 | Missense_Mutation | G | A | p.P1115L |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138813810 | 138813914 | 138813868 | 138813868 | Missense_Mutation | G | A | p.P1115L |
| VMRCMELG_SKIN | 138845475 | 138845577 | 138845543 | 138845543 | Missense_Mutation | G | A | p.P812L |
| HS695T_SKIN | 138856849 | 138857112 | 138856874 | 138856874 | Missense_Mutation | G | A | p.P734S |
| MDAMB157_BREAST | 138856849 | 138857112 | 138856902 | 138856902 | Missense_Mutation | T | G | p.E724D |
| CS1_BONE | 138856849 | 138857112 | 138856914 | 138856914 | Missense_Mutation | T | A | p.E720D |
| MDAMB415_BREAST | 138856849 | 138857112 | 138856970 | 138856970 | Missense_Mutation | C | T | p.E702K |
| LOVO_LARGE_INTESTINE | 138856849 | 138857112 | 138857014 | 138857014 | Missense_Mutation | G | A | p.T687I |
| TE159T_FIBROBLAST | 138864706 | 138864887 | 138864751 | 138864751 | Missense_Mutation | A | G | p.I639T |
| LS1034_LARGE_INTESTINE | 138864706 | 138864887 | 138864758 | 138864758 | Missense_Mutation | C | T | p.D637N |
| SNGM_ENDOMETRIUM | 138867385 | 138867458 | 138867424 | 138867424 | Missense_Mutation | C | T | p.V546I |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 138869332 | 138869403 | 138869341 | 138869341 | Missense_Mutation | T | A | p.E531V |
| JHUEM7_ENDOMETRIUM | 138869332 | 138869403 | 138869347 | 138869347 | Missense_Mutation | C | A | p.R529I |
| HEC251_ENDOMETRIUM | 138897037 | 138897144 | 138897098 | 138897098 | Missense_Mutation | T | G | p.K125T |
| MFM223_BREAST | 138897037 | 138897144 | 138897138 | 138897138 | Missense_Mutation | C | G | p.E112Q |
| HEC108_ENDOMETRIUM | 138897037 | 138897144 | 138897138 | 138897138 | Missense_Mutation | C | T | p.E112K |
| HCC2998_LARGE_INTESTINE | 138856849 | 138857112 | 138856925 | 138856925 | Nonsense_Mutation | G | A | p.R717* |
| WM35_SKIN | 138869332 | 138869403 | 138869378 | 138869378 | Nonsense_Mutation | G | A | p.R519* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP11C |
| 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 ATP11C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP11C |
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RelatedDrugs for ATP11C |
| 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 ATP11C |
| 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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