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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 ATP2C1 |
 Gene summary |
| Gene information | Gene symbol | ATP2C1 | Gene ID | 27032 |
| Gene name | ATPase secretory pathway Ca2+ transporting 1 | |
| Synonyms | ATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1 | |
| Cytomap | 3q22.1 | |
| Type of gene | protein-coding | |
| Description | calcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P98194 | |
| Context | PubMed: ATP2C1 [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 |
| ATP2C1 | GO:0006816 | calcium ion transport | 12810057 |
| ATP2C1 | GO:0006874 | cellular calcium ion homeostasis | 12810057 |
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Exon skipping events across known transcript of Ensembl for ATP2C1 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 ATP2C1 |
| 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 ATP2C1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377596 | 3 | 130569626:130569772:130573029:130573113:130574724:130575067 | 130573029:130573113 | ENSG00000017260.15 | ENST00000509150.1 |
| exon_skip_377599 | 3 | 130613025:130613181:130613433:130613619:130649259:130649370 | 130613433:130613619 | ENSG00000017260.15 | ENST00000510168.1 |
| exon_skip_377600 | 3 | 130613025:130613181:130613551:130613619:130649259:130649370 | 130613551:130613619 | ENSG00000017260.15 | ENST00000508532.1 |
| exon_skip_377602 | 3 | 130613025:130613181:130613574:130613619:130649259:130649370 | 130613574:130613619 | ENSG00000017260.15 | ENST00000505072.1 |
| exon_skip_377604 | 3 | 130649259:130649370:130650865:130650982:130653465:130653525 | 130650865:130650982 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000505330.1,ENST00000328560.8,ENST00000359644.3,ENST00000508297.1,ENST00000504948.1,ENST00000428331.2,ENST00000510168.1,ENST00000505072.1,ENST00000508532.1,ENST00000509662.1,ENST00000393221.4,ENST00000507488.2 |
| exon_skip_377606 | 3 | 130653465:130653555:130656271:130656307:130659473:130659535 | 130656271:130656307 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000328560.8,ENST00000359644.3,ENST00000504948.1,ENST00000428331.2,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENST00000504612.1,ENST00000507488.2 |
| exon_skip_377613 | 3 | 130685988:130686084:130686173:130686263:130688135:130688240 | 130686173:130686263 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000504571.1,ENST00000328560.8,ENST00000359644.3,ENST00000504948.1,ENST00000428331.2,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENS |
| exon_skip_377614 | 3 | 130686231:130686263:130688135:130688240:130694175:130694332 | 130688135:130688240 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000504571.1,ENST00000328560.8,ENST00000359644.3,ENST00000504948.1,ENST00000428331.2,ENST00000508660.1,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENS |
| exon_skip_377622 | 3 | 130694274:130694332:130698092:130698263:130699425:130699523 | 130698092:130698263 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000328560.8,ENST00000359644.3,ENST00000504948.1,ENST00000428331.2,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENST00000504612.1,ENS |
| exon_skip_377626 | 3 | 130694180:130694332:130699425:130699523:130711794:130711845 | 130699425:130699523 | ENSG00000017260.15 | ENST00000508660.1 |
| exon_skip_377630 | 3 | 130715596:130715640:130716449:130716597:130717137:130717233 | 130716449:130716597 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000328560.8,ENST00000359644.3,ENST00000507194.1,ENST00000504948.1,ENST00000428331.2,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENS |
| exon_skip_377631 | 3 | 130717137:130717233:130718361:130718503:130720063:130720158 | 130718361:130718503 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000359644.3,ENST00000507194.1,ENST00000504948.1,ENST00000428331.2,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENST00000504612.1,ENS |
| exon_skip_377633 | 3 | 130717137:130717233:130718361:130718503:130734995:130735400 | 130718361:130718503 | ENSG00000017260.15 | ENST00000328560.8 |
| exon_skip_377643 | 3 | 130718416:130718503:130720063:130720158:130734995:130735400 | 130720063:130720158 | ENSG00000017260.15 | ENST00000422190.2,ENST00000513801.1,ENST00000393221.4,ENST00000507488.2 |
| exon_skip_377646 | 3 | 130718416:130718503:130720063:130720188:130734995:130735400 | 130720063:130720188 | ENSG00000017260.15 | ENST00000533801.2,ENST00000359644.3,ENST00000504381.1,ENST00000504612.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ATP2C1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377596 | 3 | 130569626:130569772:130573029:130573113:130574724:130575067 | 130573029:130573113 | ENSG00000017260.15 | ENST00000509150.1 |
| exon_skip_377599 | 3 | 130613025:130613181:130613433:130613619:130649259:130649370 | 130613433:130613619 | ENSG00000017260.15 | ENST00000510168.1 |
| exon_skip_377600 | 3 | 130613025:130613181:130613551:130613619:130649259:130649370 | 130613551:130613619 | ENSG00000017260.15 | ENST00000508532.1 |
| exon_skip_377602 | 3 | 130613025:130613181:130613574:130613619:130649259:130649370 | 130613574:130613619 | ENSG00000017260.15 | ENST00000505072.1 |
| exon_skip_377604 | 3 | 130649259:130649370:130650865:130650982:130653465:130653525 | 130650865:130650982 | ENSG00000017260.15 | ENST00000505330.1,ENST00000507488.2,ENST00000393221.4,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000505072.1,ENST00000509662.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000508297.1 |
| exon_skip_377606 | 3 | 130653465:130653555:130656271:130656307:130659473:130659535 | 130656271:130656307 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1 |
| exon_skip_377613 | 3 | 130685988:130686084:130686173:130686263:130688135:130688240 | 130686173:130686263 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1,ENS |
| exon_skip_377614 | 3 | 130686231:130686263:130688135:130688240:130694175:130694332 | 130688135:130688240 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1,ENS |
| exon_skip_377622 | 3 | 130694274:130694332:130698092:130698263:130699425:130699523 | 130698092:130698263 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1,ENS |
| exon_skip_377626 | 3 | 130694180:130694332:130699425:130699523:130711794:130711845 | 130699425:130699523 | ENSG00000017260.15 | ENST00000508660.1 |
| exon_skip_377630 | 3 | 130715596:130715640:130716449:130716597:130717137:130717233 | 130716449:130716597 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000328560.8,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1,ENS |
| exon_skip_377631 | 3 | 130717137:130717233:130718361:130718503:130720063:130720158 | 130718361:130718503 | ENSG00000017260.15 | ENST00000505330.1,ENST00000504381.1,ENST00000507488.2,ENST00000393221.4,ENST00000533801.2,ENST00000510168.1,ENST00000508532.1,ENST00000504948.1,ENST00000513801.1,ENST00000428331.2,ENST00000359644.3,ENST00000422190.2,ENST00000504612.1,ENST00000514654.1,ENS |
| exon_skip_377633 | 3 | 130717137:130717233:130718361:130718503:130734995:130735400 | 130718361:130718503 | ENSG00000017260.15 | ENST00000328560.8 |
| exon_skip_377643 | 3 | 130718416:130718503:130720063:130720158:130734995:130735400 | 130720063:130720158 | ENSG00000017260.15 | ENST00000507488.2,ENST00000393221.4,ENST00000513801.1,ENST00000422190.2 |
| exon_skip_377646 | 3 | 130718416:130718503:130720063:130720188:130734995:130735400 | 130720063:130720188 | ENSG00000017260.15 | ENST00000504381.1,ENST00000533801.2,ENST00000359644.3,ENST00000504612.1 |
| 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 ATP2C1 |
| 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 |
| ENST00000510168 | 130613433 | 130613619 | 5CDS-5UTR |
| ENST00000508532 | 130613551 | 130613619 | 5CDS-5UTR |
| ENST00000428331 | 130716449 | 130716597 | Frame-shift |
| ENST00000508532 | 130716449 | 130716597 | Frame-shift |
| ENST00000510168 | 130716449 | 130716597 | Frame-shift |
| ENST00000428331 | 130718361 | 130718503 | Frame-shift |
| ENST00000508532 | 130718361 | 130718503 | Frame-shift |
| ENST00000510168 | 130718361 | 130718503 | Frame-shift |
| ENST00000428331 | 130650865 | 130650982 | In-frame |
| ENST00000508532 | 130650865 | 130650982 | In-frame |
| ENST00000510168 | 130650865 | 130650982 | In-frame |
| ENST00000428331 | 130656271 | 130656307 | In-frame |
| ENST00000508532 | 130656271 | 130656307 | In-frame |
| ENST00000510168 | 130656271 | 130656307 | In-frame |
| ENST00000428331 | 130686173 | 130686263 | In-frame |
| ENST00000508532 | 130686173 | 130686263 | In-frame |
| ENST00000510168 | 130686173 | 130686263 | In-frame |
| ENST00000428331 | 130688135 | 130688240 | In-frame |
| ENST00000508532 | 130688135 | 130688240 | In-frame |
| ENST00000510168 | 130688135 | 130688240 | In-frame |
| ENST00000428331 | 130698092 | 130698263 | In-frame |
| ENST00000508532 | 130698092 | 130698263 | In-frame |
| ENST00000510168 | 130698092 | 130698263 | 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 |
| ENST00000510168 | 130613433 | 130613619 | 5CDS-5UTR |
| ENST00000508532 | 130613551 | 130613619 | 5CDS-5UTR |
| ENST00000428331 | 130716449 | 130716597 | Frame-shift |
| ENST00000508532 | 130716449 | 130716597 | Frame-shift |
| ENST00000510168 | 130716449 | 130716597 | Frame-shift |
| ENST00000428331 | 130718361 | 130718503 | Frame-shift |
| ENST00000508532 | 130718361 | 130718503 | Frame-shift |
| ENST00000510168 | 130718361 | 130718503 | Frame-shift |
| ENST00000428331 | 130650865 | 130650982 | In-frame |
| ENST00000508532 | 130650865 | 130650982 | In-frame |
| ENST00000510168 | 130650865 | 130650982 | In-frame |
| ENST00000428331 | 130656271 | 130656307 | In-frame |
| ENST00000508532 | 130656271 | 130656307 | In-frame |
| ENST00000510168 | 130656271 | 130656307 | In-frame |
| ENST00000428331 | 130686173 | 130686263 | In-frame |
| ENST00000508532 | 130686173 | 130686263 | In-frame |
| ENST00000510168 | 130686173 | 130686263 | In-frame |
| ENST00000428331 | 130688135 | 130688240 | In-frame |
| ENST00000508532 | 130688135 | 130688240 | In-frame |
| ENST00000510168 | 130688135 | 130688240 | In-frame |
| ENST00000428331 | 130698092 | 130698263 | In-frame |
| ENST00000508532 | 130698092 | 130698263 | In-frame |
| ENST00000510168 | 130698092 | 130698263 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ATP2C1 |
| 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 |
| ENST00000428331 | 4812 | 919 | 130650865 | 130650982 | 353 | 469 | 39 | 78 |
| ENST00000508532 | 4986 | 919 | 130650865 | 130650982 | 527 | 643 | 39 | 78 |
| ENST00000510168 | 5084 | 919 | 130650865 | 130650982 | 668 | 784 | 39 | 78 |
| ENST00000428331 | 4812 | 919 | 130656271 | 130656307 | 560 | 595 | 108 | 120 |
| ENST00000508532 | 4986 | 919 | 130656271 | 130656307 | 734 | 769 | 108 | 120 |
| ENST00000510168 | 5084 | 919 | 130656271 | 130656307 | 875 | 910 | 108 | 120 |
| ENST00000428331 | 4812 | 919 | 130686173 | 130686263 | 1454 | 1543 | 406 | 436 |
| ENST00000508532 | 4986 | 919 | 130686173 | 130686263 | 1628 | 1717 | 406 | 436 |
| ENST00000510168 | 5084 | 919 | 130686173 | 130686263 | 1769 | 1858 | 406 | 436 |
| ENST00000428331 | 4812 | 919 | 130688135 | 130688240 | 1544 | 1648 | 436 | 471 |
| ENST00000508532 | 4986 | 919 | 130688135 | 130688240 | 1718 | 1822 | 436 | 471 |
| ENST00000510168 | 5084 | 919 | 130688135 | 130688240 | 1859 | 1963 | 436 | 471 |
| ENST00000428331 | 4812 | 919 | 130698092 | 130698263 | 1806 | 1976 | 523 | 580 |
| ENST00000508532 | 4986 | 919 | 130698092 | 130698263 | 1980 | 2150 | 523 | 580 |
| ENST00000510168 | 5084 | 919 | 130698092 | 130698263 | 2121 | 2291 | 523 | 580 |
| 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 |
| ENST00000428331 | 4812 | 919 | 130650865 | 130650982 | 353 | 469 | 39 | 78 |
| ENST00000508532 | 4986 | 919 | 130650865 | 130650982 | 527 | 643 | 39 | 78 |
| ENST00000510168 | 5084 | 919 | 130650865 | 130650982 | 668 | 784 | 39 | 78 |
| ENST00000428331 | 4812 | 919 | 130656271 | 130656307 | 560 | 595 | 108 | 120 |
| ENST00000508532 | 4986 | 919 | 130656271 | 130656307 | 734 | 769 | 108 | 120 |
| ENST00000510168 | 5084 | 919 | 130656271 | 130656307 | 875 | 910 | 108 | 120 |
| ENST00000428331 | 4812 | 919 | 130686173 | 130686263 | 1454 | 1543 | 406 | 436 |
| ENST00000508532 | 4986 | 919 | 130686173 | 130686263 | 1628 | 1717 | 406 | 436 |
| ENST00000510168 | 5084 | 919 | 130686173 | 130686263 | 1769 | 1858 | 406 | 436 |
| ENST00000428331 | 4812 | 919 | 130688135 | 130688240 | 1544 | 1648 | 436 | 471 |
| ENST00000508532 | 4986 | 919 | 130688135 | 130688240 | 1718 | 1822 | 436 | 471 |
| ENST00000510168 | 5084 | 919 | 130688135 | 130688240 | 1859 | 1963 | 436 | 471 |
| ENST00000428331 | 4812 | 919 | 130698092 | 130698263 | 1806 | 1976 | 523 | 580 |
| ENST00000508532 | 4986 | 919 | 130698092 | 130698263 | 1980 | 2150 | 523 | 580 |
| ENST00000510168 | 5084 | 919 | 130698092 | 130698263 | 2121 | 2291 | 523 | 580 |
| 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 ATP2C1 |
| - 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. |
ATP2C1_COAD_exon_skip_377604_psi_boxplot.png |
| - 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_377606 | 130656272 | 130656307 | 130656299 | 130656299 | Frame_Shift_Del | T | - | p.F118fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_377614 | 130688136 | 130688240 | 130688200 | 130688200 | Frame_Shift_Del | A | - | p.Q458fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_377622 | 130698093 | 130698263 | 130698148 | 130698148 | Frame_Shift_Del | G | - | p.V542fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_377633 exon_skip_377631 | 130718362 | 130718503 | 130718404 | 130718404 | Frame_Shift_Del | T | - | p.F844fs |
| LUSC | TCGA-66-2770-01 | exon_skip_377606 | 130656272 | 130656307 | 130656305 | 130656305 | Nonsense_Mutation | C | T | p.Q154* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_377626 | 130699426 | 130699523 | 130699476 | 130699476 | Nonsense_Mutation | G | T | p.E598* |
| COAD | TCGA-CK-5916-01 | exon_skip_377604 | 130650866 | 130650982 | 130650984 | 130650984 | Splice_Site | T | C | . |
| COAD | TCGA-AZ-4315-01 | exon_skip_377606 | 130656272 | 130656307 | 130656309 | 130656309 | Splice_Site | T | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CK-5916-01 |
| Cancer type: COAD | |
| ESID: exon_skip_377604 | |
| Skipped exon start: 130650866 | |
| Skipped exon end: 130650982 | |
| Mutation start: 130650984 | |
| Mutation end: 130650984 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_307669_COAD_TCGA-CK-5916-01.png | |
exon_skip_339350_COAD_TCGA-CK-5916-01.png | |
exon_skip_339352_COAD_TCGA-CK-5916-01.png | |
exon_skip_377604_COAD_TCGA-CK-5916-01.png | |
exon_skip_470072_COAD_TCGA-CK-5916-01.png | |
exon_skip_503611_COAD_TCGA-CK-5916-01.png | |
exon_skip_51385_COAD_TCGA-CK-5916-01.png | |
| - 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 |
| SW684_SOFT_TISSUE | 130688136 | 130688240 | 130688193 | 130688204 | In_Frame_Del | TCTGAGCAAAAG | - | p.SEQK456del |
| ESO51_OESOPHAGUS | 130650866 | 130650982 | 130650954 | 130650954 | Missense_Mutation | A | G | p.E69G |
| NB10_AUTONOMIC_GANGLIA | 130686174 | 130686263 | 130686178 | 130686178 | Missense_Mutation | G | A | p.G408D |
| NCIH2342_LUNG | 130688136 | 130688240 | 130688139 | 130688139 | Missense_Mutation | G | T | p.G438C |
| NCIH2087_LUNG | 130698093 | 130698263 | 130698104 | 130698104 | Missense_Mutation | G | A | p.A528T |
| JHUEM1_ENDOMETRIUM | 130698093 | 130698263 | 130698174 | 130698174 | Missense_Mutation | G | A | p.G551D |
| DU145_PROSTATE | 130698093 | 130698263 | 130698257 | 130698257 | Missense_Mutation | G | A | p.A579T |
| MDAMB231_BREAST | 130699426 | 130699523 | 130699447 | 130699447 | Missense_Mutation | C | T | p.S588F |
| MDAMB453_BREAST | 130699426 | 130699523 | 130699476 | 130699476 | Missense_Mutation | G | A | p.E598K |
| NCIH2722_PLEURA | 130716450 | 130716597 | 130716484 | 130716484 | Missense_Mutation | C | T | p.R760C |
| 2313287_STOMACH | 130716450 | 130716597 | 130716497 | 130716497 | Missense_Mutation | G | A | p.R764H |
| A498_KIDNEY | 130718362 | 130718503 | 130718366 | 130718366 | Missense_Mutation | A | C | p.K831T |
| LC1SQSF_LUNG | 130718362 | 130718503 | 130718429 | 130718429 | Missense_Mutation | T | C | p.I852T |
| LC1SQ_LUNG | 130718362 | 130718503 | 130718429 | 130718429 | Missense_Mutation | T | C | p.I852T |
| JHUEM7_ENDOMETRIUM | 130718362 | 130718503 | 130718497 | 130718497 | Missense_Mutation | A | C | p.I875L |
| EFO27_OVARY | 130720064 | 130720158 | 130720108 | 130720108 | Missense_Mutation | G | A | p.A892T |
| EFO27_OVARY | 130720064 | 130720188 | 130720108 | 130720108 | Missense_Mutation | G | A | p.A892T |
| NCIH187_LUNG | 130718362 | 130718503 | 130718377 | 130718377 | Nonsense_Mutation | G | T | p.E835* |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130720064 | 130720158 | 130720065 | 130720066 | Splice_Site | - | AAG | p.877_878insK |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130720064 | 130720188 | 130720065 | 130720066 | Splice_Site | - | AAG | p.877_878insK |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ATP2C1 |
| 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 |
| exon_skip_377633 | 3 | 130717137:130717233:130718361:130718503:130734995:130735400 | 130718361:130718503 | ENST00000328560.8 | PAAD | rs16835513 | chr3:130718472 | G/A | 1.38e-04 |
| exon_skip_377631 | 3 | 130717137:130717233:130718361:130718503:130720063:130720158 | 130718361:130718503 | ENST00000422190.2,ENST00000513801.1,ENST00000533801.2,ENST00000505330.1,ENST00000359644.3,ENST00000507194.1,ENST00000504948.1,ENST00000428331.2,ENST00000514654.1,ENST00000510168.1,ENST00000508532.1,ENST00000504381.1,ENST00000393221.4,ENST00000504612.1,ENS | PAAD | rs16835513 | chr3:130718472 | G/A | 1.38e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP2C1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ATP2C1 |
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RelatedDrugs for ATP2C1 |
| 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 |
| P98194 | DB01189 | Desflurane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved | |
| P98194 | DB00228 | Enflurane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|investigational|vet_approved | |
| P98194 | DB01028 | Methoxyflurane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|investigational|vet_approved | |
| P98194 | DB01373 | Calcium | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|nutraceutical | |
| P98194 | DB00753 | Isoflurane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|vet_approved | |
| P98194 | DB01159 | Halothane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|vet_approved | |
| P98194 | DB01236 | Sevoflurane | Calcium-transporting ATPase type 2C member 1 | small molecule | approved|vet_approved |
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RelatedDiseases for ATP2C1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ATP2C1 | C0085106 | Familial benign pemphigus | 7 | CTD_human;ORPHANET;UNIPROT |
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