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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 TMEM63A |
 Gene summary |
| Gene information | Gene symbol | TMEM63A | Gene ID | 9725 |
| Gene name | transmembrane protein 63A | |
| Synonyms | KIAA0792 | |
| Cytomap | 1q42.12 | |
| Type of gene | protein-coding | |
| Description | CSC1-like protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | O94886 | |
| Context | PubMed: TMEM63A [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 TMEM63A 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 TMEM63A |
| 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 TMEM63A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37520 | 1 | 226034839:226034914:226035910:226036085:226036192:226036251 | 226035910:226036085 | ENSG00000196187.7 | ENST00000482753.1 |
| exon_skip_37523 | 1 | 226034839:226034914:226036192:226036255:226036597:226036689 | 226036192:226036255 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37530 | 1 | 226036192:226036255:226036597:226036713:226037612:226037780 | 226036597:226036713 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37542 | 1 | 226040364:226040470:226041329:226041492:226043578:226043641 | 226041329:226041492 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37548 | 1 | 226041329:226041492:226043578:226043641:226044352:226044439 | 226043578:226043641 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37554 | 1 | 226043578:226043641:226044352:226044439:226044610:226044717 | 226044352:226044439 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37562 | 1 | 226044404:226044439:226044610:226044717:226046895:226047049 | 226044610:226044717 | ENSG00000196187.7 | ENST00000366835.3,ENST00000487971.1 |
| exon_skip_37566 | 1 | 226046895:226047049:226048559:226048697:226049917:226050051 | 226048559:226048697 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37569 | 1 | 226050239:226050278:226050470:226050551:226053596:226053667 | 226050470:226050551 | ENSG00000196187.7 | ENST00000483779.1,ENST00000366835.3,ENST00000537914.1 |
| exon_skip_37570 | 1 | 226053596:226053667:226054273:226054382:226054811:226054863 | 226054273:226054382 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37582 | 1 | 226053596:226053750:226053832:226053908:226054273:226054382 | 226053832:226053908 | ENSG00000196187.7 | ENST00000537914.1 |
| exon_skip_37587 | 1 | 226054273:226054382:226054811:226054863:226055587:226055730 | 226054811:226054863 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37590 | 1 | 226054811:226054863:226055587:226055730:226058775:226058813 | 226055587:226055730 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37594 | 1 | 226055587:226055730:226058775:226058813:226059686:226059753 | 226058775:226058813 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37600 | 1 | 226059686:226059753:226061987:226062067:226065094:226065194 | 226061987:226062067 | ENSG00000196187.7 | ENST00000436966.1,ENST00000366835.3,ENST00000487817.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TMEM63A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_37520 | 1 | 226034839:226034914:226035910:226036085:226036192:226036251 | 226035910:226036085 | ENSG00000196187.7 | ENST00000482753.1 |
| exon_skip_37523 | 1 | 226034839:226034914:226036192:226036255:226036597:226036689 | 226036192:226036255 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37530 | 1 | 226036192:226036255:226036597:226036713:226037612:226037780 | 226036597:226036713 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37542 | 1 | 226040364:226040470:226041329:226041492:226043578:226043641 | 226041329:226041492 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37548 | 1 | 226041329:226041492:226043578:226043641:226044352:226044439 | 226043578:226043641 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37554 | 1 | 226043578:226043641:226044352:226044439:226044610:226044717 | 226044352:226044439 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37562 | 1 | 226044404:226044439:226044610:226044717:226046895:226047049 | 226044610:226044717 | ENSG00000196187.7 | ENST00000366835.3,ENST00000487971.1 |
| exon_skip_37566 | 1 | 226046895:226047049:226048559:226048697:226049917:226050051 | 226048559:226048697 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37569 | 1 | 226050239:226050278:226050470:226050551:226053596:226053667 | 226050470:226050551 | ENSG00000196187.7 | ENST00000366835.3,ENST00000537914.1,ENST00000483779.1 |
| exon_skip_37570 | 1 | 226053596:226053667:226054273:226054382:226054811:226054863 | 226054273:226054382 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37582 | 1 | 226053596:226053750:226053832:226053908:226054273:226054382 | 226053832:226053908 | ENSG00000196187.7 | ENST00000537914.1 |
| exon_skip_37587 | 1 | 226054273:226054382:226054811:226054863:226055587:226055730 | 226054811:226054863 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37590 | 1 | 226054811:226054863:226055587:226055730:226058775:226058813 | 226055587:226055730 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37594 | 1 | 226055587:226055730:226058775:226058813:226059686:226059753 | 226058775:226058813 | ENSG00000196187.7 | ENST00000366835.3 |
| exon_skip_37600 | 1 | 226059686:226059753:226061987:226062067:226065094:226065194 | 226061987:226062067 | ENSG00000196187.7 | ENST00000366835.3,ENST00000436966.1,ENST00000487817.1 |
| 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 TMEM63A |
| 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 |
| ENST00000366835 | 226036597 | 226036713 | Frame-shift |
| ENST00000366835 | 226041329 | 226041492 | Frame-shift |
| ENST00000366835 | 226044610 | 226044717 | Frame-shift |
| ENST00000366835 | 226054273 | 226054382 | Frame-shift |
| ENST00000366835 | 226054811 | 226054863 | Frame-shift |
| ENST00000366835 | 226055587 | 226055730 | Frame-shift |
| ENST00000366835 | 226058775 | 226058813 | Frame-shift |
| ENST00000366835 | 226061987 | 226062067 | Frame-shift |
| ENST00000366835 | 226036192 | 226036255 | In-frame |
| ENST00000366835 | 226043578 | 226043641 | In-frame |
| ENST00000366835 | 226044352 | 226044439 | In-frame |
| ENST00000366835 | 226048559 | 226048697 | In-frame |
| ENST00000366835 | 226050470 | 226050551 | 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 |
| ENST00000366835 | 226036597 | 226036713 | Frame-shift |
| ENST00000366835 | 226041329 | 226041492 | Frame-shift |
| ENST00000366835 | 226044610 | 226044717 | Frame-shift |
| ENST00000366835 | 226054273 | 226054382 | Frame-shift |
| ENST00000366835 | 226054811 | 226054863 | Frame-shift |
| ENST00000366835 | 226055587 | 226055730 | Frame-shift |
| ENST00000366835 | 226058775 | 226058813 | Frame-shift |
| ENST00000366835 | 226061987 | 226062067 | Frame-shift |
| ENST00000366835 | 226036192 | 226036255 | In-frame |
| ENST00000366835 | 226043578 | 226043641 | In-frame |
| ENST00000366835 | 226044352 | 226044439 | In-frame |
| ENST00000366835 | 226048559 | 226048697 | In-frame |
| ENST00000366835 | 226050470 | 226050551 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TMEM63A |
| 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 |
| ENST00000366835 | 4115 | 807 | 226050470 | 226050551 | 1018 | 1098 | 249 | 275 |
| ENST00000366835 | 4115 | 807 | 226048559 | 226048697 | 1357 | 1494 | 362 | 407 |
| ENST00000366835 | 4115 | 807 | 226044352 | 226044439 | 1756 | 1842 | 495 | 523 |
| ENST00000366835 | 4115 | 807 | 226043578 | 226043641 | 1843 | 1905 | 524 | 544 |
| ENST00000366835 | 4115 | 807 | 226036192 | 226036255 | 2459 | 2521 | 729 | 750 |
| 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 |
| ENST00000366835 | 4115 | 807 | 226050470 | 226050551 | 1018 | 1098 | 249 | 275 |
| ENST00000366835 | 4115 | 807 | 226048559 | 226048697 | 1357 | 1494 | 362 | 407 |
| ENST00000366835 | 4115 | 807 | 226044352 | 226044439 | 1756 | 1842 | 495 | 523 |
| ENST00000366835 | 4115 | 807 | 226043578 | 226043641 | 1843 | 1905 | 524 | 544 |
| ENST00000366835 | 4115 | 807 | 226036192 | 226036255 | 2459 | 2521 | 729 | 750 |
| 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 |
| O94886 | 249 | 275 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 362 | 407 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 495 | 523 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 495 | 523 | 508 | 528 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94886 | 524 | 544 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 524 | 544 | 508 | 528 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94886 | 729 | 750 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 729 | 750 | 739 | 739 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91YT8 |
| 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 |
| O94886 | 249 | 275 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 362 | 407 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 495 | 523 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 495 | 523 | 508 | 528 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94886 | 524 | 544 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 524 | 544 | 508 | 528 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O94886 | 729 | 750 | 1 | 807 | Chain | ID=PRO_0000280725;Note=CSC1-like protein 1 |
| O94886 | 729 | 750 | 739 | 739 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q91YT8 |
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SNVs in the skipped exons for TMEM63A |
| - 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_37530 | 226036598 | 226036713 | 226036634 | 226036634 | Frame_Shift_Del | A | - | p.F717fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_37562 | 226044611 | 226044717 | 226044691 | 226044691 | Frame_Shift_Del | G | - | p.P468fs |
| LUSC | TCGA-22-4593-01 | exon_skip_37566 | 226048560 | 226048697 | 226048639 | 226048639 | Frame_Shift_Del | G | - | p.Q382fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_37590 | 226055588 | 226055730 | 226055702 | 226055702 | Frame_Shift_Del | C | - | p.E134fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_37600 | 226061988 | 226062067 | 226062049 | 226062049 | Frame_Shift_Del | A | - | p.S69fs |
| STAD | TCGA-CG-5733-01 | exon_skip_37562 | 226044611 | 226044717 | 226044616 | 226044616 | Nonsense_Mutation | C | T | p.W493* |
| STAD | TCGA-CG-5733-01 | exon_skip_37562 | 226044611 | 226044717 | 226044616 | 226044616 | Nonsense_Mutation | C | T | p.W493X |
| STAD | TCGA-CG-4305-01 | exon_skip_37566 | 226048560 | 226048697 | 226048598 | 226048598 | Nonsense_Mutation | C | T | p.W395* |
| STAD | TCGA-CG-4305-01 | exon_skip_37566 | 226048560 | 226048697 | 226048598 | 226048598 | Nonsense_Mutation | C | T | p.W395X |
| SKCM | TCGA-EE-A2A2-06 | exon_skip_37590 | 226055588 | 226055730 | 226055587 | 226055587 | Splice_Site | C | T | . |
| - 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 |
| NCIH650_LUNG | 226036598 | 226036713 | 226036668 | 226036670 | In_Frame_Del | AGC | - | p.705_706LL>L |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226041330 | 226041492 | 226041346 | 226041346 | Missense_Mutation | C | T | p.R594H |
| DV90_LUNG | 226044353 | 226044439 | 226044363 | 226044363 | Missense_Mutation | C | A | p.G521C |
| HEC151_ENDOMETRIUM | 226044353 | 226044439 | 226044363 | 226044363 | Missense_Mutation | C | T | p.G521S |
| SKMEL24_SKIN | 226044353 | 226044439 | 226044383 | 226044383 | Missense_Mutation | A | G | p.V514A |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226044611 | 226044717 | 226044651 | 226044651 | Missense_Mutation | T | C | p.I482V |
| LI7_LIVER | 226044611 | 226044717 | 226044654 | 226044654 | Missense_Mutation | A | G | p.S481P |
| RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226048560 | 226048697 | 226048569 | 226048569 | Missense_Mutation | T | C | p.D405G |
| EN_ENDOMETRIUM | 226048560 | 226048697 | 226048606 | 226048606 | Missense_Mutation | A | G | p.S393P |
| HT115_LARGE_INTESTINE | 226048560 | 226048697 | 226048623 | 226048623 | Missense_Mutation | C | T | p.S387N |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226050471 | 226050551 | 226050537 | 226050537 | Missense_Mutation | G | A | p.T254M |
| LNCAPCLONEFGC_PROSTATE | 226050471 | 226050551 | 226050544 | 226050544 | Missense_Mutation | A | G | p.Y252H |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226054274 | 226054382 | 226054282 | 226054282 | Missense_Mutation | C | T | p.E223K |
| KYSE30_OESOPHAGUS | 226055588 | 226055730 | 226055652 | 226055652 | Missense_Mutation | C | A | p.L150F |
| COLO668_LUNG | 226058776 | 226058813 | 226058782 | 226058782 | Missense_Mutation | C | T | p.R122H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 226058776 | 226058813 | 226058792 | 226058792 | Missense_Mutation | C | T | p.A119T |
| OV17R_OVARY | 226061988 | 226062067 | 226062036 | 226062036 | Missense_Mutation | C | A | p.R73I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TMEM63A |
| 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 TMEM63A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TMEM63A |
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RelatedDrugs for TMEM63A |
| 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 TMEM63A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TMEM63A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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