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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 PCMTD1 |
 Gene summary |
| Gene information | Gene symbol | PCMTD1 | Gene ID | 115294 |
| Gene name | protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 | |
| Synonyms | - | |
| Cytomap | 8q11.23 | |
| Type of gene | protein-coding | |
| Description | protein-L-isoaspartate O-methyltransferase domain-containing protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96MG8 | |
| Context | PubMed: PCMTD1 [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 PCMTD1 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 PCMTD1 |
| 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 PCMTD1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489639 | 8 | 52746077:52746249:52752006:52752198:52758220:52758305 | 52752006:52752198 | ENSG00000168300.9 | ENST00000519559.1 |
| exon_skip_489640 | 8 | 52746077:52746249:52758220:52758323:52773404:52773444 | 52758220:52758323 | ENSG00000168300.9 | ENST00000360540.5,ENST00000522514.1 |
| exon_skip_489645 | 8 | 52758220:52758323:52773404:52773806:52811489:52811530 | 52773404:52773806 | ENSG00000168300.9 | ENST00000522514.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCMTD1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489639 | 8 | 52746077:52746249:52752006:52752198:52758220:52758305 | 52752006:52752198 | ENSG00000168300.9 | ENST00000519559.1 |
| exon_skip_489640 | 8 | 52746077:52746249:52758220:52758323:52773404:52773444 | 52758220:52758323 | ENSG00000168300.9 | ENST00000360540.5,ENST00000522514.1 |
| exon_skip_489645 | 8 | 52758220:52758323:52773404:52773806:52811489:52811530 | 52773404:52773806 | ENSG00000168300.9 | ENST00000522514.1 |
| 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 PCMTD1 |
| 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 |
| ENST00000522514 | 52773404 | 52773806 | 3UTR-3CDS |
| ENST00000360540 | 52758220 | 52758323 | Frame-shift |
| ENST00000522514 | 52758220 | 52758323 | Frame-shift |
| 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 |
| ENST00000522514 | 52773404 | 52773806 | 3UTR-3CDS |
| ENST00000360540 | 52758220 | 52758323 | Frame-shift |
| ENST00000522514 | 52758220 | 52758323 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PCMTD1 |
| 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 |
| 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 |
| 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 PCMTD1 |
| - 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. |
PCMTD1_LUSC_exon_skip_489645_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 |
| STAD | TCGA-BR-4361-01 | exon_skip_489640 | 52758221 | 52758323 | 52758239 | 52758239 | Frame_Shift_Del | T | - | p.N131fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_489640 | 52758221 | 52758323 | 52758259 | 52758259 | Frame_Shift_Del | T | - | p.K124fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489645 | 52773405 | 52773806 | 52773460 | 52773460 | Frame_Shift_Del | A | - | p.F84fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489645 | 52773405 | 52773806 | 52773460 | 52773460 | Frame_Shift_Del | A | - | p.L85fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_489645 | 52773405 | 52773806 | 52773547 | 52773547 | Frame_Shift_Del | G | - | p.A55fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489645 | 52773405 | 52773806 | 52773556 | 52773556 | Frame_Shift_Del | T | - | p.K52fs |
| LUAD | TCGA-17-Z015-01 | exon_skip_489640 | 52758221 | 52758323 | 52758276 | 52758276 | Nonsense_Mutation | C | A | p.E119* |
| LUSC | TCGA-66-2763-01 | exon_skip_489645 | 52773405 | 52773806 | 52773687 | 52773687 | Nonsense_Mutation | C | A | p.E9* |
| UCEC | TCGA-B5-A11E-01 | exon_skip_489645 | 52773405 | 52773806 | 52773807 | 52773807 | Splice_Site | C | A | e1-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-B5-A11E-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_489645 | |
| Skipped exon start: 52773405 | |
| Skipped exon end: 52773806 | |
| Mutation start: 52773807 | |
| Mutation end: 52773807 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: e1-1 | |
exon_skip_104037_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_106242_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_108777_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_108778_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_121584_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_121649_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_131821_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_133126_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_23327_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_27874_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_312611_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_312613_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_312641_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_313540_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_326446_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_326448_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_330038_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_340150_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_348004_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_348005_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_377858_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_380242_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_433438_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_489645_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_500396_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_62223_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_97620_UCEC_TCGA-B5-A11E-01.png | |
exon_skip_97655_UCEC_TCGA-B5-A11E-01.png | |
 | Sample: TCGA-66-2763-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_489645 | |
| Skipped exon start: 52773405 | |
| Skipped exon end: 52773806 | |
| Mutation start: 52773687 | |
| Mutation end: 52773687 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E9* | |
exon_skip_106790_LUSC_TCGA-66-2763-01.png | |
exon_skip_489645_LUSC_TCGA-66-2763-01.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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52758221 | 52758323 | 52758239 | 52758239 | Frame_Shift_Del | T | - | p.N131fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 52773405 | 52773806 | 52773658 | 52773659 | Frame_Shift_Del | TA | - | p.L18fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 52773405 | 52773806 | 52773661 | 52773662 | Frame_Shift_Ins | - | GG | p.N17fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52758221 | 52758323 | 52758250 | 52758250 | Missense_Mutation | G | T | p.S127R |
| RKO_LARGE_INTESTINE | 52773405 | 52773806 | 52773453 | 52773453 | Missense_Mutation | G | T | p.L87M |
| HEC108_ENDOMETRIUM | 52773405 | 52773806 | 52773546 | 52773546 | Missense_Mutation | A | G | p.W56R |
| OC316_OVARY | 52773405 | 52773806 | 52773587 | 52773587 | Missense_Mutation | T | C | p.Y42C |
| OC314_OVARY | 52773405 | 52773806 | 52773587 | 52773587 | Missense_Mutation | T | C | p.Y42C |
| SNU81_LARGE_INTESTINE | 52773405 | 52773806 | 52773684 | 52773684 | Missense_Mutation | C | A | p.D10Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCMTD1 |
| 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 PCMTD1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCMTD1 |
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RelatedDrugs for PCMTD1 |
| 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 PCMTD1 |
| 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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