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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 CWH43 |
 Gene summary |
| Gene information | Gene symbol | CWH43 | Gene ID | 80157 |
| Gene name | cell wall biogenesis 43 C-terminal homolog | |
| Synonyms | CWH43-C|PGAP2IP | |
| Cytomap | 4p11 | |
| Type of gene | protein-coding | |
| Description | PGAP2-interacting proteincell wall biogenesis protein 43 C-terminal homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H720 | |
| Context | PubMed: CWH43 [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 CWH43 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 CWH43 |
| 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 CWH43 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423589 | 4 | 48988329:48988489:48990493:48990685:48993470:48993591 | 48990493:48990685 | ENSG00000109182.7 | ENST00000514053.2 |
| exon_skip_423593 | 4 | 48993470:48993591:48993952:48994107:48996635:48996837 | 48993952:48994107 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4,ENST00000514053.2 |
| exon_skip_423596 | 4 | 48996635:48996837:49000476:49000565:49005751:49006009 | 49000476:49000565 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4 |
| exon_skip_423600 | 4 | 49000476:49000565:49005751:49006009:49009217:49009343 | 49005751:49006009 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4 |
| exon_skip_423602 | 4 | 49009217:49009343:49019265:49019345:49030645:49030751 | 49019265:49019345 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4,ENST00000514053.2 |
| exon_skip_423603 | 4 | 49032841:49032977:49034582:49034732:49040052:49040197 | 49034582:49034732 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4,ENST00000514053.2 |
| exon_skip_423606 | 4 | 49034582:49034732:49040052:49040197:49046802:49046864 | 49040052:49040197 | ENSG00000109182.7 | ENST00000513409.1,ENST00000226432.4,ENST00000514053.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CWH43 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_423589 | 4 | 48988329:48988489:48990493:48990685:48993470:48993591 | 48990493:48990685 | ENSG00000109182.7 | ENST00000514053.2 |
| exon_skip_423593 | 4 | 48993470:48993591:48993952:48994107:48996635:48996837 | 48993952:48994107 | ENSG00000109182.7 | ENST00000226432.4,ENST00000514053.2,ENST00000513409.1 |
| exon_skip_423596 | 4 | 48996635:48996837:49000476:49000565:49005751:49006009 | 49000476:49000565 | ENSG00000109182.7 | ENST00000226432.4,ENST00000513409.1 |
| exon_skip_423600 | 4 | 49000476:49000565:49005751:49006009:49009217:49009343 | 49005751:49006009 | ENSG00000109182.7 | ENST00000226432.4,ENST00000513409.1 |
| exon_skip_423602 | 4 | 49009217:49009343:49019265:49019345:49030645:49030751 | 49019265:49019345 | ENSG00000109182.7 | ENST00000226432.4,ENST00000514053.2,ENST00000513409.1 |
| exon_skip_423603 | 4 | 49032841:49032977:49034582:49034732:49040052:49040197 | 49034582:49034732 | ENSG00000109182.7 | ENST00000226432.4,ENST00000514053.2,ENST00000513409.1 |
| exon_skip_423606 | 4 | 49034582:49034732:49040052:49040197:49046802:49046864 | 49040052:49040197 | ENSG00000109182.7 | ENST00000226432.4,ENST00000514053.2,ENST00000513409.1 |
| 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 CWH43 |
| 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 |
| ENST00000226432 | 48993952 | 48994107 | Frame-shift |
| ENST00000226432 | 49000476 | 49000565 | Frame-shift |
| ENST00000226432 | 49019265 | 49019345 | Frame-shift |
| ENST00000226432 | 49040052 | 49040197 | Frame-shift |
| ENST00000226432 | 49005751 | 49006009 | In-frame |
| ENST00000226432 | 49034582 | 49034732 | 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 |
| ENST00000226432 | 48993952 | 48994107 | Frame-shift |
| ENST00000226432 | 49000476 | 49000565 | Frame-shift |
| ENST00000226432 | 49019265 | 49019345 | Frame-shift |
| ENST00000226432 | 49040052 | 49040197 | Frame-shift |
| ENST00000226432 | 49005751 | 49006009 | In-frame |
| ENST00000226432 | 49034582 | 49034732 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CWH43 |
| 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 |
| ENST00000226432 | 2489 | 699 | 49005751 | 49006009 | 986 | 1243 | 267 | 353 |
| ENST00000226432 | 2489 | 699 | 49034582 | 49034732 | 1692 | 1841 | 503 | 552 |
| 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 |
| ENST00000226432 | 2489 | 699 | 49005751 | 49006009 | 986 | 1243 | 267 | 353 |
| ENST00000226432 | 2489 | 699 | 49034582 | 49034732 | 1692 | 1841 | 503 | 552 |
| 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 |
| Q9H720 | 267 | 353 | 1 | 699 | Chain | ID=PRO_0000320615;Note=PGAP2-interacting protein |
| Q9H720 | 267 | 353 | 273 | 293 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 267 | 353 | 316 | 336 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 267 | 353 | 349 | 369 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 503 | 552 | 1 | 699 | Chain | ID=PRO_0000320615;Note=PGAP2-interacting protein |
| 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 |
| Q9H720 | 267 | 353 | 1 | 699 | Chain | ID=PRO_0000320615;Note=PGAP2-interacting protein |
| Q9H720 | 267 | 353 | 273 | 293 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 267 | 353 | 316 | 336 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 267 | 353 | 349 | 369 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9H720 | 503 | 552 | 1 | 699 | Chain | ID=PRO_0000320615;Note=PGAP2-interacting protein |
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SNVs in the skipped exons for CWH43 |
| - 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_423600 | 49005752 | 49006009 | 49005768 | 49005768 | Frame_Shift_Del | G | - | p.A273fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_423600 | 49005752 | 49006009 | 49005844 | 49005844 | Frame_Shift_Del | C | - | p.P299fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_423603 | 49034583 | 49034732 | 49034646 | 49034646 | Frame_Shift_Del | G | - | p.E524fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_423603 | 49034583 | 49034732 | 49034703 | 49034703 | Frame_Shift_Del | T | - | p.D543fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_423606 | 49040053 | 49040197 | 49040092 | 49040092 | Frame_Shift_Del | A | - | p.S566fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_423600 | 49005752 | 49006009 | 49005912 | 49005913 | Frame_Shift_Ins | - | T | p.L322fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_423589 | 48990494 | 48990685 | 48990562 | 48990562 | Nonsense_Mutation | G | T | p.E38* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_423589 | 48990494 | 48990685 | 48990633 | 48990633 | Nonsense_Mutation | G | A | p.W61* |
| SKCM | TCGA-EE-A3J5-06 | exon_skip_423589 | 48990494 | 48990685 | 48990633 | 48990633 | Nonsense_Mutation | G | A | p.W61X |
| SKCM | TCGA-XV-AAZW-01 | exon_skip_423589 | 48990494 | 48990685 | 48990633 | 48990633 | Nonsense_Mutation | G | A | p.W61* |
| LUSC | TCGA-60-2711-01 | exon_skip_423600 | 49005752 | 49006009 | 49005780 | 49005780 | Nonsense_Mutation | C | A | p.Y277* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_423600 | 49005752 | 49006009 | 49005925 | 49005925 | Nonsense_Mutation | G | T | p.E326* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_423602 | 49019266 | 49019345 | 49019273 | 49019273 | Nonsense_Mutation | G | A | p.W398* |
| SKCM | TCGA-EE-A3AG-06 | exon_skip_423602 | 49019266 | 49019345 | 49019273 | 49019273 | Nonsense_Mutation | G | A | p.W398X |
| ESCA | TCGA-LN-A4A8-01 | exon_skip_423603 | 49034583 | 49034732 | 49034650 | 49034650 | Nonsense_Mutation | G | T | p.E526* |
| ESCA | TCGA-LN-A4A8-01 | exon_skip_423603 | 49034583 | 49034732 | 49034650 | 49034650 | Nonsense_Mutation | G | T | p.E526X |
| PAAD | TCGA-IB-7651-01 | exon_skip_423593 | 48993953 | 48994107 | 48994109 | 48994109 | Splice_Site | T | C | . |
| COAD | TCGA-G4-6302-01 | exon_skip_423603 | 49034583 | 49034732 | 49034734 | 49034734 | Splice_Site | T | C | . |
| - 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 |
| MOGGCCM_CENTRAL_NERVOUS_SYSTEM | 48990494 | 48990685 | 48990498 | 48990498 | Missense_Mutation | T | G | p.C16W |
| KOSC2_UPPER_AERODIGESTIVE_TRACT | 48990494 | 48990685 | 48990503 | 48990503 | Missense_Mutation | C | T | p.S18F |
| NCIH1793_LUNG | 48990494 | 48990685 | 48990520 | 48990520 | Missense_Mutation | G | T | p.D24Y |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48990494 | 48990685 | 48990530 | 48990530 | Missense_Mutation | C | T | p.P27L |
| HEC1_ENDOMETRIUM | 48993953 | 48994107 | 48993957 | 48993957 | Missense_Mutation | C | A | p.L121I |
| SNU601_STOMACH | 48993953 | 48994107 | 48994005 | 48994005 | Missense_Mutation | C | T | p.R137C |
| HCT116_LARGE_INTESTINE | 48993953 | 48994107 | 48994005 | 48994005 | Missense_Mutation | C | T | p.R137C |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48993953 | 48994107 | 48994023 | 48994023 | Missense_Mutation | C | G | p.L143V |
| HEC1A_ENDOMETRIUM | 49000477 | 49000565 | 49000535 | 49000535 | Missense_Mutation | C | T | p.R258C |
| HEC1_ENDOMETRIUM | 49000477 | 49000565 | 49000535 | 49000535 | Missense_Mutation | C | T | p.R258C |
| DU145_PROSTATE | 49000477 | 49000565 | 49000539 | 49000539 | Missense_Mutation | G | T | p.G259V |
| RF48_STOMACH | 49005752 | 49006009 | 49005820 | 49005820 | Missense_Mutation | G | T | p.A291S |
| HCC2998_LARGE_INTESTINE | 49005752 | 49006009 | 49005850 | 49005850 | Missense_Mutation | A | C | p.T301P |
| SNU407_LARGE_INTESTINE | 49005752 | 49006009 | 49005908 | 49005908 | Missense_Mutation | T | C | p.M320T |
| NCIH1703_LUNG | 49034583 | 49034732 | 49034636 | 49034636 | Missense_Mutation | C | G | p.P521R |
| HUH28_BILIARY_TRACT | 49034583 | 49034732 | 49034682 | 49034682 | Missense_Mutation | C | G | p.N536K |
| PL21_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49034583 | 49034732 | 49034698 | 49034698 | Missense_Mutation | G | C | p.V542L |
| HCC366_LUNG | 49034583 | 49034732 | 49034711 | 49034711 | Missense_Mutation | T | A | p.V546E |
| RKO_LARGE_INTESTINE | 49040053 | 49040197 | 49040075 | 49040075 | Missense_Mutation | C | G | p.Q561E |
| F36P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49040053 | 49040197 | 49040078 | 49040078 | Missense_Mutation | G | A | p.A562T |
| SNU620_STOMACH | 49040053 | 49040197 | 49040078 | 49040078 | Missense_Mutation | G | A | p.A562T |
| MFE319_ENDOMETRIUM | 49040053 | 49040197 | 49040081 | 49040081 | Missense_Mutation | A | T | p.I563F |
| JHU028_LUNG | 49040053 | 49040197 | 49040106 | 49040106 | Missense_Mutation | G | T | p.S571I |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49005752 | 49006009 | 49005843 | 49005843 | Nonsense_Mutation | G | A | p.W298* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CWH43 |
| 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 CWH43 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CWH43 |
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RelatedDrugs for CWH43 |
| 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 CWH43 |
| 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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