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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for WASH4P |
Gene summary |
Gene information | Gene symbol | WASH4P | Gene ID | 374677 |
Gene name | WAS protein family homolog 4 pseudogene | |
Synonyms | CXYorf1P|FAM39CP | |
Cytomap | 16p13.3 | |
Type of gene | pseudo | |
Description | Putative WAS protein family homolog 4family with sequence similarity 39, member C pseudogenepseudogene of CXYorf1 | |
Modification date | 20180329 | |
UniProtAcc | A8MWX3 | |
Context | PubMed: WASH4P [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 WASH4P 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 WASH4P |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for WASH4P |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_139938 | 16 | 64084:64511:64651:64720:65480:65633 | 64651:64720 | ENSG00000234769.4 | ENST00000462860.1,ENST00000495251.1,ENST00000564273.1,ENST00000326592.9 |
exon_skip_139940 | 16 | 64651:64720:65480:65633:66289:66383 | 65480:65633 | ENSG00000234769.4 | ENST00000462860.1,ENST00000495251.1,ENST00000564273.1,ENST00000468574.1,ENST00000326592.9,ENST00000477365.2 |
exon_skip_139944 | 16 | 66540:66738:66915:67051:67290:67427 | 66915:67051 | ENSG00000234769.4 | ENST00000462860.1,ENST00000538848.2,ENST00000483390.2,ENST00000326592.9 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for WASH4P |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_139938 | 16 | 64084:64511:64651:64720:65480:65633 | 64651:64720 | ENSG00000234769.4 | ENST00000326592.9,ENST00000564273.1,ENST00000495251.1,ENST00000462860.1 |
exon_skip_139944 | 16 | 66540:66738:66915:67051:67290:67427 | 66915:67051 | ENSG00000234769.4 | ENST00000326592.9,ENST00000462860.1,ENST00000483390.2,ENST00000538848.2 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for WASH4P |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for WASH4P |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 WASH4P |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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-A39Y-01 | exon_skip_139944 | 66916 | 67051 | 66952 | 66952 | Frame_Shift_Del | G | - | p.P228fs |
LIHC | TCGA-G3-A3CJ-01 | exon_skip_139944 | 66916 | 67051 | 66952 | 66952 | Frame_Shift_Del | G | - | p.P228fs |
LIHC | TCGA-DD-A3A0-01 | exon_skip_139944 | 66916 | 67051 | 67023 | 67023 | Frame_Shift_Del | G | - | p.L205fs |
HNSC | TCGA-CV-7437-01 | exon_skip_139944 | 66916 | 67051 | 67048 | 67048 | Nonsense_Mutation | G | C | p.Y196* |
PAAD | TCGA-M8-A5N4-01 | exon_skip_139944 | 66916 | 67051 | 67048 | 67048 | Nonsense_Mutation | G | C | p.Y196* |
- 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 |
BCPAP_THYROID | 66916 | 67051 | 67028 | 67028 | Frame_Shift_Del | T | - | p.D203fs |
OVMANA_OVARY | 64652 | 64720 | 64685 | 64685 | Missense_Mutation | C | A | p.D424Y |
FADU_UPPER_AERODIGESTIVE_TRACT | 65481 | 65633 | 65514 | 65514 | Missense_Mutation | G | C | p.L401V |
A704_KIDNEY | 66916 | 67051 | 66926 | 66926 | Missense_Mutation | A | C | p.L237R |
NY_BONE | 66916 | 67051 | 66949 | 66949 | Missense_Mutation | C | A | p.L229F |
KYSE510_OESOPHAGUS | 66916 | 67051 | 66995 | 66995 | Missense_Mutation | A | C | p.V214G |
KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66916 | 67051 | 67002 | 67002 | Missense_Mutation | T | C | p.T212A |
HCC95_LUNG | 66916 | 67051 | 67020 | 67020 | Missense_Mutation | C | A | p.A206S |
SNU719_STOMACH | 66916 | 67051 | 66930 | 66930 | Nonsense_Mutation | G | A | p.Q236* |
HO1N1_UPPER_AERODIGESTIVE_TRACT | 66916 | 67051 | 66930 | 66930 | Nonsense_Mutation | G | A | p.Q236* |
PSN1_PANCREAS | 66916 | 67051 | 66930 | 66930 | Nonsense_Mutation | G | A | p.Q236* |
TE10_OESOPHAGUS | 66916 | 67051 | 66930 | 66930 | Nonsense_Mutation | G | A | p.Q236* |
NB12_AUTONOMIC_GANGLIA | 66916 | 67051 | 66975 | 66975 | Nonsense_Mutation | C | A | p.E221* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for WASH4P |
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 WASH4P |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for WASH4P |
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RelatedDrugs for WASH4P |
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 WASH4P |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |