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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 ARRDC4 |
Gene summary |
Gene information | Gene symbol | ARRDC4 | Gene ID | 91947 |
Gene name | arrestin domain containing 4 | |
Synonyms | - | |
Cytomap | 15q26.2 | |
Type of gene | protein-coding | |
Description | arrestin domain-containing protein 4 | |
Modification date | 20180519 | |
UniProtAcc | Q8NCT1 | |
Context | PubMed: ARRDC4 [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 ARRDC4 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 ARRDC4 |
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 ARRDC4 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_125201 | 15 | 98503927:98504398:98508829:98508896:98509124:98509200 | 98508829:98508896 | ENSG00000140450.7 | ENST00000268042.6 |
exon_skip_125204 | 15 | 98509124:98509272:98511243:98511346:98512352:98512609 | 98511243:98511346 | ENSG00000140450.7 | ENST00000538249.1,ENST00000268042.6 |
exon_skip_125205 | 15 | 98512352:98512609:98513112:98513275:98513818:98513973 | 98513112:98513275 | ENSG00000140450.7 | ENST00000538249.1,ENST00000268042.6 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARRDC4 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_125201 | 15 | 98503927:98504398:98508829:98508896:98509124:98509200 | 98508829:98508896 | ENSG00000140450.7 | ENST00000268042.6 |
exon_skip_125204 | 15 | 98509124:98509272:98511243:98511346:98512352:98512609 | 98511243:98511346 | ENSG00000140450.7 | ENST00000538249.1,ENST00000268042.6 |
exon_skip_125205 | 15 | 98512352:98512609:98513112:98513275:98513818:98513973 | 98513112:98513275 | ENSG00000140450.7 | ENST00000538249.1,ENST00000268042.6 |
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 ARRDC4 |
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 |
ENST00000268042 | 98508829 | 98508896 | Frame-shift |
ENST00000268042 | 98511243 | 98511346 | Frame-shift |
ENST00000268042 | 98513112 | 98513275 | 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 |
ENST00000268042 | 98508829 | 98508896 | Frame-shift |
ENST00000268042 | 98511243 | 98511346 | Frame-shift |
ENST00000268042 | 98513112 | 98513275 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ARRDC4 |
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 ARRDC4 |
- 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 |
LUSC | TCGA-85-6561-01 | exon_skip_125204 | 98511244 | 98511346 | 98511308 | 98511308 | Nonsense_Mutation | C | A | p.S196* |
- 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 |
AM38_CENTRAL_NERVOUS_SYSTEM | 98511244 | 98511346 | 98511332 | 98511333 | Frame_Shift_Ins | - | GG | p.KG204fs |
JHUEM7_ENDOMETRIUM | 98508830 | 98508896 | 98508877 | 98508877 | Missense_Mutation | C | T | p.R119C |
SNU81_LARGE_INTESTINE | 98508830 | 98508896 | 98508877 | 98508877 | Missense_Mutation | C | T | p.R119C |
MFHINO_SOFT_TISSUE | 98511244 | 98511346 | 98511296 | 98511296 | Missense_Mutation | C | G | p.S192C |
MM415_SKIN | 98511244 | 98511346 | 98511308 | 98511308 | Missense_Mutation | C | T | p.S196L |
IM95_STOMACH | 98513113 | 98513275 | 98513198 | 98513198 | Missense_Mutation | G | C | p.S323T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARRDC4 |
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 ARRDC4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARRDC4 |
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RelatedDrugs for ARRDC4 |
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 ARRDC4 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |