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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for C3orf18 |
Gene summary |
Gene information | Gene symbol | C3orf18 | Gene ID | 51161 |
Gene name | chromosome 3 open reading frame 18 | |
Synonyms | G20 | |
Cytomap | 3p21.31 | |
Type of gene | protein-coding | |
Description | uncharacterized protein C3orf18 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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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Gene structures and expression levels for C3orf18 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000449241.5 | C3orf18-206:protein_coding:C3orf18 | 1.294652e+01 | 2.301825e+01 | 2.312609e-25 | 4.861519e-22 |
CB | DOWN | ENST00000449241.5 | C3orf18-206:protein_coding:C3orf18 | 6.485974e+02 | -1.450027e+00 | 6.351130e-08 | 1.445903e-06 |
CB | UP | ENST00000485902.1 | C3orf18-209:lncRNA:C3orf18 | 8.888207e+00 | 1.130336e+00 | 2.458363e-04 | 1.585478e-03 |
CB | DOWN | ENST00000484982.1 | C3orf18-208:lncRNA:C3orf18 | 8.802120e-01 | -1.225183e+00 | 5.641071e-04 | 3.191211e-03 |
TC | UP | ENST00000485902.1 | C3orf18-209:lncRNA:C3orf18 | 2.758176e+00 | 1.227653e+00 | 4.318897e-03 | 3.000911e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for C3orf18 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_126413 | chr3 | 50560917:50561064:50561722:50561747:50565466:50565861 | 50561722:50561747 |
exon_skip_143794 | chr3 | 50560917:50561064:50561722:50561747:50565526:50565700 | 50561722:50561747 |
exon_skip_165456 | chr3 | 50559599:50559737:50560917:50561064:50561722:50561747 | 50560917:50561064 |
exon_skip_166155 | chr3 | 50565813:50565861:50566006:50566094:50567463:50567621 | 50566006:50566094 |
exon_skip_167344 | chr3 | 50565466:50565861:50566006:50566094:50567463:50567621 | 50566006:50566094 |
exon_skip_208884 | chr3 | 50560917:50561064:50561722:50561747:50567463:50567621 | 50561722:50561747 |
exon_skip_25464 | chr3 | 50561722:50561747:50565466:50565861:50566006:50566094 | 50565466:50565861 |
exon_skip_264950 | chr3 | 50561722:50561747:50565526:50565700:50567463:50567676 | 50565526:50565700 |
exon_skip_296479 | chr3 | 50561722:50561747:50565526:50565700:50567463:50567621 | 50565526:50565700 |
exon_skip_60947 | chr3 | 50561722:50561747:50566006:50566094:50567463:50567621 | 50566006:50566094 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
exon_skip_41389 | Mayo_CB | 7.861538e-01 | 9.134921e-01 | -1.273382e-01 | 1.320117e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for C3orf18 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357203 | 50565466 | 50565861 | 3UTR-3CDS |
ENST00000357203 | 50566006 | 50566094 | 3UTR-3UTR |
ENST00000357203 | 50560917 | 50561064 | Frame-shift |
ENST00000426034 | 50560917 | 50561064 | Frame-shift |
ENST00000449241 | 50560917 | 50561064 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357203 | 50565466 | 50565861 | 3UTR-3CDS |
ENST00000357203 | 50566006 | 50566094 | 3UTR-3UTR |
ENST00000357203 | 50560917 | 50561064 | Frame-shift |
ENST00000426034 | 50560917 | 50561064 | Frame-shift |
ENST00000449241 | 50560917 | 50561064 | Frame-shift |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000357203 | 50565466 | 50565861 | 3UTR-3CDS |
ENST00000357203 | 50566006 | 50566094 | 3UTR-3UTR |
ENST00000357203 | 50560917 | 50561064 | Frame-shift |
ENST00000426034 | 50560917 | 50561064 | Frame-shift |
ENST00000449241 | 50560917 | 50561064 | Frame-shift |
ENST00000357203 | 50561722 | 50561747 | Frame-shift |
ENST00000426034 | 50561722 | 50561747 | Frame-shift |
ENST00000449241 | 50561722 | 50561747 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C3orf18 |
p-ENSG00000088543_img4.png |
Loci of skipped exons in ROSMAP 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 MSBB 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 Mayo 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 ROSMAP. |
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 MSBB. |
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 Mayo. |
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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3'-UTR located exon skipping events that lost miRNA binding sites in C3orf18 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Mayo | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6862-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
Mayo | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6784-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
Mayo | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6836-5p | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
Mayo | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6132 | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
Mayo | ENST00000357203 | 50566006 | 50566094 | hsa-miR-153-5p | chr3:50566040-50566047 | 8mer-1a | chr3:50566033-50566054 | 156.00 | -13.96 |
MSBB | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6862-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
MSBB | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6784-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
MSBB | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6836-5p | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
MSBB | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6132 | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
MSBB | ENST00000357203 | 50566006 | 50566094 | hsa-miR-153-5p | chr3:50566040-50566047 | 8mer-1a | chr3:50566033-50566054 | 156.00 | -13.96 |
ROSMAP | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6862-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
ROSMAP | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6784-3p | chr3:50566069-50566076 | 8mer-1a | chr3:50566066-50566090 | 150.00 | -14.18 |
ROSMAP | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6836-5p | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
ROSMAP | ENST00000357203 | 50566006 | 50566094 | hsa-miR-6132 | chr3:50566049-50566056 | 8mer-1a | chr3:50566043-50566064 | 147.00 | -19.79 |
ROSMAP | ENST00000357203 | 50566006 | 50566094 | hsa-miR-153-5p | chr3:50566040-50566047 | 8mer-1a | chr3:50566033-50566054 | 156.00 | -13.96 |
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SNVs in the skipped exons for C3orf18 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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 |
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AD stage-associated exon skippint events for C3orf18 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C3orf18 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
CB | exon_skip_165456 | rs7637429 | chr3:50654741 | 1.742674e-05 | 4.172172e-03 |
TC | exon_skip_165456 | rs7637429 | chr3:50654741 | 3.813177e-07 | 1.429898e-04 |
HCC | exon_skip_165456 | rs1076904 | chr3:50615038 | 3.488549e-12 | 1.557237e-09 |
HCC | exon_skip_165456 | rs7637429 | chr3:50654741 | 4.486901e-12 | 1.962829e-09 |
DLPFC | exon_skip_165456 | rs7637429 | chr3:50654741 | 1.484881e-09 | 3.974984e-07 |
DLPFC | exon_skip_165456 | rs1076904 | chr3:50615038 | 2.170058e-08 | 4.744674e-06 |
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Correlation with RNA binding proteins (RBPs) for C3orf18 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM6 | exon_skip_41389 | -4.686048e-01 | 4.623005e-09 |
CB | SAMD4A | exon_skip_41389 | -4.926772e-01 | 5.443105e-10 |
CB | PCBP1 | exon_skip_41389 | -4.209346e-01 | 2.021205e-07 |
CB | TRA2A | exon_skip_41389 | -5.086679e-01 | 1.195716e-10 |
CB | RBM4 | exon_skip_41389 | -7.104941e-01 | 5.784372e-23 |
CB | RBM4B | exon_skip_41389 | -4.766748e-01 | 2.298482e-09 |
TC | RBM4 | exon_skip_41389 | -4.529008e-01 | 4.670592e-09 |
TC | ELAVL1 | exon_skip_115972 | 4.002226e-01 | 2.064480e-07 |
TC | PCBP2 | exon_skip_115972 | 4.117339e-01 | 8.445689e-08 |
TC | ELAVL4 | exon_skip_166155 | -4.353057e-01 | 2.088056e-08 |
TC | RBM3 | exon_skip_166155 | -4.009310e-01 | 3.078181e-07 |
TC | NUP42 | exon_skip_166155 | -4.542919e-01 | 4.133908e-09 |
TC | RALYL | exon_skip_166155 | -4.801488e-01 | 3.859729e-10 |
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RelatedDrugs for C3orf18 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for C3orf18 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |