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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 C9orf135 |
 Gene summary |
| Gene information | Gene symbol | C9orf135 | Gene ID | 138255 |
| Gene name | chromosome 9 open reading frame 135 | |
| Synonyms | - | |
| Cytomap | 9q21.12 | |
| Type of gene | protein-coding | |
| Description | protein C9orf135uncharacterized protein C9orf135 | |
| Modification date | 20180523 | |
| UniProtAcc | Q5VTT2 | |
| Context | PubMed: C9orf135 [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 C9orf135 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 C9orf135 |
| 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 C9orf135 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496384 | 9 | 72435875:72435947:72459432:72459541:72471470:72471589 | 72459432:72459541 | ENSG00000204711.4 | ENST00000480564.1,ENST00000527647.1 |
| exon_skip_496386 | 9 | 72472824:72472893:72499968:72500038:72501753:72501811 | 72499968:72500038 | ENSG00000204711.4 | ENST00000466872.2 |
| exon_skip_496387 | 9 | 72472824:72472893:72501753:72501811:72520869:72521110 | 72501753:72501811 | ENSG00000204711.4 | ENST00000529446.1,ENST00000377197.3 |
| exon_skip_496394 | 9 | 72501753:72501811:72517170:72517304:72520869:72521110 | 72517170:72517304 | ENSG00000204711.4 | ENST00000529131.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C9orf135 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_496384 | 9 | 72435875:72435947:72459432:72459541:72471470:72471589 | 72459432:72459541 | ENSG00000204711.4 | ENST00000527647.1,ENST00000480564.1 |
| exon_skip_496386 | 9 | 72472824:72472893:72499968:72500038:72501753:72501811 | 72499968:72500038 | ENSG00000204711.4 | ENST00000466872.2 |
| exon_skip_496387 | 9 | 72472824:72472893:72501753:72501811:72520869:72521110 | 72501753:72501811 | ENSG00000204711.4 | ENST00000377197.3,ENST00000529446.1 |
| exon_skip_496394 | 9 | 72501753:72501811:72517170:72517304:72520869:72521110 | 72517170:72517304 | ENSG00000204711.4 | ENST00000529131.1 |
| 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 C9orf135 |
| 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 |
| ENST00000377197 | 72501753 | 72501811 | 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 |
| ENST00000377197 | 72501753 | 72501811 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C9orf135 |
| 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 C9orf135 |
| - 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 |
| COAD | TCGA-CM-4743-01 | exon_skip_496384 | 72459433 | 72459541 | 72459490 | 72459491 | Frame_Shift_Ins | - | A | p.V70fs |
| LIHC | TCGA-ED-A7XP-01 | exon_skip_496384 | 72459433 | 72459541 | 72459518 | 72459518 | Nonsense_Mutation | C | T | p.R80* |
| LIHC | TCGA-ED-A7XP-01 | exon_skip_496384 | 72459433 | 72459541 | 72459518 | 72459518 | Nonsense_Mutation | C | T | p.R80X |
| STAD | TCGA-CG-5721-01 | exon_skip_496387 | 72501754 | 72501811 | 72501762 | 72501762 | Nonsense_Mutation | T | A | p.L153* |
| STAD | TCGA-CG-5721-01 | exon_skip_496387 | 72501754 | 72501811 | 72501762 | 72501762 | Nonsense_Mutation | T | A | p.L153X |
| HNSC | TCGA-CN-5360-01 | exon_skip_496384 | 72459433 | 72459541 | 72459432 | 72459432 | Splice_Site | G | T | p.W51_splice |
| - 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 |
| IPC298_SKIN | 72459433 | 72459541 | 72459455 | 72459455 | Missense_Mutation | C | T | p.P59S |
| A549_LUNG | 72459433 | 72459541 | 72459462 | 72459462 | Missense_Mutation | G | A | p.G61D |
| NCIH838_LUNG | 72459433 | 72459541 | 72459510 | 72459510 | Missense_Mutation | C | G | p.T77R |
| DU145_PROSTATE | 72459433 | 72459541 | 72459513 | 72459513 | Missense_Mutation | A | T | p.Y78F |
| HCC1500_BREAST | 72459433 | 72459541 | 72459530 | 72459530 | Missense_Mutation | G | T | p.D84Y |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72501754 | 72501811 | 72501788 | 72501788 | Missense_Mutation | C | T | p.P162S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C9orf135 |
| 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 C9orf135 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C9orf135 |
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RelatedDrugs for C9orf135 |
| 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 C9orf135 |
| 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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