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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 C5orf38 |
 Gene summary |
| Gene information | Gene symbol | C5orf38 | Gene ID | 153571 |
| Gene name | chromosome 5 open reading frame 38 | |
| Synonyms | CEI|IRX2NB | |
| Cytomap | 5p15.33 | |
| Type of gene | protein-coding | |
| Description | protein CEIIRX2 neighborcoordinated expression to IRX2coordinated expression to IRXA2 homeoboxcoordinated expression to IRXA2 protein | |
| Modification date | 20180329 | |
| UniProtAcc | Q86SI9 | |
| Context | PubMed: C5orf38 [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 C5orf38 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 C5orf38 |
| 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 C5orf38 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433793 | 5 | 2752378:2752578:2752735:2752868:2753398:2753469 | 2752735:2752868 | ENSG00000186493.7 | ENST00000505778.1,ENST00000334000.3,ENST00000515640.1 |
| exon_skip_433795 | 5 | 2752378:2752578:2752735:2752868:2755142:2755195 | 2752735:2752868 | ENSG00000186493.7 | ENST00000397835.4 |
| exon_skip_433800 | 5 | 2752378:2752578:2752793:2752868:2753398:2753469 | 2752793:2752868 | ENSG00000186493.7 | ENST00000503940.1,ENST00000505106.1 |
| exon_skip_433814 | 5 | 2752793:2752868:2753398:2753469:2755142:2755195 | 2753398:2753469 | ENSG00000186493.7 | ENST00000334000.3,ENST00000505106.1 |
| exon_skip_433816 | 5 | 2752793:2752868:2753398:2753484:2755142:2755195 | 2753398:2753484 | ENSG00000186493.7 | ENST00000503940.1,ENST00000505778.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C5orf38 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_433793 | 5 | 2752378:2752578:2752735:2752868:2753398:2753469 | 2752735:2752868 | ENSG00000186493.7 | ENST00000334000.3,ENST00000505778.1,ENST00000515640.1 |
| exon_skip_433795 | 5 | 2752378:2752578:2752735:2752868:2755142:2755195 | 2752735:2752868 | ENSG00000186493.7 | ENST00000397835.4 |
| exon_skip_433800 | 5 | 2752378:2752578:2752793:2752868:2753398:2753469 | 2752793:2752868 | ENSG00000186493.7 | ENST00000505106.1,ENST00000503940.1 |
| exon_skip_433814 | 5 | 2752793:2752868:2753398:2753469:2755142:2755195 | 2753398:2753469 | ENSG00000186493.7 | ENST00000334000.3,ENST00000505106.1 |
| exon_skip_433816 | 5 | 2752793:2752868:2753398:2753484:2755142:2755195 | 2753398:2753484 | ENSG00000186493.7 | ENST00000503940.1,ENST00000505778.1 |
| 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 C5orf38 |
| 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 |
| ENST00000334000 | 2752735 | 2752868 | Frame-shift |
| ENST00000334000 | 2753398 | 2753469 | 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 |
| ENST00000334000 | 2752735 | 2752868 | Frame-shift |
| ENST00000334000 | 2753398 | 2753469 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C5orf38 |
| 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 C5orf38 |
| - 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 |
| LUSC | TCGA-43-3394-01 | exon_skip_433800 exon_skip_433793 exon_skip_433795 | 2752736 | 2752868 | 2752747 | 2752747 | Nonsense_Mutation | C | G | p.S71* |
| HNSC | TCGA-CV-7245-01 | exon_skip_433800 exon_skip_433793 exon_skip_433795 | 2752736 | 2752868 | 2752749 | 2752749 | Nonsense_Mutation | A | T | p.K72* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CV-7245-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_433795 | |
| Skipped exon start: 2752736 | |
| Skipped exon end: 2752868 | |
| Mutation start: 2752749 | |
| Mutation end: 2752749 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: A | |
| Mutation seq: T | |
| AAchange: p.K72* | |
exon_skip_433795_HNSC_TCGA-CV-7245-01.png | |
 | Sample: TCGA-43-3394-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_433795 | |
| Skipped exon start: 2752736 | |
| Skipped exon end: 2752868 | |
| Mutation start: 2752747 | |
| Mutation end: 2752747 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: G | |
| AAchange: p.S71* | |
exon_skip_291361_LUSC_TCGA-43-3394-01.png | |
exon_skip_433795_LUSC_TCGA-43-3394-01.png | |
exon_skip_512323_LUSC_TCGA-43-3394-01.png | |
exon_skip_92560_LUSC_TCGA-43-3394-01.png | |
exon_skip_92567_LUSC_TCGA-43-3394-01.png | |
exon_skip_92572_LUSC_TCGA-43-3394-01.png | |
exon_skip_92573_LUSC_TCGA-43-3394-01.png | |
| - 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 |
| MDAMB361_BREAST | 2752794 | 2752868 | 2752806 | 2752806 | Missense_Mutation | C | A | p.P91T |
| MDAMB361_BREAST | 2752736 | 2752868 | 2752806 | 2752806 | Missense_Mutation | C | A | p.P91T |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2752794 | 2752868 | 2752830 | 2752830 | Missense_Mutation | G | A | p.E99K |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2752736 | 2752868 | 2752830 | 2752830 | Missense_Mutation | G | A | p.E99K |
| COLO794_SKIN | 2752794 | 2752868 | 2752849 | 2752849 | Missense_Mutation | C | T | p.P105L |
| COLO794_SKIN | 2752736 | 2752868 | 2752849 | 2752849 | Missense_Mutation | C | T | p.P105L |
| COLO800_SKIN | 2752794 | 2752868 | 2752849 | 2752849 | Missense_Mutation | C | T | p.P105L |
| COLO800_SKIN | 2752736 | 2752868 | 2752849 | 2752849 | Missense_Mutation | C | T | p.P105L |
| SCLC22H_LUNG | 2753399 | 2753469 | 2753439 | 2753439 | Missense_Mutation | G | A | p.R125K |
| SCLC22H_LUNG | 2753399 | 2753484 | 2753439 | 2753439 | Missense_Mutation | G | A | p.R125K |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2753399 | 2753469 | 2753445 | 2753445 | Missense_Mutation | C | T | p.A127V |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2753399 | 2753484 | 2753445 | 2753445 | Missense_Mutation | C | T | p.A127V |
| U87MG_CENTRAL_NERVOUS_SYSTEM | 2752736 | 2752868 | 2752749 | 2752749 | Nonsense_Mutation | A | T | p.K72* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C5orf38 |
| 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 C5orf38 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C5orf38 |
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RelatedDrugs for C5orf38 |
| 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 C5orf38 |
| 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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