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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 C12orf40 |
 Gene summary |
| Gene information | Gene symbol | C12orf40 | Gene ID | 283461 |
| Gene name | chromosome 12 open reading frame 40 | |
| Synonyms | HEL-206|HEL-S-94 | |
| Cytomap | 12q12 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C12orf40epididymis luminal protein 206epididymis secretory protein Li 94 | |
| Modification date | 20180519 | |
| UniProtAcc | Q86WS4 | |
| Context | PubMed: C12orf40 [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 C12orf40 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 C12orf40 |
| 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 C12orf40 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81417 | 12 | 40034756:40034796:40037580:40037719:40040130:40040263 | 40037580:40037719 | ENSG00000180116.11 | ENST00000324616.5,ENST00000398716.1,ENST00000405531.3 |
| exon_skip_81419 | 12 | 40078668:40078729:40085850:40085914:40110557:40110640 | 40085850:40085914 | ENSG00000180116.11 | ENST00000324616.5,ENST00000468200.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C12orf40 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_81417 | 12 | 40034756:40034796:40037580:40037719:40040130:40040263 | 40037580:40037719 | ENSG00000180116.11 | ENST00000405531.3,ENST00000398716.1,ENST00000324616.5 |
| exon_skip_81419 | 12 | 40078668:40078729:40085850:40085914:40110557:40110640 | 40085850:40085914 | ENSG00000180116.11 | ENST00000324616.5,ENST00000468200.2 |
| 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 C12orf40 |
| 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 |
| ENST00000324616 | 40037580 | 40037719 | Frame-shift |
| ENST00000324616 | 40085850 | 40085914 | 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 |
| ENST00000324616 | 40037580 | 40037719 | Frame-shift |
| ENST00000324616 | 40085850 | 40085914 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for C12orf40 |
| 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 C12orf40 |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_81417 | 40037581 | 40037719 | 40037644 | 40037644 | Frame_Shift_Del | A | - | p.K43fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_81419 | 40085851 | 40085914 | 40085883 | 40085883 | Frame_Shift_Del | A | - | p.L460fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_81419 | 40085851 | 40085914 | 40085893 | 40085893 | Nonsense_Mutation | C | T | p.R464* |
| LUSC | TCGA-37-4141-01 | exon_skip_81417 | 40037581 | 40037719 | 40037721 | 40037721 | Splice_Site | T | A | p.E68_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 |
| LS411N_LARGE_INTESTINE | 40037581 | 40037719 | 40037677 | 40037678 | Frame_Shift_Ins | - | TA | p.L54fs |
| CAL39_VULVA | 40085851 | 40085914 | 40085879 | 40085880 | In_Frame_Ins | - | TTT | p.459_460SL>SFL |
| NCIH2141_LUNG | 40037581 | 40037719 | 40037653 | 40037653 | Missense_Mutation | G | T | p.A46S |
| NCIH513_PLEURA | 40037581 | 40037719 | 40037693 | 40037693 | Missense_Mutation | A | T | p.Q59L |
| A2058_SKIN | 40037581 | 40037719 | 40037716 | 40037716 | Missense_Mutation | C | T | p.P67S |
| HCC2998_LARGE_INTESTINE | 40085851 | 40085914 | 40085879 | 40085879 | Missense_Mutation | C | A | p.S459Y |
| 8MGBA_CENTRAL_NERVOUS_SYSTEM | 40085851 | 40085914 | 40085894 | 40085894 | Missense_Mutation | G | A | p.R464Q |
| HCC2998_LARGE_INTESTINE | 40085851 | 40085914 | 40085896 | 40085896 | Missense_Mutation | A | G | p.I465V |
| LU99_LUNG | 40085851 | 40085914 | 40085908 | 40085908 | Missense_Mutation | A | G | p.K469E |
| SAS_UPPER_AERODIGESTIVE_TRACT | 40037581 | 40037719 | 40037621 | 40037621 | Nonsense_Mutation | C | A | p.S35* |
| MET2B | 40037581 | 40037719 | 40037581 | 40037581 | Splice_Site | G | A | p.E22K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C12orf40 |
| 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 C12orf40 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C12orf40 |
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RelatedDrugs for C12orf40 |
| 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 C12orf40 |
| 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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