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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 C12orf42 |
 Gene summary |
| Gene information | Gene symbol | C12orf42 | Gene ID | 374470 |
| Gene name | chromosome 12 open reading frame 42 | |
| Synonyms | - | |
| Cytomap | 12q23.2-q23.3 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C12orf42 | |
| Modification date | 20180403 | |
| UniProtAcc | Q96LP6 | |
| Context | PubMed: C12orf42 [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 C12orf42 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 C12orf42 |
| 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 C12orf42 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95750 | 12 | 103657103:103657149:103661386:103661486:103661630:103661664 | 103661386:103661486 | ENSG00000179088.10 | ENST00000551303.1 |
| exon_skip_95751 | 12 | 103657103:103657149:103661411:103661486:103661630:103661664 | 103661411:103661486 | ENSG00000179088.10 | ENST00000547347.1,ENST00000547470.1 |
| exon_skip_95754 | 12 | 103663597:103663631:103663926:103664086:103670927:103670988 | 103663926:103664086 | ENSG00000179088.10 | ENST00000552977.1 |
| exon_skip_95755 | 12 | 103663597:103663631:103667569:103667661:103670927:103670988 | 103667569:103667661 | ENSG00000179088.10 | ENST00000547347.1 |
| exon_skip_95757 | 12 | 103670927:103670988:103762664:103762776:103795384:103795453 | 103762664:103762776 | ENSG00000179088.10 | ENST00000552977.1,ENST00000315192.8,ENST00000550650.1,ENST00000547347.1,ENST00000546526.1 |
| exon_skip_95759 | 12 | 103695732:103696337:103699751:103700123:103762664:103762776 | 103699751:103700123 | ENSG00000179088.10 | ENST00000378113.2,ENST00000548048.1,ENST00000548883.1 |
| exon_skip_95763 | 12 | 103699751:103700123:103761789:103761884:103762664:103762776 | 103761789:103761884 | ENSG00000179088.10 | ENST00000551134.1,ENST00000548789.1 |
| exon_skip_95764 | 12 | 103699759:103700123:103762664:103762776:103795384:103795453 | 103762664:103762776 | ENSG00000179088.10 | ENST00000378113.2,ENST00000552578.1,ENST00000548883.1 |
| exon_skip_95765 | 12 | 103762664:103762776:103772485:103772570:103795384:103795453 | 103772485:103772570 | ENSG00000179088.10 | ENST00000548048.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C12orf42 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_95750 | 12 | 103657103:103657149:103661386:103661486:103661630:103661664 | 103661386:103661486 | ENSG00000179088.10 | ENST00000551303.1 |
| exon_skip_95751 | 12 | 103657103:103657149:103661411:103661486:103661630:103661664 | 103661411:103661486 | ENSG00000179088.10 | ENST00000547347.1,ENST00000547470.1 |
| exon_skip_95754 | 12 | 103663597:103663631:103663926:103664086:103670927:103670988 | 103663926:103664086 | ENSG00000179088.10 | ENST00000552977.1 |
| exon_skip_95755 | 12 | 103663597:103663631:103667569:103667661:103670927:103670988 | 103667569:103667661 | ENSG00000179088.10 | ENST00000547347.1 |
| exon_skip_95757 | 12 | 103670927:103670988:103762664:103762776:103795384:103795453 | 103762664:103762776 | ENSG00000179088.10 | ENST00000547347.1,ENST00000550650.1,ENST00000546526.1,ENST00000552977.1,ENST00000315192.8 |
| exon_skip_95759 | 12 | 103695732:103696337:103699751:103700123:103762664:103762776 | 103699751:103700123 | ENSG00000179088.10 | ENST00000548883.1,ENST00000548048.1,ENST00000378113.2 |
| exon_skip_95763 | 12 | 103699751:103700123:103761789:103761884:103762664:103762776 | 103761789:103761884 | ENSG00000179088.10 | ENST00000551134.1,ENST00000548789.1 |
| exon_skip_95764 | 12 | 103699759:103700123:103762664:103762776:103795384:103795453 | 103762664:103762776 | ENSG00000179088.10 | ENST00000548883.1,ENST00000378113.2,ENST00000552578.1 |
| exon_skip_95765 | 12 | 103762664:103762776:103772485:103772570:103795384:103795453 | 103772485:103772570 | ENSG00000179088.10 | ENST00000548048.1 |
| exon_skip_95766 | 12 | 103795384:103795453:103871698:103871842:103872126:103872225 | 103871698:103871842 | ENSG00000179088.10 | ENST00000548789.1 |
| 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 C12orf42 |
| 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 |
| ENST00000378113 | 103762664 | 103762776 | Frame-shift |
| ENST00000548883 | 103762664 | 103762776 | Frame-shift |
| ENST00000378113 | 103699751 | 103700123 | In-frame |
| ENST00000548883 | 103699751 | 103700123 | In-frame |
| 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 |
| ENST00000378113 | 103762664 | 103762776 | Frame-shift |
| ENST00000548883 | 103762664 | 103762776 | Frame-shift |
| ENST00000378113 | 103699751 | 103700123 | In-frame |
| ENST00000548883 | 103699751 | 103700123 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C12orf42 |
| 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 |
| ENST00000378113 | 1479 | 360 | 103699751 | 103700123 | 486 | 857 | 86 | 210 |
| ENST00000548883 | 1353 | 360 | 103699751 | 103700123 | 348 | 719 | 86 | 210 |
| 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 |
| ENST00000378113 | 1479 | 360 | 103699751 | 103700123 | 486 | 857 | 86 | 210 |
| ENST00000548883 | 1353 | 360 | 103699751 | 103700123 | 348 | 719 | 86 | 210 |
| 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 |
| Q96LP6 | 86 | 210 | 1 | 95 | Alternative sequence | ID=VSP_022691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 1 | 95 | Alternative sequence | ID=VSP_022691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 87 | 107 | Alternative sequence | ID=VSP_022692;Note=In isoform 3. VFPERTQNSMACKRLLHTCQY->GSHHGQATQKLQGAMVLHLEE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 87 | 107 | Alternative sequence | ID=VSP_022692;Note=In isoform 3. VFPERTQNSMACKRLLHTCQY->GSHHGQATQKLQGAMVLHLEE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 108 | 360 | Alternative sequence | ID=VSP_022693;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 108 | 360 | Alternative sequence | ID=VSP_022693;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 1 | 360 | Chain | ID=PRO_0000274274;Note=Uncharacterized protein C12orf42 |
| Q96LP6 | 86 | 210 | 1 | 360 | Chain | ID=PRO_0000274274;Note=Uncharacterized protein C12orf42 |
| Q96LP6 | 86 | 210 | 182 | 182 | Natural variant | ID=VAR_030230;Note=P->R;Dbxref=dbSNP:rs7484376 |
| Q96LP6 | 86 | 210 | 182 | 182 | Natural variant | ID=VAR_030230;Note=P->R;Dbxref=dbSNP:rs7484376 |
| 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 |
| Q96LP6 | 86 | 210 | 1 | 95 | Alternative sequence | ID=VSP_022691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 1 | 95 | Alternative sequence | ID=VSP_022691;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 87 | 107 | Alternative sequence | ID=VSP_022692;Note=In isoform 3. VFPERTQNSMACKRLLHTCQY->GSHHGQATQKLQGAMVLHLEE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 87 | 107 | Alternative sequence | ID=VSP_022692;Note=In isoform 3. VFPERTQNSMACKRLLHTCQY->GSHHGQATQKLQGAMVLHLEE;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 108 | 360 | Alternative sequence | ID=VSP_022693;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 108 | 360 | Alternative sequence | ID=VSP_022693;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96LP6 | 86 | 210 | 1 | 360 | Chain | ID=PRO_0000274274;Note=Uncharacterized protein C12orf42 |
| Q96LP6 | 86 | 210 | 1 | 360 | Chain | ID=PRO_0000274274;Note=Uncharacterized protein C12orf42 |
| Q96LP6 | 86 | 210 | 182 | 182 | Natural variant | ID=VAR_030230;Note=P->R;Dbxref=dbSNP:rs7484376 |
| Q96LP6 | 86 | 210 | 182 | 182 | Natural variant | ID=VAR_030230;Note=P->R;Dbxref=dbSNP:rs7484376 |
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SNVs in the skipped exons for C12orf42 |
| - 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-DD-A3A0-01 | exon_skip_95759 | 103699752 | 103700123 | 103699961 | 103699961 | Frame_Shift_Del | G | - | p.P74fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_95764 exon_skip_95757 | 103762665 | 103762776 | 103762678 | 103762678 | Frame_Shift_Del | A | - | p.F15fs |
| HNSC | TCGA-CR-7388-01 | exon_skip_95759 | 103699752 | 103700123 | 103699898 | 103699898 | Nonsense_Mutation | C | T | p.W162* |
| HNSC | TCGA-CR-7388-01 | exon_skip_95759 | 103699752 | 103700123 | 103699898 | 103699898 | Nonsense_Mutation | C | T | p.W95* |
| LUAD | TCGA-17-Z031-01 | exon_skip_95759 | 103699752 | 103700123 | 103699929 | 103699929 | Nonsense_Mutation | C | A | p.E85* |
| - 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 |
| LIM1215_LARGE_INTESTINE | 103699752 | 103700123 | 103699967 | 103699969 | In_Frame_Del | TCA | - | p.D138del |
| SNU61_LARGE_INTESTINE | 103699752 | 103700123 | 103699754 | 103699754 | Missense_Mutation | G | T | p.S210Y |
| HUH6_LIVER | 103699752 | 103700123 | 103699778 | 103699778 | Missense_Mutation | G | T | p.P202H |
| HUH6CLONE5_LIVER | 103699752 | 103700123 | 103699778 | 103699778 | Missense_Mutation | G | T | p.P202H |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103699752 | 103700123 | 103699813 | 103699813 | Missense_Mutation | T | C | p.I190M |
| OPM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103699752 | 103700123 | 103699853 | 103699853 | Missense_Mutation | G | T | p.A177E |
| MERO41_LUNG | 103699752 | 103700123 | 103699893 | 103699893 | Missense_Mutation | T | G | p.S164R |
| HUCCT1_BILIARY_TRACT | 103699752 | 103700123 | 103699917 | 103699917 | Missense_Mutation | C | T | p.G156R |
| SNU81_LARGE_INTESTINE | 103699752 | 103700123 | 103699952 | 103699952 | Missense_Mutation | A | C | p.F144C |
| DERL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 103699752 | 103700123 | 103700093 | 103700093 | Missense_Mutation | G | A | p.A97V |
| HCT15_LARGE_INTESTINE | 103699752 | 103700123 | 103700093 | 103700093 | Missense_Mutation | G | T | p.A97E |
| HT115_LARGE_INTESTINE | 103699752 | 103700123 | 103700108 | 103700108 | Missense_Mutation | G | T | p.T92N |
| SNU886_LIVER | 103762665 | 103762776 | 103762691 | 103762691 | Missense_Mutation | C | T | p.R78H |
| SCH_STOMACH | 103762665 | 103762776 | 103762691 | 103762691 | Missense_Mutation | C | T | p.R78H |
| 451LU_SKIN | 103762665 | 103762776 | 103762692 | 103762692 | Missense_Mutation | G | A | p.R78C |
| MZ2MEL_SKIN | 103762665 | 103762776 | 103762692 | 103762692 | Missense_Mutation | G | A | p.R78C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C12orf42 |
| 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 C12orf42 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C12orf42 |
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RelatedDrugs for C12orf42 |
| 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 C12orf42 |
| 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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