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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 C6orf62 |
 Gene summary |
| Gene information | Gene symbol | C6orf62 | Gene ID | 81688 |
| Gene name | chromosome 6 open reading frame 62 | |
| Synonyms | Nbla00237|XTP12|dJ30M3.2 | |
| Cytomap | 6p22.3 | |
| Type of gene | protein-coding | |
| Description | uncharacterized protein C6orf62HBV X-transactivated gene 12 proteinHBV X-transactivated protein 12HBV XAg-transactivated protein 12 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9GZU0 | |
| Context | PubMed: C6orf62 [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 C6orf62 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 C6orf62 |
| 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 C6orf62 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456645 | 6 | 24706323:24706490:24709004:24709139:24714545:24714668 | 24709004:24709139 | ENSG00000112308.8 | ENST00000378119.4,ENST00000540769.1,ENST00000378102.3 |
| exon_skip_456656 | 6 | 24709004:24709139:24714545:24714668:24716375:24716549 | 24714545:24714668 | ENSG00000112308.8 | ENST00000378119.4,ENST00000540769.1,ENST00000378102.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C6orf62 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_456645 | 6 | 24706323:24706490:24709004:24709139:24714545:24714668 | 24709004:24709139 | ENSG00000112308.8 | ENST00000378119.4,ENST00000540769.1,ENST00000378102.3 |
| exon_skip_456656 | 6 | 24709004:24709139:24714545:24714668:24716375:24716549 | 24714545:24714668 | ENSG00000112308.8 | ENST00000378119.4,ENST00000540769.1,ENST00000378102.3 |
| 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 C6orf62 |
| 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 |
| ENST00000378119 | 24709004 | 24709139 | In-frame |
| ENST00000378119 | 24714545 | 24714668 | 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 |
| ENST00000378119 | 24709004 | 24709139 | In-frame |
| ENST00000378119 | 24714545 | 24714668 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C6orf62 |
| 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 |
| ENST00000378119 | 4151 | 229 | 24714545 | 24714668 | 2475 | 2597 | 102 | 143 |
| ENST00000378119 | 4151 | 229 | 24709004 | 24709139 | 2598 | 2732 | 143 | 188 |
| 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 |
| ENST00000378119 | 4151 | 229 | 24714545 | 24714668 | 2475 | 2597 | 102 | 143 |
| ENST00000378119 | 4151 | 229 | 24709004 | 24709139 | 2598 | 2732 | 143 | 188 |
| 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 |
| Q9GZU0 | 102 | 143 | 1 | 229 | Chain | ID=PRO_0000089514;Note=Uncharacterized protein C6orf62 |
| Q9GZU0 | 102 | 143 | 116 | 116 | Natural variant | ID=VAR_050803;Note=W->C;Dbxref=dbSNP:rs34238213 |
| Q9GZU0 | 102 | 143 | 140 | 140 | Natural variant | ID=VAR_050804;Note=R->S;Dbxref=dbSNP:rs35050510 |
| Q9GZU0 | 143 | 188 | 1 | 229 | Chain | ID=PRO_0000089514;Note=Uncharacterized protein C6orf62 |
| 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 |
| Q9GZU0 | 102 | 143 | 1 | 229 | Chain | ID=PRO_0000089514;Note=Uncharacterized protein C6orf62 |
| Q9GZU0 | 102 | 143 | 116 | 116 | Natural variant | ID=VAR_050803;Note=W->C;Dbxref=dbSNP:rs34238213 |
| Q9GZU0 | 102 | 143 | 140 | 140 | Natural variant | ID=VAR_050804;Note=R->S;Dbxref=dbSNP:rs35050510 |
| Q9GZU0 | 143 | 188 | 1 | 229 | Chain | ID=PRO_0000089514;Note=Uncharacterized protein C6orf62 |
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SNVs in the skipped exons for C6orf62 |
| - 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 |
| BRCA | TCGA-E9-A1R3-01 | exon_skip_456645 | 24709005 | 24709139 | 24709014 | 24709017 | Frame_Shift_Del | CTGT | - | p.R184fs |
| STAD | TCGA-BR-8680-01 | exon_skip_456656 | 24714546 | 24714668 | 24714604 | 24714605 | Frame_Shift_Ins | - | T | p.I124fs |
| STAD | TCGA-BR-8680-01 | exon_skip_456656 | 24714546 | 24714668 | 24714605 | 24714606 | Frame_Shift_Ins | - | T | p.I124fs |
| UCEC | TCGA-D1-A17H-01 | exon_skip_456656 | 24714546 | 24714668 | 24714545 | 24714545 | Splice_Site | C | T | p.Q143_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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 24709005 | 24709139 | 24709017 | 24709017 | Missense_Mutation | T | A | p.R184S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C6orf62 |
| 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 C6orf62 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C6orf62 |
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RelatedDrugs for C6orf62 |
| 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 C6orf62 |
| 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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