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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 CHCHD6 |
 Gene summary |
| Gene information | Gene symbol | CHCHD6 | Gene ID | 84303 |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 6 | |
| Synonyms | CHCM1|Mic25|PPP1R23 | |
| Cytomap | 3q21.3 | |
| Type of gene | protein-coding | |
| Description | MICOS complex subunit MIC25coiled coil helix cristae morphology 1coiled-coil-helix cristae morphology protein 1coiled-coil-helix-coiled-coil-helix domain-containing protein 6, mitochondrialprotein phosphatase 1, regulatory subunit 23 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9BRQ6 | |
| Context | PubMed: CHCHD6 [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 |
| CHCHD6 | GO:0006974 | cellular response to DNA damage stimulus | 22228767 |
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Exon skipping events across known transcript of Ensembl for CHCHD6 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 CHCHD6 |
| 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 CHCHD6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377265 | 3 | 126445920:126446029:126449403:126449473:126451920:126452065 | 126449403:126449473 | ENSG00000159685.6 | ENST00000508789.1,ENST00000514908.1,ENST00000503119.1,ENST00000290913.3 |
| exon_skip_377270 | 3 | 126451920:126452065:126499182:126499273:126571489:126571573 | 126499182:126499273 | ENSG00000159685.6 | ENST00000503119.1 |
| exon_skip_377271 | 3 | 126451920:126452065:126571486:126571573:126633522:126633593 | 126571486:126571573 | ENSG00000159685.6 | ENST00000508789.1 |
| exon_skip_377272 | 3 | 126451920:126452065:126571489:126571573:126633522:126633593 | 126571489:126571573 | ENSG00000159685.6 | ENST00000513253.1,ENST00000514908.1,ENST00000290913.3 |
| exon_skip_377285 | 3 | 126571489:126571573:126633522:126633593:126676258:126676394 | 126633522:126633593 | ENSG00000159685.6 | ENST00000508789.1,ENST00000503119.1,ENST00000290913.3 |
| exon_skip_377294 | 3 | 126653966:126654029:126671867:126672027:126676258:126676394 | 126671867:126672027 | ENSG00000159685.6 | ENST00000504973.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHCHD6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_377265 | 3 | 126445920:126446029:126449403:126449473:126451920:126452065 | 126449403:126449473 | ENSG00000159685.6 | ENST00000290913.3,ENST00000503119.1,ENST00000508789.1,ENST00000514908.1 |
| exon_skip_377270 | 3 | 126451920:126452065:126499182:126499273:126571489:126571573 | 126499182:126499273 | ENSG00000159685.6 | ENST00000503119.1 |
| exon_skip_377271 | 3 | 126451920:126452065:126571486:126571573:126633522:126633593 | 126571486:126571573 | ENSG00000159685.6 | ENST00000508789.1 |
| exon_skip_377272 | 3 | 126451920:126452065:126571489:126571573:126633522:126633593 | 126571489:126571573 | ENSG00000159685.6 | ENST00000290913.3,ENST00000514908.1,ENST00000513253.1 |
| exon_skip_377285 | 3 | 126571489:126571573:126633522:126633593:126676258:126676394 | 126633522:126633593 | ENSG00000159685.6 | ENST00000290913.3,ENST00000503119.1,ENST00000508789.1 |
| exon_skip_377294 | 3 | 126653966:126654029:126671867:126672027:126676258:126676394 | 126671867:126672027 | ENSG00000159685.6 | ENST00000504973.1 |
| 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 CHCHD6 |
| 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 |
| ENST00000290913 | 126449403 | 126449473 | Frame-shift |
| ENST00000290913 | 126633522 | 126633593 | Frame-shift |
| ENST00000290913 | 126571489 | 126571573 | 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 |
| ENST00000290913 | 126449403 | 126449473 | Frame-shift |
| ENST00000290913 | 126633522 | 126633593 | Frame-shift |
| ENST00000290913 | 126571489 | 126571573 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHCHD6 |
| 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 |
| ENST00000290913 | 1023 | 235 | 126571489 | 126571573 | 505 | 588 | 137 | 165 |
| 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 |
| ENST00000290913 | 1023 | 235 | 126571489 | 126571573 | 505 | 588 | 137 | 165 |
| 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 |
| Q9BRQ6 | 137 | 165 | 2 | 235 | Chain | ID=PRO_0000129169;Note=MICOS complex subunit MIC25 |
| Q9BRQ6 | 137 | 165 | 129 | 176 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9BRQ6 | 137 | 165 | 2 | 235 | Chain | ID=PRO_0000129169;Note=MICOS complex subunit MIC25 |
| Q9BRQ6 | 137 | 165 | 129 | 176 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CHCHD6 |
| - 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 |
| HNSC | TCGA-CN-6992-01 | exon_skip_377285 | 126633523 | 126633593 | 126633572 | 126633572 | Nonsense_Mutation | C | G | p.S182* |
| HNSC | TCGA-CN-6992-01 | exon_skip_377285 | 126633523 | 126633593 | 126633572 | 126633572 | Nonsense_Mutation | C | G | p.S183* |
| ESCA | TCGA-LN-A7HX-01 | exon_skip_377285 | 126633523 | 126633593 | 126633522 | 126633522 | Splice_Site | G | T | . |
| ESCA | TCGA-LN-A7HX-01 | exon_skip_377285 | 126633523 | 126633593 | 126633522 | 126633522 | Splice_Site | G | T | e6-1 |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_377285 | 126633523 | 126633593 | 126633522 | 126633522 | Splice_Site | G | T | e6-1 |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHCHD6 |
| 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 CHCHD6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHCHD6 |
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RelatedDrugs for CHCHD6 |
| 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 CHCHD6 |
| 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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