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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 CHCHD5 |
 Gene summary |
| Gene information | Gene symbol | CHCHD5 | Gene ID | 84269 |
| Gene name | coiled-coil-helix-coiled-coil-helix domain containing 5 | |
| Synonyms | C2orf9|MIC14|MIX14 | |
| Cytomap | 2q14.1 | |
| Type of gene | protein-coding | |
| Description | coiled-coil-helix-coiled-coil-helix domain-containing protein 5mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog | |
| Modification date | 20180522 | |
| UniProtAcc | Q9BSY4 | |
| Context | PubMed: CHCHD5 [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 CHCHD5 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 CHCHD5 |
| 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 CHCHD5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328795 | 2 | 113342171:113342226:113343550:113343691:113343776:113343942 | 113343550:113343691 | ENSG00000125611.11 | ENST00000324913.5,ENST00000409719.1 |
| exon_skip_328804 | 2 | 113342171:113342226:113343550:113343942:113346442:113346617 | 113343550:113343942 | ENSG00000125611.11 | ENST00000454841.1 |
| exon_skip_328813 | 2 | 113343550:113343691:113343776:113343942:113346442:113346617 | 113343776:113343942 | ENSG00000125611.11 | ENST00000324913.5,ENST00000469030.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CHCHD5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_328795 | 2 | 113342171:113342226:113343550:113343691:113343776:113343942 | 113343550:113343691 | ENSG00000125611.11 | ENST00000324913.5,ENST00000409719.1 |
| exon_skip_328804 | 2 | 113342171:113342226:113343550:113343942:113346442:113346617 | 113343550:113343942 | ENSG00000125611.11 | ENST00000454841.1 |
| exon_skip_328813 | 2 | 113343550:113343691:113343776:113343942:113346442:113346617 | 113343776:113343942 | ENSG00000125611.11 | ENST00000324913.5,ENST00000469030.1 |
| 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 CHCHD5 |
| 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 |
| ENST00000324913 | 113343776 | 113343942 | Frame-shift |
| ENST00000324913 | 113343550 | 113343691 | 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 |
| ENST00000324913 | 113343776 | 113343942 | Frame-shift |
| ENST00000324913 | 113343550 | 113343691 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CHCHD5 |
| 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 |
| ENST00000324913 | 708 | 110 | 113343550 | 113343691 | 210 | 350 | 1 | 47 |
| 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 |
| ENST00000324913 | 708 | 110 | 113343550 | 113343691 | 210 | 350 | 1 | 47 |
| 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 |
| Q9BSY4 | 1 | 47 | 1 | 110 | Chain | ID=PRO_0000129167;Note=Coiled-coil-helix-coiled-coil-helix domain-containing protein 5 |
| Q9BSY4 | 1 | 47 | 12 | 44 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000269|PubMed:22842048;Dbxref=PMID:22842048 |
| Q9BSY4 | 1 | 47 | 22 | 34 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000269|PubMed:22842048;Dbxref=PMID:22842048 |
| Q9BSY4 | 1 | 47 | 9 | 52 | Domain | Note=CHCH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q9BSY4 | 1 | 47 | 13 | 25 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 29 | 32 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 36 | 46 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 1 | 1 | Modified residue | Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 |
| Q9BSY4 | 1 | 47 | 12 | 22 | Motif | Note=Cx9C motif 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q9BSY4 | 1 | 47 | 34 | 44 | Motif | Note=Cx9C motif 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| 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 |
| Q9BSY4 | 1 | 47 | 1 | 110 | Chain | ID=PRO_0000129167;Note=Coiled-coil-helix-coiled-coil-helix domain-containing protein 5 |
| Q9BSY4 | 1 | 47 | 12 | 44 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000269|PubMed:22842048;Dbxref=PMID:22842048 |
| Q9BSY4 | 1 | 47 | 22 | 34 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000269|PubMed:22842048;Dbxref=PMID:22842048 |
| Q9BSY4 | 1 | 47 | 9 | 52 | Domain | Note=CHCH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q9BSY4 | 1 | 47 | 13 | 25 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 29 | 32 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 36 | 46 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2LQL |
| Q9BSY4 | 1 | 47 | 1 | 1 | Modified residue | Note=N-acetylmethionine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:22814378;Dbxref=PMID:22814378 |
| Q9BSY4 | 1 | 47 | 12 | 22 | Motif | Note=Cx9C motif 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q9BSY4 | 1 | 47 | 34 | 44 | Motif | Note=Cx9C motif 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
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SNVs in the skipped exons for CHCHD5 |
| - 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 |
| - 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 |
| SNU175_LARGE_INTESTINE | 113343551 | 113343942 | 113343558 | 113343558 | Missense_Mutation | G | A | p.A4T |
| SNU175_LARGE_INTESTINE | 113343551 | 113343691 | 113343558 | 113343558 | Missense_Mutation | G | A | p.A4T |
| 5637_URINARY_TRACT | 113343551 | 113343942 | 113343676 | 113343676 | Missense_Mutation | A | G | p.Q43R |
| 5637_URINARY_TRACT | 113343551 | 113343691 | 113343676 | 113343676 | Missense_Mutation | A | G | p.Q43R |
| MM370_SKIN | 113343777 | 113343942 | 113343796 | 113343796 | Missense_Mutation | C | T | p.R55C |
| MM370_SKIN | 113343551 | 113343942 | 113343796 | 113343796 | Missense_Mutation | C | T | p.R55C |
| HUCCT1_BILIARY_TRACT | 113343777 | 113343942 | 113343821 | 113343821 | Missense_Mutation | A | C | p.E63A |
| HUCCT1_BILIARY_TRACT | 113343551 | 113343942 | 113343821 | 113343821 | Missense_Mutation | A | C | p.E63A |
| NCIH2172_LUNG | 113343777 | 113343942 | 113343842 | 113343842 | Missense_Mutation | G | C | p.R70P |
| NCIH2172_LUNG | 113343551 | 113343942 | 113343842 | 113343842 | Missense_Mutation | G | C | p.R70P |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113343777 | 113343942 | 113343917 | 113343917 | Missense_Mutation | C | T | p.P95L |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 113343551 | 113343942 | 113343917 | 113343917 | Missense_Mutation | C | T | p.P95L |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHCHD5 |
| 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 CHCHD5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CHCHD5 |
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RelatedDrugs for CHCHD5 |
| 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 CHCHD5 |
| 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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