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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 CMC1 |
 Gene summary |
| Gene information | Gene symbol | CMC1 | Gene ID | 152100 |
| Gene name | C-X9-C motif containing 1 | |
| Synonyms | C3orf68 | |
| Cytomap | 3p24.1 | |
| Type of gene | protein-coding | |
| Description | COX assembly mitochondrial protein homologC-x(9)-C motif containing 1COX assembly mitochondrial protein 1 homologCX9C mitochondrial protein required for full expression of COX 1cmc1pmitochondrial metallochaperone-like protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q7Z7K0 | |
| Context | PubMed: CMC1 [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 CMC1 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 CMC1 |
| 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 CMC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372239 | 3 | 28283108:28283303:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000466830.1 |
| exon_skip_372251 | 3 | 28283108:28283303:28357823:28357914:28360999:28361232 | 28357823:28357914 | ENSG00000187118.8 | ENST00000423894.1 |
| exon_skip_372255 | 3 | 28283114:28283392:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000334841.6 |
| exon_skip_372262 | 3 | 28295221:28295256:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000418849.1 |
| exon_skip_372275 | 3 | 28304781:28304871:28357823:28357914:28360999:28361232 | 28357823:28357914 | ENSG00000187118.8 | ENST00000418849.1,ENST00000334841.6,ENST00000396610.2,ENST00000466830.1 |
| exon_skip_372279 | 3 | 28334226:28334455:28335924:28336017:28357823:28357898 | 28335924:28336017 | ENSG00000187118.8 | ENST00000468330.1 |
| exon_skip_372288 | 3 | 28338603:28338652:28339709:28339841:28357823:28357898 | 28339709:28339841 | ENSG00000187118.8 | ENST00000467644.1 |
| exon_skip_372293 | 3 | 28357843:28357914:28358243:28358350:28360999:28361116 | 28358243:28358350 | ENSG00000187118.8 | ENST00000482499.1 |
| exon_skip_372294 | 3 | 28357843:28357914:28360222:28360370:28360999:28361232 | 28360222:28360370 | ENSG00000187118.8 | ENST00000495428.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CMC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_372239 | 3 | 28283108:28283303:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000466830.1 |
| exon_skip_372251 | 3 | 28283108:28283303:28357823:28357914:28360999:28361232 | 28357823:28357914 | ENSG00000187118.8 | ENST00000423894.1 |
| exon_skip_372255 | 3 | 28283114:28283392:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000334841.6 |
| exon_skip_372262 | 3 | 28295221:28295256:28304781:28304871:28357823:28357898 | 28304781:28304871 | ENSG00000187118.8 | ENST00000418849.1 |
| exon_skip_372275 | 3 | 28304781:28304871:28357823:28357914:28360999:28361232 | 28357823:28357914 | ENSG00000187118.8 | ENST00000466830.1,ENST00000334841.6,ENST00000418849.1,ENST00000396610.2 |
| exon_skip_372279 | 3 | 28334226:28334455:28335924:28336017:28357823:28357898 | 28335924:28336017 | ENSG00000187118.8 | ENST00000468330.1 |
| exon_skip_372288 | 3 | 28338603:28338652:28339709:28339841:28357823:28357898 | 28339709:28339841 | ENSG00000187118.8 | ENST00000467644.1 |
| exon_skip_372293 | 3 | 28357843:28357914:28358243:28358350:28360999:28361116 | 28358243:28358350 | ENSG00000187118.8 | ENST00000482499.1 |
| exon_skip_372294 | 3 | 28357843:28357914:28360222:28360370:28360999:28361232 | 28360222:28360370 | ENSG00000187118.8 | ENST00000495428.1 |
| 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 CMC1 |
| 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 |
| ENST00000466830 | 28357823 | 28357914 | Frame-shift |
| ENST00000466830 | 28304781 | 28304871 | 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 |
| ENST00000466830 | 28357823 | 28357914 | Frame-shift |
| ENST00000466830 | 28304781 | 28304871 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CMC1 |
| 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 |
| ENST00000466830 | 6050 | 106 | 28304781 | 28304871 | 219 | 308 | 6 | 36 |
| 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 |
| ENST00000466830 | 6050 | 106 | 28304781 | 28304871 | 219 | 308 | 6 | 36 |
| 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 |
| Q7Z7K0 | 6 | 36 | 2 | 106 | Chain | ID=PRO_0000317185;Note=COX assembly mitochondrial protein homolog |
| Q7Z7K0 | 6 | 36 | 31 | 63 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000305|PubMed:23676665;Dbxref=PMID:23676665 |
| Q7Z7K0 | 6 | 36 | 28 | 71 | Domain | Note=CHCH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q7Z7K0 | 6 | 36 | 31 | 41 | Motif | Note=Cx9C motif 1;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 |
| Q7Z7K0 | 6 | 36 | 2 | 106 | Chain | ID=PRO_0000317185;Note=COX assembly mitochondrial protein homolog |
| Q7Z7K0 | 6 | 36 | 31 | 63 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000305;evidence=ECO:0000255|PROSITE-ProRule:PRU01150,ECO:0000305|PubMed:23676665;Dbxref=PMID:23676665 |
| Q7Z7K0 | 6 | 36 | 28 | 71 | Domain | Note=CHCH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
| Q7Z7K0 | 6 | 36 | 31 | 41 | Motif | Note=Cx9C motif 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01150 |
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SNVs in the skipped exons for CMC1 |
| - 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_372275 exon_skip_372251 | 28357824 | 28357914 | 28357881 | 28357881 | Frame_Shift_Del | A | - | p.E56fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_372275 exon_skip_372251 | 28357824 | 28357914 | 28357890 | 28357890 | Nonsense_Mutation | C | A | p.C65* |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_372275 exon_skip_372251 | 28357824 | 28357914 | 28357823 | 28357823 | Splice_Site | G | C | . |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_372275 exon_skip_372251 | 28357824 | 28357914 | 28357823 | 28357823 | Splice_Site | G | C | e3-1 |
| - 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 |
| JHUEM2_ENDOMETRIUM | 28304782 | 28304871 | 28304851 | 28304851 | Missense_Mutation | G | C | p.R30T |
| CAMA1_BREAST | 28357824 | 28357914 | 28357874 | 28357874 | Missense_Mutation | C | T | p.R54W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CMC1 |
| 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 CMC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CMC1 |
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RelatedDrugs for CMC1 |
| 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 CMC1 |
| 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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