|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for COX4I2 |
 Gene summary |
| Gene information | Gene symbol | COX4I2 | Gene ID | 84701 |
| Gene name | cytochrome c oxidase subunit 4I2 | |
| Synonyms | COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2 | |
| Cytomap | 20q11.21 | |
| Type of gene | protein-coding | |
| Description | cytochrome c oxidase subunit 4 isoform 2, mitochondrialCOX IV-2cytochrome c oxidase subunit IV isoform 2 (lung)cytochrome c oxidase subunit IV-like 2 | |
| Modification date | 20180523 | |
| UniProtAcc | Q96KJ9 | |
| Context | PubMed: COX4I2 [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 |
Top |
Exon skipping events across known transcript of Ensembl for COX4I2 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. |
 |
Top |
Gene isoform structures and expression levels for COX4I2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for COX4I2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349912 | 20 | 30225735:30225765:30226820:30226902:30227735:30227893 | 30226820:30226902 | ENSG00000131055.4 | ENST00000490030.1 |
| exon_skip_349923 | 20 | 30227735:30227900:30231206:30231338:30232570:30232631 | 30231206:30231338 | ENSG00000131055.4 | ENST00000376075.3 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for COX4I2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349912 | 20 | 30225735:30225765:30226820:30226902:30227735:30227893 | 30226820:30226902 | ENSG00000131055.4 | ENST00000490030.1 |
| exon_skip_349923 | 20 | 30227735:30227900:30231206:30231338:30232570:30232631 | 30231206:30231338 | ENSG00000131055.4 | ENST00000376075.3 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for COX4I2 |
| 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 |
| ENST00000376075 | 30231206 | 30231338 | 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 |
| ENST00000376075 | 30231206 | 30231338 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for COX4I2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000376075 | 710 | 171 | 30231206 | 30231338 | 323 | 454 | 82 | 126 |
| 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 |
| ENST00000376075 | 710 | 171 | 30231206 | 30231338 | 323 | 454 | 82 | 126 |
| 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 |
| 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 |
Top |
SNVs in the skipped exons for COX4I2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| SKCM | TCGA-EE-A20C-06 | exon_skip_349912 | 30226821 | 30226902 | 30226841 | 30226841 | Nonsense_Mutation | G | A | p.W7* |
| CESC | TCGA-C5-A1MK-01 | exon_skip_349912 | 30226821 | 30226902 | 30226891 | 30226891 | Nonsense_Mutation | C | G | p.S24* |
| LUSC | TCGA-66-2781-01 | exon_skip_349923 | 30231207 | 30231338 | 30231265 | 30231265 | Nonsense_Mutation | G | A | p.W102* |
| - 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 |
| NCIH2347_LUNG | 30226821 | 30226902 | 30226831 | 30226831 | Missense_Mutation | G | C | p.R4T |
| NCIH1339_LUNG | 30226821 | 30226902 | 30226837 | 30226837 | Missense_Mutation | C | T | p.A6V |
| MCC26_SKIN | 30231207 | 30231338 | 30231248 | 30231248 | Missense_Mutation | C | T | p.R97C |
| NCIH2004RT_SOFT_TISSUE | 30231207 | 30231338 | 30231248 | 30231248 | Missense_Mutation | C | G | p.R97G |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30231207 | 30231338 | 30231252 | 30231252 | Missense_Mutation | G | A | p.R98H |
| SNGM_ENDOMETRIUM | 30231207 | 30231338 | 30231305 | 30231305 | Missense_Mutation | G | A | p.A116T |
| HCT116_LARGE_INTESTINE | 30231207 | 30231338 | 30231305 | 30231305 | Missense_Mutation | G | A | p.A116T |
| LB771HNC_UPPER_AERODIGESTIVE_TRACT | 30231207 | 30231338 | 30231315 | 30231315 | Missense_Mutation | T | C | p.V119A |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30231207 | 30231338 | 30231332 | 30231332 | Missense_Mutation | G | A | p.V125I |
| JHUEM2_ENDOMETRIUM | 30226821 | 30226902 | 30226875 | 30226875 | Nonsense_Mutation | C | T | p.R19* |
| CORL23_LUNG | 30226821 | 30226902 | 30226902 | 30226902 | Splice_Site | A | T | p.T28S |
| JHU029_UPPER_AERODIGESTIVE_TRACT | 30231207 | 30231338 | 30231337 | 30231337 | Splice_Site | C | T | p.Y126Y |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for COX4I2 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COX4I2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for COX4I2 |
Top |
RelatedDrugs for COX4I2 |
| 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 |
Top |
RelatedDiseases for COX4I2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| COX4I2 | C2675184 | Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis | 1 | CTD_human;ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|