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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for CHCHD7 |
Gene summary |
Gene information | Gene symbol | CHCHD7 | Gene ID | 79145 |
Gene name | coiled-coil-helix-coiled-coil-helix domain containing 7 | |
Synonyms | COX23 | |
Cytomap | 8q12.1 | |
Type of gene | protein-coding | |
Description | coiled-coil-helix-coiled-coil-helix domain-containing protein 7COX23 cytochrome c oxidase assembly homolog | |
Modification date | 20200313 | |
UniProtAcc | ||
Context |
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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Gene structures and expression levels for CHCHD7 |
Skipped exons in the ROSMAP, MSBB, and Mayo 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for CHCHD7 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_122125 | chr8 | 56211810:56211837:56212762:56212889:56214598:56214667 | 56212762:56212889 |
exon_skip_133731 | chr8 | 56216433:56216531:56216680:56216754:56217331:56217412 | 56216680:56216754 |
exon_skip_146769 | chr8 | 56211810:56211837:56212762:56212909:56214598:56214667 | 56212762:56212909 |
exon_skip_208728 | chr8 | 56216433:56216531:56216680:56216754:56217331:56217374 | 56216680:56216754 |
exon_skip_21225 | chr8 | 56211810:56211837:56214598:56214667:56216433:56216506 | 56214598:56214667 |
exon_skip_227345 | chr8 | 56216433:56216506:56216680:56216754:56217331:56217412 | 56216680:56216754 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for CHCHD7 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000355315 | 56214598 | 56214667 | 5CDS-5UTR |
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Infer the effects of exon skipping event on protein functional features for CHCHD7 |
p-ENSG00000170791_img4.png |
Loci of skipped exons in ROSMAP 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 |
Loci of skipped exons in MSBB 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 |
Loci of skipped exons in Mayo 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 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
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 MSBB. |
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 Mayo. |
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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in CHCHD7 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for CHCHD7 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- 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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AD stage-associated exon skippint events for CHCHD7 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CHCHD7 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for CHCHD7 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | SRSF2 | exon_skip_122125 | 4.584497e-01 | 1.225765e-09 |
CB | RBM6 | exon_skip_122125 | -5.376928e-01 | 2.707726e-13 |
CB | RBM3 | exon_skip_122125 | 6.653115e-01 | 1.118392e-21 |
CB | TRA2A | exon_skip_122125 | -4.329082e-01 | 1.204199e-08 |
CB | NUP42 | exon_skip_122125 | 6.262494e-01 | 1.067298e-18 |
CB | SRSF2 | exon_skip_146769 | 4.750206e-01 | 2.508906e-10 |
CB | RBM6 | exon_skip_146769 | -5.098916e-01 | 6.660973e-12 |
CB | RBM3 | exon_skip_146769 | 6.948821e-01 | 2.996920e-24 |
CB | UNK | exon_skip_146769 | 5.352011e-01 | 3.651805e-13 |
CB | FUBP3 | exon_skip_146769 | 5.003426e-01 | 1.874687e-11 |
CB | NUP42 | exon_skip_146769 | 6.851801e-01 | 2.259819e-23 |
CB | SRSF9 | exon_skip_146769 | 4.254670e-01 | 2.263105e-08 |
DLPFC | RBM3 | exon_skip_146769 | 4.557183e-01 | 9.780435e-19 |
DLPFC | RBM3 | exon_skip_122125 | 4.286045e-01 | 1.554019e-16 |
FL | RBM3 | exon_skip_146769 | 4.003933e-01 | 3.202982e-07 |
HCC | RBM3 | exon_skip_146769 | 5.473078e-01 | 1.175511e-22 |
IFG | RBM3 | exon_skip_122125 | 5.732231e-01 | 1.775153e-03 |
IFG | RBM3 | exon_skip_146769 | 5.643541e-01 | 2.166722e-03 |
PCC | RBM3 | exon_skip_122125 | 4.699026e-01 | 4.254222e-13 |
PCC | RBM3 | exon_skip_146769 | 4.752882e-01 | 2.107448e-13 |
TC | SRSF2 | exon_skip_122125 | 4.307016e-01 | 1.308514e-08 |
TC | RBM3 | exon_skip_122125 | 6.058015e-01 | 2.119195e-17 |
TC | RBM6 | exon_skip_146769 | -4.487287e-01 | 2.664463e-09 |
TC | RBM3 | exon_skip_146769 | 5.799034e-01 | 9.327457e-16 |
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RelatedDrugs for CHCHD7 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CHCHD7 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |