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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 CYP4Z1 |
Gene summary |
Gene information | Gene symbol | CYP4Z1 | Gene ID | 199974 |
Gene name | cytochrome P450 family 4 subfamily Z member 1 | |
Synonyms | CYP4A20 | |
Cytomap | 1p33 | |
Type of gene | protein-coding | |
Description | cytochrome P450 4Z1CYPIVZ1cytochrome P450, family 4, subfamily Z, polypeptide 1 | |
Modification date | 20180331 | |
UniProtAcc | Q86W10 | |
Context | PubMed: CYP4Z1 [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 CYP4Z1 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 CYP4Z1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CYP4Z1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_6283 | 1 | 47534293:47534435:47546294:47546339:47548005:47548133 | 47546294:47546339 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6286 | 1 | 47546294:47546339:47548005:47548133:47550291:47550416 | 47548005:47548133 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6287 | 1 | 47548005:47548133:47550291:47550416:47550495:47550650 | 47550291:47550416 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6289 | 1 | 47550495:47550650:47560237:47560341:47564765:47564956 | 47560237:47560341 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6298 | 1 | 47560237:47560341:47564765:47564956:47571799:47571866 | 47564765:47564956 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6316 | 1 | 47571799:47571933:47581200:47581265:47582321:47582404 | 47581200:47581265 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6326 | 1 | 47581200:47581265:47582321:47582404:47583437:47583736 | 47582321:47582404 | ENSG00000186160.4 | ENST00000471598.1,ENST00000334194.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP4Z1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_6283 | 1 | 47534293:47534435:47546294:47546339:47548005:47548133 | 47546294:47546339 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6287 | 1 | 47548005:47548133:47550291:47550416:47550495:47550650 | 47550291:47550416 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6298 | 1 | 47560237:47560341:47564765:47564956:47571799:47571866 | 47564765:47564956 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6316 | 1 | 47571799:47571933:47581200:47581265:47582321:47582404 | 47581200:47581265 | ENSG00000186160.4 | ENST00000334194.3 |
exon_skip_6326 | 1 | 47581200:47581265:47582321:47582404:47583437:47583736 | 47582321:47582404 | ENSG00000186160.4 | ENST00000334194.3,ENST00000471598.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CYP4Z1 |
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 |
ENST00000334194 | 47548005 | 47548133 | Frame-shift |
ENST00000334194 | 47550291 | 47550416 | Frame-shift |
ENST00000334194 | 47560237 | 47560341 | Frame-shift |
ENST00000334194 | 47564765 | 47564956 | Frame-shift |
ENST00000334194 | 47581200 | 47581265 | Frame-shift |
ENST00000334194 | 47582321 | 47582404 | Frame-shift |
ENST00000334194 | 47546294 | 47546339 | 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 |
ENST00000334194 | 47550291 | 47550416 | Frame-shift |
ENST00000334194 | 47564765 | 47564956 | Frame-shift |
ENST00000334194 | 47581200 | 47581265 | Frame-shift |
ENST00000334194 | 47582321 | 47582404 | Frame-shift |
ENST00000334194 | 47546294 | 47546339 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYP4Z1 |
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 |
ENST00000334194 | 1923 | 505 | 47546294 | 47546339 | 323 | 367 | 106 | 121 |
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 |
ENST00000334194 | 1923 | 505 | 47546294 | 47546339 | 323 | 367 | 106 | 121 |
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 |
Q86W10 | 106 | 121 | 1 | 505 | Chain | ID=PRO_0000051864;Note=Cytochrome P450 4Z1 |
Q86W10 | 106 | 121 | 31 | 505 | Topological domain | Note=Lumenal;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 |
Q86W10 | 106 | 121 | 1 | 505 | Chain | ID=PRO_0000051864;Note=Cytochrome P450 4Z1 |
Q86W10 | 106 | 121 | 31 | 505 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CYP4Z1 |
- 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 |
READ | TCGA-F5-6571-01 | exon_skip_6326 | 47582322 | 47582404 | 47582359 | 47582359 | Frame_Shift_Del | A | - | p.E435fs |
LGG | TCGA-DU-6392-01 | exon_skip_6286 | 47548006 | 47548133 | 47548008 | 47548008 | Nonsense_Mutation | C | T | p.R123* |
SKCM | TCGA-EE-A2GP-06 | exon_skip_6286 | 47548006 | 47548133 | 47548008 | 47548008 | Nonsense_Mutation | C | T | p.R123* |
BLCA | TCGA-FD-A3SP-01 | exon_skip_6286 | 47548006 | 47548133 | 47548040 | 47548040 | Nonsense_Mutation | G | A | p.W133* |
BRCA | TCGA-AR-A0TX-01 | exon_skip_6316 | 47581201 | 47581265 | 47581263 | 47581263 | Nonsense_Mutation | C | T | p.Q422* |
LUAD | TCGA-67-6215-01 | exon_skip_6286 | 47548006 | 47548133 | 47548004 | 47548004 | Splice_Site | A | C | p.G122_splice |
UCEC | TCGA-AP-A0LM-01 | exon_skip_6287 | 47550292 | 47550416 | 47550418 | 47550418 | Splice_Site | T | C | e5+2 |
LUAD | TCGA-05-4398-01 | exon_skip_6326 | 47582322 | 47582404 | 47582406 | 47582406 | Splice_Site | T | A | p.R450_splice |
- 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 |
BECKER_CENTRAL_NERVOUS_SYSTEM | 47548006 | 47548133 | 47548038 | 47548038 | Missense_Mutation | T | A | p.W133R |
RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47548006 | 47548133 | 47548050 | 47548050 | Missense_Mutation | C | T | p.R137C |
KYSE450_OESOPHAGUS | 47548006 | 47548133 | 47548104 | 47548104 | Missense_Mutation | A | G | p.M155V |
TE11_OESOPHAGUS | 47548006 | 47548133 | 47548104 | 47548104 | Missense_Mutation | A | G | p.M155V |
RMGI_OVARY | 47548006 | 47548133 | 47548104 | 47548104 | Missense_Mutation | A | G | p.M155V |
OVK18_OVARY | 47550292 | 47550416 | 47550304 | 47550304 | Missense_Mutation | G | A | p.E169K |
MIAPACA2_PANCREAS | 47550292 | 47550416 | 47550307 | 47550307 | Missense_Mutation | C | A | p.H170N |
MCC13_SKIN | 47550292 | 47550416 | 47550337 | 47550337 | Missense_Mutation | T | A | p.F180I |
BT16_SOFT_TISSUE | 47560238 | 47560341 | 47560258 | 47560258 | Missense_Mutation | A | G | p.K265E |
PCI30_UPPER_AERODIGESTIVE_TRACT | 47560238 | 47560341 | 47560271 | 47560271 | Missense_Mutation | A | G | p.K269R |
TE11_OESOPHAGUS | 47560238 | 47560341 | 47560299 | 47560299 | Missense_Mutation | G | C | p.Q278H |
HUH6_LIVER | 47581201 | 47581265 | 47581249 | 47581249 | Missense_Mutation | T | C | p.F417S |
HUH6CLONE5_LIVER | 47581201 | 47581265 | 47581249 | 47581249 | Missense_Mutation | T | C | p.F417S |
TC138_BONE | 47582322 | 47582404 | 47582364 | 47582364 | Missense_Mutation | A | C | p.I437L |
EN_ENDOMETRIUM | 47582322 | 47582404 | 47582384 | 47582384 | Missense_Mutation | A | G | p.I443M |
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47564766 | 47564956 | 47564956 | 47564956 | Splice_Site | G | A | p.W356* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP4Z1 |
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 CYP4Z1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP4Z1 |
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RelatedDrugs for CYP4Z1 |
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 CYP4Z1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |