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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 CYP24A1 |
 Gene summary |
| Gene information | Gene symbol | CYP24A1 | Gene ID | 1591 |
| Gene name | cytochrome P450 family 24 subfamily A member 1 | |
| Synonyms | CP24|CYP24|HCAI|HCINF1|P450-CC24 | |
| Cytomap | 20q13.2 | |
| Type of gene | protein-coding | |
| Description | 1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial1,25-@dihydroxyvitamin D3 24-hydroxylase24-OHasecytochrome P450 24A1cytochrome P450, family 24, subfamily A, polypeptide 1cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)cytochrome P4 | |
| Modification date | 20180519 | |
| UniProtAcc | Q07973 | |
| Context | PubMed: CYP24A1 [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 |
| CYP24A1 | GO:0033280 | response to vitamin D | 16720713 |
| CYP24A1 | GO:0055114 | oxidation-reduction process | 8506296 |
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Exon skipping events across known transcript of Ensembl for CYP24A1 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 CYP24A1 |
| 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 CYP24A1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358211 | 20 | 52773707:52773828:52773926:52774124:52774624:52774703 | 52773926:52774124 | ENSG00000019186.5 | ENST00000216862.3,ENST00000395954.3 |
| exon_skip_358216 | 20 | 52788115:52788209:52789447:52789638:52789860:52789955 | 52789447:52789638 | ENSG00000019186.5 | ENST00000395955.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP24A1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358211 | 20 | 52773707:52773828:52773926:52774124:52774624:52774703 | 52773926:52774124 | ENSG00000019186.5 | ENST00000216862.3,ENST00000395954.3 |
| exon_skip_358216 | 20 | 52788115:52788209:52789447:52789638:52789860:52789955 | 52789447:52789638 | ENSG00000019186.5 | ENST00000395955.3 |
| 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 CYP24A1 |
| 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 |
| ENST00000216862 | 52773926 | 52774124 | 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 |
| ENST00000216862 | 52773926 | 52774124 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CYP24A1 |
| 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 |
| ENST00000216862 | 3279 | 514 | 52773926 | 52774124 | 1631 | 1828 | 412 | 478 |
| 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 |
| ENST00000216862 | 3279 | 514 | 52773926 | 52774124 | 1631 | 1828 | 412 | 478 |
| 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 |
| Q07973 | 412 | 478 | 413 | 478 | Alternative sequence | ID=VSP_043101;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q07973 | 412 | 478 | 36 | 514 | Chain | ID=PRO_0000003615;Note=1%2C25-dihydroxyvitamin D(3) 24-hydroxylase%2C mitochondrial |
| Q07973 | 412 | 478 | 462 | 462 | Metal binding | Note=Iron (heme axial ligand);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| 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 |
| Q07973 | 412 | 478 | 413 | 478 | Alternative sequence | ID=VSP_043101;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q07973 | 412 | 478 | 36 | 514 | Chain | ID=PRO_0000003615;Note=1%2C25-dihydroxyvitamin D(3) 24-hydroxylase%2C mitochondrial |
| Q07973 | 412 | 478 | 462 | 462 | Metal binding | Note=Iron (heme axial ligand);Ontology_term=ECO:0000250;evidence=ECO:0000250 |
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SNVs in the skipped exons for CYP24A1 |
| - 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-DD-A39Y-01 | exon_skip_358211 | 52773927 | 52774124 | 52774022 | 52774022 | Frame_Shift_Del | T | - | p.I447fs |
| LIHC | TCGA-ED-A459-01 | exon_skip_358216 | 52789448 | 52789638 | 52789494 | 52789494 | Nonsense_Mutation | T | A | p.K135* |
| BRCA | TCGA-AN-A0XP-01 | exon_skip_358216 | 52789448 | 52789638 | 52789446 | 52789446 | Splice_Site | A | T | e2+2 |
| - 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 |
| MM426_SKIN | 52773927 | 52774124 | 52773964 | 52773964 | Missense_Mutation | C | T | p.R466Q |
| SW684_SOFT_TISSUE | 52773927 | 52774124 | 52773982 | 52773982 | Missense_Mutation | C | T | p.R460K |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52773927 | 52774124 | 52773992 | 52773992 | Missense_Mutation | C | T | p.V457I |
| SKRC20_KIDNEY | 52773927 | 52774124 | 52773992 | 52773992 | Missense_Mutation | C | T | p.V457I |
| A375_SKIN | 52773927 | 52774124 | 52774016 | 52774016 | Missense_Mutation | G | A | p.P449S |
| NCIBL1770_MATCHED_NORMAL_TISSUE | 52773927 | 52774124 | 52774034 | 52774034 | Missense_Mutation | C | T | p.E443K |
| NCIH1770_LUNG | 52773927 | 52774124 | 52774034 | 52774034 | Missense_Mutation | C | T | p.E443K |
| NCIH2106_LUNG | 52773927 | 52774124 | 52774034 | 52774034 | Missense_Mutation | C | T | p.E443K |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 52789448 | 52789638 | 52789457 | 52789457 | Missense_Mutation | A | G | p.L147P |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52789448 | 52789638 | 52789481 | 52789481 | Missense_Mutation | T | C | p.D139G |
| HEC1_ENDOMETRIUM | 52789448 | 52789638 | 52789499 | 52789499 | Missense_Mutation | G | A | p.P133L |
| NCIH838_LUNG | 52789448 | 52789638 | 52789544 | 52789544 | Missense_Mutation | A | T | p.L118Q |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52789448 | 52789638 | 52789587 | 52789587 | Missense_Mutation | A | G | p.F104L |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52789448 | 52789638 | 52789587 | 52789587 | Missense_Mutation | A | G | p.F104L |
| MFE319_ENDOMETRIUM | 52789448 | 52789638 | 52789631 | 52789631 | Missense_Mutation | T | C | p.Y89C |
| HUCCT1_BILIARY_TRACT | 52773927 | 52774124 | 52774037 | 52774037 | Nonsense_Mutation | G | A | p.Q442* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP24A1 |
| 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 CYP24A1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP24A1 |
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RelatedDrugs for CYP24A1 |
| 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 CYP24A1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CYP24A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
| CYP24A1 | C0020437 | Hypercalcemia | 1 | CTD_human |
| CYP24A1 | C0020438 | Hypercalciuria | 1 | CTD_human;HPO |
| CYP24A1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| CYP24A1 | C0029456 | Osteoporosis | 1 | CTD_human |
| CYP24A1 | C0392525 | Nephrolithiasis | 1 | CTD_human |
| CYP24A1 | C0475732 | Hypercalcemia, Infantile | 1 | HPO;ORPHANET;UNIPROT |
| CYP24A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| CYP24A1 | C1565489 | Renal Insufficiency | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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