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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 CYP4F12 |
 Gene summary |
| Gene information | Gene symbol | CYP4F12 | Gene ID | 66002 |
| Gene name | cytochrome P450 family 4 subfamily F member 12 | |
| Synonyms | CYPIVF12|F22329_1 | |
| Cytomap | 19p13.12 | |
| Type of gene | protein-coding | |
| Description | cytochrome P450 4F12cytochrome P450, family 4, subfamily F, polypeptide 12cytochrome P450, subfamily IVF, polypeptide 12 | |
| Modification date | 20180522 | |
| UniProtAcc | Q9HCS2 | |
| Context | PubMed: CYP4F12 [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 CYP4F12 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 CYP4F12 |
| 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 CYP4F12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303094 | 19 | 15783899:15783945:15784338:15784537:15789070:15789139 | 15784338:15784537 | ENSG00000186204.10 | ENST00000550264.1,ENST00000451750.1,ENST00000548501.2,ENST00000430608.2,ENST00000546792.1,ENST00000518629.3,ENST00000547332.1,ENST00000547471.1,ENST00000517734.1,ENST00000548435.1 |
| exon_skip_303095 | 19 | 15783899:15783945:15784338:15784537:15791053:15791062 | 15784338:15784537 | ENSG00000186204.10 | ENST00000549622.1,ENST00000548237.1 |
| exon_skip_303099 | 19 | 15784338:15784537:15789070:15789139:15791053:15791062 | 15789070:15789139 | ENSG00000186204.10 | ENST00000548501.2,ENST00000546792.1,ENST00000518629.3,ENST00000517734.1,ENST00000548435.1 |
| exon_skip_303100 | 19 | 15784338:15784537:15789070:15789215:15791053:15791062 | 15789070:15789215 | ENSG00000186204.10 | ENST00000550308.1,ENST00000451750.1,ENST00000430608.2,ENST00000324632.10 |
| exon_skip_303101 | 19 | 15791201:15791329:15791869:15791973:15792494:15792532 | 15791869:15791973 | ENSG00000186204.10 | ENST00000548237.1 |
| exon_skip_303108 | 19 | 15791869:15791973:15792494:15792532:15793198:15793245 | 15792494:15792532 | ENSG00000186204.10 | ENST00000548237.1 |
| exon_skip_303114 | 19 | 15795877:15796007:15806745:15806879:15806970:15807035 | 15806745:15806879 | ENSG00000186204.10 | ENST00000550308.1,ENST00000550627.1,ENST00000546608.1,ENST00000518629.3,ENST00000324632.10,ENST00000517734.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CYP4F12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_303094 | 19 | 15783899:15783945:15784338:15784537:15789070:15789139 | 15784338:15784537 | ENSG00000186204.10 | ENST00000547332.1,ENST00000547471.1,ENST00000451750.1,ENST00000430608.2,ENST00000518629.3,ENST00000548501.2,ENST00000548435.1,ENST00000546792.1,ENST00000550264.1,ENST00000517734.1 |
| exon_skip_303095 | 19 | 15783899:15783945:15784338:15784537:15791053:15791062 | 15784338:15784537 | ENSG00000186204.10 | ENST00000548237.1,ENST00000549622.1 |
| exon_skip_303099 | 19 | 15784338:15784537:15789070:15789139:15791053:15791062 | 15789070:15789139 | ENSG00000186204.10 | ENST00000518629.3,ENST00000548501.2,ENST00000548435.1,ENST00000546792.1,ENST00000517734.1 |
| exon_skip_303100 | 19 | 15784338:15784537:15789070:15789215:15791053:15791062 | 15789070:15789215 | ENSG00000186204.10 | ENST00000550308.1,ENST00000451750.1,ENST00000430608.2,ENST00000324632.10 |
| exon_skip_303101 | 19 | 15791201:15791329:15791869:15791973:15792494:15792532 | 15791869:15791973 | ENSG00000186204.10 | ENST00000548237.1 |
| exon_skip_303108 | 19 | 15791869:15791973:15792494:15792532:15793198:15793245 | 15792494:15792532 | ENSG00000186204.10 | ENST00000548237.1 |
| exon_skip_303114 | 19 | 15795877:15796007:15806745:15806879:15806970:15807035 | 15806745:15806879 | ENSG00000186204.10 | ENST00000550308.1,ENST00000518629.3,ENST00000517734.1,ENST00000324632.10,ENST00000550627.1,ENST00000546608.1 |
| 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 CYP4F12 |
| 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 |
| ENST00000324632 | 15789070 | 15789215 | Frame-shift |
| ENST00000550308 | 15789070 | 15789215 | Frame-shift |
| ENST00000324632 | 15806745 | 15806879 | Frame-shift |
| ENST00000550308 | 15806745 | 15806879 | Frame-shift |
| 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 |
| ENST00000324632 | 15789070 | 15789215 | Frame-shift |
| ENST00000550308 | 15789070 | 15789215 | Frame-shift |
| ENST00000324632 | 15806745 | 15806879 | Frame-shift |
| ENST00000550308 | 15806745 | 15806879 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CYP4F12 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for CYP4F12 |
| - 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_303100 | 15789071 | 15789215 | 15789164 | 15789164 | Frame_Shift_Del | T | - | p.F98fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_303114 | 15806746 | 15806879 | 15806807 | 15806807 | Frame_Shift_Del | C | - | p.P394fs |
| SKCM | TCGA-EE-A3JD-06 | exon_skip_303094 exon_skip_303095 | 15784339 | 15784537 | 15784425 | 15784425 | Nonsense_Mutation | G | A | p.W29* |
| SKCM | TCGA-EE-A3JD-06 | exon_skip_303094 exon_skip_303095 | 15784339 | 15784537 | 15784425 | 15784425 | Nonsense_Mutation | G | A | p.W29X |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_303094 exon_skip_303095 | 15784339 | 15784537 | 15784426 | 15784426 | Nonsense_Mutation | G | A | p.W29* |
| LUAD | TCGA-55-7724-01 | exon_skip_303100 | 15789071 | 15789215 | 15789145 | 15789145 | Nonsense_Mutation | G | A | p.W91* |
| SKCM | TCGA-EE-A29S-06 | exon_skip_303114 | 15806746 | 15806879 | 15806746 | 15806746 | Nonsense_Mutation | G | A | p.W372X |
| BLCA | TCGA-E7-A677-01 | exon_skip_303114 | 15806746 | 15806879 | 15806828 | 15806828 | Nonsense_Mutation | C | T | p.R400* |
| - 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 |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15784339 | 15784537 | 15784415 | 15784415 | Frame_Shift_Del | G | - | p.V26fs |
| NCIH2110_LUNG | 15784339 | 15784537 | 15784355 | 15784355 | Missense_Mutation | C | A | p.L6M |
| NCIH2170_LUNG | 15789071 | 15789139 | 15789112 | 15789112 | Missense_Mutation | G | A | p.M80I |
| NCIH2170_LUNG | 15789071 | 15789215 | 15789112 | 15789112 | Missense_Mutation | G | A | p.M80I |
| LIM1215_LARGE_INTESTINE | 15789071 | 15789215 | 15789146 | 15789146 | Missense_Mutation | C | A | p.L92M |
| SW684_SOFT_TISSUE | 15789071 | 15789215 | 15789162 | 15789162 | Missense_Mutation | C | T | p.P97L |
| C10_LARGE_INTESTINE | 15789071 | 15789215 | 15789194 | 15789194 | Missense_Mutation | C | T | p.R108W |
| MC1010_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15789071 | 15789215 | 15789194 | 15789194 | Missense_Mutation | C | T | p.R108W |
| MEWO_SKIN | 15806746 | 15806879 | 15806816 | 15806816 | Missense_Mutation | C | T | p.P396S |
| NCIH1876_LUNG | 15784339 | 15784537 | 15784449 | 15784449 | Nonsense_Mutation | G | A | p.W37* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CYP4F12 |
| 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 CYP4F12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CYP4F12 |
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RelatedDrugs for CYP4F12 |
| 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 CYP4F12 |
| 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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