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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 FADS1 |
 Gene summary |
| Gene information | Gene symbol | FADS1 | Gene ID | 3992 |
| Gene name | fatty acid desaturase 1 | |
| Synonyms | D5D|FADS6|FADSD5|LLCDL1|TU12 | |
| Cytomap | 11q12.2 | |
| Type of gene | protein-coding | |
| Description | fatty acid desaturase 1delta(5) desaturasedelta-5 fatty acid desaturaselinoleoyl-CoA desaturase (delta-6-desaturase)-like 1 | |
| Modification date | 20180519 | |
| UniProtAcc | O60427 | |
| Context | PubMed: FADS1 [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 |
| FADS1 | GO:0006636 | unsaturated fatty acid biosynthetic process | 10601301 |
| FADS1 | GO:0009267 | cellular response to starvation | 10601301 |
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Exon skipping events across known transcript of Ensembl for FADS1 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 FADS1 |
| 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 FADS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71690 | 11 | 61569784:61569934:61570272:61570398:61570503:61570583 | 61570272:61570398 | ENSG00000149485.12 | ENST00000460649.1,ENST00000542506.1,ENST00000433932.1,ENST00000536991.1,ENST00000350997.7 |
| exon_skip_71694 | 11 | 61570307:61570398:61570503:61570583:61570834:61570931 | 61570503:61570583 | ENSG00000149485.12 | ENST00000460649.1,ENST00000542506.1,ENST00000496123.2,ENST00000433932.1,ENST00000536991.1,ENST00000350997.7 |
| exon_skip_71696 | 11 | 61574135:61574196:61578222:61578351:61578445:61578547 | 61578222:61578351 | ENSG00000149485.12 | ENST00000542506.1,ENST00000433932.1,ENST00000350997.7 |
| exon_skip_71698 | 11 | 61578481:61578547:61579290:61579450:61579942:61580136 | 61579290:61579450 | ENSG00000149485.12 | ENST00000424501.1 |
| exon_skip_71701 | 11 | 61580060:61580140:61580714:61580825:61584026:61584074 | 61580714:61580825 | ENSG00000149485.12 | ENST00000424501.1 |
| exon_skip_71705 | 11 | 61580728:61580825:61580926:61581040:61583257:61583620 | 61580926:61581040 | ENSG00000149485.12 | ENST00000473263.1 |
| exon_skip_71709 | 11 | 61580728:61580825:61595921:61596180:61596672:61596781 | 61595921:61596180 | ENSG00000149485.12 | ENST00000448607.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FADS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71690 | 11 | 61569784:61569934:61570272:61570398:61570503:61570583 | 61570272:61570398 | ENSG00000149485.12 | ENST00000350997.7,ENST00000536991.1,ENST00000433932.1,ENST00000460649.1,ENST00000542506.1 |
| exon_skip_71694 | 11 | 61570307:61570398:61570503:61570583:61570834:61570931 | 61570503:61570583 | ENSG00000149485.12 | ENST00000350997.7,ENST00000536991.1,ENST00000433932.1,ENST00000460649.1,ENST00000542506.1,ENST00000496123.2 |
| exon_skip_71696 | 11 | 61574135:61574196:61578222:61578351:61578445:61578547 | 61578222:61578351 | ENSG00000149485.12 | ENST00000350997.7,ENST00000433932.1,ENST00000542506.1 |
| exon_skip_71698 | 11 | 61578481:61578547:61579290:61579450:61579942:61580136 | 61579290:61579450 | ENSG00000149485.12 | ENST00000424501.1 |
| exon_skip_71701 | 11 | 61580060:61580140:61580714:61580825:61584026:61584074 | 61580714:61580825 | ENSG00000149485.12 | ENST00000424501.1 |
| exon_skip_71705 | 11 | 61580728:61580825:61580926:61581040:61583257:61583620 | 61580926:61581040 | ENSG00000149485.12 | ENST00000473263.1 |
| exon_skip_71709 | 11 | 61580728:61580825:61595921:61596180:61596672:61596781 | 61595921:61596180 | ENSG00000149485.12 | ENST00000448607.1 |
| 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 FADS1 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for FADS1 |
| 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 FADS1 |
| - 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_71690 | 61570273 | 61570398 | 61570352 | 61570352 | Frame_Shift_Del | G | - | p.L459fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_71696 | 61578223 | 61578351 | 61578241 | 61578241 | Frame_Shift_Del | C | - | p.G299fs |
| BRCA | TCGA-EW-A1PD-01 | exon_skip_71696 | 61578223 | 61578351 | 61578278 | 61578287 | Frame_Shift_Del | GGGTCTTTGC | - | p.R284fs |
| STAD | TCGA-BR-4368-01 | exon_skip_71696 | 61578223 | 61578351 | 61578343 | 61578343 | Frame_Shift_Del | G | - | p.A266fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_71701 | 61580715 | 61580825 | 61580794 | 61580794 | Frame_Shift_Del | C | - | p.G136fs |
| - 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 |
| HCC4006_LUNG | 61570273 | 61570398 | 61570283 | 61570283 | Missense_Mutation | C | T | p.D482N |
| KMM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61570273 | 61570398 | 61570375 | 61570375 | Missense_Mutation | T | C | p.H451R |
| SW1990_PANCREAS | 61578223 | 61578351 | 61578347 | 61578347 | Missense_Mutation | G | A | p.A264V |
| MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61580715 | 61580825 | 61580725 | 61580725 | Missense_Mutation | G | A | p.P159L |
| U266B1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61580715 | 61580825 | 61580749 | 61580749 | Missense_Mutation | G | C | p.S151C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FADS1 |
| 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 FADS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FADS1 |
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RelatedDrugs for FADS1 |
| 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 FADS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FADS1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| FADS1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| FADS1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| FADS1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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