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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 FADS3 |
 Gene summary |
| Gene information | Gene symbol | FADS3 | Gene ID | 3995 |
| Gene name | fatty acid desaturase 3 | |
| Synonyms | CYB5RP|LLCDL3 | |
| Cytomap | 11q12.2 | |
| Type of gene | protein-coding | |
| Description | fatty acid desaturase 3cytochrome b5-related proteindelta-9 fatty acid desaturasedelta-9-desaturaselinoleoyl-CoA desaturase (delta-9-desaturase)-like 3 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9Y5Q0 | |
| Context | PubMed: FADS3 [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 FADS3 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 FADS3 |
| 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 FADS3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71712 | 11 | 61643582:61643662:61643830:61643927:61644337:61644343 | 61643830:61643927 | ENSG00000221968.4 | ENST00000278829.2,ENST00000527697.1,ENST00000527379.1,ENST00000525588.1 |
| exon_skip_71716 | 11 | 61643582:61643662:61643842:61643927:61644337:61644343 | 61643842:61643927 | ENSG00000221968.4 | ENST00000525094.1 |
| exon_skip_71719 | 11 | 61643842:61643927:61644337:61644435:61644982:61645059 | 61644337:61644435 | ENSG00000221968.4 | ENST00000278829.2,ENST00000527697.1,ENST00000527379.1,ENST00000525588.1 |
| exon_skip_71726 | 11 | 61644383:61644435:61644982:61645059:61645626:61645687 | 61644982:61645059 | ENSG00000221968.4 | ENST00000540820.1,ENST00000278829.2,ENST00000527697.1,ENST00000534223.1,ENST00000527379.1,ENST00000525588.1,ENST00000531956.1,ENST00000529404.1 |
| exon_skip_71730 | 11 | 61644982:61645059:61645626:61645687:61645983:61646054 | 61645626:61645687 | ENSG00000221968.4 | ENST00000540820.1,ENST00000278829.2,ENST00000527697.1,ENST00000526294.1,ENST00000534223.1,ENST00000527379.1,ENST00000525588.1,ENST00000531956.1,ENST00000529404.1 |
| exon_skip_71734 | 11 | 61645626:61645687:61645983:61646106:61646217:61646319 | 61645983:61646106 | ENSG00000221968.4 | ENST00000414624.2,ENST00000533676.1,ENST00000540820.1,ENST00000278829.2,ENST00000527697.1,ENST00000526294.1,ENST00000534223.1,ENST00000525588.1,ENST00000531956.1,ENST00000529404.1 |
| exon_skip_71736 | 11 | 61646217:61646319:61646783:61646981:61647512:61647623 | 61646783:61646981 | ENSG00000221968.4 | ENST00000414624.2,ENST00000533676.1,ENST00000540820.1,ENST00000278829.2,ENST00000527697.1,ENST00000534223.1,ENST00000534426.1,ENST00000531956.1,ENST00000529404.1 |
| exon_skip_71737 | 11 | 61646217:61646319:61646867:61646981:61647512:61647623 | 61646867:61646981 | ENSG00000221968.4 | ENST00000525588.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FADS3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71712 | 11 | 61643582:61643662:61643830:61643927:61644337:61644343 | 61643830:61643927 | ENSG00000221968.4 | ENST00000527697.1,ENST00000278829.2,ENST00000527379.1,ENST00000525588.1 |
| exon_skip_71716 | 11 | 61643582:61643662:61643842:61643927:61644337:61644343 | 61643842:61643927 | ENSG00000221968.4 | ENST00000525094.1 |
| exon_skip_71719 | 11 | 61643842:61643927:61644337:61644435:61644982:61645059 | 61644337:61644435 | ENSG00000221968.4 | ENST00000527697.1,ENST00000278829.2,ENST00000527379.1,ENST00000525588.1 |
| exon_skip_71726 | 11 | 61644383:61644435:61644982:61645059:61645626:61645687 | 61644982:61645059 | ENSG00000221968.4 | ENST00000527697.1,ENST00000278829.2,ENST00000529404.1,ENST00000527379.1,ENST00000540820.1,ENST00000525588.1,ENST00000531956.1,ENST00000534223.1 |
| exon_skip_71730 | 11 | 61644982:61645059:61645626:61645687:61645983:61646054 | 61645626:61645687 | ENSG00000221968.4 | ENST00000527697.1,ENST00000278829.2,ENST00000529404.1,ENST00000527379.1,ENST00000540820.1,ENST00000525588.1,ENST00000531956.1,ENST00000534223.1,ENST00000526294.1 |
| exon_skip_71734 | 11 | 61645626:61645687:61645983:61646106:61646217:61646319 | 61645983:61646106 | ENSG00000221968.4 | ENST00000527697.1,ENST00000533676.1,ENST00000278829.2,ENST00000529404.1,ENST00000540820.1,ENST00000525588.1,ENST00000531956.1,ENST00000534223.1,ENST00000526294.1,ENST00000414624.2 |
| exon_skip_71736 | 11 | 61646217:61646319:61646783:61646981:61647512:61647623 | 61646783:61646981 | ENSG00000221968.4 | ENST00000527697.1,ENST00000533676.1,ENST00000278829.2,ENST00000529404.1,ENST00000540820.1,ENST00000531956.1,ENST00000534223.1,ENST00000414624.2,ENST00000534426.1 |
| exon_skip_71737 | 11 | 61646217:61646319:61646867:61646981:61647512:61647623 | 61646867:61646981 | ENSG00000221968.4 | ENST00000525588.1 |
| 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 FADS3 |
| 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 |
| ENST00000278829 | 61643830 | 61643927 | Frame-shift |
| ENST00000278829 | 61644337 | 61644435 | Frame-shift |
| ENST00000278829 | 61644982 | 61645059 | Frame-shift |
| ENST00000278829 | 61645626 | 61645687 | Frame-shift |
| ENST00000278829 | 61645983 | 61646106 | In-frame |
| ENST00000278829 | 61646783 | 61646981 | 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 |
| ENST00000278829 | 61643830 | 61643927 | Frame-shift |
| ENST00000278829 | 61644337 | 61644435 | Frame-shift |
| ENST00000278829 | 61644982 | 61645059 | Frame-shift |
| ENST00000278829 | 61645626 | 61645687 | Frame-shift |
| ENST00000278829 | 61645983 | 61646106 | In-frame |
| ENST00000278829 | 61646783 | 61646981 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FADS3 |
| 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 |
| ENST00000278829 | 1796 | 445 | 61646783 | 61646981 | 478 | 675 | 108 | 174 |
| ENST00000278829 | 1796 | 445 | 61645983 | 61646106 | 778 | 900 | 208 | 249 |
| 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 |
| ENST00000278829 | 1796 | 445 | 61646783 | 61646981 | 478 | 675 | 108 | 174 |
| ENST00000278829 | 1796 | 445 | 61645983 | 61646106 | 778 | 900 | 208 | 249 |
| 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 |
| Q9Y5Q0 | 108 | 174 | 1 | 445 | Chain | ID=PRO_0000307108;Note=Fatty acid desaturase 3 |
| Q9Y5Q0 | 108 | 174 | 1 | 133 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 155 | 159 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 208 | 249 | 1 | 445 | Chain | ID=PRO_0000307108;Note=Fatty acid desaturase 3 |
| Q9Y5Q0 | 208 | 249 | 219 | 223 | Motif | Note=Histidine box-2 |
| Q9Y5Q0 | 208 | 249 | 216 | 216 | Natural variant | ID=VAR_035342;Note=N->K;Dbxref=dbSNP:rs34511441 |
| Q9Y5Q0 | 208 | 249 | 181 | 263 | Topological domain | Note=Cytoplasmic;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 |
| Q9Y5Q0 | 108 | 174 | 1 | 445 | Chain | ID=PRO_0000307108;Note=Fatty acid desaturase 3 |
| Q9Y5Q0 | 108 | 174 | 1 | 133 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 155 | 159 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 134 | 154 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 108 | 174 | 160 | 180 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y5Q0 | 208 | 249 | 1 | 445 | Chain | ID=PRO_0000307108;Note=Fatty acid desaturase 3 |
| Q9Y5Q0 | 208 | 249 | 219 | 223 | Motif | Note=Histidine box-2 |
| Q9Y5Q0 | 208 | 249 | 216 | 216 | Natural variant | ID=VAR_035342;Note=N->K;Dbxref=dbSNP:rs34511441 |
| Q9Y5Q0 | 208 | 249 | 181 | 263 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for FADS3 |
| - 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-A3A0-01 | exon_skip_71730 | 61645627 | 61645687 | 61645642 | 61645642 | Frame_Shift_Del | G | - | p.L265fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_71736 | 61646784 | 61646981 | 61646887 | 61646887 | Frame_Shift_Del | C | - | p.G140fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_71737 | 61646868 | 61646981 | 61646887 | 61646887 | Frame_Shift_Del | C | - | p.G140fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_71736 | 61646784 | 61646981 | 61646921 | 61646924 | Frame_Shift_Del | CAAA | - | p.FD128fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_71737 | 61646868 | 61646981 | 61646921 | 61646924 | Frame_Shift_Del | CAAA | - | p.FD128fs |
| - 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 |
| K2_SKIN | 61643831 | 61643927 | 61643835 | 61643835 | Missense_Mutation | G | A | p.S359F |
| HEC59_ENDOMETRIUM | 61644338 | 61644435 | 61644407 | 61644407 | Missense_Mutation | G | A | p.A305V |
| NCIH684_LIVER | 61644983 | 61645059 | 61645011 | 61645011 | Missense_Mutation | G | A | p.A286V |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61644983 | 61645059 | 61645050 | 61645050 | Missense_Mutation | G | A | p.P273L |
| KM12_LARGE_INTESTINE | 61644983 | 61645059 | 61645051 | 61645051 | Missense_Mutation | G | A | p.P273S |
| NCIH1573_LUNG | 61645627 | 61645687 | 61645634 | 61645634 | Missense_Mutation | G | T | p.F267L |
| SNUC2A_LARGE_INTESTINE | 61645984 | 61646106 | 61646061 | 61646061 | Missense_Mutation | C | T | p.A224T |
| SNUC4_LARGE_INTESTINE | 61645984 | 61646106 | 61646061 | 61646061 | Missense_Mutation | C | T | p.A224T |
| SNUC2B_LARGE_INTESTINE | 61645984 | 61646106 | 61646061 | 61646061 | Missense_Mutation | C | T | p.A224T |
| UCH2_BONE | 61646784 | 61646981 | 61646807 | 61646807 | Missense_Mutation | C | T | p.A167T |
| SKMEL24_SKIN | 61646784 | 61646981 | 61646885 | 61646885 | Missense_Mutation | G | A | p.H141Y |
| SKMEL24_SKIN | 61646868 | 61646981 | 61646885 | 61646885 | Missense_Mutation | G | A | p.H141Y |
| HCT116_LARGE_INTESTINE | 61643831 | 61643927 | 61643832 | 61643832 | Splice_Site | T | C | p.Q360R |
| NCIH1930_LUNG | 61644338 | 61644435 | 61644435 | 61644435 | Splice_Site | C | A | p.D296Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FADS3 |
| 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 FADS3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FADS3 |
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RelatedDrugs for FADS3 |
| 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 FADS3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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