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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 FASN |
 Gene summary |
| Gene information | Gene symbol | FASN | Gene ID | 2194 |
| Gene name | fatty acid synthase | |
| Synonyms | FAS|OA-519|SDR27X1 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | fatty acid synthaseshort chain dehydrogenase/reductase family 27X, member 1 | |
| Modification date | 20180522 | |
| UniProtAcc | P49327 | |
| Context | PubMed: FASN [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 FASN 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 FASN |
| 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 FASN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294833 | 17 | 80037406:80037484:80038015:80038114:80038245:80038411 | 80038015:80038114 | ENSG00000169710.6 | ENST00000578424.1,ENST00000306749.2,ENST00000580382.1 |
| exon_skip_294837 | 17 | 80038567:80038798:80039039:80039228:80039476:80039719 | 80039039:80039228 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294839 | 17 | 80039039:80039228:80039476:80039719:80039884:80040036 | 80039476:80039719 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294843 | 17 | 80039476:80039719:80039884:80040036:80040198:80040290 | 80039884:80040036 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294846 | 17 | 80040198:80040290:80040402:80040554:80040789:80040991 | 80040402:80040554 | ENSG00000169710.6 | ENST00000579758.1,ENST00000306749.2 |
| exon_skip_294853 | 17 | 80040789:80040991:80041077:80041301:80041392:80041515 | 80041077:80041301 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294855 | 17 | 80041647:80041767:80041850:80042029:80042109:80042260 | 80041850:80042029 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294858 | 17 | 80042674:80042829:80042910:80043032:80043113:80043278 | 80042910:80043032 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294860 | 17 | 80044129:80044434:80044925:80045129:80045200:80045380 | 80044925:80045129 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294864 | 17 | 80045560:80045737:80045829:80045910:80045991:80046183 | 80045829:80045910 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294865 | 17 | 80046844:80047048:80047125:80047260:80047507:80047602 | 80047125:80047260 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294868 | 17 | 80050572:80050688:80050772:80050895:80051094:80051295 | 80050772:80050895 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294871 | 17 | 80051094:80051295:80051473:80051647:80053195:80053348 | 80051473:80051647 | ENSG00000169710.6 | ENST00000306749.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FASN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_294833 | 17 | 80037406:80037484:80038015:80038114:80038245:80038411 | 80038015:80038114 | ENSG00000169710.6 | ENST00000306749.2,ENST00000580382.1,ENST00000578424.1 |
| exon_skip_294837 | 17 | 80038567:80038798:80039039:80039228:80039476:80039719 | 80039039:80039228 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294839 | 17 | 80039039:80039228:80039476:80039719:80039884:80040036 | 80039476:80039719 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294843 | 17 | 80039476:80039719:80039884:80040036:80040198:80040290 | 80039884:80040036 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294846 | 17 | 80040198:80040290:80040402:80040554:80040789:80040991 | 80040402:80040554 | ENSG00000169710.6 | ENST00000306749.2,ENST00000579758.1 |
| exon_skip_294853 | 17 | 80040789:80040991:80041077:80041301:80041392:80041515 | 80041077:80041301 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294855 | 17 | 80041647:80041767:80041850:80042029:80042109:80042260 | 80041850:80042029 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294858 | 17 | 80042674:80042829:80042910:80043032:80043113:80043278 | 80042910:80043032 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294860 | 17 | 80044129:80044434:80044925:80045129:80045200:80045380 | 80044925:80045129 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294864 | 17 | 80045560:80045737:80045829:80045910:80045991:80046183 | 80045829:80045910 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294865 | 17 | 80046844:80047048:80047125:80047260:80047507:80047602 | 80047125:80047260 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294868 | 17 | 80050572:80050688:80050772:80050895:80051094:80051295 | 80050772:80050895 | ENSG00000169710.6 | ENST00000306749.2 |
| exon_skip_294871 | 17 | 80051094:80051295:80051473:80051647:80053195:80053348 | 80051473:80051647 | ENSG00000169710.6 | ENST00000306749.2 |
| 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 FASN |
| 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 |
| ENST00000306749 | 80039884 | 80040036 | Frame-shift |
| ENST00000306749 | 80040402 | 80040554 | Frame-shift |
| ENST00000306749 | 80041077 | 80041301 | Frame-shift |
| ENST00000306749 | 80041850 | 80042029 | Frame-shift |
| ENST00000306749 | 80042910 | 80043032 | Frame-shift |
| ENST00000306749 | 80038015 | 80038114 | In-frame |
| ENST00000306749 | 80039039 | 80039228 | In-frame |
| ENST00000306749 | 80039476 | 80039719 | In-frame |
| ENST00000306749 | 80044925 | 80045129 | In-frame |
| ENST00000306749 | 80045829 | 80045910 | In-frame |
| ENST00000306749 | 80047125 | 80047260 | In-frame |
| ENST00000306749 | 80050772 | 80050895 | In-frame |
| ENST00000306749 | 80051473 | 80051647 | 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 |
| ENST00000306749 | 80039884 | 80040036 | Frame-shift |
| ENST00000306749 | 80040402 | 80040554 | Frame-shift |
| ENST00000306749 | 80041077 | 80041301 | Frame-shift |
| ENST00000306749 | 80041850 | 80042029 | Frame-shift |
| ENST00000306749 | 80042910 | 80043032 | Frame-shift |
| ENST00000306749 | 80038015 | 80038114 | In-frame |
| ENST00000306749 | 80039039 | 80039228 | In-frame |
| ENST00000306749 | 80039476 | 80039719 | In-frame |
| ENST00000306749 | 80044925 | 80045129 | In-frame |
| ENST00000306749 | 80045829 | 80045910 | In-frame |
| ENST00000306749 | 80047125 | 80047260 | In-frame |
| ENST00000306749 | 80050772 | 80050895 | In-frame |
| ENST00000306749 | 80051473 | 80051647 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FASN |
| 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 |
| ENST00000306749 | 8577 | 2511 | 80051473 | 80051647 | 500 | 673 | 93 | 151 |
| ENST00000306749 | 8577 | 2511 | 80050772 | 80050895 | 875 | 997 | 218 | 259 |
| ENST00000306749 | 8577 | 2511 | 80047125 | 80047260 | 2185 | 2319 | 655 | 700 |
| ENST00000306749 | 8577 | 2511 | 80045829 | 80045910 | 3005 | 3085 | 928 | 955 |
| ENST00000306749 | 8577 | 2511 | 80044925 | 80045129 | 3443 | 3646 | 1074 | 1142 |
| ENST00000306749 | 8577 | 2511 | 80039476 | 80039719 | 6383 | 6625 | 2054 | 2135 |
| ENST00000306749 | 8577 | 2511 | 80039039 | 80039228 | 6626 | 6814 | 2135 | 2198 |
| ENST00000306749 | 8577 | 2511 | 80038015 | 80038114 | 7267 | 7365 | 2349 | 2382 |
| 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 |
| ENST00000306749 | 8577 | 2511 | 80051473 | 80051647 | 500 | 673 | 93 | 151 |
| ENST00000306749 | 8577 | 2511 | 80050772 | 80050895 | 875 | 997 | 218 | 259 |
| ENST00000306749 | 8577 | 2511 | 80047125 | 80047260 | 2185 | 2319 | 655 | 700 |
| ENST00000306749 | 8577 | 2511 | 80045829 | 80045910 | 3005 | 3085 | 928 | 955 |
| ENST00000306749 | 8577 | 2511 | 80044925 | 80045129 | 3443 | 3646 | 1074 | 1142 |
| ENST00000306749 | 8577 | 2511 | 80039476 | 80039719 | 6383 | 6625 | 2054 | 2135 |
| ENST00000306749 | 8577 | 2511 | 80039039 | 80039228 | 6626 | 6814 | 2135 | 2198 |
| ENST00000306749 | 8577 | 2511 | 80038015 | 80038114 | 7267 | 7365 | 2349 | 2382 |
| 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 FASN |
| - 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_294833 | 80038016 | 80038114 | 80038101 | 80038101 | Frame_Shift_Del | T | - | p.K2354fs |
| LIHC | TCGA-UB-A7ME-01 | exon_skip_294837 | 80039040 | 80039228 | 80039126 | 80039126 | Frame_Shift_Del | A | - | p.L2170fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_294839 | 80039477 | 80039719 | 80039556 | 80039556 | Frame_Shift_Del | A | - | p.F2109fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_294846 | 80040403 | 80040554 | 80040515 | 80040515 | Frame_Shift_Del | C | - | p.G1936fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_294853 | 80041078 | 80041301 | 80041260 | 80041260 | Frame_Shift_Del | G | - | p.L1796fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_294865 | 80047126 | 80047260 | 80047148 | 80047148 | Frame_Shift_Del | G | - | p.P693fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_294865 | 80047126 | 80047260 | 80047148 | 80047148 | Frame_Shift_Del | G | - | p.P693fs |
| LIHC | TCGA-DD-AACB-01 | exon_skip_294868 | 80050773 | 80050895 | 80050789 | 80050793 | Frame_Shift_Del | ATCTG | - | p.253_255del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_294868 | 80050773 | 80050895 | 80050816 | 80050816 | Frame_Shift_Del | G | - | p.T245fs |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_294853 | 80041078 | 80041301 | 80041110 | 80041110 | Nonsense_Mutation | G | A | p.Q1845* |
| SKCM | TCGA-FS-A1ZP-06 | exon_skip_294853 | 80041078 | 80041301 | 80041110 | 80041110 | Nonsense_Mutation | G | A | p.Q1845X |
| LIHC | TCGA-DD-A113-01 | exon_skip_294865 | 80047126 | 80047260 | 80047248 | 80047248 | Nonsense_Mutation | C | A | p.E660* |
| LIHC | TCGA-DD-A113-01 | exon_skip_294865 | 80047126 | 80047260 | 80047248 | 80047248 | Nonsense_Mutation | C | A | p.E660X |
| ESCA | TCGA-KH-A6WC-01 | exon_skip_294843 | 80039885 | 80040036 | 80039884 | 80039884 | Splice_Site | C | G | . |
| ESCA | TCGA-KH-A6WC-01 | exon_skip_294843 | 80039885 | 80040036 | 80039884 | 80039884 | Splice_Site | C | G | e35+1 |
| BRCA | TCGA-BH-A203-01 | exon_skip_294865 | 80047126 | 80047260 | 80047261 | 80047261 | Splice_Site | C | A | e12-1 |
| - 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 |
| MFE296_ENDOMETRIUM | 80051474 | 80051647 | 80051614 | 80051615 | Frame_Shift_Del | GT | - | p.T105fs |
| IGROV1_OVARY | 80051474 | 80051647 | 80051614 | 80051615 | Frame_Shift_Del | GT | - | p.T105fs |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80041078 | 80041301 | 80041166 | 80041167 | Frame_Shift_Ins | - | G | p.L1826fs |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80041078 | 80041301 | 80041282 | 80041283 | Frame_Shift_Ins | - | T | p.K1787fs |
| UW228_CENTRAL_NERVOUS_SYSTEM | 80047126 | 80047260 | 80047157 | 80047165 | In_Frame_Del | ATGGCCTCC | - | p.MEA687del |
| NCIH508_LARGE_INTESTINE | 80038016 | 80038114 | 80038035 | 80038035 | Missense_Mutation | G | A | p.T2376M |
| SNU1040_LARGE_INTESTINE | 80038016 | 80038114 | 80038035 | 80038035 | Missense_Mutation | G | A | p.T2376M |
| 22RV1_PROSTATE | 80039040 | 80039228 | 80039148 | 80039148 | Missense_Mutation | G | A | p.R2163C |
| SNU175_LARGE_INTESTINE | 80039477 | 80039719 | 80039536 | 80039536 | Missense_Mutation | G | A | p.A2116V |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80039477 | 80039719 | 80039574 | 80039574 | Missense_Mutation | G | C | p.H2103Q |
| NCIH187_LUNG | 80039885 | 80040036 | 80039897 | 80039897 | Missense_Mutation | C | T | p.E2051K |
| PACADD119_PANCREAS | 80039885 | 80040036 | 80039920 | 80039920 | Missense_Mutation | C | T | p.R2043H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80039885 | 80040036 | 80039921 | 80039921 | Missense_Mutation | G | A | p.R2043C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80039885 | 80040036 | 80039921 | 80039921 | Missense_Mutation | G | A | p.R2043C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80039885 | 80040036 | 80039968 | 80039968 | Missense_Mutation | C | T | p.G2027D |
| TEN_ENDOMETRIUM | 80039885 | 80040036 | 80039974 | 80039974 | Missense_Mutation | C | G | p.G2025A |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80040403 | 80040554 | 80040452 | 80040452 | Missense_Mutation | G | T | p.A1957D |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80040403 | 80040554 | 80040490 | 80040490 | Missense_Mutation | G | C | p.S1944R |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80040403 | 80040554 | 80040494 | 80040494 | Missense_Mutation | G | T | p.T1943N |
| SNU1040_LARGE_INTESTINE | 80040403 | 80040554 | 80040546 | 80040546 | Missense_Mutation | C | T | p.A1926T |
| HCT116_LARGE_INTESTINE | 80041078 | 80041301 | 80041128 | 80041128 | Missense_Mutation | C | T | p.A1839T |
| HEC59_ENDOMETRIUM | 80041078 | 80041301 | 80041211 | 80041211 | Missense_Mutation | C | A | p.W1811L |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80041851 | 80042029 | 80041911 | 80041911 | Missense_Mutation | C | T | p.V1680M |
| CTB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80041851 | 80042029 | 80041947 | 80041947 | Missense_Mutation | C | T | p.G1668R |
| HCT15_LARGE_INTESTINE | 80041851 | 80042029 | 80041961 | 80041961 | Missense_Mutation | C | A | p.G1663V |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80041851 | 80042029 | 80041983 | 80041983 | Missense_Mutation | A | G | p.Y1656H |
| SW756_CERVIX | 80041851 | 80042029 | 80042015 | 80042015 | Missense_Mutation | G | A | p.A1645V |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80042911 | 80043032 | 80042917 | 80042917 | Missense_Mutation | C | T | p.R1468H |
| K2_SKIN | 80042911 | 80043032 | 80042918 | 80042918 | Missense_Mutation | G | T | p.R1468S |
| LS411N_LARGE_INTESTINE | 80042911 | 80043032 | 80042989 | 80042989 | Missense_Mutation | T | A | p.K1444M |
| SEKI_SKIN | 80042911 | 80043032 | 80042990 | 80042990 | Missense_Mutation | T | C | p.K1444E |
| SNU1040_LARGE_INTESTINE | 80042911 | 80043032 | 80043002 | 80043002 | Missense_Mutation | G | A | p.P1440S |
| SISO_CERVIX | 80042911 | 80043032 | 80043004 | 80043004 | Missense_Mutation | C | T | p.R1439Q |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80042911 | 80043032 | 80043004 | 80043004 | Missense_Mutation | C | T | p.R1439Q |
| MCC26_SKIN | 80042911 | 80043032 | 80043007 | 80043007 | Missense_Mutation | G | A | p.S1438F |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80044926 | 80045129 | 80044962 | 80044962 | Missense_Mutation | G | T | p.R1131S |
| SNUC5_LARGE_INTESTINE | 80044926 | 80045129 | 80045049 | 80045049 | Missense_Mutation | C | A | p.A1102S |
| SW620_LARGE_INTESTINE | 80044926 | 80045129 | 80045049 | 80045049 | Missense_Mutation | C | T | p.A1102T |
| NB69_AUTONOMIC_GANGLIA | 80044926 | 80045129 | 80045064 | 80045064 | Missense_Mutation | G | T | p.L1097I |
| OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80045830 | 80045910 | 80045872 | 80045872 | Missense_Mutation | G | A | p.R942C |
| SW48_LARGE_INTESTINE | 80045830 | 80045910 | 80045890 | 80045890 | Missense_Mutation | G | A | p.R936W |
| SKM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80047126 | 80047260 | 80047140 | 80047140 | Missense_Mutation | G | T | p.Q696K |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80047126 | 80047260 | 80047247 | 80047248 | Missense_Mutation | TC | CG | p.E660R |
| HT55_LARGE_INTESTINE | 80050773 | 80050895 | 80050815 | 80050815 | Missense_Mutation | T | G | p.I246L |
| NCIH2228_LUNG | 80050773 | 80050895 | 80050818 | 80050818 | Missense_Mutation | T | C | p.T245A |
| ES5_BONE | 80050773 | 80050895 | 80050848 | 80050848 | Missense_Mutation | T | C | p.K235E |
| OCUBM_BREAST | 80050773 | 80050895 | 80050862 | 80050862 | Missense_Mutation | G | A | p.A230V |
| MRKNU1_BREAST | 80050773 | 80050895 | 80050890 | 80050890 | Missense_Mutation | C | G | p.G221R |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80051474 | 80051647 | 80051609 | 80051609 | Missense_Mutation | C | T | p.V107I |
| NCIH2342_LUNG | 80051474 | 80051647 | 80051626 | 80051626 | Missense_Mutation | C | T | p.R101Q |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 80051474 | 80051647 | 80051633 | 80051633 | Missense_Mutation | A | G | p.S99P |
| LS1034_MATCHED_NORMAL_TISSUE | 80051474 | 80051647 | 80051636 | 80051636 | Missense_Mutation | C | T | p.D98N |
| LS1034_LARGE_INTESTINE | 80051474 | 80051647 | 80051636 | 80051636 | Missense_Mutation | C | T | p.D98N |
| SKLU1_LUNG | 80051474 | 80051647 | 80051643 | 80051643 | Missense_Mutation | G | C | p.I95M |
| BHY_UPPER_AERODIGESTIVE_TRACT | 80039477 | 80039719 | 80039498 | 80039498 | Nonsense_Mutation | C | A | p.E2129* |
| HCC2108_LUNG | 80045830 | 80045910 | 80045737 | 80045828 | Splice_Site | CCTGTGGAAAGGGAGGTGCGGAAGGGCCTGAGGACGGGCGGCATGGCCAGCGGGCACAGCCTCCGCAGCTCCCGTGCCACCGGCCCTGCTTA | - | p.V956fs |
| SNU119_OVARY | 80045830 | 80045910 | 80045737 | 80045828 | Splice_Site | CCTGTGGAAAGGGAGGTGCGGAAGGGCCTGAGGACGGGCGGCATGGCCAGCGGGCACAGCCTCCGCAGCTCCCGTGCCACCGGCCCTGCTTA | - | p.V956fs |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FASN |
| 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 FASN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FASN |
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RelatedDrugs for FASN |
| 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 |
| P49327 | DB01083 | Orlistat | Fatty acid synthase | small molecule | approved|investigational |
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RelatedDiseases for FASN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FASN | C0025202 | melanoma | 3 | CTD_human |
| FASN | C2239176 | Liver carcinoma | 3 | CTD_human |
| FASN | C1458155 | Mammary Neoplasms | 2 | CTD_human |
| FASN | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| FASN | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
| FASN | C0018801 | Heart failure | 1 | CTD_human |
| FASN | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| FASN | C0023827 | liposarcoma | 1 | CTD_human |
| FASN | C0028754 | Obesity | 1 | CTD_human |
| FASN | C0086132 | Depressive Symptoms | 1 | PSYGENET |
| FASN | C0919267 | ovarian neoplasm | 1 | CTD_human |
| FASN | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| FASN | C3714756 | Intellectual Disability | 1 | CTD_human |
| FASN | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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