|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for FAS |
 Gene summary |
| Gene information | Gene symbol | FAS | Gene ID | 355 |
| Gene name | Fas cell surface death receptor | |
| Synonyms | ALPS1A|APO-1|APT1|CD95|FAS1|FASTM|TNFRSF6 | |
| Cytomap | 10q23.31 | |
| Type of gene | protein-coding | |
| Description | tumor necrosis factor receptor superfamily member 6APO-1 cell surface antigenCD95 antigenFASLG receptorFas (TNF receptor superfamily, member 6)Fas AMATNF receptor superfamily member 6apoptosis antigen 1apoptosis signaling receptor FASapoptosis-me | |
| Modification date | 20180522 | |
| UniProtAcc | P25445 | |
| Context | PubMed: FAS [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 |
| FAS | GO:0006915 | apoptotic process | 9681877 |
| FAS | GO:0043065 | positive regulation of apoptotic process | 21625644 |
Top |
Exon skipping events across known transcript of Ensembl for FAS 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. |
 |
Top |
Gene isoform structures and expression levels for FAS |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for FAS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43766 | 10 | 90762785:90762951:90767456:90767594:90770295:90770357 | 90767456:90767594 | ENSG00000026103.15 | ENST00000488877.1,ENST00000466081.1,ENST00000494410.1,ENST00000492756.1 |
| exon_skip_43767 | 10 | 90767456:90767594:90768645:90768754:90770295:90770357 | 90768645:90768754 | ENSG00000026103.15 | ENST00000352159.4,ENST00000477270.1,ENST00000487314.1,ENST00000357339.2,ENST00000313771.5,ENST00000355740.2,ENST00000355279.2,ENST00000371857.3 |
| exon_skip_43768 | 10 | 90770295:90770357:90770509:90770572:90771755:90771838 | 90770509:90770572 | ENSG00000026103.15 | ENST00000488877.1,ENST00000484444.1,ENST00000352159.4,ENST00000487314.1,ENST00000313771.5,ENST00000355740.2,ENST00000355279.2,ENST00000494799.1 |
| exon_skip_43769 | 10 | 90770295:90770357:90770509:90770572:90773099:90773124 | 90770509:90770572 | ENSG00000026103.15 | ENST00000494410.1 |
| exon_skip_43772 | 10 | 90770295:90770357:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENSG00000026103.15 | ENST00000479522.1,ENST00000492756.1,ENST00000357339.2 |
| exon_skip_43775 | 10 | 90770509:90770572:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENSG00000026103.15 | ENST00000488877.1,ENST00000484444.1,ENST00000352159.4,ENST00000313771.5,ENST00000355740.2,ENST00000494799.1 |
| exon_skip_43777 | 10 | 90771755:90771838:90773099:90773124:90773875:90773934 | 90773099:90773124 | ENSG00000026103.15 | ENST00000488877.1,ENST00000484444.1,ENST00000479522.1,ENST00000492756.1,ENST00000357339.2,ENST00000313771.5,ENST00000355740.2,ENST00000494799.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for FAS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43766 | 10 | 90762785:90762951:90767456:90767594:90770295:90770357 | 90767456:90767594 | ENSG00000026103.15 | ENST00000488877.1,ENST00000494410.1,ENST00000492756.1,ENST00000466081.1 |
| exon_skip_43767 | 10 | 90767456:90767594:90768645:90768754:90770295:90770357 | 90768645:90768754 | ENSG00000026103.15 | ENST00000355740.2,ENST00000352159.4,ENST00000357339.2,ENST00000355279.2,ENST00000477270.1,ENST00000313771.5,ENST00000371857.3,ENST00000487314.1 |
| exon_skip_43768 | 10 | 90770295:90770357:90770509:90770572:90771755:90771838 | 90770509:90770572 | ENSG00000026103.15 | ENST00000355740.2,ENST00000352159.4,ENST00000484444.1,ENST00000488877.1,ENST00000355279.2,ENST00000313771.5,ENST00000494799.1,ENST00000487314.1 |
| exon_skip_43769 | 10 | 90770295:90770357:90770509:90770572:90773099:90773124 | 90770509:90770572 | ENSG00000026103.15 | ENST00000494410.1 |
| exon_skip_43772 | 10 | 90770295:90770357:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENSG00000026103.15 | ENST00000357339.2,ENST00000479522.1,ENST00000492756.1 |
| exon_skip_43775 | 10 | 90770509:90770572:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENSG00000026103.15 | ENST00000355740.2,ENST00000352159.4,ENST00000484444.1,ENST00000488877.1,ENST00000313771.5,ENST00000494799.1 |
| exon_skip_43777 | 10 | 90771755:90771838:90773099:90773124:90773875:90773934 | 90773099:90773124 | ENSG00000026103.15 | ENST00000355740.2,ENST00000484444.1,ENST00000357339.2,ENST00000488877.1,ENST00000479522.1,ENST00000492756.1,ENST00000313771.5,ENST00000494799.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for FAS |
| 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 |
| ENST00000355740 | 90768645 | 90768754 | Frame-shift |
| ENST00000355740 | 90771755 | 90771838 | Frame-shift |
| ENST00000355740 | 90773099 | 90773124 | Frame-shift |
| ENST00000355740 | 90770509 | 90770572 | 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 |
| ENST00000355740 | 90768645 | 90768754 | Frame-shift |
| ENST00000355740 | 90771755 | 90771838 | Frame-shift |
| ENST00000355740 | 90773099 | 90773124 | Frame-shift |
| ENST00000355740 | 90770509 | 90770572 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for FAS |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000355740 | 2580 | 335 | 90770509 | 90770572 | 726 | 788 | 168 | 189 |
| 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 |
| ENST00000355740 | 2580 | 335 | 90770509 | 90770572 | 726 | 788 | 168 | 189 |
| 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 |
Top |
SNVs in the skipped exons for FAS |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
FAS_DLBC_exon_skip_43777_psi_boxplot.png |
| - 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 |
| PRAD | TCGA-EJ-8469-01 | exon_skip_43767 | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F134fs |
| SARC | TCGA-3B-A9HT-01 | exon_skip_43767 | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.C135fs |
| SARC | TCGA-3B-A9HT-01 | exon_skip_43767 | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F134fs |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_43767 | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F133fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_43767 | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F133fs |
| HNSC | TCGA-KU-A6H7-01 | exon_skip_43767 | 90768646 | 90768754 | 90768732 | 90768732 | Frame_Shift_Del | G | - | p.E141fs |
| COAD | TCGA-D5-6927-01 | exon_skip_43767 | 90768646 | 90768754 | 90768707 | 90768708 | Frame_Shift_Ins | - | T | p.N132fs |
| DLBC | TCGA-GR-A4D4-01 | exon_skip_43768 exon_skip_43769 | 90770510 | 90770572 | 90770574 | 90770574 | Splice_Site | T | A | . |
| DLBC | TCGA-FA-A7Q1-01 | 90773100 | 90773124 | 90773125 | 90773125 | Splice_Site | G | C | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-FA-A7Q1-01 |
| Cancer type: DLBC | |
| ESID: | |
| Skipped exon start: 90773100 | |
| Skipped exon end: 90773124 | |
| Mutation start: 90773125 | |
| Mutation end: 90773125 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_43777_DLBC_TCGA-FA-A7Q1-01.png | |
 | Sample: TCGA-GR-A4D4-01 |
| Cancer type: DLBC | |
| ESID: exon_skip_43769 | |
| Skipped exon start: 90770510 | |
| Skipped exon end: 90770572 | |
| Mutation start: 90770574 | |
| Mutation end: 90770574 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_286364_DLBC_TCGA-GR-A4D4-01.png | |
exon_skip_339532_DLBC_TCGA-GR-A4D4-01.png | |
exon_skip_43768_DLBC_TCGA-GR-A4D4-01.png | |
| - 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 |
| C33A_CERVIX | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F134fs |
| HEC108_ENDOMETRIUM | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F134fs |
| HEC59_ENDOMETRIUM | 90768646 | 90768754 | 90768708 | 90768708 | Frame_Shift_Del | T | - | p.F134fs |
| MHHCALL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90768646 | 90768754 | 90768707 | 90768708 | Frame_Shift_Ins | - | T | p.F133fs |
| MERO83_LUNG | 90767457 | 90767594 | 90767487 | 90767487 | Missense_Mutation | A | G | p.N76S |
| MCC13_SKIN | 90767457 | 90767594 | 90767553 | 90767553 | Missense_Mutation | C | T | p.S98F |
| GCT_SOFT_TISSUE | 90767457 | 90767594 | 90767565 | 90767565 | Missense_Mutation | G | A | p.R102K |
| SW48_LARGE_INTESTINE | 90767457 | 90767594 | 90767575 | 90767575 | Missense_Mutation | A | T | p.R105S |
| HCC2108_LUNG | 90768646 | 90768754 | 90768672 | 90768672 | Missense_Mutation | C | T | p.R121W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90768646 | 90768754 | 90768712 | 90768712 | Missense_Mutation | T | C | p.F134S |
| L542_MATCHED_NORMAL_TISSUE | 90770510 | 90770572 | 90770528 | 90770528 | Missense_Mutation | G | T | p.G175V |
| KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90770510 | 90770572 | 90770530 | 90770530 | Missense_Mutation | T | G | p.W176G |
| OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90770510 | 90770572 | 90770530 | 90770530 | Missense_Mutation | T | G | p.W176G |
| RAJI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 90771756 | 90771838 | 90771762 | 90771762 | Missense_Mutation | G | T | p.R192I |
| YD15_SALIVARY_GLAND | 90771756 | 90771838 | 90771836 | 90771836 | Missense_Mutation | C | T | p.P217S |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAS |
| 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 |
| exon_skip_43772 | 10 | 90770295:90770357:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENST00000479522.1,ENST00000492756.1,ENST00000357339.2 | THCA | rs2234978 | chr10:90771829 | A/G | 2.66e-03 |
| exon_skip_43775 | 10 | 90770509:90770572:90771755:90771838:90773099:90773124 | 90771755:90771838 | ENST00000488877.1,ENST00000484444.1,ENST00000352159.4,ENST00000313771.5,ENST00000355740.2,ENST00000494799.1 | THCA | rs2234978 | chr10:90771829 | A/G | 2.66e-03 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAS |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FAS |
Top |
RelatedDrugs for FAS |
| 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 |
Top |
RelatedDiseases for FAS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FAS | C1328840 | Autoimmune Lymphoproliferative Syndrome | 11 | CTD_human;ORPHANET;UNIPROT |
| FAS | C0004364 | Autoimmune Diseases | 3 | CTD_human |
| FAS | C0878544 | Cardiomyopathies | 3 | CTD_human |
| FAS | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| FAS | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human |
| FAS | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| FAS | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| FAS | C0018939 | Hematological Disease | 1 | CTD_human |
| FAS | C0020532 | Hypersplenism | 1 | CTD_human |
| FAS | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
| FAS | C0024121 | Lung Neoplasms | 1 | CTD_human |
| FAS | C0024535 | Malaria, Falciparum | 1 | CTD_human |
| FAS | C0026896 | Myasthenia Gravis | 1 | CTD_human |
| FAS | C0027540 | Necrosis | 1 | CTD_human |
| FAS | C0027697 | Nephritis | 1 | CTD_human |
| FAS | C0032963 | Pregnancy Complications, Cardiovascular | 1 | CTD_human |
| FAS | C0033687 | Proteinuria | 1 | CTD_human |
| FAS | C0036341 | Schizophrenia | 1 | PSYGENET |
| FAS | C0039338 | Taste Disorders | 1 | CTD_human |
| FAS | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
| FAS | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| FAS | C0162557 | Liver Failure, Acute | 1 | CTD_human |
| FAS | C0242488 | Acute Lung Injury | 1 | CTD_human |
| FAS | C0242698 | Ventricular Dysfunction, Left | 1 | CTD_human |
| FAS | C0400966 | Non-alcoholic Fatty Liver Disease | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|