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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 F5 |
 Gene summary |
| Gene information | Gene symbol | F5 | Gene ID | 2153 |
| Gene name | coagulation factor V | |
| Synonyms | FVL|PCCF|RPRGL1|THPH2 | |
| Cytomap | 1q24.2 | |
| Type of gene | protein-coding | |
| Description | coagulation factor Vactivated protein c cofactorcoagulation factor V (proaccelerin, labile factor)coagulation factor V jinjiang A2 domainfactor V Leiden | |
| Modification date | 20180527 | |
| UniProtAcc | P12259 | |
| Context | PubMed: F5 [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 F5 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 F5 |
| 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 F5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34482 | 1 | 169492434:169492590:169493038:169493142:169494074:169494146 | 169493038:169493142 | ENSG00000198734.6 | ENST00000367796.3,ENST00000367797.3 |
| exon_skip_34485 | 1 | 169495138:169495255:169497152:169497332:169498845:169499056 | 169497152:169497332 | ENSG00000198734.6 | ENST00000367796.3,ENST00000367797.3 |
| exon_skip_34487 | 1 | 169497152:169497332:169498845:169499056:169500023:169500260 | 169498845:169499056 | ENSG00000198734.6 | ENST00000367796.3,ENST00000367797.3 |
| exon_skip_34489 | 1 | 169505743:169505918:169509531:169512352:169513533:169513746 | 169509531:169512352 | ENSG00000198734.6 | ENST00000367796.3,ENST00000367797.3 |
| exon_skip_34491 | 1 | 169541458:169541581:169551668:169551760:169555466:169555719 | 169551668:169551760 | ENSG00000198734.6 | ENST00000367796.3,ENST00000367797.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for F5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34482 | 1 | 169492434:169492590:169493038:169493142:169494074:169494146 | 169493038:169493142 | ENSG00000198734.6 | ENST00000367797.3,ENST00000367796.3 |
| exon_skip_34485 | 1 | 169495138:169495255:169497152:169497332:169498845:169499056 | 169497152:169497332 | ENSG00000198734.6 | ENST00000367797.3,ENST00000367796.3 |
| exon_skip_34487 | 1 | 169497152:169497332:169498845:169499056:169500023:169500260 | 169498845:169499056 | ENSG00000198734.6 | ENST00000367797.3,ENST00000367796.3 |
| exon_skip_34489 | 1 | 169505743:169505918:169509531:169512352:169513533:169513746 | 169509531:169512352 | ENSG00000198734.6 | ENST00000367797.3,ENST00000367796.3 |
| exon_skip_34491 | 1 | 169541458:169541581:169551668:169551760:169555466:169555719 | 169551668:169551760 | ENSG00000198734.6 | ENST00000367797.3,ENST00000367796.3 |
| 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 F5 |
| 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 |
| ENST00000367797 | 169493038 | 169493142 | Frame-shift |
| ENST00000367797 | 169498845 | 169499056 | Frame-shift |
| ENST00000367797 | 169509531 | 169512352 | Frame-shift |
| ENST00000367797 | 169551668 | 169551760 | Frame-shift |
| ENST00000367797 | 169497152 | 169497332 | 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 |
| ENST00000367797 | 169493038 | 169493142 | Frame-shift |
| ENST00000367797 | 169498845 | 169499056 | Frame-shift |
| ENST00000367797 | 169509531 | 169512352 | Frame-shift |
| ENST00000367797 | 169551668 | 169551760 | Frame-shift |
| ENST00000367797 | 169497152 | 169497332 | In-frame |
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Infer the effects of exon skipping event on protein functional features for F5 |
| 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 |
| ENST00000367797 | 7041 | 2224 | 169497152 | 169497332 | 5622 | 5801 | 1806 | 1866 |
| 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 |
| ENST00000367797 | 7041 | 2224 | 169497152 | 169497332 | 5622 | 5801 | 1806 | 1866 |
| 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 |
| P12259 | 1806 | 1866 | 29 | 2224 | Chain | ID=PRO_0000002978;Note=Coagulation factor V |
| P12259 | 1806 | 1866 | 1574 | 2224 | Chain | ID=PRO_0000002981;Note=Coagulation factor V light chain |
| P12259 | 1806 | 1866 | 1578 | 1907 | Domain | Note=F5/8 type A 3 |
| P12259 | 1806 | 1866 | 1761 | 1907 | Domain | Note=Plastocyanin-like 6 |
| P12259 | 1806 | 1866 | 1843 | 1843 | Metal binding | Note=Copper;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P12259 | 1806 | 1866 | 1845 | 1845 | Metal binding | Note=Copper;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P12259 | 1806 | 1866 | 1820 | 1820 | Natural variant | ID=VAR_013898;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs6026,PMID:10391209 |
| 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 |
| P12259 | 1806 | 1866 | 29 | 2224 | Chain | ID=PRO_0000002978;Note=Coagulation factor V |
| P12259 | 1806 | 1866 | 1574 | 2224 | Chain | ID=PRO_0000002981;Note=Coagulation factor V light chain |
| P12259 | 1806 | 1866 | 1578 | 1907 | Domain | Note=F5/8 type A 3 |
| P12259 | 1806 | 1866 | 1761 | 1907 | Domain | Note=Plastocyanin-like 6 |
| P12259 | 1806 | 1866 | 1843 | 1843 | Metal binding | Note=Copper;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P12259 | 1806 | 1866 | 1845 | 1845 | Metal binding | Note=Copper;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P12259 | 1806 | 1866 | 1820 | 1820 | Natural variant | ID=VAR_013898;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10391209;Dbxref=dbSNP:rs6026,PMID:10391209 |
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SNVs in the skipped exons for F5 |
| - 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-A39Y-01 | exon_skip_34485 | 169497153 | 169497332 | 169497220 | 169497220 | Frame_Shift_Del | A | - | p.F1849fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_34487 | 169498846 | 169499056 | 169498862 | 169498862 | Frame_Shift_Del | T | - | p.K1806fs |
| STAD | TCGA-BR-8487-01 | exon_skip_34487 | 169498846 | 169499056 | 169499051 | 169499051 | Frame_Shift_Del | T | - | p.D1739fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_34489 | 169509532 | 169512352 | 169509882 | 169509882 | Frame_Shift_Del | A | - | p.F1487fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_34489 | 169509532 | 169512352 | 169510415 | 169510416 | Frame_Shift_Del | GA | - | p.P1305fs |
| UCEC | TCGA-BG-A0MU-01 | exon_skip_34489 | 169509532 | 169512352 | 169510696 | 169510696 | Frame_Shift_Del | G | - | p.T1211fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_34489 | 169509532 | 169512352 | 169510943 | 169510943 | Frame_Shift_Del | T | - | p.T1134fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_34489 | 169509532 | 169512352 | 169511233 | 169511233 | Frame_Shift_Del | T | - | p.K1039fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_34489 | 169509532 | 169512352 | 169511902 | 169511902 | Frame_Shift_Del | G | - | p.P814fs |
| LIHC | TCGA-DD-A3A1-01 | exon_skip_34489 | 169509532 | 169512352 | 169512025 | 169512025 | Frame_Shift_Del | T | - | p.N773fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_34489 | 169509532 | 169512352 | 169512240 | 169512240 | Frame_Shift_Del | A | - | p.F701fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_34489 | 169509532 | 169512352 | 169512307 | 169512307 | Frame_Shift_Del | T | - | p.K679fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_34489 | 169509532 | 169512352 | 169512307 | 169512307 | Frame_Shift_Del | T | - | p.K679fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_34491 | 169551669 | 169551760 | 169551736 | 169551736 | Frame_Shift_Del | A | - | p.F61fs |
| UCEC | TCGA-AP-A0LP-01 | exon_skip_34487 | 169498846 | 169499056 | 169499005 | 169499006 | Frame_Shift_Ins | - | T | p.K1753fs |
| UCEC | TCGA-AP-A0LE-01 | exon_skip_34489 | 169509532 | 169512352 | 169510414 | 169510415 | Frame_Shift_Ins | - | GA | p.P1305fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_34489 | 169509532 | 169512352 | 169510826 | 169510827 | Frame_Shift_Ins | - | G | p.T1168fs |
| STAD | TCGA-CD-A4MI-01 | exon_skip_34489 | 169509532 | 169512352 | 169510827 | 169510828 | Frame_Shift_Ins | - | G | p.P1167fs |
| KIRP | TCGA-G7-6790-01 | exon_skip_34489 | 169509532 | 169512352 | 169510915 | 169510916 | Frame_Shift_Ins | - | TT | p.A1143fs |
| KIRP | TCGA-G7-6790-01 | exon_skip_34489 | 169509532 | 169512352 | 169510915 | 169510916 | Frame_Shift_Ins | - | TT | p.M1138fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_34489 | 169509532 | 169512352 | 169511225 | 169511226 | Frame_Shift_Ins | - | T | p.E1040fs |
| SKCM | TCGA-EB-A299-01 | exon_skip_34482 | 169493039 | 169493142 | 169493087 | 169493087 | Nonsense_Mutation | C | T | p.W1948X |
| SKCM | TCGA-EB-A299-01 | exon_skip_34482 | 169493039 | 169493142 | 169493087 | 169493087 | Nonsense_Mutation | C | T | p.W1953* |
| SARC | TCGA-DX-AB2E-01 | exon_skip_34482 | 169493039 | 169493142 | 169493088 | 169493088 | Nonsense_Mutation | C | T | p.W1948* |
| SARC | TCGA-DX-AB2E-01 | exon_skip_34482 | 169493039 | 169493142 | 169493088 | 169493088 | Nonsense_Mutation | C | T | p.W1953* |
| LUAD | TCGA-67-4679-01 | exon_skip_34482 | 169493039 | 169493142 | 169493096 | 169493096 | Nonsense_Mutation | A | T | p.Y1950* |
| HNSC | TCGA-BA-4076-01 | exon_skip_34489 | 169509532 | 169512352 | 169510646 | 169510646 | Nonsense_Mutation | G | A | p.Q1228* |
| HNSC | TCGA-BA-4076-01 | exon_skip_34489 | 169509532 | 169512352 | 169510646 | 169510646 | Nonsense_Mutation | G | A | p.Q1233* |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_34489 | 169509532 | 169512352 | 169510946 | 169510946 | Nonsense_Mutation | G | A | p.Q1128X |
| SKCM | TCGA-EE-A2MJ-06 | exon_skip_34489 | 169509532 | 169512352 | 169510946 | 169510946 | Nonsense_Mutation | G | A | p.Q1133* |
| LUAD | TCGA-55-6972-01 | exon_skip_34489 | 169509532 | 169512352 | 169510973 | 169510973 | Nonsense_Mutation | G | A | p.Q1119* |
| LUAD | TCGA-55-6972-01 | exon_skip_34489 | 169509532 | 169512352 | 169510973 | 169510973 | Nonsense_Mutation | G | A | p.Q1124* |
| LUAD | TCGA-55-7914-01 | exon_skip_34489 | 169509532 | 169512352 | 169511240 | 169511240 | Nonsense_Mutation | G | A | p.R1030* |
| LUAD | TCGA-55-7914-01 | exon_skip_34489 | 169509532 | 169512352 | 169511240 | 169511240 | Nonsense_Mutation | G | A | p.R1035* |
| LUAD | TCGA-49-6744-01 | exon_skip_34489 | 169509532 | 169512352 | 169511383 | 169511383 | Nonsense_Mutation | C | T | p.W982* |
| LUAD | TCGA-49-6744-01 | exon_skip_34489 | 169509532 | 169512352 | 169511383 | 169511383 | Nonsense_Mutation | C | T | p.W987* |
| LUSC | TCGA-33-4566-01 | exon_skip_34489 | 169509532 | 169512352 | 169511512 | 169511512 | Nonsense_Mutation | G | T | p.S939* |
| COAD | TCGA-AZ-4315-01 | exon_skip_34489 | 169509532 | 169512352 | 169511556 | 169511556 | Nonsense_Mutation | C | T | p.W924X |
| HNSC | TCGA-CR-7371-01 | exon_skip_34489 | 169509532 | 169512352 | 169511663 | 169511663 | Nonsense_Mutation | T | A | p.K894* |
| HNSC | TCGA-CR-7371-01 | exon_skip_34489 | 169509532 | 169512352 | 169511663 | 169511664 | Nonsense_Mutation | TA | AT | p.888_889HK>Q* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_34489 | 169509532 | 169512352 | 169511762 | 169511762 | Nonsense_Mutation | C | A | p.E856X |
| UCS | TCGA-ND-A4WC-01 | exon_skip_34489 | 169509532 | 169512352 | 169511762 | 169511762 | Nonsense_Mutation | C | A | p.E861* |
| SKCM | TCGA-EE-A2MM-06 | exon_skip_34489 | 169509532 | 169512352 | 169512080 | 169512080 | Nonsense_Mutation | C | A | p.E755* |
| GBM | TCGA-06-0210-02 | exon_skip_34489 | 169509532 | 169512352 | 169512354 | 169512354 | Splice_Site | T | G | p.G659_splice |
| LIHC | TCGA-ES-A2HS-01 | exon_skip_34489 | 169509532 | 169512352 | 169512354 | 169512354 | Splice_Site | T | C | . |
| - 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 |
| LOVO_LARGE_INTESTINE | 169497153 | 169497332 | 169497162 | 169497162 | Frame_Shift_Del | G | - | p.L1865fs |
| EN_ENDOMETRIUM | 169509532 | 169512352 | 169510935 | 169510935 | Frame_Shift_Del | G | - | p.P1131fs |
| CORL23_LUNG | 169498846 | 169499056 | 169498849 | 169498850 | Frame_Shift_Ins | - | AA | p.H1806fs |
| KASUMI2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169498846 | 169499056 | 169498861 | 169498862 | Frame_Shift_Ins | - | T | p.S1802fs |
| EN_ENDOMETRIUM | 169498846 | 169499056 | 169499050 | 169499051 | Frame_Shift_Ins | - | T | p.D1739fs |
| HEC251_ENDOMETRIUM | 169509532 | 169512352 | 169511225 | 169511226 | Frame_Shift_Ins | - | T | p.E1035fs |
| MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169512078 | 169512080 | In_Frame_Del | CTC | - | p.E750del |
| OVCAR5_OVARY | 169509532 | 169512352 | 169512078 | 169512080 | In_Frame_Del | CTC | - | p.E750del |
| PL18_PANCREAS | 169509532 | 169512352 | 169512078 | 169512080 | In_Frame_Del | CTC | - | p.E750del |
| NCIH460_LUNG | 169493039 | 169493142 | 169493067 | 169493067 | Missense_Mutation | G | T | p.A1955E |
| TC71_BONE | 169493039 | 169493142 | 169493084 | 169493084 | Missense_Mutation | A | C | p.S1949R |
| COLO679_SKIN | 169497153 | 169497332 | 169497271 | 169497271 | Missense_Mutation | C | G | p.R1827S |
| CORL23_LUNG | 169498846 | 169499056 | 169498854 | 169498854 | Missense_Mutation | T | A | p.E1804V |
| HEC251_ENDOMETRIUM | 169498846 | 169499056 | 169498884 | 169498884 | Missense_Mutation | A | C | p.L1794R |
| MOLP2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169498846 | 169499056 | 169498902 | 169498902 | Missense_Mutation | G | T | p.S1788Y |
| CP67MEL_SKIN | 169498846 | 169499056 | 169498957 | 169498957 | Missense_Mutation | C | T | p.V1770I |
| EW24_BONE | 169509532 | 169512352 | 169509604 | 169509604 | Missense_Mutation | T | C | p.N1575S |
| NCIH250_LUNG | 169509532 | 169512352 | 169509610 | 169509610 | Missense_Mutation | C | A | p.R1573L |
| SNU1040_LARGE_INTESTINE | 169509532 | 169512352 | 169509610 | 169509610 | Missense_Mutation | C | T | p.R1573H |
| HCC1500_BREAST | 169509532 | 169512352 | 169509684 | 169509684 | Missense_Mutation | G | T | p.D1548E |
| MEWO_SKIN | 169509532 | 169512352 | 169509743 | 169509743 | Missense_Mutation | C | T | p.E1529K |
| HEC251_ENDOMETRIUM | 169509532 | 169512352 | 169509886 | 169509886 | Missense_Mutation | G | T | p.S1481Y |
| HUH1_LIVER | 169509532 | 169512352 | 169509907 | 169509907 | Missense_Mutation | A | T | p.L1474H |
| NCIH2286_LUNG | 169509532 | 169512352 | 169509922 | 169509922 | Missense_Mutation | G | T | p.S1469Y |
| OMC1_CERVIX | 169509532 | 169512352 | 169509947 | 169509947 | Missense_Mutation | C | A | p.D1461Y |
| MEWO_SKIN | 169509532 | 169512352 | 169510066 | 169510066 | Missense_Mutation | G | A | p.S1421F |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169510073 | 169510073 | Missense_Mutation | C | A | p.D1419Y |
| EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169510073 | 169510073 | Missense_Mutation | C | A | p.D1419Y |
| HELA_CERVIX | 169509532 | 169512352 | 169510102 | 169510102 | Missense_Mutation | A | C | p.M1409R |
| RH30_SOFT_TISSUE | 169509532 | 169512352 | 169510183 | 169510183 | Missense_Mutation | G | A | p.T1382I |
| SJRH30_SOFT_TISSUE | 169509532 | 169512352 | 169510183 | 169510183 | Missense_Mutation | G | A | p.T1382I |
| HEC251_ENDOMETRIUM | 169509532 | 169512352 | 169510309 | 169510309 | Missense_Mutation | G | T | p.S1340Y |
| DMS153_LUNG | 169509532 | 169512352 | 169510313 | 169510313 | Missense_Mutation | G | T | p.L1339I |
| HCC2450_LUNG | 169509532 | 169512352 | 169510381 | 169510381 | Missense_Mutation | A | G | p.L1316P |
| RKO_LARGE_INTESTINE | 169509532 | 169512352 | 169510382 | 169510382 | Missense_Mutation | G | T | p.L1316I |
| OVSAHO_OVARY | 169509532 | 169512352 | 169510430 | 169510430 | Missense_Mutation | G | T | p.H1300N |
| DMS454_LUNG | 169509532 | 169512352 | 169510480 | 169510480 | Missense_Mutation | G | T | p.T1283K |
| NCIH1339_LUNG | 169509532 | 169512352 | 169510544 | 169510544 | Missense_Mutation | G | T | p.L1262I |
| MFE319_ENDOMETRIUM | 169509532 | 169512352 | 169510601 | 169510601 | Missense_Mutation | C | T | p.D1243N |
| NCIH1793_LUNG | 169509532 | 169512352 | 169510684 | 169510684 | Missense_Mutation | G | T | p.P1215Q |
| MKN1_STOMACH | 169509532 | 169512352 | 169510685 | 169510685 | Missense_Mutation | G | T | p.P1215T |
| CORL321_PLEURA | 169509532 | 169512352 | 169510685 | 169510685 | Missense_Mutation | G | A | p.P1215S |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169510766 | 169510766 | Missense_Mutation | G | A | p.P1188S |
| NCIH2009_LUNG | 169509532 | 169512352 | 169510865 | 169510865 | Missense_Mutation | C | G | p.E1155Q |
| EN_ENDOMETRIUM | 169509532 | 169512352 | 169510960 | 169510960 | Missense_Mutation | G | T | p.P1123Q |
| YD38_UPPER_AERODIGESTIVE_TRACT | 169509532 | 169512352 | 169511045 | 169511045 | Missense_Mutation | C | T | p.A1095T |
| KYSE70_OESOPHAGUS | 169509532 | 169512352 | 169511101 | 169511101 | Missense_Mutation | G | A | p.T1076I |
| CCK81_LARGE_INTESTINE | 169509532 | 169512352 | 169511102 | 169511102 | Missense_Mutation | T | C | p.T1076A |
| SARC9371_BONE | 169509532 | 169512352 | 169511239 | 169511239 | Missense_Mutation | C | T | p.R1030Q |
| SNU719_STOMACH | 169509532 | 169512352 | 169511245 | 169511245 | Missense_Mutation | T | C | p.K1028R |
| HEC108_ENDOMETRIUM | 169509532 | 169512352 | 169511272 | 169511272 | Missense_Mutation | C | G | p.R1019T |
| SUIT2_PANCREAS | 169509532 | 169512352 | 169511280 | 169511281 | Missense_Mutation | TC | CA | p.G1016V |
| SUIT2_PANCREAS | 169509532 | 169512352 | 169511281 | 169511281 | Missense_Mutation | C | A | p.G1016V |
| JSC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169511314 | 169511314 | Missense_Mutation | C | T | p.R1005K |
| YD38_UPPER_AERODIGESTIVE_TRACT | 169509532 | 169512352 | 169511387 | 169511387 | Missense_Mutation | C | T | p.A981T |
| SW1271_LUNG | 169509532 | 169512352 | 169511462 | 169511462 | Missense_Mutation | A | G | p.Y956H |
| NCIH345_LUNG | 169509532 | 169512352 | 169511481 | 169511481 | Missense_Mutation | C | A | p.L949F |
| VMRCLCD_LUNG | 169509532 | 169512352 | 169511532 | 169511532 | Missense_Mutation | T | A | p.L932F |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169511582 | 169511582 | Missense_Mutation | C | T | p.G916S |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169511582 | 169511582 | Missense_Mutation | C | A | p.G916C |
| DU145_PROSTATE | 169509532 | 169512352 | 169511591 | 169511591 | Missense_Mutation | G | T | p.Q913K |
| NCIH1755_LUNG | 169509532 | 169512352 | 169511633 | 169511633 | Missense_Mutation | C | A | p.G899C |
| PACADD137_PANCREAS | 169509532 | 169512352 | 169511648 | 169511648 | Missense_Mutation | G | T | p.L894I |
| TGBC11TKB_STOMACH | 169509532 | 169512352 | 169511659 | 169511659 | Missense_Mutation | A | G | p.V890A |
| KARPAS384_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169509532 | 169512352 | 169511663 | 169511663 | Missense_Mutation | T | C | p.K889E |
| GCT_SOFT_TISSUE | 169509532 | 169512352 | 169511729 | 169511729 | Missense_Mutation | C | T | p.G867R |
| EGI1_BILIARY_TRACT | 169509532 | 169512352 | 169511738 | 169511738 | Missense_Mutation | T | C | p.K864E |
| HEC251_ENDOMETRIUM | 169509532 | 169512352 | 169511792 | 169511792 | Missense_Mutation | C | A | p.G846W |
| RCCJW_KIDNEY | 169509532 | 169512352 | 169511978 | 169511978 | Missense_Mutation | T | A | p.S784C |
| SNU878_LIVER | 169509532 | 169512352 | 169511985 | 169511985 | Missense_Mutation | A | C | p.S781R |
| H4_CENTRAL_NERVOUS_SYSTEM | 169509532 | 169512352 | 169512059 | 169512059 | Missense_Mutation | C | A | p.A757S |
| SW1710_URINARY_TRACT | 169509532 | 169512352 | 169512090 | 169512090 | Missense_Mutation | C | G | p.Q746H |
| EN_ENDOMETRIUM | 169509532 | 169512352 | 169512107 | 169512107 | Missense_Mutation | T | C | p.N741D |
| MRKNU1_BREAST | 169509532 | 169512352 | 169512239 | 169512239 | Missense_Mutation | C | G | p.E697Q |
| EN_ENDOMETRIUM | 169509532 | 169512352 | 169512250 | 169512250 | Missense_Mutation | T | A | p.Y693F |
| NCIH889_LUNG | 169509532 | 169512352 | 169512266 | 169512266 | Missense_Mutation | C | T | p.D688N |
| HEC251_ENDOMETRIUM | 169509532 | 169512352 | 169512325 | 169512325 | Missense_Mutation | G | T | p.S668Y |
| HEC1A_ENDOMETRIUM | 169497153 | 169497332 | 169497180 | 169497180 | Nonsense_Mutation | G | A | p.Q1858* |
| NB17_AUTONOMIC_GANGLIA | 169509532 | 169512352 | 169510439 | 169510439 | Nonsense_Mutation | C | A | p.E1297* |
| NCIH187_LUNG | 169509532 | 169512352 | 169510682 | 169510682 | Nonsense_Mutation | C | A | p.E1216* |
| PECAPJ41CLONED2_UPPER_AERODIGESTIVE_TRACT | 169551669 | 169551760 | 169551669 | 169551669 | Splice_Site | C | G | p.G84R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for F5 |
| 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 F5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for F5 |
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RelatedDrugs for F5 |
| 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 |
| P12259 | DB11300 | Thrombin | Coagulation factor V | biotech | approved|investigational | |
| P12259 | DB13151 | Anti-inhibitor coagulant complex | Coagulation factor V | biotech | approved|investigational | |
| P12259 | DB00055 | Drotrecogin alfa | Coagulation factor V | biotech | approved|investigational|withdrawn |
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RelatedDiseases for F5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| F5 | C0042487 | Venous Thrombosis | 5 | CTD_human |
| F5 | C1861171 | THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (disorder) | 5 | CTD_human;UNIPROT |
| F5 | C0015499 | Factor V Deficiency | 3 | CTD_human;HPO;ORPHANET;UNIPROT |
| F5 | C0040038 | Thromboembolism | 2 | CTD_human |
| F5 | C0040053 | Thrombosis | 2 | CTD_human |
| F5 | C1861172 | Venous Thromboembolism | 2 | CTD_human |
| F5 | C0005779 | Blood Coagulation Disorders | 1 | CTD_human |
| F5 | C0007786 | Brain Ischemia | 1 | CTD_human |
| F5 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| F5 | C0023890 | Liver Cirrhosis | 1 | CTD_human;HPO |
| F5 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| F5 | C0032580 | Adenomatous Polyposis Coli | 1 | CTD_human |
| F5 | C0035328 | Retinal Vein Occlusion | 1 | CTD_human |
| F5 | C0038454 | Cerebrovascular accident | 1 | CTD_human |
| F5 | C0338575 | Sagittal Sinus Thrombosis | 1 | CTD_human |
| F5 | C1412000 | Mesenteric vascular insufficiency | 1 | CTD_human |
| F5 | C2584620 | Thrombophilia, hereditary | 1 | CTD_human |
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