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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 FOXK1 |
Gene summary |
| Gene information | Gene symbol | FOXK1 | Gene ID | 221937 |
| Gene name | forkhead box K1 | |
| Synonyms | FOXK1L | |
| Cytomap | 7p22.1 | |
| Type of gene | protein-coding | |
| Description | forkhead box protein K1MNFmyocyte nuclear factor | |
| Modification date | 20180523 | |
| UniProtAcc | P85037 | |
| Context | PubMed: FOXK1 [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 FOXK1 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 FOXK1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FOXK1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463954 | 7 | 4721939:4722499:4780468:4780654:4794089:4794246 | 4780468:4780654 | ENSG00000164916.9 | ENST00000328914.4 |
| exon_skip_463957 | 7 | 4794867:4795014:4796624:4796818:4798681:4798848 | 4796624:4796818 | ENSG00000164916.9 | ENST00000446823.1,ENST00000328914.4 |
| exon_skip_463958 | 7 | 4798681:4798848:4798941:4799226:4800694:4800919 | 4798941:4799226 | ENSG00000164916.9 | ENST00000446823.1,ENST00000328914.4 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FOXK1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_463954 | 7 | 4721939:4722499:4780468:4780654:4794089:4794246 | 4780468:4780654 | ENSG00000164916.9 | ENST00000328914.4 |
| exon_skip_463957 | 7 | 4794867:4795014:4796624:4796818:4798681:4798848 | 4796624:4796818 | ENSG00000164916.9 | ENST00000446823.1,ENST00000328914.4 |
| exon_skip_463958 | 7 | 4798681:4798848:4798941:4799226:4800694:4800919 | 4798941:4799226 | ENSG00000164916.9 | ENST00000446823.1,ENST00000328914.4 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FOXK1 |
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 |
| ENST00000328914 | 4796624 | 4796818 | Frame-shift |
| ENST00000328914 | 4780468 | 4780654 | In-frame |
| ENST00000328914 | 4798941 | 4799226 | 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 |
| ENST00000328914 | 4796624 | 4796818 | Frame-shift |
| ENST00000328914 | 4780468 | 4780654 | In-frame |
| ENST00000328914 | 4798941 | 4799226 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FOXK1 |
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 |
| ENST00000328914 | 11198 | 733 | 4780468 | 4780654 | 561 | 746 | 187 | 248 |
| ENST00000328914 | 11198 | 733 | 4798941 | 4799226 | 1412 | 1696 | 470 | 565 |
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 |
| ENST00000328914 | 11198 | 733 | 4780468 | 4780654 | 561 | 746 | 187 | 248 |
| ENST00000328914 | 11198 | 733 | 4798941 | 4799226 | 1412 | 1696 | 470 | 565 |
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 |
| P85037 | 187 | 248 | 164 | 187 | Alternative sequence | ID=VSP_052240;Note=In isoform 2. GKNGVFVDGAFQRRGAPALQLPKQ->MAYCLGVNFVPSRFCYQLHRLLLR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15289879,ECO:0000303|PubMed:15489334;Dbxref=PMID:15289879,PMID:15489334 |
| P85037 | 187 | 248 | 2 | 733 | Chain | ID=PRO_0000261667;Note=Forkhead box protein K1 |
| P85037 | 187 | 248 | 191 | 191 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| P85037 | 187 | 248 | 213 | 213 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| P85037 | 187 | 248 | 223 | 223 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:21406692,PMID |
| P85037 | 187 | 248 | 239 | 239 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P85037 | 187 | 248 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P85037 | 187 | 248 | 245 | 245 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 247 | 247 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 95 | 420 | Region | Note=Required for interaction with FOXO4 and MEF2C;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 217 | 217 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P85037 | 187 | 248 | 232 | 232 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P85037 | 470 | 565 | 2 | 733 | Chain | ID=PRO_0000261667;Note=Forkhead box protein K1 |
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 |
| P85037 | 187 | 248 | 164 | 187 | Alternative sequence | ID=VSP_052240;Note=In isoform 2. GKNGVFVDGAFQRRGAPALQLPKQ->MAYCLGVNFVPSRFCYQLHRLLLR;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15289879,ECO:0000303|PubMed:15489334;Dbxref=PMID:15289879,PMID:15489334 |
| P85037 | 187 | 248 | 2 | 733 | Chain | ID=PRO_0000261667;Note=Forkhead box protein K1 |
| P85037 | 187 | 248 | 191 | 191 | Modified residue | Note=Omega-N-methylarginine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24129315;Dbxref=PMID:24129315 |
| P85037 | 187 | 248 | 213 | 213 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163,ECO:0000244|PubMed:24275569;Dbxref=PMID:1 |
| P85037 | 187 | 248 | 223 | 223 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:17081983,PMID:18669648,PMID:21406692,PMID |
| P85037 | 187 | 248 | 239 | 239 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P85037 | 187 | 248 | 243 | 243 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P85037 | 187 | 248 | 245 | 245 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 247 | 247 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 95 | 420 | Region | Note=Required for interaction with FOXO4 and MEF2C;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P42128 |
| P85037 | 187 | 248 | 217 | 217 | Sequence conflict | Note=P->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P85037 | 187 | 248 | 232 | 232 | Sequence conflict | Note=P->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P85037 | 470 | 565 | 2 | 733 | Chain | ID=PRO_0000261667;Note=Forkhead box protein K1 |
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SNVs in the skipped exons for FOXK1 |
- 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. |
FOXK1_HNSC_exon_skip_463957_psi_boxplot.png![]() |
FOXK1_STAD_exon_skip_463957_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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_463954 | 4780469 | 4780654 | 4780546 | 4780546 | Frame_Shift_Del | C | - | p.S213fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_463954 | 4780469 | 4780654 | 4780576 | 4780576 | Frame_Shift_Del | C | - | p.S223fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_463954 | 4780469 | 4780654 | 4780576 | 4780576 | Frame_Shift_Del | C | - | p.S223fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_463958 | 4798942 | 4799226 | 4799107 | 4799107 | Frame_Shift_Del | G | - | p.R526fs |
| LUAD | TCGA-17-Z023-01 | exon_skip_463954 | 4780469 | 4780654 | 4780475 | 4780476 | Frame_Shift_Ins | - | T | p.P190fs |
| STAD | TCGA-BR-4184-01 | exon_skip_463957 | 4796625 | 4796818 | 4796712 | 4796712 | Nonsense_Mutation | C | T | p.R380* |
| STAD | TCGA-VQ-AA64-01 | exon_skip_463957 | 4796625 | 4796818 | 4796712 | 4796712 | Nonsense_Mutation | C | T | p.R380* |
| STAD | TCGA-VQ-AA64-01 | exon_skip_463957 | 4796625 | 4796818 | 4796712 | 4796712 | Nonsense_Mutation | C | T | p.R380X |
| HNSC | TCGA-CR-7388-01 | exon_skip_463957 | 4796625 | 4796818 | 4796623 | 4796623 | Splice_Site | A | G | p.N351_splice |
- Depth of coverage in the three exons composing exon skipping event |
- 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 |
| NCIH650_LUNG | 4796625 | 4796818 | 4796635 | 4796635 | Frame_Shift_Del | G | - | p.R354fs |
| HEC108_ENDOMETRIUM | 4798942 | 4799226 | 4799168 | 4799168 | Frame_Shift_Del | G | - | p.A546fs |
| PACADD137_PANCREAS | 4798942 | 4799226 | 4799167 | 4799168 | Frame_Shift_Ins | - | G | p.AG546fs |
| NCIH2085_LUNG | 4780469 | 4780654 | 4780507 | 4780508 | In_Frame_Ins | - | GTTCACGTC | p.201_202insTSF |
| LS180_LARGE_INTESTINE | 4780469 | 4780654 | 4780472 | 4780472 | Missense_Mutation | T | G | p.C188W |
| HMY1_SKIN | 4780469 | 4780654 | 4780539 | 4780539 | Missense_Mutation | C | T | p.P211S |
| MERO41_LUNG | 4780469 | 4780654 | 4780546 | 4780546 | Missense_Mutation | C | T | p.S213F |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4780469 | 4780654 | 4780549 | 4780549 | Missense_Mutation | C | T | p.P214L |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 4780469 | 4780654 | 4780549 | 4780549 | Missense_Mutation | C | T | p.P214L |
| SEKI_SKIN | 4780469 | 4780654 | 4780566 | 4780566 | Missense_Mutation | C | T | p.P220S |
| MDAPCA2B_PROSTATE | 4780469 | 4780654 | 4780642 | 4780642 | Missense_Mutation | C | T | p.T245M |
| IGROV1_OVARY | 4796625 | 4796818 | 4796634 | 4796634 | Missense_Mutation | C | T | p.R354W |
| HCC1195_LUNG | 4798942 | 4799226 | 4798981 | 4798981 | Missense_Mutation | C | A | p.P484H |
| LOVO_LARGE_INTESTINE | 4798942 | 4799226 | 4798987 | 4798987 | Missense_Mutation | G | A | p.R486Q |
| SNUC4_LARGE_INTESTINE | 4798942 | 4799226 | 4799028 | 4799028 | Missense_Mutation | G | A | p.A500T |
| IPC298_SKIN | 4798942 | 4799226 | 4799065 | 4799065 | Missense_Mutation | C | T | p.A512V |
| LOVO_LARGE_INTESTINE | 4798942 | 4799226 | 4799131 | 4799131 | Missense_Mutation | C | T | p.S534L |
| SNU719_STOMACH | 4798942 | 4799226 | 4799139 | 4799139 | Missense_Mutation | G | A | p.G537R |
| RERFLCMS_LUNG | 4798942 | 4799226 | 4799185 | 4799185 | Missense_Mutation | C | T | p.A552V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FOXK1 |
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 FOXK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FOXK1 |
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RelatedDrugs for FOXK1 |
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 FOXK1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |