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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 PFKL |
 Gene summary |
| Gene information | Gene symbol | PFKL | Gene ID | 5211 |
| Gene name | phosphofructokinase, liver type | |
| Synonyms | ATP-PFK|PFK-B|PFK-L | |
| Cytomap | 21q22.3 | |
| Type of gene | protein-coding | |
| Description | ATP-dependent 6-phosphofructokinase, liver type6-phosphofructokinase type B6-phosphofructokinase, liver typeliver-type 1-phosphofructokinasephosphofructo-1-kinase isozyme Bphosphohexokinase | |
| Modification date | 20180523 | |
| UniProtAcc | P17858 | |
| Context | PubMed: PFKL [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 |
| PFKL | GO:0006002 | fructose 6-phosphate metabolic process | 6444532|6444721 |
| PFKL | GO:0006096 | glycolytic process | 6227635|6444532|22923583 |
| PFKL | GO:0009749 | response to glucose | 22923583 |
| PFKL | GO:0030388 | fructose 1,6-bisphosphate metabolic process | 22923583 |
| PFKL | GO:0051259 | protein complex oligomerization | 6444721 |
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Exon skipping events across known transcript of Ensembl for PFKL 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 PFKL |
| 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 PFKL |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_360536 | 21 | 45719978:45720073:45724157:45724338:45726563:45726637 | 45724157:45724338 | ENSG00000141959.12 | ENST00000496824.1 |
| exon_skip_360540 | 21 | 45719978:45720073:45726563:45726637:45730888:45730966 | 45726563:45726637 | ENSG00000141959.12 | ENST00000466134.1 |
| exon_skip_360557 | 21 | 45725210:45725300:45725682:45725818:45726563:45726637 | 45725682:45725818 | ENSG00000141959.12 | ENST00000397961.2,ENST00000403390.1 |
| exon_skip_360566 | 21 | 45726563:45726637:45730888:45730966:45731987:45732120 | 45730888:45730966 | ENSG00000141959.12 | ENST00000466134.1,ENST00000397961.2,ENST00000349048.4,ENST00000403390.1,ENST00000491298.1,ENST00000496824.1 |
| exon_skip_360579 | 21 | 45730888:45730966:45731987:45732177:45732860:45733026 | 45731987:45732177 | ENSG00000141959.12 | ENST00000466134.1,ENST00000397961.2,ENST00000349048.4,ENST00000403390.1,ENST00000491298.1,ENST00000496824.1 |
| exon_skip_360585 | 21 | 45733520:45733565:45733795:45733904:45736126:45736222 | 45733795:45733904 | ENSG00000141959.12 | ENST00000397961.2,ENST00000349048.4,ENST00000403390.1,ENST00000496824.1 |
| exon_skip_360611 | 21 | 45743648:45743801:45744373:45744538:45744738:45744800 | 45744373:45744538 | ENSG00000141959.12 | ENST00000466134.1,ENST00000397961.2,ENST00000460521.1,ENST00000349048.4,ENST00000495274.1,ENST00000467315.1,ENST00000403390.1,ENST00000498841.1,ENST00000474114.1 |
| exon_skip_360618 | 21 | 45744738:45744800:45745035:45745147:45745843:45745943 | 45745035:45745147 | ENSG00000141959.12 | ENST00000397961.2,ENST00000460521.1,ENST00000349048.4,ENST00000467315.1,ENST00000403390.1 |
| exon_skip_360632 | 21 | 45745035:45745147:45745614:45745943:45746041:45746147 | 45745614:45745943 | ENSG00000141959.12 | ENST00000466134.1 |
| exon_skip_360635 | 21 | 45745035:45745147:45745843:45745943:45746041:45746147 | 45745843:45745943 | ENSG00000141959.12 | ENST00000397961.2,ENST00000460521.1,ENST00000349048.4,ENST00000467315.1,ENST00000403390.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PFKL |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_360536 | 21 | 45719978:45720073:45724157:45724338:45726563:45726637 | 45724157:45724338 | ENSG00000141959.12 | ENST00000496824.1 |
| exon_skip_360540 | 21 | 45719978:45720073:45726563:45726637:45730888:45730966 | 45726563:45726637 | ENSG00000141959.12 | ENST00000466134.1 |
| exon_skip_360557 | 21 | 45725210:45725300:45725682:45725818:45726563:45726637 | 45725682:45725818 | ENSG00000141959.12 | ENST00000397961.2,ENST00000403390.1 |
| exon_skip_360566 | 21 | 45726563:45726637:45730888:45730966:45731987:45732120 | 45730888:45730966 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000496824.1,ENST00000466134.1,ENST00000491298.1,ENST00000403390.1 |
| exon_skip_360579 | 21 | 45730888:45730966:45731987:45732177:45732860:45733026 | 45731987:45732177 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000496824.1,ENST00000466134.1,ENST00000491298.1,ENST00000403390.1 |
| exon_skip_360585 | 21 | 45733520:45733565:45733795:45733904:45736126:45736222 | 45733795:45733904 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000496824.1,ENST00000403390.1 |
| exon_skip_360611 | 21 | 45743648:45743801:45744373:45744538:45744738:45744800 | 45744373:45744538 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000466134.1,ENST00000403390.1,ENST00000474114.1,ENST00000498841.1,ENST00000467315.1,ENST00000460521.1,ENST00000495274.1 |
| exon_skip_360618 | 21 | 45744738:45744800:45745035:45745147:45745843:45745943 | 45745035:45745147 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000403390.1,ENST00000467315.1,ENST00000460521.1 |
| exon_skip_360632 | 21 | 45745035:45745147:45745614:45745943:45746041:45746147 | 45745614:45745943 | ENSG00000141959.12 | ENST00000466134.1 |
| exon_skip_360635 | 21 | 45745035:45745147:45745843:45745943:45746041:45746147 | 45745843:45745943 | ENSG00000141959.12 | ENST00000349048.4,ENST00000397961.2,ENST00000403390.1,ENST00000467315.1,ENST00000460521.1 |
| 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 PFKL |
| 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 |
| ENST00000349048 | 45731987 | 45732177 | Frame-shift |
| ENST00000349048 | 45733795 | 45733904 | Frame-shift |
| ENST00000349048 | 45745035 | 45745147 | Frame-shift |
| ENST00000349048 | 45745843 | 45745943 | Frame-shift |
| ENST00000349048 | 45730888 | 45730966 | In-frame |
| ENST00000349048 | 45744373 | 45744538 | 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 |
| ENST00000349048 | 45731987 | 45732177 | Frame-shift |
| ENST00000349048 | 45733795 | 45733904 | Frame-shift |
| ENST00000349048 | 45745035 | 45745147 | Frame-shift |
| ENST00000349048 | 45745843 | 45745943 | Frame-shift |
| ENST00000349048 | 45730888 | 45730966 | In-frame |
| ENST00000349048 | 45744373 | 45744538 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PFKL |
| 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 |
| ENST00000349048 | 2929 | 780 | 45730888 | 45730966 | 215 | 292 | 53 | 79 |
| ENST00000349048 | 2929 | 780 | 45744373 | 45744538 | 1706 | 1870 | 550 | 605 |
| 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 |
| ENST00000349048 | 2929 | 780 | 45730888 | 45730966 | 215 | 292 | 53 | 79 |
| ENST00000349048 | 2929 | 780 | 45744373 | 45744538 | 1706 | 1870 | 550 | 605 |
| 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 |
| P17858 | 53 | 79 | 2 | 780 | Chain | ID=PRO_0000112021;Note=ATP-dependent 6-phosphofructokinase%2C liver type |
| P17858 | 53 | 79 | 2 | 390 | Region | Note=N-terminal catalytic PFK domain 1 |
| P17858 | 550 | 605 | 565 | 565 | Binding site | Note=Allosteric activator fructose 2%2C6-bisphosphate%3B shared with dimeric partner;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184 |
| P17858 | 550 | 605 | 2 | 780 | Chain | ID=PRO_0000112021;Note=ATP-dependent 6-phosphofructokinase%2C liver type |
| P17858 | 550 | 605 | 401 | 780 | Region | Note=C-terminal regulatory PFK domain 2 |
| P17858 | 550 | 605 | 572 | 574 | Region | Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184 |
| 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 |
| P17858 | 53 | 79 | 2 | 780 | Chain | ID=PRO_0000112021;Note=ATP-dependent 6-phosphofructokinase%2C liver type |
| P17858 | 53 | 79 | 2 | 390 | Region | Note=N-terminal catalytic PFK domain 1 |
| P17858 | 550 | 605 | 565 | 565 | Binding site | Note=Allosteric activator fructose 2%2C6-bisphosphate%3B shared with dimeric partner;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184 |
| P17858 | 550 | 605 | 2 | 780 | Chain | ID=PRO_0000112021;Note=ATP-dependent 6-phosphofructokinase%2C liver type |
| P17858 | 550 | 605 | 401 | 780 | Region | Note=C-terminal regulatory PFK domain 2 |
| P17858 | 550 | 605 | 572 | 574 | Region | Note=Allosteric activator fructose 2%2C6-bisphosphate binding;Ontology_term=ECO:0000255;evidence=ECO:0000255|HAMAP-Rule:MF_03184 |
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SNVs in the skipped exons for PFKL |
| - 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. |
PFKL_HNSC_exon_skip_360566_psi_boxplot.png |
PFKL_LGG_exon_skip_360579_psi_boxplot.png |
PFKL_SKCM_exon_skip_360579_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 |
| LUAD | TCGA-99-7458-01 | exon_skip_360566 | 45730889 | 45730966 | 45730904 | 45730904 | Frame_Shift_Del | G | - | p.V106fs |
| LUAD | TCGA-99-7458-01 | exon_skip_360566 | 45730889 | 45730966 | 45730904 | 45730904 | Frame_Shift_Del | G | - | p.V59fs |
| STAD | TCGA-BR-8487-01 | exon_skip_360611 | 45744374 | 45744538 | 45744439 | 45744439 | Frame_Shift_Del | G | - | p.M572fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_360611 | 45744374 | 45744538 | 45744457 | 45744457 | Frame_Shift_Del | C | - | p.Y625fs |
| UCS | TCGA-NA-A4R1-01 | exon_skip_360585 | 45733796 | 45733904 | 45733884 | 45733885 | Frame_Shift_Ins | - | TG | p.M243fs |
| UCS | TCGA-NA-A4R1-01 | exon_skip_360585 | 45733796 | 45733904 | 45733884 | 45733885 | Frame_Shift_Ins | - | TG | p.V290fs |
| BLCA | TCGA-4Z-AA7M-01 | exon_skip_360557 | 45725683 | 45725818 | 45725780 | 45725780 | Nonsense_Mutation | C | G | p.S63* |
| SKCM | TCGA-EE-A2MI-06 | exon_skip_360579 | 45731988 | 45732177 | 45732069 | 45732069 | Nonsense_Mutation | C | T | p.Q154* |
| LGG | TCGA-DU-A7TJ-01 | exon_skip_360579 | 45731988 | 45732177 | 45732145 | 45732145 | Nonsense_Mutation | G | A | p.W179* |
| HNSC | TCGA-CV-7407-01 | exon_skip_360566 | 45730889 | 45730966 | 45730967 | 45730967 | Splice_Site | G | T | p.L79_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-DU-A7TJ-01 |
| Cancer type: LGG | |
| ESID: exon_skip_360579 | |
| Skipped exon start: 45731988 | |
| Skipped exon end: 45732177 | |
| Mutation start: 45732145 | |
| Mutation end: 45732145 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.W179* | |
exon_skip_360579_LGG_TCGA-DU-A7TJ-01.png | |
 | Sample: TCGA-CV-7407-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_360566 | |
| Skipped exon start: 45730889 | |
| Skipped exon end: 45730966 | |
| Mutation start: 45730967 | |
| Mutation end: 45730967 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.L79_splice | |
exon_skip_326437_HNSC_TCGA-CV-7407-01.png | |
exon_skip_360566_HNSC_TCGA-CV-7407-01.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 |
| SF172_CENTRAL_NERVOUS_SYSTEM | 45745036 | 45745147 | 45745066 | 45745066 | Frame_Shift_Del | G | - | p.T636fs |
| SNU175_LARGE_INTESTINE | 45726564 | 45726637 | 45726581 | 45726581 | Missense_Mutation | C | T | p.R35W |
| NCIH1930_LUNG | 45726564 | 45726637 | 45726594 | 45726594 | Missense_Mutation | G | A | p.R39H |
| MALME3M_SKIN | 45730889 | 45730966 | 45730926 | 45730926 | Missense_Mutation | A | G | p.K66R |
| NCIH810_LUNG | 45730889 | 45730966 | 45730928 | 45730928 | Missense_Mutation | C | A | p.Q67K |
| HEC108_ENDOMETRIUM | 45730889 | 45730966 | 45730946 | 45730946 | Missense_Mutation | G | A | p.V73I |
| HCT15_LARGE_INTESTINE | 45731988 | 45732177 | 45732009 | 45732009 | Missense_Mutation | G | A | p.A87T |
| HEC108_ENDOMETRIUM | 45731988 | 45732177 | 45732106 | 45732106 | Missense_Mutation | A | G | p.D119G |
| SISO_CERVIX | 45731988 | 45732177 | 45732135 | 45732135 | Missense_Mutation | C | T | p.R129C |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45731988 | 45732177 | 45732135 | 45732135 | Missense_Mutation | C | T | p.R129C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45744374 | 45744538 | 45744384 | 45744384 | Missense_Mutation | G | A | p.R554H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45744374 | 45744538 | 45744413 | 45744413 | Missense_Mutation | C | T | p.R564C |
| SNU1040_LARGE_INTESTINE | 45744374 | 45744538 | 45744428 | 45744428 | Missense_Mutation | G | A | p.V569M |
| NCIBL128_MATCHED_NORMAL_TISSUE | 45744374 | 45744538 | 45744428 | 45744428 | Missense_Mutation | G | A | p.V569M |
| SNU175_LARGE_INTESTINE | 45744374 | 45744538 | 45744494 | 45744494 | Missense_Mutation | G | A | p.A591T |
| ABC1_LUNG | 45744374 | 45744538 | 45744527 | 45744527 | Missense_Mutation | C | T | p.H602Y |
| SNU1040_LARGE_INTESTINE | 45745036 | 45745147 | 45745128 | 45745128 | Missense_Mutation | T | C | p.V657A |
| RERFLCFM_LUNG | 45745844 | 45745943 | 45745868 | 45745868 | Missense_Mutation | C | T | p.R672W |
| RERFLCFM_LUNG | 45745615 | 45745943 | 45745868 | 45745868 | Missense_Mutation | C | T | p.R672W |
| SISO_CERVIX | 45745844 | 45745943 | 45745923 | 45745923 | Missense_Mutation | T | C | p.L690P |
| SISO_CERVIX | 45745615 | 45745943 | 45745923 | 45745923 | Missense_Mutation | T | C | p.L690P |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45745844 | 45745943 | 45745923 | 45745923 | Missense_Mutation | T | C | p.L690P |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45745615 | 45745943 | 45745923 | 45745923 | Missense_Mutation | T | C | p.L690P |
| DANG_PANCREAS | 45745844 | 45745943 | 45745928 | 45745928 | Missense_Mutation | G | A | p.E692K |
| DANG_PANCREAS | 45745615 | 45745943 | 45745928 | 45745928 | Missense_Mutation | G | A | p.E692K |
| SU8686_PANCREAS | 45745844 | 45745943 | 45745928 | 45745928 | Missense_Mutation | G | A | p.E692K |
| SU8686_PANCREAS | 45745615 | 45745943 | 45745928 | 45745928 | Missense_Mutation | G | A | p.E692K |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PFKL |
| 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 PFKL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PFKL |
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RelatedDrugs for PFKL |
| 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 PFKL |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PFKL | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| PFKL | C0525045 | Mood Disorders | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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