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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 PKM |
 Gene summary |
| Gene information | Gene symbol | PKM | Gene ID | 5315 |
| Gene name | pyruvate kinase M1/2 | |
| Synonyms | CTHBP|HEL-S-30|OIP3|PK3|PKM2|TCB|THBP1 | |
| Cytomap | 15q23 | |
| Type of gene | protein-coding | |
| Description | pyruvate kinase PKMOIP-3OPA-interacting protein 3PK, muscle typecytosolic thyroid hormone-binding proteinepididymis secretory protein Li 30p58pyruvate kinase 2/3pyruvate kinase isozymes M1/M2pyruvate kinase muscle isozymepyruvate kinase, muscle | |
| Modification date | 20180527 | |
| UniProtAcc | P14618 | |
| Context | PubMed: PKM [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 |
| PKM | GO:0012501 | programmed cell death | 17308100 |
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Exon skipping events across known transcript of Ensembl for PKM 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 PKM |
| 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 PKM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_128920 | 15 | 72491969:72492097:72492814:72492996:72494794:72494961 | 72492814:72492996 | ENSG00000067225.13 | ENST00000449901.2,ENST00000335181.5,ENST00000567118.1 |
| exon_skip_128935 | 15 | 72492848:72492996:72494794:72494961:72499068:72499131 | 72494794:72494961 | ENSG00000067225.13 | ENST00000449901.2,ENST00000335181.5,ENST00000567118.1 |
| exon_skip_128938 | 15 | 72492848:72492996:72495362:72495529:72499068:72499131 | 72495362:72495529 | ENSG00000067225.13 | ENST00000568883.1,ENST00000389093.3,ENST00000568459.1,ENST00000565154.1,ENST00000561609.1,ENST00000319622.6,ENST00000565184.1 |
| exon_skip_128942 | 15 | 72495362:72495529:72499068:72499221:72499467:72499508 | 72499068:72499221 | ENSG00000067225.13 | ENST00000568883.1,ENST00000389093.3,ENST00000568459.1,ENST00000565154.1,ENST00000561609.1,ENST00000319622.6,ENST00000565184.1 |
| exon_skip_128945 | 15 | 72502123:72502200:72502687:72502819:72509749:72509792 | 72502687:72502819 | ENSG00000067225.13 | ENST00000567087.1,ENST00000564178.1,ENST00000569857.1,ENST00000389093.3,ENST00000562997.1,ENST00000568459.1,ENST00000565154.1,ENST00000561609.1,ENST00000319622.6,ENST00000562784.1,ENST00000335181.5,ENST00000565184.1 |
| exon_skip_128947 | 15 | 72502687:72502819:72509749:72509841:72511284:72511372 | 72509749:72509841 | ENSG00000067225.13 | ENST00000567087.1,ENST00000564276.1,ENST00000564178.1,ENST00000569857.1,ENST00000389093.3,ENST00000562997.1,ENST00000568459.1,ENST00000565154.1,ENST00000561609.1,ENST00000319622.6,ENST00000335181.5,ENST00000565184.1 |
| exon_skip_128952 | 15 | 72511435:72511451:72513508:72513625:72523236:72523454 | 72513508:72513625 | ENSG00000067225.13 | ENST00000565154.1 |
| exon_skip_128954 | 15 | 72511435:72511451:72513508:72513625:72523456:72523531 | 72513508:72513625 | ENSG00000067225.13 | ENST00000449901.2,ENST00000567118.1 |
| exon_skip_128962 | 15 | 72511435:72511451:72523664:72523732:72523939:72524021 | 72523664:72523732 | ENSG00000067225.13 | ENST00000569050.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PKM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_128920 | 15 | 72491969:72492097:72492814:72492996:72494794:72494961 | 72492814:72492996 | ENSG00000067225.13 | ENST00000335181.5,ENST00000567118.1,ENST00000449901.2 |
| exon_skip_128935 | 15 | 72492848:72492996:72494794:72494961:72499068:72499131 | 72494794:72494961 | ENSG00000067225.13 | ENST00000335181.5,ENST00000567118.1,ENST00000449901.2 |
| exon_skip_128938 | 15 | 72492848:72492996:72495362:72495529:72499068:72499131 | 72495362:72495529 | ENSG00000067225.13 | ENST00000319622.6,ENST00000565184.1,ENST00000568883.1,ENST00000389093.3,ENST00000565154.1,ENST00000568459.1,ENST00000561609.1 |
| exon_skip_128942 | 15 | 72495362:72495529:72499068:72499221:72499467:72499508 | 72499068:72499221 | ENSG00000067225.13 | ENST00000319622.6,ENST00000565184.1,ENST00000568883.1,ENST00000389093.3,ENST00000565154.1,ENST00000568459.1,ENST00000561609.1 |
| exon_skip_128945 | 15 | 72502123:72502200:72502687:72502819:72509749:72509792 | 72502687:72502819 | ENSG00000067225.13 | ENST00000319622.6,ENST00000565184.1,ENST00000335181.5,ENST00000389093.3,ENST00000565154.1,ENST00000568459.1,ENST00000561609.1,ENST00000569857.1,ENST00000562784.1,ENST00000564178.1,ENST00000562997.1,ENST00000567087.1 |
| exon_skip_128947 | 15 | 72502687:72502819:72509749:72509841:72511284:72511372 | 72509749:72509841 | ENSG00000067225.13 | ENST00000319622.6,ENST00000565184.1,ENST00000335181.5,ENST00000389093.3,ENST00000565154.1,ENST00000568459.1,ENST00000561609.1,ENST00000569857.1,ENST00000564178.1,ENST00000562997.1,ENST00000567087.1,ENST00000564276.1 |
| exon_skip_128952 | 15 | 72511435:72511451:72513508:72513625:72523236:72523454 | 72513508:72513625 | ENSG00000067225.13 | ENST00000565154.1 |
| exon_skip_128954 | 15 | 72511435:72511451:72513508:72513625:72523456:72523531 | 72513508:72513625 | ENSG00000067225.13 | ENST00000567118.1,ENST00000449901.2 |
| exon_skip_128962 | 15 | 72511435:72511451:72523664:72523732:72523939:72524021 | 72523664:72523732 | ENSG00000067225.13 | ENST00000569050.1 |
| 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 PKM |
| 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 |
| ENST00000335181 | 72492814 | 72492996 | Frame-shift |
| ENST00000335181 | 72494794 | 72494961 | Frame-shift |
| ENST00000335181 | 72509749 | 72509841 | Frame-shift |
| ENST00000335181 | 72502687 | 72502819 | 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 |
| ENST00000335181 | 72492814 | 72492996 | Frame-shift |
| ENST00000335181 | 72494794 | 72494961 | Frame-shift |
| ENST00000335181 | 72509749 | 72509841 | Frame-shift |
| ENST00000335181 | 72502687 | 72502819 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PKM |
| 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 |
| ENST00000335181 | 2335 | 531 | 72502687 | 72502819 | 351 | 482 | 82 | 126 |
| 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 |
| ENST00000335181 | 2335 | 531 | 72502687 | 72502819 | 351 | 482 | 82 | 126 |
| 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 PKM |
| - 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_128945 | 72502688 | 72502819 | 72502719 | 72502719 | Frame_Shift_Del | C | - | p.G116fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_128945 | 72502688 | 72502819 | 72502772 | 72502772 | Frame_Shift_Del | A | - | p.F98fs |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_128920 | 72492815 | 72492996 | 72492920 | 72492920 | Nonsense_Mutation | G | A | p.Q462* |
| - 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 |
| NCIH1623_LUNG | 72499069 | 72499221 | 72499211 | 72499211 | Frame_Shift_Del | C | - | p.S333fs |
| HEC108_ENDOMETRIUM | 72492815 | 72492996 | 72492839 | 72492839 | Missense_Mutation | G | A | p.R489W |
| LS180_LARGE_INTESTINE | 72492815 | 72492996 | 72492910 | 72492910 | Missense_Mutation | A | G | p.L465P |
| KURAMOCHI_OVARY | 72494795 | 72494961 | 72494814 | 72494814 | Missense_Mutation | C | T | p.V430I |
| TE617T_SOFT_TISSUE | 72494795 | 72494961 | 72494853 | 72494853 | Missense_Mutation | C | T | p.V417M |
| TOV21G_OVARY | 72494795 | 72494961 | 72494865 | 72494865 | Missense_Mutation | C | T | p.A413T |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72494795 | 72494961 | 72494868 | 72494869 | Missense_Mutation | TG | CA | p.T412A |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72494795 | 72494961 | 72494897 | 72494897 | Missense_Mutation | G | A | p.A402V |
| LS411N_LARGE_INTESTINE | 72502688 | 72502819 | 72502704 | 72502704 | Missense_Mutation | G | C | p.T121S |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 72502688 | 72502819 | 72502792 | 72502792 | Missense_Mutation | G | A | p.R92C |
| NCIH1623_LUNG | 72502688 | 72502819 | 72502812 | 72502812 | Missense_Mutation | G | A | p.A85V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PKM |
| 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 PKM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PKM |
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RelatedDrugs for PKM |
| 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 PKM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PKM | C0027626 | Neoplasm Invasiveness | 2 | CTD_human |
| PKM | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| PKM | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| PKM | C0029456 | Osteoporosis | 1 | CTD_human |
| PKM | C2239176 | Liver carcinoma | 1 | CTD_human |
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