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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 FPGS |
 Gene summary |
| Gene information | Gene symbol | FPGS | Gene ID | 2356 |
| Gene name | folylpolyglutamate synthase | |
| Synonyms | - | |
| Cytomap | 9q34.11 | |
| Type of gene | protein-coding | |
| Description | folylpolyglutamate synthase, mitochondrialfolylpoly-gamma-glutamate synthetasetetrahydrofolate synthasetetrahydrofolylpolyglutamate synthase | |
| Modification date | 20180523 | |
| UniProtAcc | Q05932 | |
| Context | PubMed: FPGS [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 |
| FPGS | GO:0006536 | glutamate metabolic process | 3619447 |
| FPGS | GO:0006760 | folic acid-containing compound metabolic process | 3619447 |
| FPGS | GO:0046901 | tetrahydrofolylpolyglutamate biosynthetic process | 3619447 |
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Exon skipping events across known transcript of Ensembl for FPGS 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 FPGS |
| 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 FPGS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499365 | 9 | 130565210:130565341:130566563:130566692:130566777:130566831 | 130566563:130566692 | ENSG00000136877.10 | ENST00000460181.1,ENST00000393706.2,ENST00000488307.1,ENST00000373247.2,ENST00000373228.1,ENST00000475765.1,ENST00000373245.1 |
| exon_skip_499374 | 9 | 130565602:130565683:130566563:130566692:130566777:130566831 | 130566563:130566692 | ENSG00000136877.10 | ENST00000431857.1,ENST00000423577.1,ENST00000373225.3 |
| exon_skip_499377 | 9 | 130566564:130566692:130566777:130566831:130566914:130566979 | 130566777:130566831 | ENSG00000136877.10 | ENST00000431857.1,ENST00000423577.1,ENST00000460181.1,ENST00000393706.2,ENST00000479375.2,ENST00000496586.1,ENST00000488307.1,ENST00000373247.2,ENST00000373228.1,ENST00000373225.3,ENST00000469310.1,ENST00000475765.1,ENST00000479147.2,ENST00000373245.1 |
| exon_skip_499382 | 9 | 130566914:130566979:130569251:130569366:130569487:130569558 | 130569251:130569366 | ENSG00000136877.10 | ENST00000431857.1,ENST00000496586.1,ENST00000488307.1,ENST00000373247.2,ENST00000373228.1,ENST00000373225.3,ENST00000475765.1,ENST00000479147.2,ENST00000373245.1 |
| exon_skip_499383 | 9 | 130566914:130566979:130569251:130569366:130569699:130569761 | 130569251:130569366 | ENSG00000136877.10 | ENST00000423577.1,ENST00000393706.2 |
| exon_skip_499384 | 9 | 130566914:130566979:130569270:130569366:130569487:130569558 | 130569270:130569366 | ENSG00000136877.10 | ENST00000460181.1 |
| exon_skip_499386 | 9 | 130566914:130566979:130569487:130569565:130569699:130569761 | 130569487:130569565 | ENSG00000136877.10 | ENST00000479375.2 |
| exon_skip_499387 | 9 | 130569270:130569366:130569487:130569565:130569699:130569761 | 130569487:130569565 | ENSG00000136877.10 | ENST00000431857.1,ENST00000460181.1,ENST00000497386.1,ENST00000488307.1,ENST00000373247.2,ENST00000373228.1,ENST00000373225.3,ENST00000475765.1,ENST00000479147.2,ENST00000481552.2,ENST00000373245.1 |
| exon_skip_499389 | 9 | 130569487:130569565:130569699:130569761:130569864:130569961 | 130569699:130569761 | ENSG00000136877.10 | ENST00000431857.1,ENST00000460181.1,ENST00000479375.2,ENST00000497386.1,ENST00000488307.1,ENST00000373247.2,ENST00000373228.1,ENST00000373225.3,ENST00000475765.1,ENST00000479147.2,ENST00000481552.2,ENST00000373245.1 |
| exon_skip_499390 | 9 | 130570542:130570590:130570836:130570984:130571078:130571161 | 130570836:130570984 | ENSG00000136877.10 | ENST00000460181.1,ENST00000393706.2,ENST00000489522.1,ENST00000488506.1,ENST00000488307.1,ENST00000373247.2,ENST00000373225.3,ENST00000467826.1 |
| exon_skip_499391 | 9 | 130570542:130570590:130571078:130571168:130571962:130571994 | 130571078:130571168 | ENSG00000136877.10 | ENST00000431857.1,ENST00000373228.1,ENST00000373245.1 |
| exon_skip_499395 | 9 | 130571078:130571168:130571962:130572113:130572309:130572316 | 130571962:130572113 | ENSG00000136877.10 | ENST00000460181.1,ENST00000393706.2,ENST00000489522.1,ENST00000488506.1,ENST00000373247.2,ENST00000373228.1,ENST00000373225.3,ENST00000473536.1,ENST00000373245.1,ENST00000467826.1 |
| exon_skip_499398 | 9 | 130572309:130572385:130573223:130573290:130575473:130575563 | 130573223:130573290 | ENSG00000136877.10 | ENST00000460181.1,ENST00000393706.2,ENST00000373247.2,ENST00000475270.1,ENST00000373225.3,ENST00000373245.1,ENST00000467826.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FPGS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_499365 | 9 | 130565210:130565341:130566563:130566692:130566777:130566831 | 130566563:130566692 | ENSG00000136877.10 | ENST00000373247.2,ENST00000373245.1,ENST00000393706.2,ENST00000488307.1,ENST00000373228.1,ENST00000460181.1,ENST00000475765.1 |
| exon_skip_499374 | 9 | 130565602:130565683:130566563:130566692:130566777:130566831 | 130566563:130566692 | ENSG00000136877.10 | ENST00000373225.3,ENST00000431857.1,ENST00000423577.1 |
| exon_skip_499377 | 9 | 130566564:130566692:130566777:130566831:130566914:130566979 | 130566777:130566831 | ENSG00000136877.10 | ENST00000479147.2,ENST00000479375.2,ENST00000373247.2,ENST00000373245.1,ENST00000393706.2,ENST00000488307.1,ENST00000373228.1,ENST00000460181.1,ENST00000475765.1,ENST00000496586.1,ENST00000373225.3,ENST00000431857.1,ENST00000423577.1,ENST00000469310.1 |
| exon_skip_499382 | 9 | 130566914:130566979:130569251:130569366:130569487:130569558 | 130569251:130569366 | ENSG00000136877.10 | ENST00000479147.2,ENST00000373247.2,ENST00000373245.1,ENST00000488307.1,ENST00000373228.1,ENST00000475765.1,ENST00000496586.1,ENST00000373225.3,ENST00000431857.1 |
| exon_skip_499383 | 9 | 130566914:130566979:130569251:130569366:130569699:130569761 | 130569251:130569366 | ENSG00000136877.10 | ENST00000393706.2,ENST00000423577.1 |
| exon_skip_499384 | 9 | 130566914:130566979:130569270:130569366:130569487:130569558 | 130569270:130569366 | ENSG00000136877.10 | ENST00000460181.1 |
| exon_skip_499386 | 9 | 130566914:130566979:130569487:130569565:130569699:130569761 | 130569487:130569565 | ENSG00000136877.10 | ENST00000479375.2 |
| exon_skip_499387 | 9 | 130569270:130569366:130569487:130569565:130569699:130569761 | 130569487:130569565 | ENSG00000136877.10 | ENST00000479147.2,ENST00000373247.2,ENST00000373245.1,ENST00000488307.1,ENST00000373228.1,ENST00000481552.2,ENST00000460181.1,ENST00000475765.1,ENST00000373225.3,ENST00000431857.1,ENST00000497386.1 |
| exon_skip_499389 | 9 | 130569487:130569565:130569699:130569761:130569864:130569961 | 130569699:130569761 | ENSG00000136877.10 | ENST00000479147.2,ENST00000479375.2,ENST00000373247.2,ENST00000373245.1,ENST00000488307.1,ENST00000373228.1,ENST00000481552.2,ENST00000460181.1,ENST00000475765.1,ENST00000373225.3,ENST00000431857.1,ENST00000497386.1 |
| exon_skip_499390 | 9 | 130570542:130570590:130570836:130570984:130571078:130571161 | 130570836:130570984 | ENSG00000136877.10 | ENST00000373247.2,ENST00000393706.2,ENST00000488307.1,ENST00000460181.1,ENST00000373225.3,ENST00000488506.1,ENST00000489522.1,ENST00000467826.1 |
| exon_skip_499391 | 9 | 130570542:130570590:130571078:130571168:130571962:130571994 | 130571078:130571168 | ENSG00000136877.10 | ENST00000373245.1,ENST00000373228.1,ENST00000431857.1 |
| exon_skip_499395 | 9 | 130571078:130571168:130571962:130572113:130572309:130572316 | 130571962:130572113 | ENSG00000136877.10 | ENST00000373247.2,ENST00000373245.1,ENST00000393706.2,ENST00000373228.1,ENST00000460181.1,ENST00000373225.3,ENST00000488506.1,ENST00000489522.1,ENST00000467826.1,ENST00000473536.1 |
| exon_skip_499398 | 9 | 130572309:130572385:130573223:130573290:130575473:130575563 | 130573223:130573290 | ENSG00000136877.10 | ENST00000373247.2,ENST00000373245.1,ENST00000393706.2,ENST00000460181.1,ENST00000373225.3,ENST00000467826.1,ENST00000475270.1 |
| 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 FPGS |
| 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 |
| ENST00000373247 | 130569251 | 130569366 | Frame-shift |
| ENST00000373247 | 130569699 | 130569761 | Frame-shift |
| ENST00000373247 | 130570836 | 130570984 | Frame-shift |
| ENST00000373247 | 130571962 | 130572113 | Frame-shift |
| ENST00000373247 | 130573223 | 130573290 | Frame-shift |
| ENST00000373247 | 130566563 | 130566692 | In-frame |
| ENST00000373247 | 130566777 | 130566831 | In-frame |
| ENST00000373247 | 130569487 | 130569565 | 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 |
| ENST00000373247 | 130569251 | 130569366 | Frame-shift |
| ENST00000373247 | 130569699 | 130569761 | Frame-shift |
| ENST00000373247 | 130570836 | 130570984 | Frame-shift |
| ENST00000373247 | 130571962 | 130572113 | Frame-shift |
| ENST00000373247 | 130573223 | 130573290 | Frame-shift |
| ENST00000373247 | 130566563 | 130566692 | In-frame |
| ENST00000373247 | 130566777 | 130566831 | In-frame |
| ENST00000373247 | 130569487 | 130569565 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FPGS |
| 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 |
| ENST00000373247 | 2291 | 587 | 130566563 | 130566692 | 189 | 317 | 46 | 89 |
| ENST00000373247 | 2291 | 587 | 130566777 | 130566831 | 318 | 371 | 89 | 107 |
| ENST00000373247 | 2291 | 587 | 130569487 | 130569565 | 552 | 629 | 167 | 193 |
| 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 |
| ENST00000373247 | 2291 | 587 | 130566563 | 130566692 | 189 | 317 | 46 | 89 |
| ENST00000373247 | 2291 | 587 | 130566777 | 130566831 | 318 | 371 | 89 | 107 |
| ENST00000373247 | 2291 | 587 | 130569487 | 130569565 | 552 | 629 | 167 | 193 |
| 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 |
| Q05932 | 46 | 89 | 43 | 50 | Alternative sequence | ID=VSP_041959;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05932 | 46 | 89 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
| Q05932 | 89 | 107 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
| Q05932 | 89 | 107 | 106 | 109 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 |
| Q05932 | 89 | 107 | 101 | 101 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q05932 | 167 | 193 | 168 | 193 | Alternative sequence | ID=VSP_041960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05932 | 167 | 193 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
| 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 |
| Q05932 | 46 | 89 | 43 | 50 | Alternative sequence | ID=VSP_041959;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05932 | 46 | 89 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
| Q05932 | 89 | 107 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
| Q05932 | 89 | 107 | 106 | 109 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P08192 |
| Q05932 | 89 | 107 | 101 | 101 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q05932 | 167 | 193 | 168 | 193 | Alternative sequence | ID=VSP_041960;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q05932 | 167 | 193 | 43 | 587 | Chain | ID=PRO_0000010097;Note=Folylpolyglutamate synthase%2C mitochondrial |
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SNVs in the skipped exons for FPGS |
| - 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-G3-A3CJ-01 | exon_skip_499382 exon_skip_499383 exon_skip_499384 | 130569252 | 130569366 | 130569275 | 130569275 | Frame_Shift_Del | G | - | p.R137fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_499382 exon_skip_499383 exon_skip_499384 | 130569271 | 130569366 | 130569275 | 130569275 | Frame_Shift_Del | G | - | p.R137fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_499390 | 130570837 | 130570984 | 130570879 | 130570879 | Frame_Shift_Del | G | - | p.G240fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_499390 | 130570837 | 130570984 | 130570879 | 130570879 | Frame_Shift_Del | G | - | p.G240fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_499390 | 130570837 | 130570984 | 130570879 | 130570879 | Frame_Shift_Del | G | - | p.G240fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_499390 | 130570837 | 130570984 | 130570895 | 130570895 | Frame_Shift_Del | C | - | p.T244fs |
| HNSC | TCGA-CV-5436-01 | exon_skip_499390 | 130570837 | 130570984 | 130570884 | 130570885 | Frame_Shift_Ins | - | C | p.G290fs |
| STAD | TCGA-CD-A4MH-01 | exon_skip_499365 exon_skip_499374 | 130566564 | 130566692 | 130566591 | 130566591 | Nonsense_Mutation | C | T | p.Q56* |
| STAD | TCGA-CD-A4MH-01 | exon_skip_499365 exon_skip_499374 | 130566564 | 130566692 | 130566591 | 130566591 | Nonsense_Mutation | C | T | p.Q56X |
| - 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 |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130570837 | 130570984 | 130570879 | 130570879 | Frame_Shift_Del | G | - | p.G290fs |
| MCC13_SKIN | 130566564 | 130566692 | 130566639 | 130566640 | Missense_Mutation | CC | TT | p.P72F |
| MCC13_SKIN | 130566564 | 130566692 | 130566639 | 130566639 | Missense_Mutation | C | T | p.P72S |
| MCC13_SKIN | 130566564 | 130566692 | 130566640 | 130566640 | Missense_Mutation | C | T | p.P72L |
| KPNRTBM1_AUTONOMIC_GANGLIA | 130566564 | 130566692 | 130566672 | 130566672 | Missense_Mutation | C | A | p.L83M |
| HUH1_LIVER | 130569252 | 130569366 | 130569322 | 130569322 | Missense_Mutation | A | G | p.T153A |
| HUH1_LIVER | 130569271 | 130569366 | 130569322 | 130569322 | Missense_Mutation | A | G | p.T153A |
| KYSE150_OESOPHAGUS | 130569488 | 130569565 | 130569508 | 130569508 | Missense_Mutation | G | T | p.M174I |
| CAL51_BREAST | 130569700 | 130569761 | 130569706 | 130569706 | Missense_Mutation | C | A | p.L196M |
| HEC108_ENDOMETRIUM | 130570837 | 130570984 | 130570856 | 130570856 | Missense_Mutation | C | T | p.P281L |
| JHUEM1_ENDOMETRIUM | 130570837 | 130570984 | 130570856 | 130570856 | Missense_Mutation | C | A | p.P281Q |
| MORCPR_LUNG | 130570837 | 130570984 | 130570909 | 130570909 | Missense_Mutation | G | A | p.G299R |
| MCC13_SKIN | 130570837 | 130570984 | 130570931 | 130570931 | Missense_Mutation | C | T | p.A306V |
| CW2_LARGE_INTESTINE | 130571963 | 130572113 | 130571996 | 130571996 | Missense_Mutation | A | G | p.Q365R |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130571963 | 130572113 | 130572080 | 130572080 | Missense_Mutation | G | A | p.R393H |
| SKUT1_SOFT_TISSUE | 130571963 | 130572113 | 130572080 | 130572080 | Missense_Mutation | G | A | p.R393H |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130571963 | 130572113 | 130572098 | 130572098 | Missense_Mutation | G | A | p.R399H |
| HEC59_ENDOMETRIUM | 130573224 | 130573290 | 130573252 | 130573252 | Missense_Mutation | G | A | p.C439Y |
| HCC202_BREAST | 130571963 | 130572113 | 130572074 | 130572074 | Nonsense_Mutation | G | A | p.W391* |
| NALM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 130571079 | 130571168 | 130571167 | 130571167 | Splice_Site | C | G | p.L353L |
| HCC1359_LUNG | 130571079 | 130571168 | 130571168 | 130571168 | Splice_Site | G | T | p.G354W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FPGS |
| 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 FPGS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FPGS |
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RelatedDrugs for FPGS |
| 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 |
| Q05932 | DB00293 | Raltitrexed | Folylpolyglutamate synthase, mitochondrial | small molecule | approved|investigational | |
| Q05932 | DB00142 | Glutamic Acid | Folylpolyglutamate synthase, mitochondrial | small molecule | approved|nutraceutical |
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RelatedDiseases for FPGS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FPGS | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
| FPGS | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| FPGS | C0024305 | Lymphoma, Non-Hodgkin | 1 | CTD_human |
| FPGS | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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