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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 FOLH1 |
 Gene summary |
| Gene information | Gene symbol | FOLH1 | Gene ID | 2346 |
| Gene name | folate hydrolase 1 | |
| Synonyms | FGCP|FOLH|GCP2|GCPII|NAALAD1|NAALAdase|PSM|PSMA|mGCP | |
| Cytomap | 11p11.12 | |
| Type of gene | protein-coding | |
| Description | glutamate carboxypeptidase 2N-acetylated alpha-linked acidic dipeptidase 1N-acetylated-alpha-linked acidic dipeptidase INAALADase Icell growth-inhibiting gene 27 proteinfolylpoly-gamma-glutamate carboxypeptidaseglutamate carboxylase IIglutamate car | |
| Modification date | 20180519 | |
| UniProtAcc | Q04609 | |
| Context | PubMed: FOLH1 [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 |
| FOLH1 | GO:0006508 | proteolysis | 12949938 |
| FOLH1 | GO:0035609 | C-terminal protein deglutamylation | 12949938|17241121|24863754 |
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Exon skipping events across known transcript of Ensembl for FOLH1 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 FOLH1 |
| 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 FOLH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71100 | 11 | 49168302:49168497:49170190:49170283:49175397:49175461 | 49170190:49170283 | ENSG00000086205.12 | ENST00000340334.7,ENST00000525826.1,ENST00000458311.2,ENST00000256999.2,ENST00000343844.4 |
| exon_skip_71103 | 11 | 49178268:49178359:49179503:49179595:49186256:49186324 | 49179503:49179595 | ENSG00000086205.12 | ENST00000340334.7,ENST00000525826.1,ENST00000356696.3,ENST00000533034.1,ENST00000458311.2,ENST00000256999.2,ENST00000343844.4 |
| exon_skip_71106 | 11 | 49190746:49190810:49192746:49192829:49194908:49195024 | 49192746:49192829 | ENSG00000086205.12 | ENST00000340334.7,ENST00000525826.1,ENST00000356696.3,ENST00000533034.1,ENST00000458311.2,ENST00000525629.1,ENST00000256999.2,ENST00000343844.4 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENSG00000086205.12 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENSG00000086205.12 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 |
| exon_skip_71118 | 11 | 49227618:49227724:49227831:49227884:49229843:49229879 | 49227831:49227884 | ENSG00000086205.12 | ENST00000533510.1 |
| exon_skip_71123 | 11 | 49227618:49227724:49228329:49228426:49229843:49229879 | 49228329:49228426 | ENSG00000086205.12 | ENST00000340334.7,ENST00000529646.1,ENST00000533034.1 |
| exon_skip_71127 | 11 | 49227618:49227724:49229315:49229453:49229843:49229879 | 49229315:49229453 | ENSG00000086205.12 | ENST00000529648.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FOLH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_71100 | 11 | 49168302:49168497:49170190:49170283:49175397:49175461 | 49170190:49170283 | ENSG00000086205.12 | ENST00000458311.2,ENST00000256999.2,ENST00000525826.1,ENST00000340334.7,ENST00000343844.4 |
| exon_skip_71103 | 11 | 49178268:49178359:49179503:49179595:49186256:49186324 | 49179503:49179595 | ENSG00000086205.12 | ENST00000458311.2,ENST00000256999.2,ENST00000356696.3,ENST00000525826.1,ENST00000340334.7,ENST00000343844.4,ENST00000533034.1 |
| exon_skip_71106 | 11 | 49190746:49190810:49192746:49192829:49194908:49195024 | 49192746:49192829 | ENSG00000086205.12 | ENST00000458311.2,ENST00000256999.2,ENST00000356696.3,ENST00000525826.1,ENST00000340334.7,ENST00000343844.4,ENST00000533034.1,ENST00000525629.1 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENSG00000086205.12 | ENST00000256999.2,ENST00000356696.3,ENST00000340334.7,ENST00000533034.1 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENSG00000086205.12 | ENST00000256999.2,ENST00000356696.3,ENST00000340334.7,ENST00000533034.1,ENST00000529646.1,ENST00000533510.1 |
| exon_skip_71118 | 11 | 49227618:49227724:49227831:49227884:49229843:49229879 | 49227831:49227884 | ENSG00000086205.12 | ENST00000533510.1 |
| exon_skip_71123 | 11 | 49227618:49227724:49228329:49228426:49229843:49229879 | 49228329:49228426 | ENSG00000086205.12 | ENST00000340334.7,ENST00000533034.1,ENST00000529646.1 |
| exon_skip_71127 | 11 | 49227618:49227724:49229315:49229453:49229843:49229879 | 49229315:49229453 | ENSG00000086205.12 | ENST00000529648.1 |
| 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 FOLH1 |
| 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 |
| ENST00000256999 | 49179503 | 49179595 | Frame-shift |
| ENST00000256999 | 49192746 | 49192829 | Frame-shift |
| ENST00000256999 | 49207220 | 49207407 | Frame-shift |
| ENST00000256999 | 49221806 | 49221993 | Frame-shift |
| ENST00000256999 | 49170190 | 49170283 | 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 |
| ENST00000256999 | 49179503 | 49179595 | Frame-shift |
| ENST00000256999 | 49192746 | 49192829 | Frame-shift |
| ENST00000256999 | 49207220 | 49207407 | Frame-shift |
| ENST00000256999 | 49221806 | 49221993 | Frame-shift |
| ENST00000256999 | 49170190 | 49170283 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FOLH1 |
| 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 |
| ENST00000256999 | 2652 | 750 | 49170190 | 49170283 | 2232 | 2324 | 657 | 687 |
| 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 |
| ENST00000256999 | 2652 | 750 | 49170190 | 49170283 | 2232 | 2324 | 657 | 687 |
| 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 FOLH1 |
| - 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. |
FOLH1_LIHC_exon_skip_71100_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-DD-A3A0-01 | exon_skip_71100 | 49170191 | 49170283 | 49170195 | 49170195 | Frame_Shift_Del | A | - | p.Y672fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_71100 | 49170191 | 49170283 | 49170237 | 49170237 | Frame_Shift_Del | T | - | p.R658fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_71103 | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S486fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_71103 | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S486fs |
| STAD | TCGA-BR-4184-01 | exon_skip_71103 | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| STAD | TCGA-F1-6874-01 | exon_skip_71103 | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_71103 | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_71110 | 49207221 | 49207407 | 49207383 | 49207383 | Frame_Shift_Del | C | - | p.A207fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_71110 | 49207221 | 49207407 | 49207395 | 49207395 | Frame_Shift_Del | G | - | p.Q203fs |
| COAD | TCGA-G4-6320-01 | exon_skip_71110 | 49207221 | 49207407 | 49207400 | 49207400 | Frame_Shift_Del | T | - | p.N216fs |
| COAD | TCGA-G4-6628-01 | exon_skip_71103 | 49179504 | 49179595 | 49179534 | 49179535 | Frame_Shift_Ins | - | T | p.S501fs |
| THYM | TCGA-X7-A8DF-01 | exon_skip_71110 | 49207221 | 49207407 | 49207221 | 49207221 | Nonsense_Mutation | C | A | p.E276X |
| LUAD | TCGA-55-6982-01 | exon_skip_71110 | 49207221 | 49207407 | 49207299 | 49207299 | Nonsense_Mutation | C | A | p.G235* |
| LUAD | TCGA-55-6982-01 | exon_skip_71110 | 49207221 | 49207407 | 49207299 | 49207299 | Nonsense_Mutation | C | A | p.G250* |
| SKCM | TCGA-FR-A3YO-06 | exon_skip_71110 | 49207221 | 49207407 | 49207395 | 49207395 | Nonsense_Mutation | G | A | p.Q203* |
| SKCM | TCGA-FR-A3YO-06 | exon_skip_71110 | 49207221 | 49207407 | 49207395 | 49207395 | Nonsense_Mutation | G | A | p.Q203X |
| BRCA | TCGA-A2-A25B-01 | exon_skip_71100 | 49170191 | 49170283 | 49170190 | 49170190 | Splice_Site | C | G | e18+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_71100 | |
| Skipped exon start: 49170191 | |
| Skipped exon end: 49170283 | |
| Mutation start: 49170237 | |
| Mutation end: 49170237 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.R658fs | |
| Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_71110 | |
| Skipped exon start: 49207221 | |
| Skipped exon end: 49207407 | |
| Mutation start: 49207383 | |
| Mutation end: 49207383 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A207fs | |
| Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_71110 | |
| Skipped exon start: 49207221 | |
| Skipped exon end: 49207407 | |
| Mutation start: 49207395 | |
| Mutation end: 49207395 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.Q203fs | |
exon_skip_101516_LIHC_TCGA-G3-A3CJ-01.png | |
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| - 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 |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| SNUC2A_LARGE_INTESTINE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| DU145_PROSTATE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| CCK81_LARGE_INTESTINE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| LOVO_LARGE_INTESTINE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| MFE319_ENDOMETRIUM | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| SNU1040_LARGE_INTESTINE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| SNUC2B_LARGE_INTESTINE | 49179504 | 49179595 | 49179535 | 49179535 | Frame_Shift_Del | T | - | p.S501fs |
| HCT15_LARGE_INTESTINE | 49207221 | 49207407 | 49207332 | 49207332 | Frame_Shift_Del | C | - | p.V239fs |
| 769P_KIDNEY | 49179504 | 49179595 | 49179568 | 49179568 | Missense_Mutation | C | T | p.G490S |
| NCC021_KIDNEY | 49179504 | 49179595 | 49179583 | 49179583 | Missense_Mutation | C | G | p.D485H |
| OC316_OVARY | 49192747 | 49192829 | 49192803 | 49192803 | Missense_Mutation | A | G | p.F418L |
| OC314_OVARY | 49192747 | 49192829 | 49192803 | 49192803 | Missense_Mutation | A | G | p.F418L |
| MFE319_ENDOMETRIUM | 49192747 | 49192829 | 49192820 | 49192820 | Missense_Mutation | G | T | p.P412H |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 49192747 | 49192829 | 49192820 | 49192820 | Missense_Mutation | G | T | p.P412H |
| MDST8_LARGE_INTESTINE | 49207221 | 49207407 | 49207259 | 49207259 | Missense_Mutation | C | T | p.G263D |
| COV504_OVARY | 49207221 | 49207407 | 49207284 | 49207284 | Missense_Mutation | G | A | p.R255C |
| SBC1_LUNG | 49207221 | 49207407 | 49207285 | 49207285 | Missense_Mutation | C | A | p.Q254H |
| NCIH2073_LUNG | 49207221 | 49207407 | 49207290 | 49207290 | Missense_Mutation | C | A | p.V253F |
| NCIH1993_LUNG | 49207221 | 49207407 | 49207290 | 49207290 | Missense_Mutation | C | A | p.V253F |
| HCT15_LARGE_INTESTINE | 49207221 | 49207407 | 49207317 | 49207317 | Missense_Mutation | C | A | p.D244Y |
| MEWO_SKIN | 49207221 | 49207407 | 49207385 | 49207385 | Missense_Mutation | C | T | p.G221E |
| EN_ENDOMETRIUM | 49221807 | 49221993 | 49221962 | 49221962 | Missense_Mutation | T | C | p.T86A |
| KMH2_THYROID | 49221807 | 49221993 | 49221967 | 49221967 | Missense_Mutation | G | A | p.A84V |
| COLO668_LUNG | 49179504 | 49179595 | 49179538 | 49179538 | Nonsense_Mutation | T | A | p.K500* |
| CW2_LARGE_INTESTINE | 49207221 | 49207407 | 49207345 | 49207345 | Nonsense_Mutation | G | T | p.Y234* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FOLH1 |
| 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 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | BRCA | rs182169 | chr11:49207315 | A/G | 3.43e-03 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | LGG | rs182169 | chr11:49207315 | A/G | 1.44e-06 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | KIRC | rs182169 | chr11:49207315 | A/G | 1.53e-07 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | PRAD | rs182169 | chr11:49207315 | A/G | 2.54e-32 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | PRAD | rs182169 | chr11:49207315 | A/G | 7.38e-05 |
| exon_skip_71110 | 11 | 49204700:49204794:49207220:49207407:49208195:49208320 | 49207220:49207407 | ENST00000340334.7,ENST00000356696.3,ENST00000533034.1,ENST00000256999.2 | PRAD | rs182169 | chr11:49207315 | A/G | 4.20e-04 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 | LGG | rs202680 | chr11:49221885 | T/A | 1.47e-06 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 | KIRC | rs202680 | chr11:49221885 | T/A | 1.29e-07 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 | PRAD | rs202680 | chr11:49221885 | T/A | 4.56e-31 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 | PRAD | rs202680 | chr11:49221885 | T/A | 6.75e-05 |
| exon_skip_71114 | 11 | 49214344:49214446:49221806:49221993:49227618:49227724 | 49221806:49221993 | ENST00000340334.7,ENST00000529646.1,ENST00000356696.3,ENST00000533034.1,ENST00000533510.1,ENST00000256999.2 | PRAD | rs202680 | chr11:49221885 | T/A | 6.32e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FOLH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FOLH1 |
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RelatedDrugs for FOLH1 |
| 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 |
| Q04609 | DB00089 | Capromab pendetide | Glutamate carboxypeptidase 2 | biotech | approved | |
| Q04609 | DB00142 | Glutamic Acid | Glutamate carboxypeptidase 2 | small molecule | approved|nutraceutical |
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RelatedDiseases for FOLH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FOLH1 | C0033578 | Prostatic Neoplasms | 2 | CTD_human |
| FOLH1 | C0036341 | Schizophrenia | 2 | PSYGENET |
| FOLH1 | C0011570 | Mental Depression | 1 | PSYGENET |
| FOLH1 | C0011581 | Depressive disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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