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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 GCH1 |
 Gene summary |
| Gene information | Gene symbol | GCH1 | Gene ID | 2643 |
| Gene name | GTP cyclohydrolase 1 | |
| Synonyms | DYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B | |
| Cytomap | 14q22.2 | |
| Type of gene | protein-coding | |
| Description | GTP cyclohydrolase 1GTP cyclohydrolase IGTP-CH-Idystonia 14guanosine 5'-triphosphate cyclohydrolase I | |
| Modification date | 20180523 | |
| UniProtAcc | P30793 | |
| Context | PubMed: GCH1 [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 |
| GCH1 | GO:0006729 | tetrahydrobiopterin biosynthetic process | 7678411|9445252 |
| GCH1 | GO:0032496 | response to lipopolysaccharide | 7678411|9445252 |
| GCH1 | GO:0034341 | response to interferon-gamma | 7678411|9445252|12607127 |
| GCH1 | GO:0034612 | response to tumor necrosis factor | 9445252 |
| GCH1 | GO:0042416 | dopamine biosynthetic process | 16338639 |
| GCH1 | GO:0042559 | pteridine-containing compound biosynthetic process | 2463916|3753653|15721862 |
| GCH1 | GO:0051000 | positive regulation of nitric-oxide synthase activity | 12176133|15721862 |
| GCH1 | GO:0051260 | protein homooligomerization | 11087827 |
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Exon skipping events across known transcript of Ensembl for GCH1 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 GCH1 |
| 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 GCH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113437 | 14 | 55309713:55309772:55310499:55310587:55312485:55312565 | 55310499:55310587 | ENSG00000131979.14 | ENST00000543643.2 |
| exon_skip_113438 | 14 | 55309713:55309772:55310718:55310861:55312485:55312565 | 55310718:55310861 | ENSG00000131979.14 | ENST00000395514.1 |
| exon_skip_113449 | 14 | 55309713:55309772:55312485:55312570:55313816:55313848 | 55312485:55312570 | ENSG00000131979.14 | ENST00000536224.2 |
| exon_skip_113452 | 14 | 55310724:55310861:55312485:55312570:55313816:55313848 | 55312485:55312570 | ENSG00000131979.14 | ENST00000491895.2,ENST00000395514.1,ENST00000254299.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GCH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_113437 | 14 | 55309713:55309772:55310499:55310587:55312485:55312565 | 55310499:55310587 | ENSG00000131979.14 | ENST00000543643.2 |
| exon_skip_113438 | 14 | 55309713:55309772:55310718:55310861:55312485:55312565 | 55310718:55310861 | ENSG00000131979.14 | ENST00000395514.1 |
| exon_skip_113449 | 14 | 55309713:55309772:55312485:55312570:55313816:55313848 | 55312485:55312570 | ENSG00000131979.14 | ENST00000536224.2 |
| exon_skip_113452 | 14 | 55310724:55310861:55312485:55312570:55313816:55313848 | 55312485:55312570 | ENSG00000131979.14 | ENST00000395514.1,ENST00000491895.2,ENST00000254299.4 |
| 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 GCH1 |
| 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 |
| ENST00000395514 | 55310718 | 55310861 | 5CDS-5UTR |
| ENST00000395514 | 55312485 | 55312570 | Frame-shift |
| ENST00000491895 | 55312485 | 55312570 | Frame-shift |
| 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 |
| ENST00000395514 | 55310718 | 55310861 | 5CDS-5UTR |
| ENST00000395514 | 55312485 | 55312570 | Frame-shift |
| ENST00000491895 | 55312485 | 55312570 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for GCH1 |
| 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 |
| 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 |
| 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 GCH1 |
| - 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 |
| STAD | TCGA-BR-4368-01 | 55310500 | 55310587 | 55310530 | 55310530 | Frame_Shift_Del | A | - | p.V229fs | |
| BLCA | TCGA-4Z-AA81-01 | 55310500 | 55310587 | 55310582 | 55310582 | Nonsense_Mutation | G | C | p.S211* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-4368-01 |
| Cancer type: STAD | |
| ESID: | |
| Skipped exon start: 55310500 | |
| Skipped exon end: 55310587 | |
| Mutation start: 55310530 | |
| Mutation end: 55310530 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: A | |
| Mutation seq: - | |
| AAchange: p.V229fs | |
exon_skip_113437_STAD_TCGA-BR-4368-01.png | |
exon_skip_121036_STAD_TCGA-BR-4368-01.png | |
exon_skip_126510_STAD_TCGA-BR-4368-01.png | |
exon_skip_309996_STAD_TCGA-BR-4368-01.png | |
exon_skip_384879_STAD_TCGA-BR-4368-01.png | |
exon_skip_425876_STAD_TCGA-BR-4368-01.png | |
exon_skip_491897_STAD_TCGA-BR-4368-01.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 |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55310719 | 55310861 | 55310766 | 55310766 | Missense_Mutation | C | T | p.R241Q |
| KM12_LARGE_INTESTINE | 55310719 | 55310861 | 55310793 | 55310793 | Missense_Mutation | C | T | p.G232D |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55312486 | 55312570 | 55312505 | 55312505 | Missense_Mutation | C | T | p.G203R |
| HEC1A_ENDOMETRIUM | 55312486 | 55312570 | 55312505 | 55312505 | Missense_Mutation | C | T | p.G203R |
| HEC1_ENDOMETRIUM | 55312486 | 55312570 | 55312505 | 55312505 | Missense_Mutation | C | T | p.G203R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GCH1 |
| 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 GCH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GCH1 |
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RelatedDrugs for GCH1 |
| 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 |
| P30793 | DB02325 | Isopropyl alcohol | GTP cyclohydrolase 1 | small molecule | approved|investigational |
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RelatedDiseases for GCH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GCH1 | C1851920 | Dopa-Responsive Dystonia | 14 | CTD_human;ORPHANET;UNIPROT |
| GCH1 | C0268467 | Hyperphenylalaninemia, BH4-Deficient, B | 4 | CTD_human;ORPHANET;UNIPROT |
| GCH1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| GCH1 | C0013386 | Dyskinesia, Drug-Induced | 1 | CTD_human |
| GCH1 | C0013421 | Dystonia | 1 | CTD_human;HPO |
| GCH1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| GCH1 | C0026837 | Muscle Rigidity | 1 | CTD_human;HPO |
| GCH1 | C0026858 | Musculoskeletal Pain | 1 | CTD_human |
| GCH1 | C0030193 | Pain | 1 | CTD_human |
| GCH1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| GCH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| GCH1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| GCH1 | C0086439 | Hypokinesia | 1 | CTD_human |
| GCH1 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| GCH1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
| GCH1 | C0525045 | Mood Disorders | 1 | PSYGENET |
| GCH1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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