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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 FTCD |
 Gene summary |
| Gene information | Gene symbol | FTCD | Gene ID | 10841 |
| Gene name | formimidoyltransferase cyclodeaminase | |
| Synonyms | LCHC1 | |
| Cytomap | 21q22.3 | |
| Type of gene | protein-coding | |
| Description | formimidoyltransferase-cyclodeaminaseformiminotransferase-cyclodeaminase | |
| Modification date | 20180519 | |
| UniProtAcc | O95954 | |
| Context | PubMed: FTCD [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 |
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Exon skipping events across known transcript of Ensembl for FTCD 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 FTCD |
| 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 FTCD |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362793 | 21 | 47556898:47556967:47557152:47557248:47558421:47558486 | 47557152:47557248 | ENSG00000160282.9 | ENST00000359679.2,ENST00000397748.1,ENST00000446405.1 |
| exon_skip_362796 | 21 | 47557152:47557248:47558421:47558560:47558793:47558837 | 47558421:47558560 | ENSG00000160282.9 | ENST00000494498.1,ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5 |
| exon_skip_362797 | 21 | 47557152:47557248:47558421:47558560:47562022:47562583 | 47558421:47558560 | ENSG00000160282.9 | ENST00000460011.1 |
| exon_skip_362798 | 21 | 47557152:47557248:47558421:47558560:47565330:47565435 | 47558421:47558560 | ENSG00000160282.9 | ENST00000355384.2,ENST00000397743.1 |
| exon_skip_362804 | 21 | 47558443:47558560:47558793:47558837:47562022:47562246 | 47558793:47558837 | ENSG00000160282.9 | ENST00000494498.1 |
| exon_skip_362805 | 21 | 47558443:47558560:47558793:47558837:47565330:47565435 | 47558793:47558837 | ENSG00000160282.9 | ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5 |
| exon_skip_362806 | 21 | 47558443:47558560:47558793:47558966:47565330:47565435 | 47558793:47558966 | ENSG00000160282.9 | ENST00000488577.1 |
| exon_skip_362817 | 21 | 47565330:47565492:47565731:47565861:47566179:47566241 | 47565731:47565861 | ENSG00000160282.9 | ENST00000355384.2,ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5,ENST00000397743.1 |
| exon_skip_362826 | 21 | 47565791:47565861:47566179:47566241:47570032:47570164 | 47566179:47566241 | ENSG00000160282.9 | ENST00000355384.2,ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5,ENST00000397743.1 |
| exon_skip_362830 | 21 | 47566179:47566241:47570032:47570164:47570301:47570439 | 47570032:47570164 | ENSG00000160282.9 | ENST00000355384.2,ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5,ENST00000397743.1 |
| exon_skip_362840 | 21 | 47570301:47570439:47571471:47571651:47571805:47571894 | 47571471:47571651 | ENSG00000160282.9 | ENST00000355384.2,ENST00000359679.2,ENST00000498355.2,ENST00000397748.1,ENST00000397746.3,ENST00000291670.5,ENST00000397743.1 |
| exon_skip_362841 | 21 | 47571805:47571894:47572820:47572949:47574062:47574246 | 47572820:47572949 | ENSG00000160282.9 | ENST00000397748.1,ENST00000397746.3,ENST00000291670.5,ENST00000397743.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FTCD |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_362793 | 21 | 47556898:47556967:47557152:47557248:47558421:47558486 | 47557152:47557248 | ENSG00000160282.9 | ENST00000397748.1,ENST00000359679.2,ENST00000446405.1 |
| exon_skip_362796 | 21 | 47557152:47557248:47558421:47558560:47558793:47558837 | 47558421:47558560 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000397746.3,ENST00000494498.1 |
| exon_skip_362797 | 21 | 47557152:47557248:47558421:47558560:47562022:47562583 | 47558421:47558560 | ENSG00000160282.9 | ENST00000460011.1 |
| exon_skip_362798 | 21 | 47557152:47557248:47558421:47558560:47565330:47565435 | 47558421:47558560 | ENSG00000160282.9 | ENST00000355384.2,ENST00000397743.1 |
| exon_skip_362804 | 21 | 47558443:47558560:47558793:47558837:47562022:47562246 | 47558793:47558837 | ENSG00000160282.9 | ENST00000494498.1 |
| exon_skip_362805 | 21 | 47558443:47558560:47558793:47558837:47565330:47565435 | 47558793:47558837 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000397746.3 |
| exon_skip_362806 | 21 | 47558443:47558560:47558793:47558966:47565330:47565435 | 47558793:47558966 | ENSG00000160282.9 | ENST00000488577.1 |
| exon_skip_362817 | 21 | 47565330:47565492:47565731:47565861:47566179:47566241 | 47565731:47565861 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000355384.2,ENST00000397746.3,ENST00000397743.1 |
| exon_skip_362826 | 21 | 47565791:47565861:47566179:47566241:47570032:47570164 | 47566179:47566241 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000355384.2,ENST00000397746.3,ENST00000397743.1 |
| exon_skip_362830 | 21 | 47566179:47566241:47570032:47570164:47570301:47570439 | 47570032:47570164 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000355384.2,ENST00000397746.3,ENST00000397743.1 |
| exon_skip_362840 | 21 | 47570301:47570439:47571471:47571651:47571805:47571894 | 47571471:47571651 | ENSG00000160282.9 | ENST00000498355.2,ENST00000291670.5,ENST00000397748.1,ENST00000359679.2,ENST00000355384.2,ENST00000397746.3,ENST00000397743.1 |
| exon_skip_362841 | 21 | 47571805:47571894:47572820:47572949:47574062:47574246 | 47572820:47572949 | ENSG00000160282.9 | ENST00000291670.5,ENST00000397748.1,ENST00000397746.3,ENST00000397743.1 |
| 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 FTCD |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for FTCD |
| 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 FTCD |
| - 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-A7M5-01 | exon_skip_362826 | 47566180 | 47566241 | 47566181 | 47566181 | Frame_Shift_Del | C | - | p.E323fs |
| LUAD | TCGA-17-Z021-01 | exon_skip_362840 | 47571472 | 47571651 | 47571576 | 47571576 | Frame_Shift_Del | C | - | p.A178fs |
| LGG | TCGA-HT-A61A-01 | exon_skip_362841 | 47572821 | 47572949 | 47572855 | 47572855 | Frame_Shift_Del | A | - | p.F111fs |
| LIHC | TCGA-DD-AADD-01 | exon_skip_362793 | 47557153 | 47557248 | 47557204 | 47557205 | Frame_Shift_Ins | - | A | p.F496fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_362840 | 47571472 | 47571651 | 47571522 | 47571523 | Frame_Shift_Ins | - | T | p.A196fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_362840 | 47571472 | 47571651 | 47571522 | 47571523 | Frame_Shift_Ins | - | T | p.H195fs |
| COAD | TCGA-G4-6320-01 | exon_skip_362840 | 47571472 | 47571651 | 47571590 | 47571591 | Frame_Shift_Ins | - | C | p.A173fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_362840 | 47571472 | 47571651 | 47571590 | 47571591 | Frame_Shift_Ins | - | C | p.A173fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_362840 | 47571472 | 47571651 | 47571590 | 47571591 | Frame_Shift_Ins | - | C | p.H173fs |
| STAD | TCGA-BR-7851-01 | exon_skip_362840 | 47571472 | 47571651 | 47571590 | 47571591 | Frame_Shift_Ins | - | C | p.A173fs |
| STAD | TCGA-BR-7851-01 | exon_skip_362840 | 47571472 | 47571651 | 47571591 | 47571592 | Frame_Shift_Ins | - | C | p.A173fs |
| HNSC | TCGA-CR-7364-01 | exon_skip_362793 | 47557153 | 47557248 | 47557204 | 47557204 | Nonsense_Mutation | G | A | p.Q482* |
| PRAD | TCGA-CH-5791-01 | exon_skip_362830 | 47570033 | 47570164 | 47570139 | 47570139 | Nonsense_Mutation | G | T | p.S267* |
| - 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 |
| HEC108_ENDOMETRIUM | 47572821 | 47572949 | 47572912 | 47572912 | Frame_Shift_Del | G | - | p.P92fs |
| KM12_LARGE_INTESTINE | 47557153 | 47557248 | 47557200 | 47557200 | Missense_Mutation | C | T | p.V498M |
| LN428_CENTRAL_NERVOUS_SYSTEM | 47558422 | 47558560 | 47558529 | 47558529 | Missense_Mutation | G | A | p.R446W |
| SNU1040_LARGE_INTESTINE | 47558422 | 47558560 | 47558529 | 47558529 | Missense_Mutation | G | A | p.R446W |
| SNGM_ENDOMETRIUM | 47565732 | 47565861 | 47565739 | 47565739 | Missense_Mutation | G | A | p.A364V |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 47565732 | 47565861 | 47565751 | 47565751 | Missense_Mutation | G | A | p.A360V |
| MDAMB157_BREAST | 47571472 | 47571651 | 47571479 | 47571479 | Missense_Mutation | T | A | p.K210M |
| MCC13_SKIN | 47571472 | 47571651 | 47571486 | 47571487 | Missense_Mutation | GG | AA | p.R208C |
| OVK18_OVARY | 47571472 | 47571651 | 47571486 | 47571486 | Missense_Mutation | G | A | p.R208C |
| MCC13_SKIN | 47571472 | 47571651 | 47571486 | 47571486 | Missense_Mutation | G | A | p.R208C |
| WM2664_SKIN | 47571472 | 47571651 | 47571509 | 47571509 | Missense_Mutation | G | A | p.A200V |
| WM115_SKIN | 47571472 | 47571651 | 47571509 | 47571509 | Missense_Mutation | G | A | p.A200V |
| SKNAS_AUTONOMIC_GANGLIA | 47571472 | 47571651 | 47571516 | 47571516 | Missense_Mutation | G | A | p.R198C |
| UACC62_SKIN | 47571472 | 47571651 | 47571578 | 47571578 | Missense_Mutation | C | T | p.G177E |
| HEC151_ENDOMETRIUM | 47571472 | 47571651 | 47571581 | 47571581 | Missense_Mutation | G | A | p.T176M |
| SKMES1_LUNG | 47571472 | 47571651 | 47571600 | 47571600 | Missense_Mutation | T | A | p.S170C |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47571472 | 47571651 | 47571617 | 47571617 | Missense_Mutation | G | A | p.P164L |
| MFE319_ENDOMETRIUM | 47572821 | 47572949 | 47572838 | 47572838 | Missense_Mutation | T | C | p.E117G |
| NCIH358_LUNG | 47558422 | 47558560 | 47558422 | 47558422 | Splice_Site | C | A | p.Q481H |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47570033 | 47570164 | 47570164 | 47570164 | Splice_Site | C | G | p.E259Q |
| LIM1215_LARGE_INTESTINE | 47571472 | 47571651 | 47571472 | 47571472 | Splice_Site | C | T | p.Q212Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FTCD |
| 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 FTCD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FTCD |
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RelatedDrugs for FTCD |
| 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 |
| O95954 | DB00114 | Pyridoxal phosphate | Formimidoyltransferase-cyclodeaminase | small molecule | approved|investigational|nutraceutical | |
| O95954 | DB00142 | Glutamic Acid | Formimidoyltransferase-cyclodeaminase | small molecule | approved|nutraceutical |
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RelatedDiseases for FTCD |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FTCD | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| FTCD | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| FTCD | C0268609 | Glutamate formiminotransferase deficiency | 1 | CTD_human;ORPHANET;UNIPROT |
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