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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 FYCO1 |
 Gene summary |
| Gene information | Gene symbol | FYCO1 | Gene ID | 79443 |
| Gene name | FYVE and coiled-coil domain containing 1 | |
| Synonyms | CATC2|CTRCT18|RUFY3|ZFYVE7 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | FYVE and coiled-coil domain-containing protein 1RUN and FYVE domain containing 3zinc finger FYVE domain-containing protein 7 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9BQS8 | |
| Context | PubMed: FYCO1 [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 FYCO1 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 FYCO1 |
| 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 FYCO1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382819 | 3 | 45959395:45960557:45960904:45963332:45965147:45965257 | 45960904:45963332 | ENSG00000163820.10 | ENST00000433878.1 |
| exon_skip_382824 | 3 | 45963203:45963332:45965147:45965257:45972562:45972773 | 45965147:45965257 | ENSG00000163820.10 | ENST00000438446.1,ENST00000433878.1,ENST00000296137.2,ENST00000535325.1 |
| exon_skip_382826 | 3 | 45977939:45978035:45979687:45979747:45996740:45996882 | 45979687:45979747 | ENSG00000163820.10 | ENST00000535325.1 |
| exon_skip_382827 | 3 | 46003716:46003884:46005827:46005946:46006524:46006617 | 46005827:46005946 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| exon_skip_382829 | 3 | 46011166:46011257:46014579:46014723:46016730:46016837 | 46014579:46014723 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| exon_skip_382833 | 3 | 46021196:46021322:46023061:46023168:46026347:46026487 | 46023061:46023168 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FYCO1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382819 | 3 | 45959395:45960557:45960904:45963332:45965147:45965257 | 45960904:45963332 | ENSG00000163820.10 | ENST00000433878.1 |
| exon_skip_382824 | 3 | 45963203:45963332:45965147:45965257:45972562:45972773 | 45965147:45965257 | ENSG00000163820.10 | ENST00000433878.1,ENST00000296137.2,ENST00000438446.1,ENST00000535325.1 |
| exon_skip_382826 | 3 | 45977939:45978035:45979687:45979747:45996740:45996882 | 45979687:45979747 | ENSG00000163820.10 | ENST00000535325.1 |
| exon_skip_382827 | 3 | 46003716:46003884:46005827:46005946:46006524:46006617 | 46005827:46005946 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| exon_skip_382829 | 3 | 46011166:46011257:46014579:46014723:46016730:46016837 | 46014579:46014723 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| exon_skip_382833 | 3 | 46021196:46021322:46023061:46023168:46026347:46026487 | 46023061:46023168 | ENSG00000163820.10 | ENST00000296137.2,ENST00000535325.1 |
| 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 FYCO1 |
| 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 |
| ENST00000296137 | 45965147 | 45965257 | Frame-shift |
| ENST00000296137 | 46005827 | 46005946 | Frame-shift |
| ENST00000296137 | 46023061 | 46023168 | Frame-shift |
| ENST00000296137 | 46014579 | 46014723 | 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 |
| ENST00000296137 | 45965147 | 45965257 | Frame-shift |
| ENST00000296137 | 46005827 | 46005946 | Frame-shift |
| ENST00000296137 | 46023061 | 46023168 | Frame-shift |
| ENST00000296137 | 46014579 | 46014723 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FYCO1 |
| 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 |
| ENST00000296137 | 8521 | 1478 | 46014579 | 46014723 | 602 | 745 | 132 | 179 |
| 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 |
| ENST00000296137 | 8521 | 1478 | 46014579 | 46014723 | 602 | 745 | 132 | 179 |
| 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 |
| Q9BQS8 | 132 | 179 | 2 | 1478 | Chain | ID=PRO_0000245837;Note=FYVE and coiled-coil domain-containing protein 1 |
| Q9BQS8 | 132 | 179 | 36 | 169 | Domain | Note=RUN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00178 |
| Q9BQS8 | 132 | 179 | 155 | 155 | Sequence conflict | Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9BQS8 | 132 | 179 | 2 | 1478 | Chain | ID=PRO_0000245837;Note=FYVE and coiled-coil domain-containing protein 1 |
| Q9BQS8 | 132 | 179 | 36 | 169 | Domain | Note=RUN;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00178 |
| Q9BQS8 | 132 | 179 | 155 | 155 | Sequence conflict | Note=Y->C;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for FYCO1 |
| - 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 |
| BLCA | TCGA-FD-A43N-01 | exon_skip_382829 | 46014580 | 46014723 | 46014656 | 46014657 | Frame_Shift_Del | AG | - | p.Y155fs |
| SARC | TCGA-QQ-A8VG-01 | exon_skip_382829 | 46014580 | 46014723 | 46014638 | 46014638 | Nonsense_Mutation | G | A | p.Q161* |
| LUAD | TCGA-91-6828-01 | exon_skip_382829 | 46014580 | 46014723 | 46014653 | 46014653 | Nonsense_Mutation | C | A | p.E156* |
| UCEC | TCGA-BS-A0U8-01 | exon_skip_382829 | 46014580 | 46014723 | 46014692 | 46014692 | Nonsense_Mutation | G | A | p.Q143* |
| LUAD | TCGA-44-2657-01 | exon_skip_382833 | 46023062 | 46023168 | 46023127 | 46023127 | Nonsense_Mutation | C | A | p.E33* |
| LGG | TCGA-HT-7693-01 | exon_skip_382833 | 46023062 | 46023168 | 46023170 | 46023170 | Splice_Site | T | C | . |
| - 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 |
| PCI30_UPPER_AERODIGESTIVE_TRACT | 45960905 | 45963332 | 45963268 | 45963268 | Missense_Mutation | C | T | p.D1476N |
| MDAMB468_BREAST | 45960905 | 45963332 | 45963309 | 45963309 | Missense_Mutation | T | C | p.Y1462C |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45965148 | 45965257 | 45965208 | 45965208 | Missense_Mutation | C | T | p.G1434D |
| KNS62_LUNG | 46005828 | 46005946 | 46005844 | 46005844 | Missense_Mutation | G | T | p.R1085S |
| MZ7MEL_SKIN | 46005828 | 46005946 | 46005927 | 46005927 | Missense_Mutation | C | T | p.G1057E |
| WM1552C_SKIN | 46014580 | 46014723 | 46014616 | 46014616 | Missense_Mutation | C | A | p.G168V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 46014580 | 46014723 | 46014692 | 46014692 | Missense_Mutation | G | T | p.Q143K |
| ES5_BONE | 46023062 | 46023168 | 46023153 | 46023153 | Missense_Mutation | A | G | p.L24P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FYCO1 |
| 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 FYCO1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FYCO1 |
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RelatedDrugs for FYCO1 |
| 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 FYCO1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FYCO1 | C1864908 | Cataract, autosomal recessive congenital 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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