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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 FGFR1OP2 |
 Gene summary |
| Gene information | Gene symbol | FGFR1OP2 | Gene ID | 26127 |
| Gene name | FGFR1 oncogene partner 2 | |
| Synonyms | HSPC123-like|WIT3.0 | |
| Cytomap | 12p11.23 | |
| Type of gene | protein-coding | |
| Description | FGFR1 oncogene partner 2fibroblast growth factor receptor 1 oncogene partner 2wound inducible transcript 3.0 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NVK5 | |
| Context | PubMed: FGFR1OP2 [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 FGFR1OP2 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 FGFR1OP2 |
| 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 FGFR1OP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80770 | 12 | 27091432:27091643:27106481:27106639:27107077:27107226 | 27106481:27106639 | ENSG00000111790.9 | ENST00000544111.1 |
| exon_skip_80772 | 12 | 27091432:27091643:27107077:27107226:27109475:27109520 | 27107077:27107226 | ENSG00000111790.9 | ENST00000327214.5,ENST00000395941.4,ENST00000546072.1 |
| exon_skip_80775 | 12 | 27109475:27109593:27110533:27110676:27116274:27116388 | 27110533:27110676 | ENSG00000111790.9 | ENST00000327214.5 |
| exon_skip_80777 | 12 | 27110533:27110676:27113447:27113561:27116274:27116388 | 27113447:27113561 | ENSG00000111790.9 | ENST00000229395.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FGFR1OP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_80770 | 12 | 27091432:27091643:27106481:27106639:27107077:27107226 | 27106481:27106639 | ENSG00000111790.9 | ENST00000544111.1 |
| exon_skip_80772 | 12 | 27091432:27091643:27107077:27107226:27109475:27109520 | 27107077:27107226 | ENSG00000111790.9 | ENST00000395941.4,ENST00000546072.1,ENST00000327214.5 |
| exon_skip_80775 | 12 | 27109475:27109593:27110533:27110676:27116274:27116388 | 27110533:27110676 | ENSG00000111790.9 | ENST00000327214.5 |
| exon_skip_80777 | 12 | 27110533:27110676:27113447:27113561:27116274:27116388 | 27113447:27113561 | ENSG00000111790.9 | ENST00000229395.3 |
| 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 FGFR1OP2 |
| 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 |
| ENST00000229395 | 27113447 | 27113561 | 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 |
| ENST00000229395 | 27113447 | 27113561 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FGFR1OP2 |
| 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 |
| ENST00000229395 | 2941 | 253 | 27113447 | 27113561 | 739 | 852 | 132 | 170 |
| 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 |
| ENST00000229395 | 2941 | 253 | 27113447 | 27113561 | 739 | 852 | 132 | 170 |
| 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 |
| Q9NVK5 | 132 | 170 | 133 | 170 | Alternative sequence | ID=VSP_027538;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:11042152,PMID:17974005 |
| Q9NVK5 | 132 | 170 | 1 | 253 | Chain | ID=PRO_0000299041;Note=FGFR1 oncogene partner 2 |
| Q9NVK5 | 132 | 170 | 160 | 223 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NVK5 | 132 | 170 | 141 | 141 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9NVK5 | 132 | 170 | 132 | 133 | Site | Note=Breakpoint for translocation to form FGFR1OP2-FGFR1 |
| 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 |
| Q9NVK5 | 132 | 170 | 133 | 170 | Alternative sequence | ID=VSP_027538;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:11042152,ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:11042152,PMID:17974005 |
| Q9NVK5 | 132 | 170 | 1 | 253 | Chain | ID=PRO_0000299041;Note=FGFR1 oncogene partner 2 |
| Q9NVK5 | 132 | 170 | 160 | 223 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NVK5 | 132 | 170 | 141 | 141 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9NVK5 | 132 | 170 | 132 | 133 | Site | Note=Breakpoint for translocation to form FGFR1OP2-FGFR1 |
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SNVs in the skipped exons for FGFR1OP2 |
| - 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-DD-A39Y-01 | exon_skip_80772 | 27107078 | 27107226 | 27107141 | 27107141 | Frame_Shift_Del | A | - | p.E17fs |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_80775 | 27110534 | 27110676 | 27110533 | 27110533 | Splice_Site | G | T | e3-1 |
| - 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 |
| BC3C_URINARY_TRACT | 27107078 | 27107226 | 27107119 | 27107119 | Missense_Mutation | G | A | p.A10T |
| BFTC909_KIDNEY | 27110534 | 27110676 | 27110564 | 27110564 | Missense_Mutation | C | T | p.S95L |
| ETK1_BILIARY_TRACT | 27110534 | 27110676 | 27110618 | 27110618 | Missense_Mutation | T | C | p.M113T |
| HEC50B_ENDOMETRIUM | 27113448 | 27113561 | 27113457 | 27113457 | Missense_Mutation | G | A | p.V136I |
| DOV13_OVARY | 27113448 | 27113561 | 27113463 | 27113463 | Missense_Mutation | C | T | p.R138C |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 27113448 | 27113561 | 27113464 | 27113464 | Missense_Mutation | G | A | p.R138H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FGFR1OP2 |
| 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 FGFR1OP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FGFR1OP2 |
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RelatedDrugs for FGFR1OP2 |
| 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 FGFR1OP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| FGFR1OP2 | C0027022 | Myeloproliferative disease | 1 | CTD_human |
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