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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 FUBP1 |
Gene summary |
| Gene information | Gene symbol | FUBP1 | Gene ID | 8880 |
| Gene name | far upstream element binding protein 1 | |
| Synonyms | FBP|FUBP|hDH V | |
| Cytomap | 1p31.1 | |
| Type of gene | protein-coding | |
| Description | far upstream element-binding protein 1DNA helicase VFUSE binding protein 1far upstream element (FUSE) binding protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96AE4 | |
| Context | PubMed: FUBP1 [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 |
| FUBP1 | GO:0010628 | positive regulation of gene expression | 19087307 |
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Exon skipping events across known transcript of Ensembl for FUBP1 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 FUBP1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FUBP1 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28047 | 1 | 78409739:78409954:78411190:78411327:78412214:78412261 | 78411190:78411327 | ENSG00000162613.12 | ENST00000488814.1,ENST00000492405.1,ENST00000474632.1,ENST00000489495.1 |
| exon_skip_28048 | 1 | 78411190:78411327:78412214:78412261:78413137:78413232 | 78412214:78412261 | ENSG00000162613.12 | ENST00000488814.1,ENST00000492405.1,ENST00000474632.1 |
| exon_skip_28055 | 1 | 78412214:78412261:78413137:78413232:78414839:78414952 | 78413137:78413232 | ENSG00000162613.12 | ENST00000492405.1 |
| exon_skip_28057 | 1 | 78412214:78412261:78413137:78413237:78414839:78414952 | 78413137:78413237 | ENSG00000162613.12 | ENST00000294623.4,ENST00000488814.1 |
| exon_skip_28058 | 1 | 78414367:78414459:78414839:78414985:78420939:78420967 | 78414839:78414985 | ENSG00000162613.12 | ENST00000370768.2,ENST00000436586.2 |
| exon_skip_28060 | 1 | 78432377:78432435:78432567:78432639:78432732:78432782 | 78432567:78432639 | ENSG00000162613.12 | ENST00000421641.1,ENST00000370768.2,ENST00000294623.4,ENST00000436586.2,ENST00000370767.1 |
| exon_skip_28061 | 1 | 78433848:78433887:78434705:78434768:78435608:78435699 | 78434705:78434768 | ENSG00000162613.12 | ENST00000421641.1,ENST00000436586.2 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FUBP1 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_28047 | 1 | 78409739:78409954:78411190:78411327:78412214:78412261 | 78411190:78411327 | ENSG00000162613.12 | ENST00000474632.1,ENST00000489495.1,ENST00000488814.1,ENST00000492405.1 |
| exon_skip_28048 | 1 | 78411190:78411327:78412214:78412261:78413137:78413232 | 78412214:78412261 | ENSG00000162613.12 | ENST00000474632.1,ENST00000488814.1,ENST00000492405.1 |
| exon_skip_28055 | 1 | 78412214:78412261:78413137:78413232:78414839:78414952 | 78413137:78413232 | ENSG00000162613.12 | ENST00000492405.1 |
| exon_skip_28057 | 1 | 78412214:78412261:78413137:78413237:78414839:78414952 | 78413137:78413237 | ENSG00000162613.12 | ENST00000488814.1,ENST00000294623.4 |
| exon_skip_28058 | 1 | 78414367:78414459:78414839:78414985:78420939:78420967 | 78414839:78414985 | ENSG00000162613.12 | ENST00000370768.2,ENST00000436586.2 |
| exon_skip_28060 | 1 | 78432377:78432435:78432567:78432639:78432732:78432782 | 78432567:78432639 | ENSG00000162613.12 | ENST00000294623.4,ENST00000370768.2,ENST00000370767.1,ENST00000436586.2,ENST00000421641.1 |
| exon_skip_28061 | 1 | 78433848:78433887:78434705:78434768:78435608:78435699 | 78434705:78434768 | ENSG00000162613.12 | ENST00000436586.2,ENST00000421641.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FUBP1 |
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 |
| ENST00000370768 | 78414839 | 78414985 | Frame-shift |
| ENST00000370768 | 78432567 | 78432639 | 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 |
| ENST00000370768 | 78414839 | 78414985 | Frame-shift |
| ENST00000370768 | 78432567 | 78432639 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FUBP1 |
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 |
| ENST00000370768 | 2395 | 644 | 78432567 | 78432639 | 426 | 497 | 114 | 138 |
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 |
| ENST00000370768 | 2395 | 644 | 78432567 | 78432639 | 426 | 497 | 114 | 138 |
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 |
| Q96AE4 | 114 | 138 | 133 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 2 | 644 | Chain | ID=PRO_0000050135;Note=Far upstream element-binding protein 1 |
| Q96AE4 | 114 | 138 | 100 | 164 | Domain | Note=KH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00117 |
| Q96AE4 | 114 | 138 | 112 | 116 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 118 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 121 | 130 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
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 |
| Q96AE4 | 114 | 138 | 133 | 136 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 2 | 644 | Chain | ID=PRO_0000050135;Note=Far upstream element-binding protein 1 |
| Q96AE4 | 114 | 138 | 100 | 164 | Domain | Note=KH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00117 |
| Q96AE4 | 114 | 138 | 112 | 116 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 118 | 120 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
| Q96AE4 | 114 | 138 | 121 | 130 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4LIJ |
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SNVs in the skipped exons for FUBP1 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| LGG | TCGA-HT-7616-01 | exon_skip_28060 | 78432568 | 78432639 | 78432569 | 78432570 | Frame_Shift_Ins | - | G | p.P138fs |
| LUSC | TCGA-85-6561-01 | exon_skip_28058 | 78414840 | 78414985 | 78414917 | 78414917 | Nonsense_Mutation | C | A | p.E617* |
| LGG | TCGA-TM-A84M-01 | exon_skip_28060 | 78432568 | 78432639 | 78432598 | 78432598 | Nonsense_Mutation | C | A | p.E129* |
- 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 |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78414840 | 78414985 | 78414965 | 78414965 | Missense_Mutation | T | C | p.T601A |
| JHOC5_OVARY | 78414840 | 78414985 | 78414965 | 78414965 | Missense_Mutation | T | C | p.T601A |
| NUGC4_STOMACH | 78414840 | 78414985 | 78414965 | 78414965 | Missense_Mutation | T | C | p.T601A |
| KYSE510_OESOPHAGUS | 78414840 | 78414985 | 78414965 | 78414965 | Missense_Mutation | T | C | p.T601A |
| VAL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78414840 | 78414985 | 78414977 | 78414977 | Missense_Mutation | C | T | p.V597I |
| IALM_LUNG | 78432568 | 78432639 | 78432577 | 78432577 | Missense_Mutation | T | C | p.I136V |
| CW2_LARGE_INTESTINE | 78432568 | 78432639 | 78432609 | 78432609 | Missense_Mutation | C | T | p.R125H |
| RCCFG2_KIDNEY | 78432568 | 78432639 | 78432609 | 78432609 | Missense_Mutation | C | T | p.R125H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FUBP1 |
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 FUBP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FUBP1 |
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RelatedDrugs for FUBP1 |
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 FUBP1 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |