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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for FIP1L1 |
 Gene summary |
| Gene information | Gene symbol | FIP1L1 | Gene ID | 81608 |
| Gene name | factor interacting with PAPOLA and CPSF1 | |
| Synonyms | FIP1|Rhe|hFip1 | |
| Cytomap | 4q12 | |
| Type of gene | protein-coding | |
| Description | pre-mRNA 3'-end-processing factor FIP1FIP1 like 1FIP1-like 1 proteinFIP1L1 cleavage and polyadenylation specific factor subunitfactor interacting with PAPrearranged in hypereosinophilia | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| 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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Gene structures and expression levels for FIP1L1 |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000145216
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000337488.11 | FIP1L1-202:protein_coding:FIP1L1 | 3.652732e+01 | 1.305740e+00 | 6.218324e-04 | 1.031286e-02 |
| PG | UP | ENST00000306932.10 | FIP1L1-201:protein_coding:FIP1L1 | 2.238980e+01 | 1.370883e+00 | 3.219082e-03 | 3.345888e-02 |
| CB | UP | ENST00000306932.10 | FIP1L1-201:protein_coding:FIP1L1 | 2.472680e+02 | 1.078961e+00 | 8.819574e-07 | 1.346863e-05 |
| CB | DOWN | ENST00000513008.5 | FIP1L1-211:retained_intron:FIP1L1 | 1.208551e+02 | -8.959749e-01 | 1.815187e-03 | 8.506755e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for FIP1L1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_125428 | chr4 | 53399730:53399839:53414615:53414722:53425872:53425965 | 53414615:53414722 |
| exon_skip_165831 | chr4 | 53428027:53428183:53440582:53440608:53442653:53442707 | 53440582:53440608 |
| exon_skip_92887 | chr4 | 53391009:53391139:53391430:53391498:53399730:53399839 | 53391430:53391498 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_125428 | Mayo_CB | 4.091463e-01 | 5.212987e-01 | -1.121524e-01 | 2.363024e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for FIP1L1 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337488 | 53391430 | 53391498 | In-frame |
| ENST00000337488 | 53414615 | 53414722 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337488 | 53391430 | 53391498 | In-frame |
| ENST00000337488 | 53414615 | 53414722 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000337488 | 53391430 | 53391498 | In-frame |
| ENST00000337488 | 53414615 | 53414722 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FIP1L1 |
p-ENSG00000145216_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| ENST00000337488 | 2215 | 594 | 53391430 | 53391498 | 832 | 899 | 212 | 235 |
| ENST00000337488 | 2215 | 594 | 53414615 | 53414722 | 1011 | 1117 | 272 | 307 |
| Loci of skipped exons in MSBB 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 |
| ENST00000337488 | 2215 | 594 | 53391430 | 53391498 | 832 | 899 | 212 | 235 |
| ENST00000337488 | 2215 | 594 | 53414615 | 53414722 | 1011 | 1117 | 272 | 307 |
| Loci of skipped exons in Mayo 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 |
| ENST00000337488 | 2215 | 594 | 53391430 | 53391498 | 832 | 899 | 212 | 235 |
| ENST00000337488 | 2215 | 594 | 53414615 | 53414722 | 1011 | 1117 | 272 | 307 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 |
| Q6UN15 | 212 | 235 | 213 | 235 | Alternative sequence | ID=VSP_016729;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 212 | 235 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 212 | 235 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
| Q6UN15 | 212 | 235 | 137 | 243 | Region | Note=Sufficient for interaction with CPSF4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749727;Dbxref=PMID:14749727 |
| Q6UN15 | 272 | 307 | 272 | 307 | Alternative sequence | ID=VSP_016730;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 272 | 307 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 272 | 307 | 304 | 304 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D824 |
| Q6UN15 | 272 | 307 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
| Lost protein functional features of individual exon skipping events in MSBB. |
| 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 |
| Q6UN15 | 212 | 235 | 213 | 235 | Alternative sequence | ID=VSP_016729;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 212 | 235 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 212 | 235 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
| Q6UN15 | 212 | 235 | 137 | 243 | Region | Note=Sufficient for interaction with CPSF4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749727;Dbxref=PMID:14749727 |
| Q6UN15 | 272 | 307 | 272 | 307 | Alternative sequence | ID=VSP_016730;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 272 | 307 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 272 | 307 | 304 | 304 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D824 |
| Q6UN15 | 272 | 307 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
| Lost protein functional features of individual exon skipping events in Mayo. |
| 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 |
| Q6UN15 | 212 | 235 | 213 | 235 | Alternative sequence | ID=VSP_016729;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 212 | 235 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 212 | 235 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
| Q6UN15 | 212 | 235 | 137 | 243 | Region | Note=Sufficient for interaction with CPSF4;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14749727;Dbxref=PMID:14749727 |
| Q6UN15 | 272 | 307 | 272 | 307 | Alternative sequence | ID=VSP_016730;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:11230166;Dbxref=PMID:11230166 |
| Q6UN15 | 272 | 307 | 1 | 594 | Chain | ID=PRO_0000215037;Note=Pre-mRNA 3'-end-processing factor FIP1 |
| Q6UN15 | 272 | 307 | 304 | 304 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9D824 |
| Q6UN15 | 272 | 307 | 1 | 356 | Region | Note=Necessary for stimulating PAPOLA activity |
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3'-UTR located exon skipping events that lost miRNA binding sites in FIP1L1 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for FIP1L1 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for FIP1L1 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| ADstage | MSBB | IFG | exon_skip_165831 | -3.794564e-01 | 4.642102e-02 | chr4 | + | 53428027 | 53428183 | 53440582 | 53440608 | 53442653 | 53442707 |
| CDR | MSBB | IFG | exon_skip_165831 | -3.935242e-01 | 3.828101e-02 | chr4 | + | 53428027 | 53428183 | 53440582 | 53440608 | 53442653 | 53442707 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FIP1L1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for FIP1L1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | CNOT4 | exon_skip_125428 | -4.397952e-01 | 6.624387e-09 |
| CB | TRA2A | exon_skip_125428 | -5.417830e-01 | 1.648321e-13 |
| CB | HNRNPA2B1 | exon_skip_125428 | -4.257238e-01 | 2.214917e-08 |
| CB | NUP42 | exon_skip_125428 | 5.452964e-01 | 1.070381e-13 |
| CB | RBM6 | exon_skip_165831 | -5.012570e-01 | 1.700174e-11 |
| CB | NUP42 | exon_skip_165831 | 5.105563e-01 | 6.190616e-12 |
| HCC | HNRNPA2B1 | exon_skip_125428 | -4.078249e-01 | 2.302896e-12 |
| HCC | HNRNPF | exon_skip_125428 | -4.595198e-01 | 1.145800e-15 |
| IFG | ESRP2 | exon_skip_125428 | -4.286508e-01 | 2.285062e-02 |
| PCC | HNRNPF | exon_skip_125428 | -4.093129e-01 | 4.735059e-10 |
| TC | SRSF2 | exon_skip_125428 | 4.752979e-01 | 2.141479e-10 |
| TC | NUP42 | exon_skip_125428 | 5.138962e-01 | 3.655684e-12 |
| TC | HNRNPH2 | exon_skip_125428 | 4.974249e-01 | 2.210194e-11 |
| TC | ESRP1 | exon_skip_125428 | 4.223314e-01 | 2.656056e-08 |
| TC | RBM6 | exon_skip_165831 | -4.517574e-01 | 2.020619e-09 |
| TC | RBM24 | exon_skip_165831 | 5.256156e-01 | 9.569277e-13 |
| TC | NUP42 | exon_skip_165831 | 4.678478e-01 | 4.438657e-10 |
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RelatedDrugs for FIP1L1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FIP1L1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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