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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 LRRFIP1 |
 Gene summary |
| Gene information | Gene symbol | LRRFIP1 | Gene ID | 9208 |
| Gene name | LRR binding FLII interacting protein 1 | |
| Synonyms | FLAP-1|FLAP1|FLIIAP1|GCF-2|GCF2|HUFI-1|TRIP | |
| Cytomap | 2q37.3 | |
| Type of gene | protein-coding | |
| Description | leucine-rich repeat flightless-interacting protein 1GC-binding factor 2LRR FLII-interacting protein 1NEDD8-conjugating enzymeTAR RNA-interacting proteinleucine rich repeat (in FLII) interacting protein 1 | |
| 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 |
| LRRFIP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 14522076 |
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Gene structures and expression levels for LRRFIP1 |
| 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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ENSG00000124831
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 LRRFIP1 |
| 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_135716 | chr2 | 237720772:237720822:237733774:237733818:237735268:237735333 | 237733774:237733818 |
| exon_skip_137939 | chr2 | 237769950:237769992:237772081:237772198:237772866:237772945 | 237772081:237772198 |
| exon_skip_147321 | chr2 | 237756095:237756187:237757456:237757548:237758729:237758821 | 237757456:237757548 |
| exon_skip_159323 | chr2 | 237720772:237720822:237727876:237727935:237748364:237748399 | 237727876:237727935 |
| exon_skip_169096 | chr2 | 237772081:237772198:237772866:237772945:237774358:237774462 | 237772866:237772945 |
| exon_skip_193370 | chr2 | 237733774:237733818:237735268:237735333:237739232:237739309 | 237735268:237735333 |
| exon_skip_232384 | chr2 | 237727876:237727935:237733774:237733818:237735268:237735333 | 237733774:237733818 |
| exon_skip_254918 | chr2 | 237749199:237749324:237751200:237751271:237753309:237753479 | 237751200:237751271 |
| exon_skip_267195 | chr2 | 237714259:237714276:237717762:237717809:237719523:237719567 | 237717762:237717809 |
| exon_skip_277388 | chr2 | 237757456:237757548:237758729:237758821:237760064:237760205 | 237758729:237758821 |
| exon_skip_280080 | chr2 | 237720772:237720822:237723548:237723586:237727876:237727935 | 237723548:237723586 |
| exon_skip_35779 | chr2 | 237708544:237708630:237714259:237714276:237717762:237717809 | 237714259:237714276 |
| exon_skip_38118 | chr2 | 237749199:237749324:237751200:237751271:237753309:237753478 | 237751200:237751271 |
| exon_skip_53584 | chr2 | 237769943:237769992:237772081:237772198:237772866:237772945 | 237772081:237772198 |
| exon_skip_87823 | chr2 | 237772866:237772945:237774358:237774462:237779422:237779561 | 237774358:237774462 |
| exon_skip_92671 | chr2 | 237719523:237719567:237720772:237720822:237727876:237727935 | 237720772:237720822 |
| 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_276905 | MSBB_PG | 5.510744e-01 | 7.079592e-01 | -1.568848e-01 | 3.720830e-03 |
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Open reading frame (ORF) annotation in the exon skipping event for LRRFIP1 |
| 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 |
| ENST00000392000 | 237751200 | 237751271 | 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 |
| ENST00000392000 | 237751200 | 237751271 | 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 |
| ENST00000392000 | 237751200 | 237751271 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LRRFIP1 |
p-ENSG00000124831_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 |
| ENST00000392000 | 3382 | 808 | 237751200 | 237751271 | 530 | 600 | 137 | 161 |
| 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 |
| ENST00000392000 | 3382 | 808 | 237751200 | 237751271 | 530 | 600 | 137 | 161 |
| 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 |
| ENST00000392000 | 3382 | 808 | 237751200 | 237751271 | 530 | 600 | 137 | 161 |
| 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 |
| Q32MZ4 | 137 | 161 | 137 | 160 | Alternative sequence | ID=VSP_020265;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9671805,ECO:0000303|PubMed:9705290;Dbxref=PMID:15489334,PMID:9671805,PMID:9705290 |
| Q32MZ4 | 137 | 161 | 2 | 808 | Chain | ID=PRO_0000248392;Note=Leucine-rich repeat flightless-interacting protein 1 |
| Q32MZ4 | 137 | 161 | 128 | 250 | Coiled coil | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23099021;Dbxref=PMID:23099021 |
| 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 |
| Q32MZ4 | 137 | 161 | 137 | 160 | Alternative sequence | ID=VSP_020265;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9671805,ECO:0000303|PubMed:9705290;Dbxref=PMID:15489334,PMID:9671805,PMID:9705290 |
| Q32MZ4 | 137 | 161 | 2 | 808 | Chain | ID=PRO_0000248392;Note=Leucine-rich repeat flightless-interacting protein 1 |
| Q32MZ4 | 137 | 161 | 128 | 250 | Coiled coil | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23099021;Dbxref=PMID:23099021 |
| 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 |
| Q32MZ4 | 137 | 161 | 137 | 160 | Alternative sequence | ID=VSP_020265;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9671805,ECO:0000303|PubMed:9705290;Dbxref=PMID:15489334,PMID:9671805,PMID:9705290 |
| Q32MZ4 | 137 | 161 | 2 | 808 | Chain | ID=PRO_0000248392;Note=Leucine-rich repeat flightless-interacting protein 1 |
| Q32MZ4 | 137 | 161 | 128 | 250 | Coiled coil | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23099021;Dbxref=PMID:23099021 |
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3'-UTR located exon skipping events that lost miRNA binding sites in LRRFIP1 |
| 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 LRRFIP1 |
| - 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 LRRFIP1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LRRFIP1 |
| 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 LRRFIP1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | NUP42 | exon_skip_147321 | 4.615677e-01 | 1.170266e-09 |
| CB | TRA2A | exon_skip_137939 | -4.078422e-01 | 9.503280e-08 |
| CB | NUP42 | exon_skip_137939 | 4.926348e-01 | 4.223321e-11 |
| IFG | SRSF2 | exon_skip_147321 | -4.247259e-01 | 2.722595e-02 |
| IFG | RBM3 | exon_skip_147321 | -4.929635e-01 | 8.985689e-03 |
| PCC | ELAVL4 | exon_skip_75599 | 5.969827e-01 | 3.013737e-19 |
| PCC | HNRNPD | exon_skip_75599 | 4.016097e-01 | 1.463266e-08 |
| PCC | PABPC1 | exon_skip_276905 | -4.516671e-01 | 5.951417e-12 |
| PCC | HNRNPF | exon_skip_276905 | -6.263409e-01 | 2.791873e-24 |
| PG | KHDRBS2 | exon_skip_276905 | 5.250834e-01 | 1.969955e-13 |
| PG | KHDRBS3 | exon_skip_276905 | 4.454004e-01 | 1.157172e-09 |
| PG | RALYL | exon_skip_276905 | 5.206523e-01 | 3.393430e-13 |
| TC | RBM3 | exon_skip_147321 | 4.376878e-01 | 1.911584e-08 |
| TC | KHDRBS2 | exon_skip_159405 | 4.890961e-01 | 8.055319e-11 |
| TC | KHDRBS3 | exon_skip_159405 | 4.472853e-01 | 4.283778e-09 |
| TC | RALYL | exon_skip_159405 | 5.892014e-01 | 4.768325e-16 |
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RelatedDrugs for LRRFIP1 |
| 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 LRRFIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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