|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for N4BP2L2 |
 Gene summary |
| Gene information | Gene symbol | N4BP2L2 | Gene ID | 10443 |
| Gene name | NEDD4 binding protein 2 like 2 | |
| Synonyms | 92M18.3|CG005|CG016|PFAAP5 | |
| Cytomap | 13q13.1 | |
| Type of gene | protein-coding | |
| Description | NEDD4-binding protein 2-like 2phosphonoformate immuno-associated protein 5protein from BRCA2 region | |
| Modification date | 20200320 | |
| 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 |
Top |
Gene structures and expression levels for N4BP2L2 |
| 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. |
 |
ENSG00000244754
| 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 |
| CB | DOWN | ENST00000511143.5 | N4BP2L2-214:lncRNA:N4BP2L2 | 8.315303e+01 | -8.750347e-01 | 5.288466e-10 | 2.584643e-08 |
| CB | UP | ENST00000380121.7 | N4BP2L2-203:lncRNA:N4BP2L2 | 1.648975e+02 | 1.077532e+00 | 1.225956e-08 | 3.577364e-07 |
| CB | DOWN | ENST00000504114.5 | N4BP2L2-211:protein_coding:N4BP2L2 | 2.012767e+02 | -1.165062e+00 | 9.947236e-05 | 7.370792e-04 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for N4BP2L2 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_134006 | chr13 | 32443966:32444126:32477887:32478048:32480590:32480637 | 32477887:32478048 |
| exon_skip_174430 | chr13 | 32527464:32527532:32535769:32537027:32538618:32538684 | 32535769:32537027 |
| exon_skip_181418 | chr13 | 32527458:32527532:32537006:32537027:32538778:32538825 | 32537006:32537027 |
| exon_skip_182211 | chr13 | 32517875:32518003:32522182:32522270:32527408:32527532 | 32522182:32522270 |
| exon_skip_186489 | chr13 | 32517875:32518003:32527408:32527532:32538618:32538684 | 32527408:32527532 |
| exon_skip_230965 | chr13 | 32517875:32518003:32521373:32521449:32522182:32522270 | 32521373:32521449 |
| exon_skip_231566 | chr13 | 32537006:32537027:32538618:32538684:32538778:32538825 | 32538618:32538684 |
| exon_skip_232876 | chr13 | 32443966:32444126:32446359:32446480:32477887:32478048 | 32446359:32446480 |
| exon_skip_24963 | chr13 | 32522182:32522270:32527458:32527532:32537006:32537027 | 32527458:32527532 |
| exon_skip_256118 | chr13 | 32527458:32527532:32535769:32537027:32538618:32538684 | 32535769:32537027 |
| exon_skip_260089 | chr13 | 32527458:32527532:32538618:32538684:32538778:32538825 | 32538618:32538684 |
| exon_skip_271720 | chr13 | 32521373:32521449:32522182:32522270:32527408:32527532 | 32522182:32522270 |
| exon_skip_279893 | chr13 | 32522182:32522270:32527458:32527532:32538618:32538684 | 32527458:32527532 |
| exon_skip_38555 | chr13 | 32522182:32522270:32527408:32527532:32535769:32535869 | 32527408:32527532 |
| exon_skip_40356 | chr13 | 32521373:32521449:32522182:32522270:32527458:32527532 | 32522182:32522270 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
 |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_256118 | MSBB_FL | 6.855714e-01 | 7.982456e-01 | -1.126742e-01 | 9.024261e-03 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for N4BP2L2 |
| 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 |
| ENST00000267068 | 32521373 | 32521449 | Frame-shift |
| ENST00000267068 | 32522182 | 32522270 | Frame-shift |
| ENST00000267068 | 32527408 | 32527532 | Frame-shift |
| ENST00000267068 | 32535769 | 32537027 | 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 |
| ENST00000267068 | 32522182 | 32522270 | Frame-shift |
| ENST00000267068 | 32527408 | 32527532 | Frame-shift |
| ENST00000267068 | 32535769 | 32537027 | 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 |
| ENST00000267068 | 32521373 | 32521449 | Frame-shift |
| ENST00000267068 | 32522182 | 32522270 | Frame-shift |
| ENST00000267068 | 32527408 | 32527532 | Frame-shift |
| ENST00000267068 | 32535769 | 32537027 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for N4BP2L2 |
p-ENSG00000244754_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 |
| ENST00000267068 | 9444 | 583 | 32535769 | 32537027 | 166 | 1423 | 0 | 419 |
| 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 |
| ENST00000267068 | 9444 | 583 | 32535769 | 32537027 | 166 | 1423 | 0 | 419 |
| 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 |
| ENST00000267068 | 9444 | 583 | 32535769 | 32537027 | 166 | 1423 | 0 | 419 |
| 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 |
| Q92802 | 0 | 419 | 8 | 32 | Alternative sequence | ID=VSP_041337;Note=In isoform 3. GKFLGPREEVTSEPRCKKLKSTTES->EFCLVRIVMALCSALMTIFTIKMGT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 33 | 461 | Alternative sequence | ID=VSP_041338;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 1 | 583 | Chain | ID=PRO_0000299026;Note=NEDD4-binding protein 2-like 2 |
| Q92802 | 0 | 419 | 162 | 197 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92802 | 0 | 419 | 272 | 272 | Natural variant | ID=VAR_034765;Note=Y->H;Dbxref=dbSNP:rs34062461 |
| 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 |
| Q92802 | 0 | 419 | 8 | 32 | Alternative sequence | ID=VSP_041337;Note=In isoform 3. GKFLGPREEVTSEPRCKKLKSTTES->EFCLVRIVMALCSALMTIFTIKMGT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 33 | 461 | Alternative sequence | ID=VSP_041338;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 1 | 583 | Chain | ID=PRO_0000299026;Note=NEDD4-binding protein 2-like 2 |
| Q92802 | 0 | 419 | 162 | 197 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92802 | 0 | 419 | 272 | 272 | Natural variant | ID=VAR_034765;Note=Y->H;Dbxref=dbSNP:rs34062461 |
| 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 |
| Q92802 | 0 | 419 | 8 | 32 | Alternative sequence | ID=VSP_041337;Note=In isoform 3. GKFLGPREEVTSEPRCKKLKSTTES->EFCLVRIVMALCSALMTIFTIKMGT;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 33 | 461 | Alternative sequence | ID=VSP_041338;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q92802 | 0 | 419 | 1 | 583 | Chain | ID=PRO_0000299026;Note=NEDD4-binding protein 2-like 2 |
| Q92802 | 0 | 419 | 162 | 197 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q92802 | 0 | 419 | 272 | 272 | Natural variant | ID=VAR_034765;Note=Y->H;Dbxref=dbSNP:rs34062461 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in N4BP2L2 |
| 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 |
Top |
SNVs in the skipped exons for N4BP2L2 |
| - 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 |
Top |
AD stage-associated exon skippint events for N4BP2L2 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for N4BP2L2 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for N4BP2L2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SAMD4A | exon_skip_134006 | -4.003378e-01 | 2.683955e-07 |
| CB | DAZAP1 | exon_skip_295471 | -4.100208e-01 | 4.008144e-06 |
| CB | ZNF638 | exon_skip_295471 | -5.797590e-01 | 6.021586e-12 |
| CB | RBM6 | exon_skip_295471 | -5.165679e-01 | 2.125698e-09 |
| CB | SAMD4A | exon_skip_295471 | -4.662777e-01 | 1.029398e-07 |
| CB | U2AF2 | exon_skip_295471 | -5.310644e-01 | 6.150291e-10 |
| CB | CNOT4 | exon_skip_295471 | -4.935938e-01 | 1.352273e-08 |
| CB | TIA1 | exon_skip_295471 | 5.341515e-01 | 4.686847e-10 |
| CB | RBM3 | exon_skip_295471 | 4.625203e-01 | 1.342569e-07 |
| CB | PCBP4 | exon_skip_295471 | 5.388752e-01 | 3.075935e-10 |
| CB | UNK | exon_skip_295471 | 4.641140e-01 | 1.199994e-07 |
| CB | TRA2A | exon_skip_295471 | -5.407888e-01 | 2.588675e-10 |
| CB | FUBP3 | exon_skip_295471 | 4.424438e-01 | 5.264880e-07 |
| CB | FUBP1 | exon_skip_295471 | -4.030075e-01 | 6.051448e-06 |
| CB | HNRNPDL | exon_skip_295471 | 4.860735e-01 | 2.407033e-08 |
| CB | NUP42 | exon_skip_295471 | 6.583645e-01 | 5.416476e-16 |
| CB | PTBP1 | exon_skip_295471 | -4.080845e-01 | 4.495148e-06 |
| CB | SRSF9 | exon_skip_295471 | 4.002079e-01 | 7.114683e-06 |
| CB | SRSF2 | exon_skip_256118 | 4.123122e-01 | 8.882413e-08 |
| CB | TIA1 | exon_skip_256118 | 4.725671e-01 | 4.703995e-10 |
| CB | RBM3 | exon_skip_256118 | 6.205667e-01 | 5.599241e-18 |
| CB | UNK | exon_skip_256118 | 4.592932e-01 | 1.631407e-09 |
| CB | ANKHD1 | exon_skip_256118 | 4.113664e-01 | 9.568346e-08 |
| CB | FUBP3 | exon_skip_256118 | 4.853004e-01 | 1.355802e-10 |
| CB | HNRNPDL | exon_skip_256118 | 5.622772e-01 | 2.204993e-14 |
| CB | HNRNPD | exon_skip_256118 | 4.497337e-01 | 3.867779e-09 |
| CB | NUP42 | exon_skip_256118 | 5.224880e-01 | 2.634573e-12 |
| CB | PABPC1 | exon_skip_256118 | 4.246136e-01 | 3.305152e-08 |
| CB | PABPC4 | exon_skip_256118 | 4.671728e-01 | 7.847752e-10 |
| CB | SRSF2 | exon_skip_29510 | 4.326768e-01 | 3.572440e-08 |
| CB | TIA1 | exon_skip_29510 | 4.741962e-01 | 1.003253e-09 |
| CB | ANKHD1 | exon_skip_29510 | 4.617351e-01 | 3.083464e-09 |
| CB | FUBP3 | exon_skip_29510 | 4.581925e-01 | 4.208611e-09 |
| CB | PUM1 | exon_skip_29510 | 4.008079e-01 | 4.077983e-07 |
| CB | HNRNPDL | exon_skip_29510 | 5.021747e-01 | 6.800516e-11 |
| CB | HNRNPD | exon_skip_29510 | 4.760098e-01 | 8.487802e-10 |
| CB | PTBP3 | exon_skip_29510 | 4.329217e-01 | 3.502759e-08 |
| CB | EIF4B | exon_skip_29510 | 4.256487e-01 | 6.246812e-08 |
| HCC | RBM25 | exon_skip_29510 | 4.037029e-01 | 4.380874e-12 |
| HCC | RBM6 | exon_skip_29510 | 4.288821e-01 | 1.346451e-13 |
| HCC | TIA1 | exon_skip_29510 | 4.222534e-01 | 3.464590e-13 |
| HCC | RBM5 | exon_skip_29510 | 4.395288e-01 | 2.824111e-14 |
| HCC | PCBP4 | exon_skip_29510 | 4.484317e-01 | 7.331147e-15 |
| HCC | UNK | exon_skip_29510 | 4.508475e-01 | 5.049664e-15 |
| HCC | ANKHD1 | exon_skip_29510 | 4.107620e-01 | 1.699149e-12 |
| HCC | SRSF5 | exon_skip_29510 | 5.176406e-01 | 4.791047e-20 |
| IFG | RBM24 | exon_skip_256118 | -4.276344e-01 | 2.321120e-02 |
| IFG | RBMS3 | exon_skip_29510 | 4.107126e-01 | 3.333196e-02 |
| IFG | EWSR1 | exon_skip_29510 | 5.091815e-01 | 6.676310e-03 |
| IFG | SRSF5 | exon_skip_29510 | 5.391693e-01 | 3.707168e-03 |
| STG | PCBP4 | exon_skip_29510 | 4.042870e-01 | 1.243801e-04 |
| TC | RBM3 | exon_skip_174430 | 4.026115e-01 | 1.307149e-07 |
| TC | RBM3 | exon_skip_20083 | 5.283507e-01 | 1.289247e-09 |
Top |
RelatedDrugs for N4BP2L2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for N4BP2L2 |
| 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)
|