|
||||||
|
 | |
| |
| |
| 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 NCKIPSD |
 Gene summary |
| Gene information | Gene symbol | NCKIPSD | Gene ID | 51517 |
| Gene name | NCK interacting protein with SH3 domain | |
| Synonyms | AF3P21|DIP|DIP1|ORF1|SPIN90|VIP54|WASLBP|WISH | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | NCK-interacting protein with SH3 domain54 kDa VacA-interacting protein54 kDa vimentin-interacting protein90 kDa SH3 protein interacting with NckSH3 adapter protein SPIN90SH3 protein interacting with Nck, 90 kDaWASP-interacting SH3-domain proteindia | |
| 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 |
Top |
Gene structures and expression levels for NCKIPSD |
| 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. |
 |
ENSG00000213672
| 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. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NCKIPSD |
| 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_112676 | chr3 | 48678877:48678969:48679055:48679183:48679377:48679457 | 48679055:48679183 |
| exon_skip_180249 | chr3 | 48681534:48681780:48682045:48682135:48682348:48682552 | 48682045:48682135 |
| exon_skip_213061 | chr3 | 48679076:48679183:48679377:48679457:48679575:48679713 | 48679377:48679457 |
| exon_skip_228779 | chr3 | 48679076:48679183:48679575:48679713:48679801:48679887 | 48679575:48679713 |
| exon_skip_251770 | chr3 | 48681534:48681780:48682045:48682156:48682348:48682552 | 48682045:48682156 |
| exon_skip_281146 | chr3 | 48680059:48680229:48681287:48681780:48682045:48682135 | 48681287:48681780 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NCKIPSD |
| 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 |
| ENST00000294129 | 48681287 | 48681780 | Frame-shift |
| ENST00000294129 | 48679055 | 48679183 | In-frame |
| ENST00000294129 | 48679377 | 48679457 | 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 |
| ENST00000294129 | 48681287 | 48681780 | Frame-shift |
| ENST00000294129 | 48679055 | 48679183 | In-frame |
| ENST00000294129 | 48679377 | 48679457 | 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 |
| ENST00000294129 | 48681287 | 48681780 | Frame-shift |
| ENST00000294129 | 48682045 | 48682156 | Frame-shift |
| ENST00000294129 | 48679055 | 48679183 | In-frame |
| ENST00000294129 | 48679377 | 48679457 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for NCKIPSD |
p-ENSG00000213672_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 |
| ENST00000294129 | 3006 | 722 | 48679377 | 48679457 | 1610 | 1689 | 496 | 523 |
| ENST00000294129 | 3006 | 722 | 48679055 | 48679183 | 1691 | 1818 | 523 | 566 |
| 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 |
| ENST00000294129 | 3006 | 722 | 48679377 | 48679457 | 1610 | 1689 | 496 | 523 |
| ENST00000294129 | 3006 | 722 | 48679055 | 48679183 | 1691 | 1818 | 523 | 566 |
| 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 |
| ENST00000294129 | 3006 | 722 | 48679377 | 48679457 | 1610 | 1689 | 496 | 523 |
| ENST00000294129 | 3006 | 722 | 48679055 | 48679183 | 1691 | 1818 | 523 | 566 |
| 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 |
| Q9NZQ3 | 496 | 523 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 534 | 601 | Compositional bias | Note=Leu-rich |
| 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 |
| Q9NZQ3 | 496 | 523 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 534 | 601 | Compositional bias | Note=Leu-rich |
| 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 |
| Q9NZQ3 | 496 | 523 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 1 | 722 | Chain | ID=PRO_0000072130;Note=NCK-interacting protein with SH3 domain |
| Q9NZQ3 | 523 | 566 | 534 | 601 | Compositional bias | Note=Leu-rich |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in NCKIPSD |
| 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 NCKIPSD |
| - 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 NCKIPSD |
| 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_213061 | -3.951089e-01 | 3.744061e-02 | chr3 | - | 48679076 | 48679183 | 48679377 | 48679457 | 48679575 | 48679713 |
| CDR | MSBB | IFG | exon_skip_213061 | -5.073531e-01 | 5.855865e-03 | chr3 | - | 48679076 | 48679183 | 48679377 | 48679457 | 48679575 | 48679713 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NCKIPSD |
| 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 NCKIPSD |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for NCKIPSD |
| 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 NCKIPSD |
| 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)
|