|
||||||
|
 | |
| |
| |
| 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 NIPSNAP2 |
 Gene summary |
| Gene information | Gene symbol | NIPSNAP2 | Gene ID | 2631 |
| Gene name | nipsnap homolog 2 | |
| Synonyms | GBAS | |
| Cytomap | 7p11.2 | |
| Type of gene | protein-coding | |
| Description | protein NipSnap homolog 24-nitrophenylphosphatase domain and non-neuronal SNAP25-like 2glioblastoma amplified sequence | |
| 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 NIPSNAP2 |
| 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. |
 |
ENSG00000146729
| 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 |
| PCC | UP | ENST00000446778.5 | NIPSNAP2-205:protein_coding:NIPSNAP2 | 2.066221e+01 | 1.880380e+00 | 4.028784e-10 | 1.088577e-06 |
| CB | DOWN | ENST00000446778.5 | NIPSNAP2-205:protein_coding:NIPSNAP2 | 3.129583e+02 | -9.450703e-01 | 1.546476e-05 | 1.526145e-04 |
| TC | DOWN | ENST00000446778.5 | NIPSNAP2-205:protein_coding:NIPSNAP2 | 7.821975e+01 | -1.389259e+00 | 2.125607e-08 | 1.683304e-06 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NIPSNAP2 |
| 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_147373 | chr7 | 55983728:55983868:55984847:55984878:55994894:55994938 | 55984847:55984878 |
| exon_skip_163327 | chr7 | 55983749:55983868:55984847:55984878:55994894:55994938 | 55984847:55984878 |
| exon_skip_174206 | chr7 | 55978126:55978265:55978350:55978395:55981473:55981498 | 55978350:55978395 |
| exon_skip_174412 | chr7 | 55978126:55978265:55981473:55981567:55983728:55983790 | 55981473:55981567 |
| exon_skip_188191 | chr7 | 55978350:55978395:55981473:55981567:55982210:55982280 | 55981473:55981567 |
| exon_skip_249209 | chr7 | 55984847:55984878:55991828:55991884:55994894:55994938 | 55991828:55991884 |
| exon_skip_282567 | chr7 | 55978144:55978265:55978350:55978395:55981473:55981498 | 55978350:55978395 |
| exon_skip_290567 | chr7 | 55978350:55978395:55979760:55979886:55981473:55981498 | 55979760:55979886 |
| exon_skip_52554 | chr7 | 55978350:55978395:55979763:55979886:55981473:55981498 | 55979763:55979886 |
| exon_skip_74773 | chr7 | 55984847:55984878:55994894:55994988:55997366:55997449 | 55994894:55994988 |
| exon_skip_77761 | chr7 | 55981478:55981567:55982210:55982280:55983728:55983790 | 55982210:55982280 |
| exon_skip_86318 | chr7 | 55981473:55981567:55982210:55982280:55983728:55983790 | 55982210:55982280 |
| 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 NIPSNAP2 |
| 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 |
| ENST00000322090 | 55978350 | 55978395 | Frame-shift |
| ENST00000322090 | 55982210 | 55982280 | Frame-shift |
| ENST00000322090 | 55984847 | 55984878 | Frame-shift |
| 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 |
| ENST00000322090 | 55978350 | 55978395 | Frame-shift |
| ENST00000322090 | 55982210 | 55982280 | Frame-shift |
| 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 |
| ENST00000322090 | 55978350 | 55978395 | Frame-shift |
| ENST00000322090 | 55981473 | 55981567 | Frame-shift |
| ENST00000322090 | 55982210 | 55982280 | Frame-shift |
| ENST00000322090 | 55984847 | 55984878 | Frame-shift |
| ENST00000322090 | 55994894 | 55994988 | Frame-shift |
Top |
Infer the effects of exon skipping event on protein functional features for NIPSNAP2 |
p-ENSG00000146729_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in NIPSNAP2 |
| 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 NIPSNAP2 |
| - 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 NIPSNAP2 |
| 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 NIPSNAP2 |
| 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 NIPSNAP2 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | ELAVL1 | exon_skip_282567 | -4.658560e-01 | 6.910184e-10 |
Top |
RelatedDrugs for NIPSNAP2 |
| 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 NIPSNAP2 |
| 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)
|