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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180522 | |
| UniProtAcc | Q9NZQ3 | |
| Context | PubMed: NCKIPSD [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for NCKIPSD from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for NCKIPSD |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for NCKIPSD |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383772 | 3 | 48716309:48716402:48716487:48716616:48716809:48716890 | 48716487:48716616 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| exon_skip_383775 | 3 | 48716508:48716616:48716809:48716890:48717007:48717146 | 48716809:48716890 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000470006.1,ENST00000294129.2 |
| exon_skip_383776 | 3 | 48716809:48716890:48717007:48717146:48717233:48717320 | 48717007:48717146 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| exon_skip_383778 | 3 | 48717491:48717662:48718719:48719213:48719477:48719568 | 48718719:48719213 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NCKIPSD |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_383772 | 3 | 48716309:48716402:48716487:48716616:48716809:48716890 | 48716487:48716616 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| exon_skip_383775 | 3 | 48716508:48716616:48716809:48716890:48717007:48717146 | 48716809:48716890 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2,ENST00000470006.1 |
| exon_skip_383776 | 3 | 48716809:48716890:48717007:48717146:48717233:48717320 | 48717007:48717146 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| exon_skip_383778 | 3 | 48717491:48717662:48718719:48719213:48719477:48719568 | 48718719:48719213 | ENSG00000213672.3 | ENST00000341520.4,ENST00000416649.2,ENST00000294129.2 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for NCKIPSD |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000294129 | 48717007 | 48717146 | Frame-shift |
| ENST00000294129 | 48718719 | 48719213 | Frame-shift |
| ENST00000294129 | 48716487 | 48716616 | In-frame |
| ENST00000294129 | 48716809 | 48716890 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000294129 | 48717007 | 48717146 | Frame-shift |
| ENST00000294129 | 48718719 | 48719213 | Frame-shift |
| ENST00000294129 | 48716487 | 48716616 | In-frame |
| ENST00000294129 | 48716809 | 48716890 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NCKIPSD |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 | 48716809 | 48716890 | 1610 | 1690 | 496 | 523 |
| ENST00000294129 | 3006 | 722 | 48716487 | 48716616 | 1691 | 1819 | 523 | 566 |
| Loci of skipped exons in GTEx 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 | 48716809 | 48716890 | 1610 | 1690 | 496 | 523 |
| ENST00000294129 | 3006 | 722 | 48716487 | 48716616 | 1691 | 1819 | 523 | 566 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 GTEx. |
| 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 |
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SNVs in the skipped exons for NCKIPSD |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_383772 | 48716488 | 48716616 | 48716607 | 48716607 | Frame_Shift_Del | C | - | p.G527fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_383778 | 48718720 | 48719213 | 48718885 | 48718885 | Frame_Shift_Del | G | - | p.P309fs |
| COAD | TCGA-F4-6856-01 | exon_skip_383775 | 48716810 | 48716890 | 48716892 | 48716893 | Splice_Site | - | G | . |
| LUAD | TCGA-95-7039-01 | exon_skip_383776 | 48717008 | 48717146 | 48717147 | 48717147 | Splice_Site | C | A | p.E451_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48716810 | 48716890 | 48716824 | 48716824 | Missense_Mutation | G | T | p.P519H |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 48716810 | 48716890 | 48716861 | 48716861 | Missense_Mutation | T | C | p.I507V |
| PACADD188_PANCREAS | 48717008 | 48717146 | 48717101 | 48717101 | Missense_Mutation | C | T | p.A466T |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48717008 | 48717146 | 48717101 | 48717101 | Missense_Mutation | C | T | p.A466T |
| CCK81_LARGE_INTESTINE | 48717008 | 48717146 | 48717134 | 48717134 | Missense_Mutation | A | T | p.S455T |
| CHL1_SKIN | 48718720 | 48719213 | 48718750 | 48718750 | Missense_Mutation | C | A | p.E354D |
| HMCB_SKIN | 48718720 | 48719213 | 48718750 | 48718750 | Missense_Mutation | C | A | p.E354D |
| A388_SKIN | 48718720 | 48719213 | 48718778 | 48718778 | Missense_Mutation | G | A | p.S345L |
| RL952_ENDOMETRIUM | 48718720 | 48719213 | 48718851 | 48718851 | Missense_Mutation | G | A | p.R321W |
| RKO_LARGE_INTESTINE | 48718720 | 48719213 | 48719025 | 48719025 | Missense_Mutation | A | G | p.S263P |
| CL34_LARGE_INTESTINE | 48718720 | 48719213 | 48719120 | 48719120 | Missense_Mutation | C | T | p.S231N |
| JHUEM7_ENDOMETRIUM | 48718720 | 48719213 | 48718992 | 48718992 | Nonsense_Mutation | C | A | p.E274* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NCKIPSD |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NCKIPSD |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NCKIPSD |
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RelatedDrugs for NCKIPSD |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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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)
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