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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 NDFIP1 |
 Gene summary |
| Gene information | Gene symbol | NDFIP1 | Gene ID | 80762 |
| Gene name | Nedd4 family interacting protein 1 | |
| Synonyms | N4WBP5 | |
| Cytomap | 5q31.3 | |
| Type of gene | protein-coding | |
| Description | NEDD4 family-interacting protein 1Nedd4 WW domain-binding protein 5breast cancer-associated protein SGA-1Mputative MAPK-activating protein PM13putative NF-kappa-B-activating protein 164putative NFKB and MAPK-activating protein | |
| Modification date | 20180522 | |
| UniProtAcc | Q9BT67 | |
| Context | PubMed: NDFIP1 [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 |
| NDFIP1 | GO:0031398 | positive regulation of protein ubiquitination | 25631046 |
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Exon skipping events across known transcript of Ensembl for NDFIP1 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 NDFIP1 |
| 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 NDFIP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438326 | 5 | 141511372:141511460:141511776:141511907:141515294:141515382 | 141511776:141511907 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438327 | 5 | 141511776:141511907:141515294:141515382:141517298:141517423 | 141515294:141515382 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438343 | 5 | 141515294:141515382:141517298:141517423:141520127:141520174 | 141517298:141517423 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438355 | 5 | 141517298:141517423:141520127:141520194:141524135:141524241 | 141520127:141520194 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438361 | 5 | 141520127:141520194:141524135:141524241:141531295:141533760 | 141524135:141524241 | ENSG00000131507.9 | ENST00000253814.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for NDFIP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_438326 | 5 | 141511372:141511460:141511776:141511907:141515294:141515382 | 141511776:141511907 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438327 | 5 | 141511776:141511907:141515294:141515382:141517298:141517423 | 141515294:141515382 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438343 | 5 | 141515294:141515382:141517298:141517423:141520127:141520174 | 141517298:141517423 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438355 | 5 | 141517298:141517423:141520127:141520194:141524135:141524241 | 141520127:141520194 | ENSG00000131507.9 | ENST00000253814.4 |
| exon_skip_438361 | 5 | 141520127:141520194:141524135:141524241:141531295:141533760 | 141524135:141524241 | ENSG00000131507.9 | ENST00000253814.4 |
| 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 NDFIP1 |
| 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 |
| ENST00000253814 | 141524135 | 141524241 | 3UTR-3CDS |
| ENST00000253814 | 141511776 | 141511907 | Frame-shift |
| ENST00000253814 | 141515294 | 141515382 | Frame-shift |
| ENST00000253814 | 141517298 | 141517423 | Frame-shift |
| ENST00000253814 | 141520127 | 141520194 | Frame-shift |
| 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 |
| ENST00000253814 | 141524135 | 141524241 | 3UTR-3CDS |
| ENST00000253814 | 141511776 | 141511907 | Frame-shift |
| ENST00000253814 | 141515294 | 141515382 | Frame-shift |
| ENST00000253814 | 141517298 | 141517423 | Frame-shift |
| ENST00000253814 | 141520127 | 141520194 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for NDFIP1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for NDFIP1 |
| - 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_438326 | 141511777 | 141511907 | 141511815 | 141511815 | Frame_Shift_Del | C | - | p.P65fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_438327 | 141515295 | 141515382 | 141515362 | 141515362 | Frame_Shift_Del | T | - | p.I117fs |
| SKCM | TCGA-D3-A8GL-06 | exon_skip_438355 | 141520128 | 141520194 | 141520182 | 141520182 | Frame_Shift_Del | T | - | p.F184fs |
| COAD | TCGA-D5-6540-01 | exon_skip_438326 | 141511777 | 141511907 | 141511814 | 141511815 | Frame_Shift_Ins | - | C | p.K63fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_438361 | 141524136 | 141524241 | 141524156 | 141524156 | Nonsense_Mutation | G | T | p.G195* |
| PAAD | TCGA-IB-7651-01 | exon_skip_438361 | 141524136 | 141524241 | 141524156 | 141524156 | Nonsense_Mutation | G | T | p.G195X |
| - 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 |
| SCC15_UPPER_AERODIGESTIVE_TRACT | 141511777 | 141511907 | 141511828 | 141511828 | Missense_Mutation | A | G | p.N68S |
| NCIH1417_LUNG | 141515295 | 141515382 | 141515314 | 141515314 | Missense_Mutation | G | T | p.R101L |
| MFE319_ENDOMETRIUM | 141517299 | 141517423 | 141517314 | 141517314 | Missense_Mutation | A | G | p.N129S |
| MDAPCA2B_PROSTATE | 141517299 | 141517423 | 141517325 | 141517325 | Missense_Mutation | T | G | p.F133V |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 141520128 | 141520194 | 141520137 | 141520137 | Missense_Mutation | T | C | p.Y169H |
| SW620_LARGE_INTESTINE | 141520128 | 141520194 | 141520144 | 141520144 | Missense_Mutation | C | T | p.P171L |
| MEWO_SKIN | 141520128 | 141520194 | 141520185 | 141520185 | Missense_Mutation | C | T | p.L185F |
| MFE319_ENDOMETRIUM | 141515295 | 141515382 | 141515382 | 141515382 | Splice_Site | A | G | p.M124V |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDFIP1 |
| 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 NDFIP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NDFIP1 |
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RelatedDrugs for NDFIP1 |
| 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 NDFIP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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