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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 PIANP |
 Gene summary |
| Gene information | Gene symbol | PIANP | Gene ID | 196500 |
| Gene name | PILR alpha associated neural protein | |
| Synonyms | C12orf53|LEDA1|PANP|leda-1 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | PILR alpha-associated neural proteinPILR-associating neural proteinliver endothelial differentiation-associated protein-1paired immunoglobin-like type 2 receptor-associating neural protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q8IYJ0 | |
| Context | PubMed: PIANP [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 PIANP 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 PIANP |
| 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 PIANP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89629 | 12 | 6805608:6805690:6806452:6806958:6807210:6807270 | 6806452:6806958 | ENSG00000139200.9 | ENST00000534837.1,ENST00000540656.1,ENST00000320591.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIANP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89629 | 12 | 6805608:6805690:6806452:6806958:6807210:6807270 | 6806452:6806958 | ENSG00000139200.9 | ENST00000540656.1,ENST00000320591.5,ENST00000534837.1 |
| 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 PIANP |
| 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 |
| ENST00000320591 | 6806452 | 6806958 | Frame-shift |
| ENST00000540656 | 6806452 | 6806958 | 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 |
| ENST00000320591 | 6806452 | 6806958 | Frame-shift |
| ENST00000540656 | 6806452 | 6806958 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for PIANP |
| 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 PIANP |
| - 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-A3A0-01 | exon_skip_89629 | 6806453 | 6806958 | 6806812 | 6806812 | Frame_Shift_Del | G | - | p.P55fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_89629 | 6806453 | 6806958 | 6806899 | 6806899 | Frame_Shift_Del | G | - | p.P28fs |
| HNSC | TCGA-QK-A6VB-01 | exon_skip_89629 | 6806453 | 6806958 | 6806838 | 6806839 | Frame_Shift_Ins | - | G | p.L46fs |
| - 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 |
| PECAPJ15_UPPER_AERODIGESTIVE_TRACT | 6806453 | 6806958 | 6806545 | 6806558 | Frame_Shift_Del | TTGGGGTGTGGGGT | - | p.TPHPN140fs |
| SNUC5_LARGE_INTESTINE | 6806453 | 6806958 | 6806486 | 6806486 | Missense_Mutation | G | T | p.L164M |
| RKO_LARGE_INTESTINE | 6806453 | 6806958 | 6806602 | 6806602 | Missense_Mutation | G | A | p.P125L |
| MM386_SKIN | 6806453 | 6806958 | 6806710 | 6806710 | Missense_Mutation | G | A | p.T89I |
| MZ7MEL_SKIN | 6806453 | 6806958 | 6806746 | 6806746 | Missense_Mutation | C | T | p.R77H |
| TE10_OESOPHAGUS | 6806453 | 6806958 | 6806770 | 6806770 | Missense_Mutation | C | A | p.R69L |
| SNGM_ENDOMETRIUM | 6806453 | 6806958 | 6806791 | 6806791 | Missense_Mutation | T | C | p.E62G |
| CORL23_LUNG | 6806453 | 6806958 | 6806845 | 6806845 | Missense_Mutation | C | G | p.R44P |
| MERO41_LUNG | 6806453 | 6806958 | 6806845 | 6806845 | Missense_Mutation | C | G | p.R44P |
| MERO95_LUNG | 6806453 | 6806958 | 6806845 | 6806845 | Missense_Mutation | C | G | p.R44P |
| MM426_SKIN | 6806453 | 6806958 | 6806845 | 6806845 | Missense_Mutation | C | G | p.R44P |
| SUM229PE_BREAST | 6806453 | 6806958 | 6806845 | 6806845 | Missense_Mutation | C | G | p.R44P |
| HEC151_ENDOMETRIUM | 6806453 | 6806958 | 6806956 | 6806956 | Missense_Mutation | G | T | p.P7H |
| SNU1040_LARGE_INTESTINE | 6806453 | 6806958 | 6806531 | 6806531 | Nonsense_Mutation | G | A | p.R149* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIANP |
| 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 PIANP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIANP |
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RelatedDrugs for PIANP |
| 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 PIANP |
| 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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