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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 PPFIBP2 |
 Gene summary |
| Gene information | Gene symbol | PPFIBP2 | Gene ID | 8495 |
| Gene name | PPFIA binding protein 2 | |
| Synonyms | Cclp1 | |
| Cytomap | 11p15.4 | |
| Type of gene | protein-coding | |
| Description | liprin-beta-2PTPRF interacting protein, binding protein 2 (liprin beta 2)liprin beta 2protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q8ND30 | |
| Context | PubMed: PPFIBP2 [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 PPFIBP2 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 PPFIBP2 |
| 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 PPFIBP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56720 | 11 | 7535000:7535352:7569574:7569730:7570670:7570770 | 7569574:7569730 | ENSG00000166387.7 | ENST00000528947.1 |
| exon_skip_56721 | 11 | 7535000:7535352:7570670:7570770:7586783:7586929 | 7570670:7570770 | ENSG00000166387.7 | ENST00000299492.4 |
| exon_skip_56723 | 11 | 7570670:7570770:7586783:7586998:7614362:7614455 | 7586783:7586998 | ENSG00000166387.7 | ENST00000299492.4,ENST00000527790.1 |
| exon_skip_56725 | 11 | 7614362:7614455:7618790:7618904:7631521:7631547 | 7618790:7618904 | ENSG00000166387.7 | ENST00000299492.4,ENST00000527790.1,ENST00000525597.1,ENST00000529575.1,ENST00000533792.1 |
| exon_skip_56726 | 11 | 7618467:7618604:7618790:7618904:7631521:7631547 | 7618790:7618904 | ENSG00000166387.7 | ENST00000528883.1 |
| exon_skip_56730 | 11 | 7642165:7642258:7647007:7647122:7649515:7649577 | 7647007:7647122 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000529575.1,ENST00000533792.1 |
| exon_skip_56731 | 11 | 7652229:7652259:7654097:7654165:7655725:7655783 | 7654097:7654165 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000534409.1,ENST00000533792.1 |
| exon_skip_56737 | 11 | 7655725:7655783:7656782:7656824:7660962:7661042 | 7656782:7656824 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000534409.1,ENST00000532381.1,ENST00000533792.1,ENST00000530081.1 |
| exon_skip_56739 | 11 | 7656782:7656824:7660962:7661101:7662709:7662851 | 7660962:7661101 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000533792.1 |
| exon_skip_56740 | 11 | 7660962:7661101:7662263:7662296:7662709:7662851 | 7662263:7662296 | ENSG00000166387.7 | ENST00000534409.1 |
| exon_skip_56741 | 11 | 7660962:7661101:7662263:7662314:7662709:7662851 | 7662263:7662314 | ENSG00000166387.7 | ENST00000530081.1 |
| exon_skip_56743 | 11 | 7662709:7662851:7663528:7663657:7669617:7669768 | 7663528:7663657 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000533792.1 |
| exon_skip_56744 | 11 | 7663609:7663657:7669617:7669768:7670030:7670142 | 7669617:7669768 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000524495.1,ENST00000530582.1,ENST00000533792.1 |
| exon_skip_56745 | 11 | 7669617:7669768:7670030:7670142:7670377:7670403 | 7670030:7670142 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000524495.1,ENST00000530582.1,ENST00000532112.1,ENST00000533792.1 |
| exon_skip_56747 | 11 | 7670030:7670142:7670377:7670466:7670762:7670885 | 7670377:7670466 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000524495.1,ENST00000530582.1,ENST00000533792.1 |
| exon_skip_56748 | 11 | 7670762:7670885:7672070:7672196:7672886:7673075 | 7672070:7672196 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000533792.1 |
| exon_skip_56750 | 11 | 7672070:7672196:7672886:7673075:7674254:7674431 | 7672886:7673075 | ENSG00000166387.7 | ENST00000528883.1,ENST00000299492.4,ENST00000530181.1,ENST00000530582.1,ENST00000533792.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PPFIBP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_56720 | 11 | 7535000:7535352:7569574:7569730:7570670:7570770 | 7569574:7569730 | ENSG00000166387.7 | ENST00000528947.1 |
| exon_skip_56721 | 11 | 7535000:7535352:7570670:7570770:7586783:7586929 | 7570670:7570770 | ENSG00000166387.7 | ENST00000299492.4 |
| exon_skip_56723 | 11 | 7570670:7570770:7586783:7586998:7614362:7614455 | 7586783:7586998 | ENSG00000166387.7 | ENST00000299492.4,ENST00000527790.1 |
| exon_skip_56725 | 11 | 7614362:7614455:7618790:7618904:7631521:7631547 | 7618790:7618904 | ENSG00000166387.7 | ENST00000299492.4,ENST00000527790.1,ENST00000529575.1,ENST00000533792.1,ENST00000525597.1 |
| exon_skip_56726 | 11 | 7618467:7618604:7618790:7618904:7631521:7631547 | 7618790:7618904 | ENSG00000166387.7 | ENST00000528883.1 |
| exon_skip_56730 | 11 | 7642165:7642258:7647007:7647122:7649515:7649577 | 7647007:7647122 | ENSG00000166387.7 | ENST00000299492.4,ENST00000529575.1,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1 |
| exon_skip_56731 | 11 | 7652229:7652259:7654097:7654165:7655725:7655783 | 7654097:7654165 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000534409.1,ENST00000530582.1 |
| exon_skip_56737 | 11 | 7655725:7655783:7656782:7656824:7660962:7661042 | 7656782:7656824 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000534409.1,ENST00000530582.1,ENST00000532381.1,ENST00000530081.1 |
| exon_skip_56739 | 11 | 7656782:7656824:7660962:7661101:7662709:7662851 | 7660962:7661101 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1 |
| exon_skip_56740 | 11 | 7660962:7661101:7662263:7662296:7662709:7662851 | 7662263:7662296 | ENSG00000166387.7 | ENST00000534409.1 |
| exon_skip_56741 | 11 | 7660962:7661101:7662263:7662314:7662709:7662851 | 7662263:7662314 | ENSG00000166387.7 | ENST00000530081.1 |
| exon_skip_56743 | 11 | 7662709:7662851:7663528:7663657:7669617:7669768 | 7663528:7663657 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1 |
| exon_skip_56744 | 11 | 7663609:7663657:7669617:7669768:7670030:7670142 | 7669617:7669768 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1,ENST00000524495.1 |
| exon_skip_56745 | 11 | 7669617:7669768:7670030:7670142:7670377:7670403 | 7670030:7670142 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1,ENST00000524495.1,ENST00000532112.1 |
| exon_skip_56747 | 11 | 7670030:7670142:7670377:7670466:7670762:7670885 | 7670377:7670466 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1,ENST00000524495.1 |
| exon_skip_56748 | 11 | 7670762:7670885:7672070:7672196:7672886:7673075 | 7672070:7672196 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1 |
| exon_skip_56750 | 11 | 7672070:7672196:7672886:7673075:7674254:7674431 | 7672886:7673075 | ENSG00000166387.7 | ENST00000299492.4,ENST00000533792.1,ENST00000528883.1,ENST00000530181.1,ENST00000530582.1 |
| 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 PPFIBP2 |
| 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 |
| ENST00000299492 | 7570670 | 7570770 | 5CDS-5UTR |
| ENST00000299492 | 7586783 | 7586998 | Frame-shift |
| ENST00000299492 | 7647007 | 7647122 | Frame-shift |
| ENST00000299492 | 7654097 | 7654165 | Frame-shift |
| ENST00000299492 | 7660962 | 7661101 | Frame-shift |
| ENST00000299492 | 7669617 | 7669768 | Frame-shift |
| ENST00000299492 | 7670030 | 7670142 | Frame-shift |
| ENST00000299492 | 7670377 | 7670466 | Frame-shift |
| ENST00000299492 | 7618790 | 7618904 | In-frame |
| ENST00000299492 | 7656782 | 7656824 | In-frame |
| ENST00000299492 | 7663528 | 7663657 | In-frame |
| ENST00000299492 | 7672070 | 7672196 | In-frame |
| ENST00000299492 | 7672886 | 7673075 | 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 |
| ENST00000299492 | 7570670 | 7570770 | 5CDS-5UTR |
| ENST00000299492 | 7586783 | 7586998 | Frame-shift |
| ENST00000299492 | 7647007 | 7647122 | Frame-shift |
| ENST00000299492 | 7654097 | 7654165 | Frame-shift |
| ENST00000299492 | 7660962 | 7661101 | Frame-shift |
| ENST00000299492 | 7669617 | 7669768 | Frame-shift |
| ENST00000299492 | 7670030 | 7670142 | Frame-shift |
| ENST00000299492 | 7670377 | 7670466 | Frame-shift |
| ENST00000299492 | 7618790 | 7618904 | In-frame |
| ENST00000299492 | 7656782 | 7656824 | In-frame |
| ENST00000299492 | 7663528 | 7663657 | In-frame |
| ENST00000299492 | 7672070 | 7672196 | In-frame |
| ENST00000299492 | 7672886 | 7673075 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PPFIBP2 |
| 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 |
| ENST00000299492 | 3574 | 876 | 7618790 | 7618904 | 761 | 874 | 124 | 162 |
| ENST00000299492 | 3574 | 876 | 7656782 | 7656824 | 1583 | 1624 | 398 | 412 |
| ENST00000299492 | 3574 | 876 | 7663528 | 7663657 | 1906 | 2034 | 506 | 548 |
| ENST00000299492 | 3574 | 876 | 7672070 | 7672196 | 2510 | 2635 | 707 | 749 |
| ENST00000299492 | 3574 | 876 | 7672886 | 7673075 | 2636 | 2824 | 749 | 812 |
| 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 |
| ENST00000299492 | 3574 | 876 | 7618790 | 7618904 | 761 | 874 | 124 | 162 |
| ENST00000299492 | 3574 | 876 | 7656782 | 7656824 | 1583 | 1624 | 398 | 412 |
| ENST00000299492 | 3574 | 876 | 7663528 | 7663657 | 1906 | 2034 | 506 | 548 |
| ENST00000299492 | 3574 | 876 | 7672070 | 7672196 | 2510 | 2635 | 707 | 749 |
| ENST00000299492 | 3574 | 876 | 7672886 | 7673075 | 2636 | 2824 | 749 | 812 |
| 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 |
| Q8ND30 | 124 | 162 | 1 | 143 | Alternative sequence | ID=VSP_047382;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 113 | 124 | Alternative sequence | ID=VSP_047384;Note=In isoform 2. RLEGDKESLILQ->MSSEQWPRLPGK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8ND30 | 124 | 162 | 144 | 162 | Alternative sequence | ID=VSP_047385;Note=In isoform 3. VCLEGHQVKLNAAEEMLQQ->MGKLITRMWKLLRRRSAPK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 124 | 162 | 101 | 313 | Coiled coil | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21462929;Dbxref=PMID:21462929 |
| Q8ND30 | 124 | 162 | 128 | 128 | Sequence conflict | Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 161 | 161 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 398 | 412 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 506 | 548 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 506 | 548 | 512 | 512 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8ND30 | 707 | 749 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 707 | 749 | 718 | 783 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| Q8ND30 | 707 | 749 | 734 | 734 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 749 | 812 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 749 | 812 | 718 | 783 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| Q8ND30 | 749 | 812 | 754 | 754 | Sequence conflict | Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q8ND30 | 124 | 162 | 1 | 143 | Alternative sequence | ID=VSP_047382;Note=In isoform 3. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 113 | 124 | Alternative sequence | ID=VSP_047384;Note=In isoform 2. RLEGDKESLILQ->MSSEQWPRLPGK;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8ND30 | 124 | 162 | 144 | 162 | Alternative sequence | ID=VSP_047385;Note=In isoform 3. VCLEGHQVKLNAAEEMLQQ->MGKLITRMWKLLRRRSAPK;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 124 | 162 | 101 | 313 | Coiled coil | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21462929;Dbxref=PMID:21462929 |
| Q8ND30 | 124 | 162 | 128 | 128 | Sequence conflict | Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 124 | 162 | 161 | 161 | Sequence conflict | Note=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 398 | 412 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 506 | 548 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 506 | 548 | 512 | 512 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q8ND30 | 707 | 749 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 707 | 749 | 718 | 783 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| Q8ND30 | 707 | 749 | 734 | 734 | Sequence conflict | Note=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8ND30 | 749 | 812 | 1 | 876 | Chain | ID=PRO_0000191036;Note=Liprin-beta-2 |
| Q8ND30 | 749 | 812 | 718 | 783 | Domain | Note=SAM 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| Q8ND30 | 749 | 812 | 754 | 754 | Sequence conflict | Note=R->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for PPFIBP2 |
| - 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_56723 | 7586784 | 7586998 | 7586857 | 7586857 | Frame_Shift_Del | C | - | p.N46fs |
| COAD | TCGA-AD-6889-01 | exon_skip_56723 | 7586784 | 7586998 | 7586924 | 7586925 | Frame_Shift_Del | GA | - | p.68_69del |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_56723 | 7586784 | 7586998 | 7586924 | 7586925 | Frame_Shift_Del | GA | - | p.E69fs |
| UCEC | TCGA-BS-A0TJ-01 | exon_skip_56723 | 7586784 | 7586998 | 7586924 | 7586925 | Frame_Shift_Del | GA | - | p.R70fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_56730 | 7647008 | 7647122 | 7647039 | 7647039 | Frame_Shift_Del | C | - | p.A248fs |
| SKCM | TCGA-3N-A9WC-06 | exon_skip_56737 | 7656783 | 7656824 | 7656804 | 7656804 | Frame_Shift_Del | T | - | p.F406fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_56737 | 7656783 | 7656824 | 7656819 | 7656819 | Frame_Shift_Del | C | - | p.P411fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_56737 | 7656783 | 7656824 | 7656819 | 7656819 | Frame_Shift_Del | C | - | p.P411fs |
| SARC | TCGA-DX-A3LY-01 | exon_skip_56745 | 7670031 | 7670142 | 7670079 | 7670079 | Frame_Shift_Del | G | - | p.V616fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_56747 | 7670378 | 7670466 | 7670419 | 7670419 | Frame_Shift_Del | T | - | p.F651fs |
| SKCM | TCGA-ER-A19T-06 | exon_skip_56750 | 7672887 | 7673075 | 7672899 | 7672899 | Frame_Shift_Del | C | - | p.R754fs |
| BLCA | TCGA-XF-A9T0-01 | exon_skip_56723 | 7586784 | 7586998 | 7586921 | 7586921 | Nonsense_Mutation | C | T | p.Q68* |
| SKCM | TCGA-EB-A4IS-01 | exon_skip_56726 exon_skip_56725 | 7618791 | 7618904 | 7618866 | 7618866 | Nonsense_Mutation | C | T | p.Q150* |
| UCEC | TCGA-D1-A103-01 | exon_skip_56730 | 7647008 | 7647122 | 7647053 | 7647053 | Nonsense_Mutation | G | T | p.E253* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_56743 | 7663529 | 7663657 | 7663587 | 7663587 | Nonsense_Mutation | C | T | p.R526* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_56743 | 7663529 | 7663657 | 7663587 | 7663587 | Nonsense_Mutation | C | T | p.R526X |
| SARC | TCGA-KD-A5QT-01 | exon_skip_56744 | 7669618 | 7669768 | 7669673 | 7669673 | Nonsense_Mutation | G | T | p.E568* |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_56750 | 7672887 | 7673075 | 7673019 | 7673019 | Nonsense_Mutation | C | T | p.R794* |
| KIRP | TCGA-2Z-A9JL-01 | exon_skip_56739 | 7660963 | 7661101 | 7660962 | 7660962 | Splice_Site | G | A | . |
| COAD | TCGA-F4-6570-01 | exon_skip_56744 | 7669618 | 7669768 | 7669616 | 7669616 | Splice_Site | A | G | . |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_56747 | 7670378 | 7670466 | 7670467 | 7670467 | Splice_Site | G | A | . |
| STAD | TCGA-HU-A4GQ-01 | exon_skip_56747 | 7670378 | 7670466 | 7670467 | 7670467 | Splice_Site | G | A | p.V666_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 |
| OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7570671 | 7570770 | 7570743 | 7570743 | Missense_Mutation | C | A | p.L13M |
| COLO679_SKIN | 7586784 | 7586998 | 7586854 | 7586854 | Missense_Mutation | G | A | p.M45I |
| CAL148_BREAST | 7586784 | 7586998 | 7586867 | 7586867 | Missense_Mutation | G | A | p.V50M |
| BT483_BREAST | 7586784 | 7586998 | 7586978 | 7586978 | Missense_Mutation | G | C | p.E87Q |
| SLR26_KIDNEY | 7618791 | 7618904 | 7618885 | 7618885 | Missense_Mutation | C | T | p.A156V |
| DOTC24510_CERVIX | 7660963 | 7661101 | 7660984 | 7660984 | Missense_Mutation | C | G | p.H420D |
| SNU1040_LARGE_INTESTINE | 7663529 | 7663657 | 7663567 | 7663567 | Missense_Mutation | C | A | p.T519K |
| SNUC2A_LARGE_INTESTINE | 7669618 | 7669768 | 7669622 | 7669622 | Missense_Mutation | G | A | p.A551T |
| SNUC2B_LARGE_INTESTINE | 7669618 | 7669768 | 7669622 | 7669622 | Missense_Mutation | G | A | p.A551T |
| ES2_OVARY | 7669618 | 7669768 | 7669646 | 7669646 | Missense_Mutation | A | G | p.S559G |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7669618 | 7669768 | 7669659 | 7669659 | Missense_Mutation | T | C | p.V563A |
| JHUEM7_ENDOMETRIUM | 7669618 | 7669768 | 7669680 | 7669680 | Missense_Mutation | T | G | p.F570C |
| SCABER_URINARY_TRACT | 7670031 | 7670142 | 7670050 | 7670050 | Missense_Mutation | C | A | p.P606Q |
| MEWO_SKIN | 7670031 | 7670142 | 7670055 | 7670055 | Missense_Mutation | C | T | p.H608Y |
| SW962_VULVA | 7670378 | 7670466 | 7670416 | 7670416 | Missense_Mutation | C | A | p.Q650K |
| PATU8902_PANCREAS | 7672071 | 7672196 | 7672135 | 7672135 | Missense_Mutation | C | A | p.S729Y |
| JHH6_LIVER | 7672071 | 7672196 | 7672168 | 7672168 | Missense_Mutation | G | A | p.R740Q |
| LS411N_LARGE_INTESTINE | 7672887 | 7673075 | 7672939 | 7672939 | Missense_Mutation | C | A | p.P767H |
| ES3_BONE | 7618791 | 7618904 | 7618836 | 7618836 | Nonsense_Mutation | C | T | p.R140* |
| HGC27_STOMACH | 7669618 | 7669768 | 7669691 | 7669691 | Nonsense_Mutation | C | T | p.Q574* |
| SNU324_PANCREAS | 7618791 | 7618904 | 7618792 | 7618792 | Splice_Site | T | C | p.V125A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PPFIBP2 |
| 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 PPFIBP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PPFIBP2 |
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RelatedDrugs for PPFIBP2 |
| 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 PPFIBP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PPFIBP2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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