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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 PIBF1 |
 Gene summary |
| Gene information | Gene symbol | PIBF1 | Gene ID | 10464 |
| Gene name | progesterone immunomodulatory binding factor 1 | |
| Synonyms | C13orf24|CEP90|JBTS33|PIBF | |
| Cytomap | 13q21.33-q22.1 | |
| Type of gene | protein-coding | |
| Description | progesterone-induced-blocking factor 1centrosomal protein of 90 kDa | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WXW3 | |
| Context | PubMed: PIBF1 [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 |
| PIBF1 | GO:0031393 | negative regulation of prostaglandin biosynthetic process | 3863495 |
| PIBF1 | GO:0032695 | negative regulation of interleukin-12 production | 14634107 |
| PIBF1 | GO:0032733 | positive regulation of interleukin-10 production | 14634107 |
| PIBF1 | GO:0032815 | negative regulation of natural killer cell activation | 12516630 |
| PIBF1 | GO:0042531 | positive regulation of tyrosine phosphorylation of STAT protein | 16393965 |
| PIBF1 | GO:0042532 | negative regulation of tyrosine phosphorylation of STAT protein | 16393965 |
| PIBF1 | GO:0042976 | activation of Janus kinase activity | 16393965 |
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Exon skipping events across known transcript of Ensembl for PIBF1 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 PIBF1 |
| 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 PIBF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100718 | 13 | 73401147:73401256:73401870:73402052:73409380:73409414 | 73401870:73402052 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100721 | 13 | 73409380:73409506:73428194:73428293:73467921:73468009 | 73428194:73428293 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100722 | 13 | 73428194:73428293:73467921:73468087:73482668:73482819 | 73467921:73468087 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100727 | 13 | 73467921:73468087:73482668:73482819:73491213:73491304 | 73482668:73482819 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100730 | 13 | 73482668:73482819:73491213:73491304:73505302:73505405 | 73491213:73491304 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100733 | 13 | 73505302:73505405:73539411:73539542:73547728:73547813 | 73539411:73539542 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100737 | 13 | 73539411:73539542:73547728:73547813:73572959:73573133 | 73547728:73547813 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100740 | 13 | 73547728:73547813:73572959:73573133:73590006:73590199 | 73572959:73573133 | ENSG00000083535.11 | ENST00000489922.1,ENST00000326291.6,ENST00000469712.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PIBF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_100718 | 13 | 73401147:73401256:73401870:73402052:73409380:73409414 | 73401870:73402052 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100721 | 13 | 73409380:73409506:73428194:73428293:73467921:73468009 | 73428194:73428293 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100722 | 13 | 73428194:73428293:73467921:73468087:73482668:73482819 | 73467921:73468087 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100727 | 13 | 73467921:73468087:73482668:73482819:73491213:73491304 | 73482668:73482819 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100730 | 13 | 73482668:73482819:73491213:73491304:73505302:73505405 | 73491213:73491304 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100733 | 13 | 73505302:73505405:73539411:73539542:73547728:73547813 | 73539411:73539542 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100737 | 13 | 73539411:73539542:73547728:73547813:73572959:73573133 | 73547728:73547813 | ENSG00000083535.11 | ENST00000326291.6 |
| exon_skip_100740 | 13 | 73547728:73547813:73572959:73573133:73590006:73590199 | 73572959:73573133 | ENSG00000083535.11 | ENST00000326291.6,ENST00000489922.1,ENST00000469712.1 |
| 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 PIBF1 |
| 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 |
| ENST00000326291 | 73401870 | 73402052 | Frame-shift |
| ENST00000326291 | 73467921 | 73468087 | Frame-shift |
| ENST00000326291 | 73482668 | 73482819 | Frame-shift |
| ENST00000326291 | 73491213 | 73491304 | Frame-shift |
| ENST00000326291 | 73539411 | 73539542 | Frame-shift |
| ENST00000326291 | 73547728 | 73547813 | Frame-shift |
| ENST00000326291 | 73428194 | 73428293 | In-frame |
| ENST00000326291 | 73572959 | 73573133 | 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 |
| ENST00000326291 | 73401870 | 73402052 | Frame-shift |
| ENST00000326291 | 73467921 | 73468087 | Frame-shift |
| ENST00000326291 | 73482668 | 73482819 | Frame-shift |
| ENST00000326291 | 73491213 | 73491304 | Frame-shift |
| ENST00000326291 | 73539411 | 73539542 | Frame-shift |
| ENST00000326291 | 73547728 | 73547813 | Frame-shift |
| ENST00000326291 | 73428194 | 73428293 | In-frame |
| ENST00000326291 | 73572959 | 73573133 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PIBF1 |
| 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 |
| ENST00000326291 | 3163 | 757 | 73428194 | 73428293 | 1562 | 1660 | 408 | 440 |
| ENST00000326291 | 3163 | 757 | 73572959 | 73573133 | 2388 | 2561 | 683 | 741 |
| 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 |
| ENST00000326291 | 3163 | 757 | 73428194 | 73428293 | 1562 | 1660 | 408 | 440 |
| ENST00000326291 | 3163 | 757 | 73572959 | 73573133 | 2388 | 2561 | 683 | 741 |
| 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 |
| Q8WXW3 | 408 | 440 | 1 | 541 | Alternative sequence | ID=VSP_015302;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 104 | 757 | Alternative sequence | ID=VSP_015304;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 225 | 683 | Alternative sequence | ID=VSP_057956;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 1 | 757 | Chain | ID=PRO_0000058426;Note=Progesterone-induced-blocking factor 1 |
| Q8WXW3 | 408 | 440 | 1 | 419 | Region | Note=Mediates modulation of Th2 dominant cytokine production;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14634107;Dbxref=PMID:14634107 |
| Q8WXW3 | 683 | 741 | 104 | 757 | Alternative sequence | ID=VSP_015304;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 683 | 741 | 225 | 683 | Alternative sequence | ID=VSP_057956;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 683 | 741 | 1 | 757 | Chain | ID=PRO_0000058426;Note=Progesterone-induced-blocking factor 1 |
| 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 |
| Q8WXW3 | 408 | 440 | 1 | 541 | Alternative sequence | ID=VSP_015302;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 104 | 757 | Alternative sequence | ID=VSP_015304;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 225 | 683 | Alternative sequence | ID=VSP_057956;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 408 | 440 | 1 | 757 | Chain | ID=PRO_0000058426;Note=Progesterone-induced-blocking factor 1 |
| Q8WXW3 | 408 | 440 | 1 | 419 | Region | Note=Mediates modulation of Th2 dominant cytokine production;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14634107;Dbxref=PMID:14634107 |
| Q8WXW3 | 683 | 741 | 104 | 757 | Alternative sequence | ID=VSP_015304;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 683 | 741 | 225 | 683 | Alternative sequence | ID=VSP_057956;Note=In isoform 4. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305|PubMed:15305375;Dbxref=PMID:15305375 |
| Q8WXW3 | 683 | 741 | 1 | 757 | Chain | ID=PRO_0000058426;Note=Progesterone-induced-blocking factor 1 |
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SNVs in the skipped exons for PIBF1 |
| - 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. |
PIBF1_SKCM_exon_skip_100718_psi_boxplot.png |
| - 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 |
| STAD | TCGA-BR-8078-01 | exon_skip_100721 | 73428195 | 73428293 | 73428254 | 73428254 | Frame_Shift_Del | A | - | p.E428fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_100730 | 73491214 | 73491304 | 73491244 | 73491244 | Frame_Shift_Del | T | - | p.L557fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_100730 | 73491214 | 73491304 | 73491244 | 73491244 | Frame_Shift_Del | T | - | p.L557fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_100730 | 73491214 | 73491304 | 73491244 | 73491244 | Frame_Shift_Del | T | - | p.L557fs |
| HNSC | TCGA-CV-A45X-01 | exon_skip_100722 | 73467922 | 73468087 | 73467972 | 73467973 | Frame_Shift_Ins | - | T | p.P458fs |
| BLCA | TCGA-CF-A47X-01 | exon_skip_100722 | 73467922 | 73468087 | 73468075 | 73468076 | Frame_Shift_Ins | - | A | p.K493fs |
| HNSC | TCGA-CR-7380-01 | exon_skip_100722 | 73467922 | 73468087 | 73468075 | 73468076 | Frame_Shift_Ins | - | A | p.Q492fs |
| HNSC | TCGA-CR-7380-01 | exon_skip_100722 | 73467922 | 73468087 | 73468075 | 73468076 | Frame_Shift_Ins | - | A | p.QK492fs |
| UCEC | TCGA-B5-A1MU-01 | exon_skip_100722 | 73467922 | 73468087 | 73467980 | 73467980 | Nonsense_Mutation | A | T | p.K461* |
| KIRC | TCGA-B2-3924-01 | exon_skip_100727 | 73482669 | 73482819 | 73482729 | 73482729 | Nonsense_Mutation | C | T | p.Q517* |
| KIRC | TCGA-B2-3924-01 | exon_skip_100727 | 73482669 | 73482819 | 73482729 | 73482729 | Nonsense_Mutation | C | T | p.Q517X |
| SKCM | TCGA-GN-A266-06 | exon_skip_100718 | 73401871 | 73402052 | 73401869 | 73401869 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-GN-A266-06 |
| Cancer type: SKCM | |
| ESID: exon_skip_100718 | |
| Skipped exon start: 73401871 | |
| Skipped exon end: 73402052 | |
| Mutation start: 73401869 | |
| Mutation end: 73401869 | |
| Mutation type: Splice_Site | |
| Reference seq: A | |
| Mutation seq: G | |
| AAchange: . | |
exon_skip_100718_SKCM_TCGA-GN-A266-06.png | |
exon_skip_306852_SKCM_TCGA-GN-A266-06.png | |
exon_skip_320801SKCM_TCGA-GN-A266-06.png | |
exon_skip_320805_SKCM_TCGA-GN-A266-06.png | |
| - 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 |
| GP2D_LARGE_INTESTINE | 73467922 | 73468087 | 73468064 | 73468065 | Frame_Shift_Ins | - | A | p.E489fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73467922 | 73468087 | 73468075 | 73468076 | Frame_Shift_Ins | - | A | p.K493fs |
| TOV21G_OVARY | 73401871 | 73402052 | 73401908 | 73401908 | Missense_Mutation | A | G | p.K318R |
| MEWO_SKIN | 73401871 | 73402052 | 73401909 | 73401909 | Missense_Mutation | G | T | p.K318N |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73401871 | 73402052 | 73401953 | 73401953 | Missense_Mutation | G | A | p.R333H |
| CW2_LARGE_INTESTINE | 73401871 | 73402052 | 73401971 | 73401971 | Missense_Mutation | A | G | p.D339G |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 73401871 | 73402052 | 73401974 | 73401974 | Missense_Mutation | G | A | p.R340H |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73401871 | 73402052 | 73402030 | 73402030 | Missense_Mutation | T | C | p.Y359H |
| SNU175_LARGE_INTESTINE | 73428195 | 73428293 | 73428203 | 73428203 | Missense_Mutation | G | A | p.R411Q |
| SNU1040_LARGE_INTESTINE | 73467922 | 73468087 | 73468007 | 73468007 | Missense_Mutation | G | A | p.V470I |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73467922 | 73468087 | 73468047 | 73468047 | Missense_Mutation | A | C | p.Q483P |
| NCIH716_LARGE_INTESTINE | 73467922 | 73468087 | 73468070 | 73468070 | Missense_Mutation | T | A | p.Y491N |
| DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73467922 | 73468087 | 73468082 | 73468082 | Missense_Mutation | T | A | p.L495M |
| NCIH520_LUNG | 73482669 | 73482819 | 73482696 | 73482696 | Missense_Mutation | C | A | p.Q506K |
| SISO_CERVIX | 73491214 | 73491304 | 73491222 | 73491222 | Missense_Mutation | G | A | p.E550K |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73491214 | 73491304 | 73491237 | 73491237 | Missense_Mutation | A | G | p.R555G |
| TM31_CENTRAL_NERVOUS_SYSTEM | 73572960 | 73573133 | 73572967 | 73572967 | Missense_Mutation | C | A | p.A686E |
| BIN67_OVARY | 73572960 | 73573133 | 73573005 | 73573005 | Missense_Mutation | C | T | p.H699Y |
| SNU201_CENTRAL_NERVOUS_SYSTEM | 73572960 | 73573133 | 73573122 | 73573122 | Missense_Mutation | C | T | p.P738S |
| SNU81_LARGE_INTESTINE | 73428195 | 73428293 | 73428238 | 73428238 | Nonsense_Mutation | C | T | p.R423* |
| TGBC1TKB_BILIARY_TRACT | 73539412 | 73539542 | 73539481 | 73539481 | Nonsense_Mutation | C | T | p.Q635* |
| JHUEM2_ENDOMETRIUM | 73401871 | 73402052 | 73402052 | 73402052 | Splice_Site | G | T | p.R366I |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 73467922 | 73468087 | 73468086 | 73468086 | Splice_Site | A | G | p.E496G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PIBF1 |
| 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 PIBF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PIBF1 |
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RelatedDrugs for PIBF1 |
| 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 PIBF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PIBF1 | C0000821 | Threatened abortion | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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