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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 PHB |
 Gene summary |
| Gene information | Gene symbol | PHB | Gene ID | 5245 |
| Gene name | prohibitin | |
| Synonyms | HEL-215|HEL-S-54e|PHB1 | |
| Cytomap | 17q21.33 | |
| Type of gene | protein-coding | |
| Description | prohibitinepididymis luminal protein 215epididymis secretory sperm binding protein Li 54e | |
| Modification date | 20180519 | |
| UniProtAcc | P35232 | |
| Context | PubMed: PHB [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 |
| PHB | GO:0000122 | negative regulation of transcription by RNA polymerase II | 16964284 |
| PHB | GO:0006355 | regulation of transcription, DNA-templated | 14500729 |
| PHB | GO:0010944 | negative regulation of transcription by competitive promoter binding | 18487222 |
| PHB | GO:0016575 | histone deacetylation | 12466959 |
| PHB | GO:0045892 | negative regulation of transcription, DNA-templated | 12065415|12566959 |
| PHB | GO:0045893 | positive regulation of transcription, DNA-templated | 14500729 |
| PHB | GO:0045917 | positive regulation of complement activation | 17070910 |
| PHB | GO:0050847 | progesterone receptor signaling pathway | 16964284 |
| PHB | GO:0060766 | negative regulation of androgen receptor signaling pathway | 16964284 |
| PHB | GO:0071354 | cellular response to interleukin-6 | 17324931 |
| PHB | GO:2000323 | negative regulation of glucocorticoid receptor signaling pathway | 16964284 |
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Exon skipping events across known transcript of Ensembl for PHB 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 PHB |
| 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 PHB |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291169 | 17 | 47482548:47482566:47484120:47484216:47486403:47486520 | 47484120:47484216 | ENSG00000167085.7 | ENST00000504124.1,ENST00000300408.3,ENST00000508009.1,ENST00000419140.2 |
| exon_skip_291171 | 17 | 47484122:47484216:47486403:47486520:47486692:47486835 | 47486403:47486520 | ENSG00000167085.7 | ENST00000504124.1,ENST00000300408.3,ENST00000512041.2,ENST00000508009.1,ENST00000446735.1,ENST00000419140.2 |
| exon_skip_291174 | 17 | 47486810:47486835:47489039:47489201:47490538:47490615 | 47489039:47489201 | ENSG00000167085.7 | ENST00000504124.1,ENST00000434917.2,ENST00000511832.1,ENST00000300408.3,ENST00000512041.2,ENST00000393345.4,ENST00000446735.1,ENST00000419140.2 |
| exon_skip_291176 | 17 | 47489039:47489201:47490538:47490653:47492196:47492220 | 47490538:47490653 | ENSG00000167085.7 | ENST00000511832.1,ENST00000393345.4 |
| exon_skip_291180 | 17 | 47490538:47490653:47491603:47491695:47492196:47492220 | 47491603:47491695 | ENSG00000167085.7 | ENST00000419140.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PHB |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_291169 | 17 | 47482548:47482566:47484120:47484216:47486403:47486520 | 47484120:47484216 | ENSG00000167085.7 | ENST00000300408.3,ENST00000419140.2,ENST00000504124.1,ENST00000508009.1 |
| exon_skip_291171 | 17 | 47484122:47484216:47486403:47486520:47486692:47486835 | 47486403:47486520 | ENSG00000167085.7 | ENST00000300408.3,ENST00000419140.2,ENST00000504124.1,ENST00000508009.1,ENST00000512041.2,ENST00000446735.1 |
| exon_skip_291174 | 17 | 47486810:47486835:47489039:47489201:47490538:47490615 | 47489039:47489201 | ENSG00000167085.7 | ENST00000300408.3,ENST00000511832.1,ENST00000419140.2,ENST00000504124.1,ENST00000512041.2,ENST00000446735.1,ENST00000393345.4,ENST00000434917.2 |
| exon_skip_291176 | 17 | 47489039:47489201:47490538:47490653:47492196:47492220 | 47490538:47490653 | ENSG00000167085.7 | ENST00000511832.1,ENST00000393345.4 |
| exon_skip_291180 | 17 | 47490538:47490653:47491603:47491695:47492196:47492220 | 47491603:47491695 | ENSG00000167085.7 | ENST00000419140.2 |
| 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 PHB |
| 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 |
| ENST00000300408 | 47484120 | 47484216 | In-frame |
| ENST00000300408 | 47486403 | 47486520 | In-frame |
| ENST00000300408 | 47489039 | 47489201 | 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 |
| ENST00000300408 | 47484120 | 47484216 | In-frame |
| ENST00000300408 | 47486403 | 47486520 | In-frame |
| ENST00000300408 | 47489039 | 47489201 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PHB |
| 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 |
| ENST00000300408 | 1849 | 272 | 47489039 | 47489201 | 162 | 323 | 29 | 83 |
| ENST00000300408 | 1849 | 272 | 47486403 | 47486520 | 467 | 583 | 131 | 170 |
| ENST00000300408 | 1849 | 272 | 47484120 | 47484216 | 584 | 679 | 170 | 202 |
| 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 |
| ENST00000300408 | 1849 | 272 | 47489039 | 47489201 | 162 | 323 | 29 | 83 |
| ENST00000300408 | 1849 | 272 | 47486403 | 47486520 | 467 | 583 | 131 | 170 |
| ENST00000300408 | 1849 | 272 | 47484120 | 47484216 | 584 | 679 | 170 | 202 |
| 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 |
| P35232 | 29 | 83 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 131 | 170 | 140 | 256 | Alternative sequence | ID=VSP_054922;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35232 | 131 | 170 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 170 | 202 | 140 | 256 | Alternative sequence | ID=VSP_054922;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35232 | 170 | 202 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 170 | 202 | 177 | 211 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35232 | 170 | 202 | 186 | 186 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P67778 |
| P35232 | 170 | 202 | 202 | 202 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P35232 | 170 | 202 | 202 | 202 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P67778 |
| 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 |
| P35232 | 29 | 83 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 131 | 170 | 140 | 256 | Alternative sequence | ID=VSP_054922;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35232 | 131 | 170 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 170 | 202 | 140 | 256 | Alternative sequence | ID=VSP_054922;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| P35232 | 170 | 202 | 2 | 272 | Chain | ID=PRO_0000213878;Note=Prohibitin |
| P35232 | 170 | 202 | 177 | 211 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P35232 | 170 | 202 | 186 | 186 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P67778 |
| P35232 | 170 | 202 | 202 | 202 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P35232 | 170 | 202 | 202 | 202 | Modified residue | Note=N6-succinyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P67778 |
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SNVs in the skipped exons for PHB |
| - 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 |
| KIRP | TCGA-AL-3473-01 | exon_skip_291171 | 47486404 | 47486520 | 47486482 | 47486483 | Frame_Shift_Del | CT | - | p.144_145del |
| KIRP | TCGA-AL-3473-01 | exon_skip_291171 | 47486404 | 47486520 | 47486482 | 47486483 | Frame_Shift_Del | CT | - | p.E144fs |
| STAD | TCGA-CG-5723-01 | exon_skip_291171 | 47486404 | 47486520 | 47486482 | 47486483 | Frame_Shift_Del | CT | - | p.144_145del |
| STAD | TCGA-CG-5723-01 | exon_skip_291171 | 47486404 | 47486520 | 47486482 | 47486483 | Frame_Shift_Del | CT | - | p.E144fs |
| KIRP | TCGA-Q2-A5QZ-01 | exon_skip_291174 | 47489040 | 47489201 | 47489082 | 47489082 | Frame_Shift_Del | G | - | p.R70fs |
| UCEC | TCGA-A5-A0VQ-01 | exon_skip_291174 | 47489040 | 47489201 | 47489169 | 47489169 | Nonsense_Mutation | G | A | p.R41* |
| LUSC | TCGA-33-4566-01 | exon_skip_291169 | 47484121 | 47484216 | 47484217 | 47484217 | Splice_Site | C | G | p.T171_splice |
| ESCA | TCGA-LN-A9FP-01 | exon_skip_291171 | 47486404 | 47486520 | 47486521 | 47486521 | Splice_Site | C | A | . |
| ESCA | TCGA-LN-A9FP-01 | exon_skip_291171 | 47486404 | 47486520 | 47486521 | 47486521 | Splice_Site | C | A | e4-1 |
| - 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 |
| CCK81_LARGE_INTESTINE | 47484121 | 47484216 | 47484140 | 47484140 | Missense_Mutation | G | A | p.A196V |
| HEC6_ENDOMETRIUM | 47484121 | 47484216 | 47484182 | 47484182 | Missense_Mutation | G | A | p.A182V |
| SCC9_UPPER_AERODIGESTIVE_TRACT | 47484121 | 47484216 | 47484200 | 47484200 | Missense_Mutation | C | G | p.G176A |
| HEC59_ENDOMETRIUM | 47486404 | 47486520 | 47486439 | 47486439 | Missense_Mutation | C | T | p.A159T |
| NCIH23_LUNG | 47486404 | 47486520 | 47486465 | 47486465 | Missense_Mutation | A | C | p.V150G |
| HCT116_LARGE_INTESTINE | 47486404 | 47486520 | 47486465 | 47486465 | Missense_Mutation | A | C | p.V150G |
| SNU324_PANCREAS | 47486404 | 47486520 | 47486516 | 47486516 | Missense_Mutation | C | T | p.R133H |
| HEC265_ENDOMETRIUM | 47489040 | 47489201 | 47489180 | 47489180 | Missense_Mutation | A | T | p.V37D |
| NCIH1930_LUNG | 47490539 | 47490653 | 47490602 | 47490602 | Missense_Mutation | T | C | p.I9V |
| HCC2108_LUNG | 47490539 | 47490653 | 47490620 | 47490620 | Missense_Mutation | C | T | p.A3T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PHB |
| 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 PHB |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PHB |
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RelatedDrugs for PHB |
| 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 PHB |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PHB | C0038356 | Stomach Neoplasms | 2 | CTD_human |
| PHB | C0001418 | Adenocarcinoma | 1 | CTD_human |
| PHB | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| PHB | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| PHB | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
| PHB | C0032927 | Precancerous Conditions | 1 | CTD_human |
| PHB | C0033941 | Psychoses, Substance-Induced | 1 | CTD_human |
| PHB | C0036341 | Schizophrenia | 1 | CTD_human |
| PHB | C2239176 | Liver carcinoma | 1 | CTD_human |
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