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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 PROM1 |
 Gene summary |
| Gene information | Gene symbol | PROM1 | Gene ID | 8842 |
| Gene name | prominin 1 | |
| Synonyms | AC133|CD133|CORD12|MCDR2|MSTP061|PROML1|RP41|STGD4 | |
| Cytomap | 4p15.32 | |
| Type of gene | protein-coding | |
| Description | prominin-1antigen AC133hPromininhematopoietic stem cell antigenprominin-like protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | O43490 | |
| Context | PubMed: PROM1 [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 PROM1 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 PROM1 |
| 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 PROM1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_428630 | 4 | 15972665:15972705:15981017:15981086:15981503:15981527 | 15981017:15981086 | ENSG00000007062.7 | ENST00000447510.2,ENST00000508167.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428632 | 4 | 15972665:15972705:15981503:15981527:15982044:15982160 | 15981503:15981527 | ENSG00000007062.7 | ENST00000540805.1,ENST00000503884.1,ENST00000513946.1 |
| exon_skip_428633 | 4 | 15981017:15981086:15981503:15981527:15982044:15982160 | 15981503:15981527 | ENSG00000007062.7 | ENST00000447510.2,ENST00000508167.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428636 | 4 | 15982044:15982160:15985885:15985978:15987382:15987413 | 15985885:15985978 | ENSG00000007062.7 | ENST00000540805.1,ENST00000447510.2,ENST00000539194.1,ENST00000508167.1,ENST00000513946.1,ENST00000543373.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428640 | 4 | 15989285:15989339:15991354:15991447:15992844:15992916 | 15991354:15991447 | ENSG00000007062.7 | ENST00000540805.1,ENST00000447510.2,ENST00000539194.1,ENST00000508167.1,ENST00000543373.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428645 | 4 | 15992844:15992916:15993870:15994014:15995609:15995694 | 15993870:15994014 | ENSG00000007062.7 | ENST00000540805.1,ENST00000447510.2,ENST00000539194.1,ENST00000508167.1,ENST00000543373.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428649 | 4 | 16017788:16017863:16019945:16020163:16024948:16025038 | 16019945:16020163 | ENSG00000007062.7 | ENST00000540805.1,ENST00000447510.2,ENST00000539194.1,ENST00000508167.1,ENST00000511153.1,ENST00000543373.1,ENST00000510224.1,ENST00000505450.1 |
| exon_skip_428651 | 4 | 16026898:16026935:16034926:16035132:16040568:16040624 | 16034926:16035132 | ENSG00000007062.7 | ENST00000508167.1,ENST00000511153.1,ENST00000543373.1,ENST00000505450.1 |
| exon_skip_428655 | 4 | 16034926:16035132:16037357:16037384:16040568:16040624 | 16037357:16037384 | ENSG00000007062.7 | ENST00000540805.1,ENST00000447510.2,ENST00000539194.1,ENST00000510224.1 |
| exon_skip_428657 | 4 | 16034926:16035132:16040568:16040624:16077309:16077401 | 16040568:16040624 | ENSG00000007062.7 | ENST00000508167.1,ENST00000543373.1,ENST00000505450.1 |
| exon_skip_428659 | 4 | 16040568:16040624:16056859:16057072:16077309:16077401 | 16056859:16057072 | ENSG00000007062.7 | ENST00000511153.1 |
| exon_skip_428661 | 4 | 16040568:16040624:16077309:16077741:16085600:16085668 | 16077309:16077741 | ENSG00000007062.7 | ENST00000543373.1,ENST00000505450.1 |
| exon_skip_428664 | 4 | 16077681:16077741:16078050:16078276:16080943:16081037 | 16078050:16078276 | ENSG00000007062.7 | ENST00000513108.1 |
| exon_skip_428666 | 4 | 16077681:16077741:16078050:16078276:16084144:16084231 | 16078050:16078276 | ENSG00000007062.7 | ENST00000514967.1 |
| exon_skip_428681 | 4 | 16077681:16077741:16083727:16083808:16084854:16085088 | 16083727:16083808 | ENSG00000007062.7 | ENST00000502501.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PROM1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_428630 | 4 | 15972665:15972705:15981017:15981086:15981503:15981527 | 15981017:15981086 | ENSG00000007062.7 | ENST00000447510.2,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1 |
| exon_skip_428632 | 4 | 15972665:15972705:15981503:15981527:15982044:15982160 | 15981503:15981527 | ENSG00000007062.7 | ENST00000503884.1,ENST00000540805.1,ENST00000513946.1 |
| exon_skip_428633 | 4 | 15981017:15981086:15981503:15981527:15982044:15982160 | 15981503:15981527 | ENSG00000007062.7 | ENST00000447510.2,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1 |
| exon_skip_428636 | 4 | 15982044:15982160:15985885:15985978:15987382:15987413 | 15985885:15985978 | ENSG00000007062.7 | ENST00000447510.2,ENST00000540805.1,ENST00000539194.1,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1,ENST00000513946.1,ENST00000543373.1 |
| exon_skip_428640 | 4 | 15989285:15989339:15991354:15991447:15992844:15992916 | 15991354:15991447 | ENSG00000007062.7 | ENST00000447510.2,ENST00000540805.1,ENST00000539194.1,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1,ENST00000543373.1 |
| exon_skip_428645 | 4 | 15992844:15992916:15993870:15994014:15995609:15995694 | 15993870:15994014 | ENSG00000007062.7 | ENST00000447510.2,ENST00000540805.1,ENST00000539194.1,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1,ENST00000543373.1 |
| exon_skip_428649 | 4 | 16017788:16017863:16019945:16020163:16024948:16025038 | 16019945:16020163 | ENSG00000007062.7 | ENST00000447510.2,ENST00000540805.1,ENST00000539194.1,ENST00000505450.1,ENST00000508167.1,ENST00000510224.1,ENST00000543373.1,ENST00000511153.1 |
| exon_skip_428651 | 4 | 16026898:16026935:16034926:16035132:16040568:16040624 | 16034926:16035132 | ENSG00000007062.7 | ENST00000505450.1,ENST00000508167.1,ENST00000543373.1,ENST00000511153.1 |
| exon_skip_428655 | 4 | 16034926:16035132:16037357:16037384:16040568:16040624 | 16037357:16037384 | ENSG00000007062.7 | ENST00000447510.2,ENST00000540805.1,ENST00000539194.1,ENST00000510224.1 |
| exon_skip_428657 | 4 | 16034926:16035132:16040568:16040624:16077309:16077401 | 16040568:16040624 | ENSG00000007062.7 | ENST00000505450.1,ENST00000508167.1,ENST00000543373.1 |
| exon_skip_428659 | 4 | 16040568:16040624:16056859:16057072:16077309:16077401 | 16056859:16057072 | ENSG00000007062.7 | ENST00000511153.1 |
| exon_skip_428664 | 4 | 16077681:16077741:16078050:16078276:16080943:16081037 | 16078050:16078276 | ENSG00000007062.7 | ENST00000513108.1 |
| exon_skip_428666 | 4 | 16077681:16077741:16078050:16078276:16084144:16084231 | 16078050:16078276 | ENSG00000007062.7 | ENST00000514967.1 |
| exon_skip_428681 | 4 | 16077681:16077741:16083727:16083808:16084854:16085088 | 16083727:16083808 | ENSG00000007062.7 | ENST00000502501.1 |
| 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 PROM1 |
| 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 |
| ENST00000447510 | 16019945 | 16020163 | Frame-shift |
| ENST00000510224 | 16019945 | 16020163 | Frame-shift |
| ENST00000447510 | 15981017 | 15981086 | In-frame |
| ENST00000510224 | 15981017 | 15981086 | In-frame |
| ENST00000447510 | 15981503 | 15981527 | In-frame |
| ENST00000510224 | 15981503 | 15981527 | In-frame |
| ENST00000447510 | 15985885 | 15985978 | In-frame |
| ENST00000510224 | 15985885 | 15985978 | In-frame |
| ENST00000447510 | 15991354 | 15991447 | In-frame |
| ENST00000510224 | 15991354 | 15991447 | In-frame |
| ENST00000447510 | 15993870 | 15994014 | In-frame |
| ENST00000510224 | 15993870 | 15994014 | In-frame |
| ENST00000447510 | 16037357 | 16037384 | In-frame |
| ENST00000510224 | 16037357 | 16037384 | 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 |
| ENST00000447510 | 16019945 | 16020163 | Frame-shift |
| ENST00000510224 | 16019945 | 16020163 | Frame-shift |
| ENST00000447510 | 15981017 | 15981086 | In-frame |
| ENST00000510224 | 15981017 | 15981086 | In-frame |
| ENST00000447510 | 15981503 | 15981527 | In-frame |
| ENST00000510224 | 15981503 | 15981527 | In-frame |
| ENST00000447510 | 15985885 | 15985978 | In-frame |
| ENST00000510224 | 15985885 | 15985978 | In-frame |
| ENST00000447510 | 15991354 | 15991447 | In-frame |
| ENST00000510224 | 15991354 | 15991447 | In-frame |
| ENST00000447510 | 15993870 | 15994014 | In-frame |
| ENST00000510224 | 15993870 | 15994014 | In-frame |
| ENST00000447510 | 16037357 | 16037384 | In-frame |
| ENST00000510224 | 16037357 | 16037384 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PROM1 |
| 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 |
| ENST00000447510 | 3994 | 865 | 15993870 | 15994014 | 1980 | 2123 | 589 | 637 |
| ENST00000510224 | 4023 | 865 | 15993870 | 15994014 | 2017 | 2160 | 589 | 637 |
| ENST00000447510 | 3994 | 865 | 15991354 | 15991447 | 2196 | 2288 | 661 | 692 |
| ENST00000510224 | 4023 | 865 | 15991354 | 15991447 | 2233 | 2325 | 661 | 692 |
| ENST00000447510 | 3994 | 865 | 15985885 | 15985978 | 2493 | 2585 | 760 | 791 |
| ENST00000510224 | 4023 | 865 | 15985885 | 15985978 | 2530 | 2622 | 760 | 791 |
| ENST00000447510 | 3994 | 865 | 15981017 | 15981086 | 2726 | 2794 | 838 | 860 |
| ENST00000510224 | 4023 | 865 | 15981017 | 15981086 | 2763 | 2831 | 838 | 860 |
| 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 |
| ENST00000447510 | 3994 | 865 | 15993870 | 15994014 | 1980 | 2123 | 589 | 637 |
| ENST00000510224 | 4023 | 865 | 15993870 | 15994014 | 2017 | 2160 | 589 | 637 |
| ENST00000447510 | 3994 | 865 | 15991354 | 15991447 | 2196 | 2288 | 661 | 692 |
| ENST00000510224 | 4023 | 865 | 15991354 | 15991447 | 2233 | 2325 | 661 | 692 |
| ENST00000447510 | 3994 | 865 | 15985885 | 15985978 | 2493 | 2585 | 760 | 791 |
| ENST00000510224 | 4023 | 865 | 15985885 | 15985978 | 2530 | 2622 | 760 | 791 |
| ENST00000447510 | 3994 | 865 | 15981017 | 15981086 | 2726 | 2794 | 838 | 860 |
| ENST00000510224 | 4023 | 865 | 15981017 | 15981086 | 2763 | 2831 | 838 | 860 |
| 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 |
| O43490 | 589 | 637 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 589 | 637 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 589 | 637 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 589 | 637 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 661 | 692 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 661 | 692 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 661 | 692 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 661 | 692 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 760 | 791 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 760 | 791 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 760 | 791 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 760 | 791 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 838 | 860 | 831 | 861 | Alternative sequence | ID=VSP_040001;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 831 | 861 | Alternative sequence | ID=VSP_040001;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 831 | 839 | Alternative sequence | ID=VSP_040002;Note=In isoform 3. VETIPMKNM->SSWVTSVQC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 831 | 839 | Alternative sequence | ID=VSP_040002;Note=In isoform 3. VETIPMKNM->SSWVTSVQC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 839 | 861 | Alternative sequence | ID=VSP_040003;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 839 | 861 | Alternative sequence | ID=VSP_040003;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 840 | 865 | Alternative sequence | ID=VSP_040004;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 840 | 865 | Alternative sequence | ID=VSP_040004;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 838 | 860 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 838 | 860 | 814 | 865 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 838 | 860 | 814 | 865 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O43490 | 589 | 637 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 589 | 637 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 589 | 637 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 589 | 637 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 661 | 692 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 661 | 692 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 661 | 692 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 661 | 692 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 760 | 791 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 760 | 791 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 760 | 791 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 760 | 791 | 508 | 792 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 838 | 860 | 831 | 861 | Alternative sequence | ID=VSP_040001;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 831 | 861 | Alternative sequence | ID=VSP_040001;Note=In isoform 5 and isoform 6. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 831 | 839 | Alternative sequence | ID=VSP_040002;Note=In isoform 3. VETIPMKNM->SSWVTSVQC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 831 | 839 | Alternative sequence | ID=VSP_040002;Note=In isoform 3. VETIPMKNM->SSWVTSVQC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 839 | 861 | Alternative sequence | ID=VSP_040003;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 839 | 861 | Alternative sequence | ID=VSP_040003;Note=In isoform 4 and isoform 7. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| O43490 | 838 | 860 | 840 | 865 | Alternative sequence | ID=VSP_040004;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 840 | 865 | Alternative sequence | ID=VSP_040004;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
| O43490 | 838 | 860 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 838 | 860 | 20 | 865 | Chain | ID=PRO_0000025813;Note=Prominin-1 |
| O43490 | 838 | 860 | 814 | 865 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O43490 | 838 | 860 | 814 | 865 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PROM1 |
| - 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. |
PROM1_BRCA_exon_skip_428630_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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_428640 | 15991355 | 15991447 | 15991417 | 15991417 | Frame_Shift_Del | T | - | p.R663fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_428651 | 16034927 | 16035132 | 16034987 | 16034987 | Frame_Shift_Del | T | - | p.N141fs |
| BRCA | TCGA-BH-A1FC-01 | exon_skip_428630 | 15981018 | 15981086 | 15981063 | 15981064 | Frame_Shift_Ins | - | A | p.Y846fs |
| LUSC | TCGA-34-5239-01 | exon_skip_428651 | 16034927 | 16035132 | 16035000 | 16035000 | Nonsense_Mutation | G | A | p.R146* |
| SKCM | TCGA-W3-AA1R-06 | exon_skip_428655 | 16037358 | 16037384 | 16037360 | 16037360 | Nonsense_Mutation | T | A | p.K101* |
| UCEC | TCGA-B5-A11R-01 | exon_skip_428661 | 16077310 | 16077741 | 16077474 | 16077474 | Nonsense_Mutation | G | C | p.S19* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BH-A1FC-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_428630 | |
| Skipped exon start: 15981018 | |
| Skipped exon end: 15981086 | |
| Mutation start: 15981063 | |
| Mutation end: 15981064 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: A | |
| AAchange: p.Y846fs | |
exon_skip_428630_BRCA_TCGA-BH-A1FC-01.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 |
| HMY1_SKIN | 15981018 | 15981086 | 15981049 | 15981049 | Missense_Mutation | C | T | p.V851I |
| HUH28_BILIARY_TRACT | 15981018 | 15981086 | 15981049 | 15981049 | Missense_Mutation | C | T | p.V851I |
| HEC108_ENDOMETRIUM | 15985886 | 15985978 | 15985933 | 15985933 | Missense_Mutation | C | G | p.D776H |
| TE11_OESOPHAGUS | 15985886 | 15985978 | 15985972 | 15985972 | Missense_Mutation | C | G | p.E763Q |
| MM127_SKIN | 15991355 | 15991447 | 15991440 | 15991440 | Missense_Mutation | C | T | p.G664E |
| LN18_CENTRAL_NERVOUS_SYSTEM | 15993871 | 15994014 | 15993881 | 15993881 | Missense_Mutation | T | C | p.Y634C |
| LB2241EBV_MATCHED_NORMAL_TISSUE | 15993871 | 15994014 | 15993894 | 15993894 | Missense_Mutation | T | C | p.N630D |
| SNU175_LARGE_INTESTINE | 15993871 | 15994014 | 15993911 | 15993911 | Missense_Mutation | C | T | p.C624Y |
| LS180_LARGE_INTESTINE | 15993871 | 15994014 | 15993945 | 15993945 | Missense_Mutation | C | T | p.A613T |
| SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16019946 | 16020163 | 16019966 | 16019966 | Missense_Mutation | T | C | p.S328G |
| BE2M17_AUTONOMIC_GANGLIA | 16019946 | 16020163 | 16020052 | 16020052 | Missense_Mutation | C | T | p.R299Q |
| C33A_CERVIX | 16019946 | 16020163 | 16020053 | 16020053 | Missense_Mutation | G | A | p.R299W |
| JOPACA1_PANCREAS | 16019946 | 16020163 | 16020053 | 16020053 | Missense_Mutation | G | A | p.R299W |
| HUH1_LIVER | 16034927 | 16035132 | 16035075 | 16035075 | Missense_Mutation | T | A | p.I121F |
| SKUT1_SOFT_TISSUE | 16034927 | 16035132 | 16035099 | 16035099 | Missense_Mutation | A | G | p.C113R |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16034927 | 16035132 | 16035108 | 16035108 | Missense_Mutation | T | C | p.I110V |
| SARC9371_BONE | 16034927 | 16035132 | 16035118 | 16035118 | Missense_Mutation | T | G | p.E106D |
| HEC6_ENDOMETRIUM | 16077310 | 16077741 | 16077325 | 16077325 | Missense_Mutation | G | A | p.R69C |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16077310 | 16077741 | 16077325 | 16077325 | Missense_Mutation | G | A | p.R69C |
| FTC238_THYROID | 16077310 | 16077741 | 16077347 | 16077347 | Missense_Mutation | G | C | p.I61M |
| JHUEM1_ENDOMETRIUM | 16077310 | 16077741 | 16077375 | 16077375 | Missense_Mutation | A | G | p.I52T |
| RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16077310 | 16077741 | 16077391 | 16077391 | Missense_Mutation | G | A | p.H47Y |
| HCC2998_LARGE_INTESTINE | 16077310 | 16077741 | 16077520 | 16077520 | Missense_Mutation | C | T | p.V4I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PROM1 |
| 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 PROM1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PROM1 |
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RelatedDrugs for PROM1 |
| 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 PROM1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PROM1 | C0017636 | Glioblastoma | 3 | CTD_human |
| PROM1 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| PROM1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| PROM1 | C0041696 | Unipolar Depression | 1 | PSYGENET |
| PROM1 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
| PROM1 | C0206627 | Mixed Tumor, Mullerian | 1 | CTD_human |
| PROM1 | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
| PROM1 | C2675210 | CONE-ROD DYSTROPHY 12 (disorder) | 1 | CTD_human;UNIPROT |
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