|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for MBTPS1 |
 Gene summary |
| Gene information | Gene symbol | MBTPS1 | Gene ID | 8720 |
| Gene name | membrane bound transcription factor peptidase, site 1 | |
| Synonyms | PCSK8|S1P|SKI-1 | |
| Cytomap | 16q23.3-q24.1 | |
| Type of gene | protein-coding | |
| Description | membrane-bound transcription factor site-1 proteaseendopeptidase S1Pproprotein convertase subtilisin/kexin type 8site-1 proteasesubtilisin/kexin isozyme-1 | |
| Modification date | 20180522 | |
| UniProtAcc | Q14703 | |
| Context | PubMed: MBTPS1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for MBTPS1 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. |
 |
Top |
Gene isoform structures and expression levels for MBTPS1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MBTPS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146492 | 16 | 84092906:84093033:84094286:84094418:84096909:84097050 | 84094286:84094418 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146495 | 16 | 84099294:84099372:84100093:84100218:84101271:84101428 | 84100093:84100218 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146497 | 16 | 84103623:84103643:84104192:84104381:84108201:84108346 | 84104192:84104381 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146500 | 16 | 84104368:84104381:84108201:84108346:84115351:84115513 | 84108201:84108346 | ENSG00000140943.12 | ENST00000343411.3,ENST00000563231.1 |
| exon_skip_146507 | 16 | 84115356:84115513:84118587:84118739:84120962:84121065 | 84118587:84118739 | ENSG00000140943.12 | ENST00000569770.1,ENST00000343411.3,ENST00000565863.1 |
| exon_skip_146508 | 16 | 84115351:84115513:84120962:84121065:84124479:84124525 | 84120962:84121065 | ENSG00000140943.12 | ENST00000563231.1 |
| exon_skip_146511 | 16 | 84120962:84121065:84124479:84124547:84125336:84125391 | 84124479:84124547 | ENSG00000140943.12 | ENST00000569770.1,ENST00000570012.1,ENST00000343411.3,ENST00000563231.1 |
| exon_skip_146512 | 16 | 84125336:84125453:84126792:84126902:84127315:84127426 | 84126792:84126902 | ENSG00000140943.12 | ENST00000343411.3 |
| exon_skip_146514 | 16 | 84129206:84129410:84132657:84132915:84135225:84135712 | 84132657:84132915 | ENSG00000140943.12 | ENST00000343411.3 |
| exon_skip_146517 | 16 | 84135670:84135712:84143060:84143188:84144317:84144430 | 84143060:84143188 | ENSG00000140943.12 | ENST00000564444.1 |
| exon_skip_146519 | 16 | 84135670:84135712:84144317:84144430:84150339:84150400 | 84144317:84144430 | ENSG00000140943.12 | ENST00000569907.1 |
| exon_skip_146520 | 16 | 84135670:84135712:84144317:84144458:84150339:84150400 | 84144317:84144458 | ENSG00000140943.12 | ENST00000567557.1 |
| exon_skip_146521 | 16 | 84143060:84143188:84144317:84144430:84150339:84150400 | 84144317:84144430 | ENSG00000140943.12 | ENST00000564444.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MBTPS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_146492 | 16 | 84092906:84093033:84094286:84094418:84096909:84097050 | 84094286:84094418 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146495 | 16 | 84099294:84099372:84100093:84100218:84101271:84101428 | 84100093:84100218 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146497 | 16 | 84103623:84103643:84104192:84104381:84108201:84108346 | 84104192:84104381 | ENSG00000140943.12 | ENST00000570064.1,ENST00000343411.3 |
| exon_skip_146500 | 16 | 84104368:84104381:84108201:84108346:84115351:84115513 | 84108201:84108346 | ENSG00000140943.12 | ENST00000343411.3,ENST00000563231.1 |
| exon_skip_146507 | 16 | 84115356:84115513:84118587:84118739:84120962:84121065 | 84118587:84118739 | ENSG00000140943.12 | ENST00000343411.3,ENST00000569770.1,ENST00000565863.1 |
| exon_skip_146508 | 16 | 84115351:84115513:84120962:84121065:84124479:84124525 | 84120962:84121065 | ENSG00000140943.12 | ENST00000563231.1 |
| exon_skip_146511 | 16 | 84120962:84121065:84124479:84124547:84125336:84125391 | 84124479:84124547 | ENSG00000140943.12 | ENST00000343411.3,ENST00000569770.1,ENST00000563231.1,ENST00000570012.1 |
| exon_skip_146512 | 16 | 84125336:84125453:84126792:84126902:84127315:84127426 | 84126792:84126902 | ENSG00000140943.12 | ENST00000343411.3 |
| exon_skip_146514 | 16 | 84129206:84129410:84132657:84132915:84135225:84135712 | 84132657:84132915 | ENSG00000140943.12 | ENST00000343411.3 |
| exon_skip_146517 | 16 | 84135670:84135712:84143060:84143188:84144317:84144430 | 84143060:84143188 | ENSG00000140943.12 | ENST00000564444.1 |
| exon_skip_146519 | 16 | 84135670:84135712:84144317:84144430:84150339:84150400 | 84144317:84144430 | ENSG00000140943.12 | ENST00000569907.1 |
| exon_skip_146520 | 16 | 84135670:84135712:84144317:84144458:84150339:84150400 | 84144317:84144458 | ENSG00000140943.12 | ENST00000567557.1 |
| exon_skip_146521 | 16 | 84143060:84143188:84144317:84144430:84150339:84150400 | 84144317:84144430 | ENSG00000140943.12 | ENST00000564444.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MBTPS1 |
| 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 |
| ENST00000343411 | 84100093 | 84100218 | Frame-shift |
| ENST00000343411 | 84108201 | 84108346 | Frame-shift |
| ENST00000343411 | 84118587 | 84118739 | Frame-shift |
| ENST00000343411 | 84124479 | 84124547 | Frame-shift |
| ENST00000343411 | 84126792 | 84126902 | Frame-shift |
| ENST00000343411 | 84094286 | 84094418 | In-frame |
| ENST00000343411 | 84104192 | 84104381 | In-frame |
| ENST00000343411 | 84132657 | 84132915 | 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 |
| ENST00000343411 | 84100093 | 84100218 | Frame-shift |
| ENST00000343411 | 84108201 | 84108346 | Frame-shift |
| ENST00000343411 | 84118587 | 84118739 | Frame-shift |
| ENST00000343411 | 84124479 | 84124547 | Frame-shift |
| ENST00000343411 | 84126792 | 84126902 | Frame-shift |
| ENST00000343411 | 84094286 | 84094418 | In-frame |
| ENST00000343411 | 84104192 | 84104381 | In-frame |
| ENST00000343411 | 84132657 | 84132915 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MBTPS1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000343411 | 4355 | 1052 | 84132657 | 84132915 | 660 | 917 | 54 | 140 |
| ENST00000343411 | 4355 | 1052 | 84104192 | 84104381 | 2090 | 2278 | 531 | 594 |
| ENST00000343411 | 4355 | 1052 | 84094286 | 84094418 | 3069 | 3200 | 857 | 901 |
| 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 |
| ENST00000343411 | 4355 | 1052 | 84132657 | 84132915 | 660 | 917 | 54 | 140 |
| ENST00000343411 | 4355 | 1052 | 84104192 | 84104381 | 2090 | 2278 | 531 | 594 |
| ENST00000343411 | 4355 | 1052 | 84094286 | 84094418 | 3069 | 3200 | 857 | 901 |
| 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 |
| Q14703 | 54 | 140 | 90 | 90 | Natural variant | ID=VAR_051823;Note=R->G;Dbxref=dbSNP:rs34076105 |
| Q14703 | 54 | 140 | 18 | 186 | Propeptide | ID=PRO_0000027051 |
| Q14703 | 531 | 594 | 187 | 1052 | Chain | ID=PRO_0000027052;Note=Membrane-bound transcription factor site-1 protease |
| Q14703 | 531 | 594 | 187 | 998 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14703 | 857 | 901 | 187 | 1052 | Chain | ID=PRO_0000027052;Note=Membrane-bound transcription factor site-1 protease |
| Q14703 | 857 | 901 | 187 | 998 | Topological domain | Note=Lumenal;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 |
| Q14703 | 54 | 140 | 90 | 90 | Natural variant | ID=VAR_051823;Note=R->G;Dbxref=dbSNP:rs34076105 |
| Q14703 | 54 | 140 | 18 | 186 | Propeptide | ID=PRO_0000027051 |
| Q14703 | 531 | 594 | 187 | 1052 | Chain | ID=PRO_0000027052;Note=Membrane-bound transcription factor site-1 protease |
| Q14703 | 531 | 594 | 187 | 998 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14703 | 857 | 901 | 187 | 1052 | Chain | ID=PRO_0000027052;Note=Membrane-bound transcription factor site-1 protease |
| Q14703 | 857 | 901 | 187 | 998 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for MBTPS1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
MBTPS1_LIHC_exon_skip_146507_psi_boxplot.png |
MBTPS1_THCA_exon_skip_146507_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-G3-A3CJ-01 | exon_skip_146507 | 84118588 | 84118739 | 84118656 | 84118656 | Frame_Shift_Del | C | - | p.C407fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_146507 | 84118588 | 84118739 | 84118656 | 84118656 | Frame_Shift_Del | C | - | p.G406fs |
| UCEC | TCGA-D1-A17D-01 | exon_skip_146507 | 84118588 | 84118739 | 84118656 | 84118656 | Frame_Shift_Del | C | - | p.G406fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_146514 | 84132658 | 84132915 | 84132740 | 84132740 | Frame_Shift_Del | C | - | p.G113fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_146514 | 84132658 | 84132915 | 84132758 | 84132758 | Frame_Shift_Del | T | - | p.K107fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_146507 | 84118588 | 84118739 | 84118655 | 84118656 | Frame_Shift_Ins | - | C | p.P407fs |
| HNSC | TCGA-CV-A465-01 | exon_skip_146514 | 84132658 | 84132915 | 84132827 | 84132828 | Frame_Shift_Ins | - | T | p.M84fs |
| BLCA | TCGA-4Z-AA7W-01 | exon_skip_146507 | 84118588 | 84118739 | 84118642 | 84118642 | Nonsense_Mutation | G | C | p.S411* |
| BLCA | TCGA-C4-A0EZ-01 | exon_skip_146507 | 84118588 | 84118739 | 84118642 | 84118642 | Nonsense_Mutation | G | C | p.S411* |
| THCA | TCGA-BJ-A28R-01 | exon_skip_146507 | 84118588 | 84118739 | 84118642 | 84118642 | Nonsense_Mutation | G | C | p.S411* |
| ESCA | TCGA-LN-A8HZ-01 | exon_skip_146514 | 84132658 | 84132915 | 84132766 | 84132766 | Nonsense_Mutation | G | A | p.Q105X |
| COAD | TCGA-AA-A00W-01 | exon_skip_146514 | 84132658 | 84132915 | 84132811 | 84132811 | Nonsense_Mutation | G | A | p.R90X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BJ-A28R-01 |
| Cancer type: THCA | |
| ESID: exon_skip_146507 | |
| Skipped exon start: 84118588 | |
| Skipped exon end: 84118739 | |
| Mutation start: 84118642 | |
| Mutation end: 84118642 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: C | |
| AAchange: p.S411* | |
exon_skip_146507_THCA_TCGA-BJ-A28R-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 |
| OE19_OESOPHAGUS | 84094287 | 84094418 | 84094347 | 84094347 | Frame_Shift_Del | A | - | p.S882fs |
| HEC108_ENDOMETRIUM | 84118588 | 84118739 | 84118656 | 84118656 | Frame_Shift_Del | C | - | p.G406fs |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 84094287 | 84094418 | 84094331 | 84094331 | Missense_Mutation | C | T | p.R887H |
| OVMANA_OVARY | 84094287 | 84094418 | 84094415 | 84094415 | Missense_Mutation | C | G | p.C859S |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 84100094 | 84100218 | 84100196 | 84100196 | Missense_Mutation | C | T | p.G751R |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 84100094 | 84100218 | 84100196 | 84100196 | Missense_Mutation | C | T | p.G751R |
| CCK81_LARGE_INTESTINE | 84100094 | 84100218 | 84100204 | 84100204 | Missense_Mutation | G | A | p.P748L |
| NCIH847_LUNG | 84104193 | 84104381 | 84104197 | 84104197 | Missense_Mutation | G | T | p.T593K |
| SW684_SOFT_TISSUE | 84104193 | 84104381 | 84104306 | 84104306 | Missense_Mutation | G | A | p.P557S |
| NCIH747_LARGE_INTESTINE | 84108202 | 84108346 | 84108218 | 84108218 | Missense_Mutation | C | G | p.G526A |
| JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 84118588 | 84118739 | 84118642 | 84118642 | Missense_Mutation | G | A | p.S411L |
| NCIH1417_LUNG | 84124480 | 84124547 | 84124519 | 84124519 | Missense_Mutation | A | G | p.I331T |
| 8305C_THYROID | 84126793 | 84126902 | 84126864 | 84126864 | Missense_Mutation | T | C | p.S259G |
| SNU175_LARGE_INTESTINE | 84132658 | 84132915 | 84132744 | 84132744 | Missense_Mutation | G | A | p.A112V |
| HEC251_ENDOMETRIUM | 84132658 | 84132915 | 84132817 | 84132817 | Missense_Mutation | T | G | p.I88L |
| NTERA2CLD1_TESTIS | 84132658 | 84132915 | 84132862 | 84132862 | Missense_Mutation | T | A | p.I73F |
| DMS454_LUNG | 84094287 | 84094418 | 84094320 | 84094320 | Nonsense_Mutation | C | A | p.G891* |
| EN_ENDOMETRIUM | 84124480 | 84124547 | 84124547 | 84124547 | Splice_Site | C | T | p.V322M |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MBTPS1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MBTPS1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MBTPS1 |
Top |
RelatedDrugs for MBTPS1 |
| 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 |
Top |
RelatedDiseases for MBTPS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MBTPS1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
| MBTPS1 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| MBTPS1 | C2239176 | Liver carcinoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|