|
||||||
|
 | |
| |
| |
| |
| 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 BLOC1S2 |
 Gene summary |
| Gene information | Gene symbol | BLOC1S2 | Gene ID | 282991 |
| Gene name | biogenesis of lysosomal organelles complex 1 subunit 2 | |
| Synonyms | BLOS2|BORCS2|CEAP|CEAP11 | |
| Cytomap | 10q24.31 | |
| Type of gene | protein-coding | |
| Description | biogenesis of lysosome-related organelles complex 1 subunit 211 kDa centrosome associated proteinBLOC-1 subunit 2centrosomal 10 kDa proteincentrosome protein oncogene | |
| Modification date | 20180519 | |
| UniProtAcc | Q6QNY1 | |
| Context | PubMed: BLOC1S2 [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 |
| BLOC1S2 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 18188704 |
| BLOC1S2 | GO:0097345 | mitochondrial outer membrane permeabilization | 18188704 |
Top |
Exon skipping events across known transcript of Ensembl for BLOC1S2 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 BLOC1S2 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for BLOC1S2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53125 | 10 | 102039880:102039985:102040690:102040810:102045853:102045905 | 102040690:102040810 | ENSG00000196072.7 | ENST00000579542.1,ENST00000370372.2 |
| exon_skip_53129 | 10 | 102040690:102040810:102045853:102045970:102046361:102046430 | 102045853:102045970 | ENSG00000196072.7 | ENST00000370372.2 |
| exon_skip_53130 | 10 | 102040690:102040810:102045853:102046089:102046361:102046430 | 102045853:102046089 | ENSG00000196072.7 | ENST00000361832.2 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for BLOC1S2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_53125 | 10 | 102039880:102039985:102040690:102040810:102045853:102045905 | 102040690:102040810 | ENSG00000196072.7 | ENST00000370372.2,ENST00000579542.1 |
| exon_skip_53129 | 10 | 102040690:102040810:102045853:102045970:102046361:102046430 | 102045853:102045970 | ENSG00000196072.7 | ENST00000370372.2 |
| exon_skip_53130 | 10 | 102040690:102040810:102045853:102046089:102046361:102046430 | 102045853:102046089 | ENSG00000196072.7 | ENST00000361832.2 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for BLOC1S2 |
| 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 |
| ENST00000370372 | 102040690 | 102040810 | In-frame |
| ENST00000370372 | 102045853 | 102045970 | 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 |
| ENST00000370372 | 102040690 | 102040810 | In-frame |
| ENST00000370372 | 102045853 | 102045970 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for BLOC1S2 |
| 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 |
| ENST00000370372 | 1266 | 142 | 102045853 | 102045970 | 109 | 225 | 18 | 57 |
| ENST00000370372 | 1266 | 142 | 102040690 | 102040810 | 226 | 345 | 57 | 97 |
| 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 |
| ENST00000370372 | 1266 | 142 | 102045853 | 102045970 | 109 | 225 | 18 | 57 |
| ENST00000370372 | 1266 | 142 | 102040690 | 102040810 | 226 | 345 | 57 | 97 |
| 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 |
| Q6QNY1 | 18 | 57 | 1 | 43 | Alternative sequence | ID=VSP_018350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15381421;Dbxref=PMID:15381421 |
| Q6QNY1 | 18 | 57 | 2 | 142 | Chain | ID=PRO_0000234543;Note=Biogenesis of lysosome-related organelles complex 1 subunit 2 |
| Q6QNY1 | 57 | 97 | 2 | 142 | Chain | ID=PRO_0000234543;Note=Biogenesis of lysosome-related organelles complex 1 subunit 2 |
| Q6QNY1 | 57 | 97 | 79 | 127 | Coiled coil | 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 |
| Q6QNY1 | 18 | 57 | 1 | 43 | Alternative sequence | ID=VSP_018350;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15381421;Dbxref=PMID:15381421 |
| Q6QNY1 | 18 | 57 | 2 | 142 | Chain | ID=PRO_0000234543;Note=Biogenesis of lysosome-related organelles complex 1 subunit 2 |
| Q6QNY1 | 57 | 97 | 2 | 142 | Chain | ID=PRO_0000234543;Note=Biogenesis of lysosome-related organelles complex 1 subunit 2 |
| Q6QNY1 | 57 | 97 | 79 | 127 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for BLOC1S2 |
| - 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. |
| - 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 |
| - 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 |
| HEC1B_ENDOMETRIUM | 102040691 | 102040810 | 102040756 | 102040756 | Missense_Mutation | T | C | p.K76R |
| HCC515_LUNG | 102045854 | 102046089 | 102045934 | 102045934 | Missense_Mutation | T | A | p.E31V |
| HCC515_LUNG | 102045854 | 102045970 | 102045934 | 102045934 | Missense_Mutation | T | A | p.E31V |
| EN_ENDOMETRIUM | 102040691 | 102040810 | 102040692 | 102040692 | Splice_Site | T | C | p.K97K |
| HCC1569_BREAST | 102040691 | 102040810 | 102040809 | 102040809 | Splice_Site | G | T | p.A58A |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BLOC1S2 |
| 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 BLOC1S2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BLOC1S2 |
Top |
RelatedDrugs for BLOC1S2 |
| 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 BLOC1S2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BLOC1S2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|