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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 SORCS1 |
 Gene summary |
| Gene information | Gene symbol | SORCS1 | Gene ID | 114815 |
| Gene name | sortilin related VPS10 domain containing receptor 1 | |
| Synonyms | hSorCS | |
| Cytomap | 10q25.1 | |
| Type of gene | protein-coding | |
| Description | VPS10 domain-containing receptor SorCS1VPS10 domain receptor protein SORCS 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8WY21 | |
| Context | PubMed: SORCS1 [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 SORCS1 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 SORCS1 |
| 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 SORCS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54035 | 10 | 108336963:108337043:108338848:108339009:108339126:108339232 | 108338848:108339009 | ENSG00000108018.11 | ENST00000344440.6,ENST00000452214.1 |
| exon_skip_54036 | 10 | 108336939:108337313:108338848:108339009:108339126:108339232 | 108338848:108339009 | ENSG00000108018.11 | ENST00000369698.1 |
| exon_skip_54039 | 10 | 108357108:108357208:108366923:108367055:108371668:108371745 | 108366923:108367055 | ENSG00000108018.11 | ENST00000344440.6,ENST00000369698.1,ENST00000452214.1,ENST00000263054.6 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SORCS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54035 | 10 | 108336963:108337043:108338848:108339009:108339126:108339232 | 108338848:108339009 | ENSG00000108018.11 | ENST00000452214.1,ENST00000344440.6 |
| exon_skip_54036 | 10 | 108336939:108337313:108338848:108339009:108339126:108339232 | 108338848:108339009 | ENSG00000108018.11 | ENST00000369698.1 |
| exon_skip_54039 | 10 | 108357108:108357208:108366923:108367055:108371668:108371745 | 108366923:108367055 | ENSG00000108018.11 | ENST00000263054.6,ENST00000369698.1,ENST00000452214.1,ENST00000344440.6 |
| 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 SORCS1 |
| 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 |
| ENST00000263054 | 108366923 | 108367055 | 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 |
| ENST00000263054 | 108366923 | 108367055 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SORCS1 |
| 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 |
| ENST00000263054 | 7289 | 1168 | 108366923 | 108367055 | 3042 | 3173 | 1011 | 1055 |
| 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 |
| ENST00000263054 | 7289 | 1168 | 108366923 | 108367055 | 3042 | 3173 | 1011 | 1055 |
| 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 |
| 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 |
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SNVs in the skipped exons for SORCS1 |
| - 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 |
| UCS | TCGA-N8-A4PP-01 | exon_skip_54039 | 108366924 | 108367055 | 108366950 | 108366950 | Nonsense_Mutation | T | A | p.K1047* |
| UCS | TCGA-N8-A4PP-01 | exon_skip_54039 | 108366924 | 108367055 | 108366950 | 108366950 | Nonsense_Mutation | T | A | p.K1047X |
| LUAD | TCGA-44-7662-01 | exon_skip_54039 | 108366924 | 108367055 | 108366923 | 108366923 | Splice_Site | C | A | p.Q1055_splice |
| - 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 |
| SW837_LARGE_INTESTINE | 108366924 | 108367055 | 108366961 | 108366961 | Missense_Mutation | G | T | p.A1043D |
| HS606T_FIBROBLAST | 108366924 | 108367055 | 108366964 | 108366964 | Missense_Mutation | G | C | p.P1042R |
| RAMOS2G64C10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 108366924 | 108367055 | 108366967 | 108366967 | Missense_Mutation | T | C | p.D1041G |
| HCC366_LUNG | 108366924 | 108367055 | 108366943 | 108366943 | Nonsense_Mutation | G | T | p.S1049* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SORCS1 |
| 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 SORCS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SORCS1 |
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RelatedDrugs for SORCS1 |
| 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 SORCS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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