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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 SACS |
 Gene summary |
| Gene information | Gene symbol | SACS | Gene ID | 26278 |
| Gene name | sacsin molecular chaperone | |
| Synonyms | ARSACS|DNAJC29|PPP1R138|SPAX6 | |
| Cytomap | 13q12.12 | |
| Type of gene | protein-coding | |
| Description | sacsindnaJ homolog subfamily C member 29protein phosphatase 1, regulatory subunit 138spastic ataxia of Charlevoix-Saguenay (sacsin) | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NZJ4 | |
| Context | PubMed: SACS [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 SACS 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 SACS |
| 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 SACS |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102457 | 13 | 23902968:23903623:23915583:23915829:23927923:23928015 | 23915583:23915829 | ENSG00000151835.9 | ENST00000455470.1 |
| exon_skip_102461 | 13 | 23928657:23930146:23932473:23932620:23939304:23939416 | 23932473:23932620 | ENSG00000151835.9 | ENST00000382292.3,ENST00000402364.1,ENST00000455470.1,ENST00000382298.3 |
| exon_skip_102463 | 13 | 23942540:23942626:23945216:23945304:23949257:23949408 | 23945216:23945304 | ENSG00000151835.9 | ENST00000382292.3,ENST00000382298.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SACS |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_102457 | 13 | 23902968:23903623:23915583:23915829:23927923:23928015 | 23915583:23915829 | ENSG00000151835.9 | ENST00000455470.1 |
| exon_skip_102461 | 13 | 23928657:23930146:23932473:23932620:23939304:23939416 | 23932473:23932620 | ENSG00000151835.9 | ENST00000402364.1,ENST00000382292.3,ENST00000382298.3,ENST00000455470.1 |
| exon_skip_102463 | 13 | 23942540:23942626:23945216:23945304:23949257:23949408 | 23945216:23945304 | ENSG00000151835.9 | ENST00000382292.3,ENST00000382298.3 |
| 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 SACS |
| 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 |
| ENST00000382292 | 23945216 | 23945304 | Frame-shift |
| ENST00000382292 | 23932473 | 23932620 | 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 |
| ENST00000382292 | 23945216 | 23945304 | Frame-shift |
| ENST00000382292 | 23932473 | 23932620 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SACS |
| 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 |
| ENST00000382292 | 15341 | 4579 | 23932473 | 23932620 | 732 | 878 | 152 | 201 |
| 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 |
| ENST00000382292 | 15341 | 4579 | 23932473 | 23932620 | 732 | 878 | 152 | 201 |
| 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 |
| Q9NZJ4 | 152 | 201 | 1 | 750 | Alternative sequence | ID=VSP_022325;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NZJ4 | 152 | 201 | 155 | 162 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 175 | 177 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V46 |
| Q9NZJ4 | 152 | 201 | 1 | 4579 | Chain | ID=PRO_0000097563;Note=Sacsin |
| Q9NZJ4 | 152 | 201 | 166 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 193 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 168 | 168 | Natural variant | ID=VAR_064801;Note=In SACS. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18465152;Dbxref=PMID:18465152 |
| Q9NZJ4 | 152 | 201 | 201 | 201 | Natural variant | ID=VAR_064802;Note=In SACS. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20876471;Dbxref=PMID:20876471 |
| 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 |
| Q9NZJ4 | 152 | 201 | 1 | 750 | Alternative sequence | ID=VSP_022325;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NZJ4 | 152 | 201 | 155 | 162 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 175 | 177 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V46 |
| Q9NZJ4 | 152 | 201 | 1 | 4579 | Chain | ID=PRO_0000097563;Note=Sacsin |
| Q9NZJ4 | 152 | 201 | 166 | 172 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 193 | 199 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V44 |
| Q9NZJ4 | 152 | 201 | 168 | 168 | Natural variant | ID=VAR_064801;Note=In SACS. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18465152;Dbxref=PMID:18465152 |
| Q9NZJ4 | 152 | 201 | 201 | 201 | Natural variant | ID=VAR_064802;Note=In SACS. T->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20876471;Dbxref=PMID:20876471 |
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SNVs in the skipped exons for SACS |
| - 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_102457 | 23915584 | 23915829 | 23915694 | 23915694 | Frame_Shift_Del | G | - | p.P774fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_102461 | 23932474 | 23932620 | 23932536 | 23932536 | Frame_Shift_Del | T | - | p.K181fs |
| UCEC | TCGA-AX-A05Z-01 | exon_skip_102461 | 23932474 | 23932620 | 23932558 | 23932558 | Nonsense_Mutation | C | A | p.E174* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_102461 | 23932474 | 23932620 | 23932558 | 23932558 | Nonsense_Mutation | C | A | p.E174* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_102461 | 23932474 | 23932620 | 23932558 | 23932558 | Nonsense_Mutation | C | A | p.E174X |
| - 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 |
| MFE319_ENDOMETRIUM | 23915584 | 23915829 | 23915644 | 23915644 | Frame_Shift_Del | A | - | p.S791fs |
| OVK18_OVARY | 23915584 | 23915829 | 23915644 | 23915644 | Frame_Shift_Del | A | - | p.S791fs |
| NCIH1155_LUNG | 23915584 | 23915829 | 23915619 | 23915619 | Missense_Mutation | T | A | p.E799V |
| 647V_URINARY_TRACT | 23915584 | 23915829 | 23915753 | 23915753 | Missense_Mutation | G | C | p.F754L |
| HCC2998_LARGE_INTESTINE | 23915584 | 23915829 | 23915782 | 23915782 | Missense_Mutation | G | A | p.R745C |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23932474 | 23932620 | 23932545 | 23932545 | Missense_Mutation | C | T | p.S178N |
| SNU1040_LARGE_INTESTINE | 23932474 | 23932620 | 23932560 | 23932560 | Missense_Mutation | T | C | p.Q173R |
| SNU175_LARGE_INTESTINE | 23932474 | 23932620 | 23932567 | 23932567 | Missense_Mutation | C | T | p.G171S |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23932474 | 23932620 | 23932615 | 23932615 | Missense_Mutation | C | T | p.A155T |
| MEWO_SKIN | 23945217 | 23945304 | 23945228 | 23945228 | Missense_Mutation | A | G | p.L83S |
| SNU1040_LARGE_INTESTINE | 23945217 | 23945304 | 23945218 | 23945218 | Splice_Site | T | C | p.G86G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SACS |
| 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 SACS |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SACS |
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RelatedDrugs for SACS |
| 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 SACS |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SACS | C1849140 | SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE | 11 | CTD_human;ORPHANET;UNIPROT |
| SACS | C0751778 | Myoclonic Epilepsies, Progressive | 1 | CTD_human |
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