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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 SGCG |
 Gene summary |
| Gene information | Gene symbol | SGCG | Gene ID | 6445 |
| Gene name | sarcoglycan gamma | |
| Synonyms | 35DAG|A4|DAGA4|DMDA|DMDA1|LGMD2C|MAM|SCARMD2|SCG3|gamma-SG | |
| Cytomap | 13q12.12 | |
| Type of gene | protein-coding | |
| Description | gamma-sarcoglycan35 kDa dystrophin-associated glycoprotein35kD dystrophin-associated glycoproteinsarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) | |
| Modification date | 20180523 | |
| UniProtAcc | Q13326 | |
| Context | PubMed: SGCG [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 SGCG 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 SGCG |
| 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 SGCG |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99373 | 13 | 23755144:23755214:23765385:23765536:23777833:23778028 | 23765385:23765536 | ENSG00000102683.6 | ENST00000545013.1 |
| exon_skip_99376 | 13 | 23824768:23824856:23853497:23853617:23869553:23869626 | 23853497:23853617 | ENSG00000102683.6 | ENST00000537476.1,ENST00000218867.3,ENST00000545013.1 |
| exon_skip_99378 | 13 | 23869553:23869626:23894775:23894899:23898506:23898680 | 23894775:23894899 | ENSG00000102683.6 | ENST00000537476.1,ENST00000218867.3,ENST00000545013.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SGCG |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_99373 | 13 | 23755144:23755214:23765385:23765536:23777833:23778028 | 23765385:23765536 | ENSG00000102683.6 | ENST00000545013.1 |
| exon_skip_99374 | 13 | 23755104:23755214:23771286:23771315:23777833:23778028 | 23771286:23771315 | ENSG00000102683.6 | ENST00000537476.1 |
| exon_skip_99376 | 13 | 23824768:23824856:23853497:23853617:23869553:23869626 | 23853497:23853617 | ENSG00000102683.6 | ENST00000218867.3,ENST00000537476.1,ENST00000545013.1 |
| exon_skip_99378 | 13 | 23869553:23869626:23894775:23894899:23898506:23898680 | 23894775:23894899 | ENSG00000102683.6 | ENST00000218867.3,ENST00000537476.1,ENST00000545013.1 |
| 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 SGCG |
| 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 |
| ENST00000218867 | 23894775 | 23894899 | Frame-shift |
| ENST00000218867 | 23853497 | 23853617 | 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 |
| ENST00000218867 | 23894775 | 23894899 | Frame-shift |
| ENST00000218867 | 23853497 | 23853617 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SGCG |
| 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 |
| ENST00000218867 | 1641 | 291 | 23853497 | 23853617 | 510 | 629 | 128 | 168 |
| 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 |
| ENST00000218867 | 1641 | 291 | 23853497 | 23853617 | 510 | 629 | 128 | 168 |
| 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 |
| Q13326 | 128 | 168 | 1 | 291 | Chain | ID=PRO_0000175248;Note=Gamma-sarcoglycan |
| Q13326 | 128 | 168 | 59 | 291 | Topological domain | Note=Extracellular;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 |
| Q13326 | 128 | 168 | 1 | 291 | Chain | ID=PRO_0000175248;Note=Gamma-sarcoglycan |
| Q13326 | 128 | 168 | 59 | 291 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SGCG |
| - 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-DD-A1EG-01 | exon_skip_99378 | 23894776 | 23894899 | 23894811 | 23894811 | Frame_Shift_Del | C | - | p.A205fs |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_99376 | 23853498 | 23853617 | 23853608 | 23853608 | Nonsense_Mutation | C | T | p.R166* |
| SKCM | TCGA-FS-A4F9-06 | exon_skip_99376 | 23853498 | 23853617 | 23853608 | 23853608 | Nonsense_Mutation | C | T | p.R166X |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_99376 | 23853498 | 23853617 | 23853608 | 23853608 | Nonsense_Mutation | C | T | p.R166* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_99376 | 23853498 | 23853617 | 23853608 | 23853608 | Nonsense_Mutation | C | T | p.R166* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_99376 | 23853498 | 23853617 | 23853608 | 23853608 | Nonsense_Mutation | C | T | p.R166X |
| - 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 |
| OVMIU_OVARY | 23853498 | 23853617 | 23853504 | 23853504 | Missense_Mutation | A | G | p.K131R |
| NCIH1869_LUNG | 23853498 | 23853617 | 23853606 | 23853606 | Missense_Mutation | T | G | p.L165R |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 23894776 | 23894899 | 23894856 | 23894856 | Missense_Mutation | C | T | p.A220V |
| HCC2998_LARGE_INTESTINE | 23894776 | 23894899 | 23894879 | 23894879 | Missense_Mutation | T | G | p.F228V |
| HEC251_ENDOMETRIUM | 23894776 | 23894899 | 23894880 | 23894880 | Missense_Mutation | T | G | p.F228C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SGCG |
| 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 SGCG |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SGCG |
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RelatedDrugs for SGCG |
| 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 SGCG |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SGCG | C0410173 | Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| SGCG | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
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