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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 ALS2CR12 |
 Gene summary |
| Gene information | Gene symbol | ALS2CR12 | Gene ID | 130540 |
| Gene name | amyotrophic lateral sclerosis 2 chromosome region 12 | |
| Synonyms | - | |
| Cytomap | 2q33.1 | |
| Type of gene | protein-coding | |
| Description | amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 proteinamyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12amyotrophic lateral sclerosis 2 chromosome region candidate 12 | |
| Modification date | 20180519 | |
| UniProtAcc | Q96Q35 | |
| Context | PubMed: ALS2CR12 [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 ALS2CR12 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 ALS2CR12 |
| 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 ALS2CR12 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346048 | 2 | 202153273:202153504:202154179:202154289:202154418:202154445 | 202154179:202154289 | ENSG00000155749.8 | ENST00000286190.5,ENST00000494171.1,ENST00000405148.2,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346049 | 2 | 202154418:202154508:202163960:202164023:202172241:202172345 | 202163960:202164023 | ENSG00000155749.8 | ENST00000415745.1,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346050 | 2 | 202195192:202195245:202195458:202195556:202207092:202207154 | 202195458:202195556 | ENSG00000155749.8 | ENST00000286190.5,ENST00000405148.2,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346051 | 2 | 202195458:202195556:202207092:202207154:202208892:202208986 | 202207092:202207154 | ENSG00000155749.8 | ENST00000286190.5,ENST00000405148.2,ENST00000392257.3,ENST00000439709.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALS2CR12 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_346047 | 2 | 202153273:202153504:202154153:202154289:202154418:202154445 | 202154153:202154289 | ENSG00000155749.8 | ENST00000494223.1 |
| exon_skip_346048 | 2 | 202153273:202153504:202154179:202154289:202154418:202154445 | 202154179:202154289 | ENSG00000155749.8 | ENST00000286190.5,ENST00000405148.2,ENST00000494171.1,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346049 | 2 | 202154418:202154508:202163960:202164023:202172241:202172345 | 202163960:202164023 | ENSG00000155749.8 | ENST00000415745.1,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346050 | 2 | 202195192:202195245:202195458:202195556:202207092:202207154 | 202195458:202195556 | ENSG00000155749.8 | ENST00000286190.5,ENST00000405148.2,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346051 | 2 | 202195458:202195556:202207092:202207154:202208892:202208986 | 202207092:202207154 | ENSG00000155749.8 | ENST00000286190.5,ENST00000405148.2,ENST00000392257.3,ENST00000439709.1 |
| exon_skip_346052 | 2 | 202195458:202195556:202208892:202208986:202211264:202211394 | 202208892:202208986 | ENSG00000155749.8 | ENST00000494171.1 |
| 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 ALS2CR12 |
| 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 |
| ENST00000286190 | 202154179 | 202154289 | Frame-shift |
| ENST00000405148 | 202154179 | 202154289 | Frame-shift |
| ENST00000286190 | 202195458 | 202195556 | Frame-shift |
| ENST00000405148 | 202195458 | 202195556 | Frame-shift |
| ENST00000286190 | 202207092 | 202207154 | Frame-shift |
| ENST00000405148 | 202207092 | 202207154 | Frame-shift |
| 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 |
| ENST00000286190 | 202154179 | 202154289 | Frame-shift |
| ENST00000405148 | 202154179 | 202154289 | Frame-shift |
| ENST00000286190 | 202195458 | 202195556 | Frame-shift |
| ENST00000405148 | 202195458 | 202195556 | Frame-shift |
| ENST00000286190 | 202207092 | 202207154 | Frame-shift |
| ENST00000405148 | 202207092 | 202207154 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for ALS2CR12 |
| 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 |
| 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 |
| 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 ALS2CR12 |
| - 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-ND-A4WC-01 | exon_skip_346048 | 202154180 | 202154289 | 202154232 | 202154232 | Nonsense_Mutation | C | A | p.E387* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_346048 | 202154180 | 202154289 | 202154232 | 202154232 | Nonsense_Mutation | C | A | p.E387X |
| - 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 | 202154180 | 202154289 | 202154184 | 202154184 | Missense_Mutation | G | T | p.L403M |
| HS606T_FIBROBLAST | 202154180 | 202154289 | 202154198 | 202154198 | Missense_Mutation | T | G | p.E398A |
| D245MG_CENTRAL_NERVOUS_SYSTEM | 202154180 | 202154289 | 202154232 | 202154232 | Missense_Mutation | C | T | p.E387K |
| NBSUSSR_AUTONOMIC_GANGLIA | 202163961 | 202164023 | 202163963 | 202163963 | Missense_Mutation | C | T | p.E314K |
| NCIH2291_LUNG | 202195459 | 202195556 | 202195459 | 202195459 | Splice_Site | C | T | p.E208K |
| HEC151_ENDOMETRIUM | 202207093 | 202207154 | 202207093 | 202207093 | Splice_Site | C | A | p.R175M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALS2CR12 |
| 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 ALS2CR12 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALS2CR12 |
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RelatedDrugs for ALS2CR12 |
| 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 ALS2CR12 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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