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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 ALS2CL |
Gene summary |
| Gene information | Gene symbol | ALS2CL | Gene ID | 259173 |
| Gene name | ALS2 C-terminal like | |
| Synonyms | RN49018 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | ALS2 C-terminal-like protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q60I27 | |
| Context | PubMed: ALS2CL [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 ALS2CL 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 ALS2CL |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for ALS2CL |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382885 | 3 | 46712977:46713074:46713373:46713523:46713629:46713691 | 46713373:46713523 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000486301.1,ENST00000450172.1 |
| exon_skip_382887 | 3 | 46713373:46713523:46713629:46713691:46714828:46714871 | 46713629:46713691 | ENSG00000178038.12 | ENST00000473484.1,ENST00000498817.1,ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000486301.1,ENST00000450172.1 |
| exon_skip_382890 | 3 | 46714828:46714871:46716055:46716229:46717107:46717176 | 46716055:46716229 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000383742.3 |
| exon_skip_382911 | 3 | 46716055:46716229:46717107:46717176:46717734:46717892 | 46717107:46717176 | ENSG00000178038.12 | ENST00000415953.1,ENST00000318962.4,ENST00000383742.3 |
| exon_skip_382913 | 3 | 46716055:46716229:46717107:46717466:46717734:46717892 | 46717107:46717466 | ENSG00000178038.12 | ENST00000434140.1 |
| exon_skip_382927 | 3 | 46717772:46717892:46718131:46718228:46718338:46718512 | 46718131:46718228 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000383742.3,ENST00000450172.1 |
| exon_skip_382934 | 3 | 46719748:46719879:46720699:46720777:46721919:46722031 | 46720699:46720777 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000423707.1 |
| exon_skip_382965 | 3 | 46721919:46722031:46722735:46722897:46722989:46723063 | 46722735:46722897 | ENSG00000178038.12 | ENST00000415953.1,ENST00000318962.4,ENST00000423707.1 |
| exon_skip_382966 | 3 | 46721919:46722031:46722735:46722897:46722993:46723088 | 46722735:46722897 | ENSG00000178038.12 | ENST00000434140.1 |
| exon_skip_382973 | 3 | 46723518:46723584:46724619:46724816:46725271:46725338 | 46724619:46724816 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000450172.1 |
| exon_skip_382974 | 3 | 46723518:46723584:46724623:46724816:46725271:46725338 | 46724623:46724816 | ENSG00000178038.12 | ENST00000423707.1 |
| exon_skip_382978 | 3 | 46725478:46725537:46727014:46727134:46727797:46727929 | 46727014:46727134 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000450172.1 |
| exon_skip_382981 | 3 | 46727797:46727929:46728472:46728638:46729108:46729174 | 46728472:46728638 | ENSG00000178038.12 | ENST00000434140.1,ENST00000415953.1,ENST00000318962.4,ENST00000431015.1,ENST00000423707.1,ENST00000450172.1 |
| exon_skip_382983 | 3 | 46729587:46729786:46730827:46730955:46735132:46735166 | 46730827:46730955 | ENSG00000178038.12 | ENST00000434140.1,ENST00000318962.4,ENST00000431015.1,ENST00000450172.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ALS2CL |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_382885 | 3 | 46712977:46713074:46713373:46713523:46713629:46713691 | 46713373:46713523 | ENSG00000178038.12 | ENST00000486301.1,ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1 |
| exon_skip_382887 | 3 | 46713373:46713523:46713629:46713691:46714828:46714871 | 46713629:46713691 | ENSG00000178038.12 | ENST00000486301.1,ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1,ENST00000498817.1,ENST00000473484.1 |
| exon_skip_382890 | 3 | 46714828:46714871:46716055:46716229:46717107:46717176 | 46716055:46716229 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3 |
| exon_skip_382911 | 3 | 46716055:46716229:46717107:46717176:46717734:46717892 | 46717107:46717176 | ENSG00000178038.12 | ENST00000318962.4,ENST00000415953.1,ENST00000383742.3 |
| exon_skip_382913 | 3 | 46716055:46716229:46717107:46717466:46717734:46717892 | 46717107:46717466 | ENSG00000178038.12 | ENST00000434140.1 |
| exon_skip_382927 | 3 | 46717772:46717892:46718131:46718228:46718338:46718512 | 46718131:46718228 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000383742.3,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1 |
| exon_skip_382934 | 3 | 46719748:46719879:46720699:46720777:46721919:46722031 | 46720699:46720777 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000423707.1 |
| exon_skip_382966 | 3 | 46721919:46722031:46722735:46722897:46722993:46723088 | 46722735:46722897 | ENSG00000178038.12 | ENST00000434140.1 |
| exon_skip_382973 | 3 | 46723518:46723584:46724619:46724816:46725271:46725338 | 46724619:46724816 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1 |
| exon_skip_382974 | 3 | 46723518:46723584:46724623:46724816:46725271:46725338 | 46724623:46724816 | ENSG00000178038.12 | ENST00000423707.1 |
| exon_skip_382978 | 3 | 46725478:46725537:46727014:46727134:46727797:46727929 | 46727014:46727134 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1 |
| exon_skip_382981 | 3 | 46727797:46727929:46728472:46728638:46729108:46729174 | 46728472:46728638 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000415953.1,ENST00000431015.1,ENST00000450172.1,ENST00000423707.1 |
| exon_skip_382983 | 3 | 46729587:46729786:46730827:46730955:46735132:46735166 | 46730827:46730955 | ENSG00000178038.12 | ENST00000318962.4,ENST00000434140.1,ENST00000431015.1,ENST00000450172.1 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for ALS2CL |
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 |
| ENST00000318962 | 46730827 | 46730955 | 3UTR-3CDS |
| ENST00000318962 | 46713629 | 46713691 | Frame-shift |
| ENST00000415953 | 46713629 | 46713691 | Frame-shift |
| ENST00000318962 | 46718131 | 46718228 | Frame-shift |
| ENST00000415953 | 46718131 | 46718228 | Frame-shift |
| ENST00000318962 | 46724619 | 46724816 | Frame-shift |
| ENST00000415953 | 46724619 | 46724816 | Frame-shift |
| ENST00000318962 | 46728472 | 46728638 | Frame-shift |
| ENST00000415953 | 46728472 | 46728638 | Frame-shift |
| ENST00000318962 | 46713373 | 46713523 | In-frame |
| ENST00000415953 | 46713373 | 46713523 | In-frame |
| ENST00000318962 | 46716055 | 46716229 | In-frame |
| ENST00000415953 | 46716055 | 46716229 | In-frame |
| ENST00000318962 | 46717107 | 46717176 | In-frame |
| ENST00000415953 | 46717107 | 46717176 | In-frame |
| ENST00000318962 | 46720699 | 46720777 | In-frame |
| ENST00000415953 | 46720699 | 46720777 | In-frame |
| ENST00000318962 | 46722735 | 46722897 | In-frame |
| ENST00000415953 | 46722735 | 46722897 | In-frame |
| ENST00000318962 | 46727014 | 46727134 | In-frame |
| ENST00000415953 | 46727014 | 46727134 | 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 |
| ENST00000318962 | 46730827 | 46730955 | 3UTR-3CDS |
| ENST00000318962 | 46713629 | 46713691 | Frame-shift |
| ENST00000415953 | 46713629 | 46713691 | Frame-shift |
| ENST00000318962 | 46718131 | 46718228 | Frame-shift |
| ENST00000415953 | 46718131 | 46718228 | Frame-shift |
| ENST00000318962 | 46724619 | 46724816 | Frame-shift |
| ENST00000415953 | 46724619 | 46724816 | Frame-shift |
| ENST00000318962 | 46728472 | 46728638 | Frame-shift |
| ENST00000415953 | 46728472 | 46728638 | Frame-shift |
| ENST00000318962 | 46713373 | 46713523 | In-frame |
| ENST00000415953 | 46713373 | 46713523 | In-frame |
| ENST00000318962 | 46716055 | 46716229 | In-frame |
| ENST00000415953 | 46716055 | 46716229 | In-frame |
| ENST00000318962 | 46717107 | 46717176 | In-frame |
| ENST00000415953 | 46717107 | 46717176 | In-frame |
| ENST00000318962 | 46720699 | 46720777 | In-frame |
| ENST00000415953 | 46720699 | 46720777 | In-frame |
| ENST00000318962 | 46727014 | 46727134 | In-frame |
| ENST00000415953 | 46727014 | 46727134 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ALS2CL |
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 |
| ENST00000318962 | 4758 | 953 | 46727014 | 46727134 | 751 | 870 | 222 | 262 |
| ENST00000415953 | 3488 | 953 | 46727014 | 46727134 | 857 | 976 | 222 | 262 |
| ENST00000318962 | 4758 | 953 | 46722735 | 46722897 | 1359 | 1520 | 425 | 478 |
| ENST00000415953 | 3488 | 953 | 46722735 | 46722897 | 1465 | 1626 | 425 | 478 |
| ENST00000318962 | 4758 | 953 | 46720699 | 46720777 | 1633 | 1710 | 516 | 542 |
| ENST00000415953 | 3488 | 953 | 46720699 | 46720777 | 1739 | 1816 | 516 | 542 |
| ENST00000318962 | 4758 | 953 | 46717107 | 46717176 | 2271 | 2339 | 729 | 751 |
| ENST00000415953 | 3488 | 953 | 46717107 | 46717176 | 2377 | 2445 | 729 | 751 |
| ENST00000318962 | 4758 | 953 | 46716055 | 46716229 | 2340 | 2513 | 752 | 809 |
| ENST00000415953 | 3488 | 953 | 46716055 | 46716229 | 2446 | 2619 | 752 | 809 |
| ENST00000318962 | 4758 | 953 | 46713373 | 46713523 | 2619 | 2768 | 845 | 894 |
| ENST00000415953 | 3488 | 953 | 46713373 | 46713523 | 2725 | 2874 | 845 | 894 |
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 |
| ENST00000318962 | 4758 | 953 | 46727014 | 46727134 | 751 | 870 | 222 | 262 |
| ENST00000415953 | 3488 | 953 | 46727014 | 46727134 | 857 | 976 | 222 | 262 |
| ENST00000318962 | 4758 | 953 | 46720699 | 46720777 | 1633 | 1710 | 516 | 542 |
| ENST00000415953 | 3488 | 953 | 46720699 | 46720777 | 1739 | 1816 | 516 | 542 |
| ENST00000318962 | 4758 | 953 | 46717107 | 46717176 | 2271 | 2339 | 729 | 751 |
| ENST00000415953 | 3488 | 953 | 46717107 | 46717176 | 2377 | 2445 | 729 | 751 |
| ENST00000318962 | 4758 | 953 | 46716055 | 46716229 | 2340 | 2513 | 752 | 809 |
| ENST00000415953 | 3488 | 953 | 46716055 | 46716229 | 2446 | 2619 | 752 | 809 |
| ENST00000318962 | 4758 | 953 | 46713373 | 46713523 | 2619 | 2768 | 845 | 894 |
| ENST00000415953 | 3488 | 953 | 46713373 | 46713523 | 2725 | 2874 | 845 | 894 |
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 ALS2CL |
- 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 |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382885 | 46713374 | 46713523 | 46713435 | 46713435 | Frame_Shift_Del | C | - | p.E875fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382890 | 46716056 | 46716229 | 46716138 | 46716138 | Frame_Shift_Del | C | - | p.E783fs |
| HNSC | TCGA-CV-A461-01 | 46720700 | 46720777 | 46720728 | 46720728 | Frame_Shift_Del | A | - | p.F533fs | |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722809 | 46722809 | Frame_Shift_Del | G | - | p.Q455fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722809 | 46722809 | Frame_Shift_Del | G | - | p.Q455fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_382973 exon_skip_382974 | 46724620 | 46724816 | 46724741 | 46724741 | Frame_Shift_Del | C | - | p.A330fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_382973 exon_skip_382974 | 46724624 | 46724816 | 46724741 | 46724741 | Frame_Shift_Del | C | - | p.A330fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_382981 | 46728473 | 46728638 | 46728529 | 46728529 | Frame_Shift_Del | G | - | p.H161fs |
| KICH | TCGA-KO-8408-01 | exon_skip_382981 | 46728473 | 46728638 | 46728540 | 46728541 | Frame_Shift_Ins | - | G | p.Q156fs |
| UCEC | TCGA-AP-A059-01 | exon_skip_382911 | 46717108 | 46717176 | 46717115 | 46717115 | Nonsense_Mutation | C | A | p.E750* |
| UCEC | TCGA-AP-A059-01 | exon_skip_382913 | 46717108 | 46717466 | 46717115 | 46717115 | Nonsense_Mutation | C | A | p.E750* |
| SKCM | TCGA-FR-A726-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722783 | 46722783 | Nonsense_Mutation | C | T | p.W463* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722783 | 46722783 | Nonsense_Mutation | C | T | p.W463* |
| SKCM | TCGA-FR-A726-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722784 | 46722784 | Nonsense_Mutation | C | T | p.W463* |
| LUAD | TCGA-17-Z059-01 | exon_skip_382965 exon_skip_382966 | 46722736 | 46722897 | 46722809 | 46722809 | Nonsense_Mutation | G | A | p.Q455* |
- 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 |
| CW2_LARGE_INTESTINE | 46722736 | 46722897 | 46722873 | 46722874 | Frame_Shift_Ins | - | A | p.K433fs |
| JHUEM7_ENDOMETRIUM | 46713374 | 46713523 | 46713452 | 46713452 | Missense_Mutation | G | A | p.S869L |
| BCPAP_THYROID | 46713374 | 46713523 | 46713458 | 46713458 | Missense_Mutation | G | A | p.T867M |
| KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46713374 | 46713523 | 46713467 | 46713467 | Missense_Mutation | A | G | p.I864T |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46713374 | 46713523 | 46713480 | 46713480 | Missense_Mutation | T | C | p.T860A |
| CW2_LARGE_INTESTINE | 46713630 | 46713691 | 46713645 | 46713645 | Missense_Mutation | C | T | p.C840Y |
| JHUEM7_ENDOMETRIUM | 46713630 | 46713691 | 46713672 | 46713672 | Missense_Mutation | T | C | p.D831G |
| NCIH835_LUNG | 46716056 | 46716229 | 46716075 | 46716075 | Missense_Mutation | C | T | p.E804K |
| AN3CA_ENDOMETRIUM | 46716056 | 46716229 | 46716113 | 46716113 | Missense_Mutation | A | G | p.I791T |
| LNCAPCLONEFGC_PROSTATE | 46716056 | 46716229 | 46716136 | 46716136 | Missense_Mutation | C | A | p.E783D |
| SNGM_ENDOMETRIUM | 46716056 | 46716229 | 46716212 | 46716212 | Missense_Mutation | C | G | p.G758A |
| C33A_CERVIX | 46720700 | 46720777 | 46720718 | 46720718 | Missense_Mutation | G | T | p.D536E |
| RL952_ENDOMETRIUM | 46720700 | 46720777 | 46720758 | 46720758 | Missense_Mutation | G | C | p.S523C |
| NCIH1373_LUNG | 46722736 | 46722897 | 46722817 | 46722817 | Missense_Mutation | T | G | p.Q452P |
| PLCPRF5_LIVER | 46722736 | 46722897 | 46722817 | 46722817 | Missense_Mutation | T | G | p.Q452P |
| YH13_CENTRAL_NERVOUS_SYSTEM | 46722736 | 46722897 | 46722851 | 46722851 | Missense_Mutation | G | A | p.R441W |
| JHUEM3_ENDOMETRIUM | 46724620 | 46724816 | 46724624 | 46724624 | Missense_Mutation | C | T | p.G369S |
| JHUEM3_ENDOMETRIUM | 46724624 | 46724816 | 46724624 | 46724624 | Missense_Mutation | C | T | p.G369S |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46727015 | 46727134 | 46727071 | 46727071 | Missense_Mutation | C | T | p.A244T |
| NCIH1781_LUNG | 46727015 | 46727134 | 46727131 | 46727131 | Missense_Mutation | C | T | p.V224M |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 46728473 | 46728638 | 46728532 | 46728532 | Missense_Mutation | C | T | p.A159T |
| MDAPCA2B_PROSTATE | 46728473 | 46728638 | 46728542 | 46728542 | Missense_Mutation | G | T | p.H155Q |
| RL952_ENDOMETRIUM | 46728473 | 46728638 | 46728607 | 46728607 | Missense_Mutation | G | A | p.R134W |
| RMUGS_OVARY | 46730828 | 46730955 | 46730870 | 46730870 | Missense_Mutation | C | T | p.A21T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 46730828 | 46730955 | 46730927 | 46730927 | Missense_Mutation | A | G | p.C2R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ALS2CL |
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 ALS2CL |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ALS2CL |
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RelatedDrugs for ALS2CL |
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 ALS2CL |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ALS2CL | C0036341 | Schizophrenia | 1 | CTD_human |