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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 ARMC8 |
 Gene summary |
| Gene information | Gene symbol | ARMC8 | Gene ID | 25852 |
| Gene name | armadillo repeat containing 8 | |
| Synonyms | GID5|HSPC056|S863-2|VID28 | |
| Cytomap | 3q22.3 | |
| Type of gene | protein-coding | |
| Description | armadillo repeat-containing protein 8GID complex subunit 5, VID28 homolog | |
| Modification date | 20180523 | |
| UniProtAcc | Q8IUR7 | |
| Context | PubMed: ARMC8 [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 ARMC8 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 ARMC8 |
| 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 ARMC8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378029 | 3 | 137906393:137906441:137907242:137907372:137928658:137928732 | 137907242:137907372 | ENSG00000114098.13 | ENST00000358441.2 |
| exon_skip_378030 | 3 | 137906393:137906441:137907242:137907372:137940767:137940839 | 137907242:137907372 | ENSG00000114098.13 | ENST00000466749.1 |
| exon_skip_378032 | 3 | 137906393:137906441:137907296:137907372:137928658:137928732 | 137907296:137907372 | ENSG00000114098.13 | ENST00000471453.1 |
| exon_skip_378033 | 3 | 137906393:137906441:137907296:137907372:137940767:137940839 | 137907296:137907372 | ENSG00000114098.13 | ENST00000491704.1 |
| exon_skip_378034 | 3 | 137906393:137906441:137928658:137928735:137940767:137940839 | 137928658:137928735 | ENSG00000114098.13 | ENST00000471709.1,ENST00000393058.3,ENST00000470821.1,ENST00000461822.1,ENST00000469044.1,ENST00000461600.1,ENST00000538260.1 |
| exon_skip_378036 | 3 | 137907296:137907372:137928658:137928735:137940767:137940839 | 137928658:137928735 | ENSG00000114098.13 | ENST00000481646.1,ENST00000471453.1,ENST00000358441.2 |
| exon_skip_378038 | 3 | 137940767:137940839:137942230:137942373:137942477:137942575 | 137942230:137942373 | ENSG00000114098.13 | ENST00000489213.1,ENST00000471709.1,ENST00000393058.3,ENST00000470821.1,ENST00000461822.1,ENST00000466749.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000461600.1,ENST00000471453.1,ENST00000485396.1,ENST00000538260.1,ENST00000358441.2 |
| exon_skip_378042 | 3 | 137940767:137940839:137947759:137947852:137953875:137953942 | 137947759:137947852 | ENSG00000114098.13 | ENST00000463485.1 |
| exon_skip_378043 | 3 | 137942477:137942575:137947759:137947852:137953875:137953942 | 137947759:137947852 | ENSG00000114098.13 | ENST00000489213.1,ENST00000393058.3,ENST00000470821.1,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000461600.1,ENST00000471453.1,ENST00000470549.2,ENST00000358441.2 |
| exon_skip_378048 | 3 | 137953875:137953956:137956150:137956226:137956323:137956414 | 137956150:137956226 | ENSG00000114098.13 | ENST00000489213.1,ENST00000471709.1,ENST00000393058.3,ENST00000470821.1,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000471453.1,ENST00000485396.1,ENST00000538260.1,ENST00000463485.1,ENST00000358441.2 |
| exon_skip_378049 | 3 | 137953875:137953956:137956150:137956226:137958309:137958370 | 137956150:137956226 | ENSG00000114098.13 | ENST00000470549.2 |
| exon_skip_378058 | 3 | 137956150:137956226:137956323:137956414:137958309:137958370 | 137956323:137956414 | ENSG00000114098.13 | ENST00000489213.1,ENST00000393058.3,ENST00000470821.1,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000471453.1,ENST00000485396.1,ENST00000538260.1,ENST00000463485.1,ENST00000358441.2 |
| exon_skip_378061 | 3 | 137956323:137956414:137958309:137958370:137960624:137960825 | 137958309:137958370 | ENSG00000114098.13 | ENST00000489213.1,ENST00000393058.3,ENST00000470821.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000471453.1,ENST00000485396.1,ENST00000538260.1,ENST00000463485.1,ENST00000358441.2 |
| exon_skip_378065 | 3 | 137958310:137958370:137960624:137960825:137963929:137964025 | 137960624:137960825 | ENSG00000114098.13 | ENST00000489213.1,ENST00000393058.3,ENST00000486832.1,ENST00000470821.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000471453.1,ENST00000485396.1,ENST00000538260.1,ENST00000463485.1,ENST00000358441.2 |
| exon_skip_378068 | 3 | 137982972:137983054:137985996:137986083:137988881:137988974 | 137985996:137986083 | ENSG00000114098.13 | ENST00000393058.3,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000485396.1,ENST00000466762.1,ENST00000538260.1 |
| exon_skip_378070 | 3 | 137988881:137988974:137991808:137991958:137993290:137993386 | 137991808:137991958 | ENSG00000114098.13 | ENST00000393058.3,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000485396.1,ENST00000466762.1,ENST00000538260.1 |
| exon_skip_378077 | 3 | 137991921:137991958:137993290:137993386:138003272:138003368 | 137993290:137993386 | ENSG00000114098.13 | ENST00000464181.2,ENST00000393058.3,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000485396.1,ENST00000466762.1,ENST00000538260.1 |
| exon_skip_378078 | 3 | 137993290:137993386:138003272:138003368:138007889:138007962 | 138003272:138003368 | ENSG00000114098.13 | ENST00000393058.3,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000485396.1,ENST00000466762.1,ENST00000538260.1 |
| exon_skip_378082 | 3 | 138007889:138007962:138009387:138009481:138014700:138014775 | 138009387:138009481 | ENSG00000114098.13 | ENST00000393058.3,ENST00000461822.1,ENST00000469044.1,ENST00000481646.1,ENST00000491704.1,ENST00000460495.1,ENST00000485396.1,ENST00000466762.1,ENST00000538260.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARMC8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_378029 | 3 | 137906393:137906441:137907242:137907372:137928658:137928732 | 137907242:137907372 | ENSG00000114098.13 | ENST00000358441.2 |
| exon_skip_378030 | 3 | 137906393:137906441:137907242:137907372:137940767:137940839 | 137907242:137907372 | ENSG00000114098.13 | ENST00000466749.1 |
| exon_skip_378032 | 3 | 137906393:137906441:137907296:137907372:137928658:137928732 | 137907296:137907372 | ENSG00000114098.13 | ENST00000471453.1 |
| exon_skip_378033 | 3 | 137906393:137906441:137907296:137907372:137940767:137940839 | 137907296:137907372 | ENSG00000114098.13 | ENST00000491704.1 |
| exon_skip_378034 | 3 | 137906393:137906441:137928658:137928735:137940767:137940839 | 137928658:137928735 | ENSG00000114098.13 | ENST00000469044.1,ENST00000461600.1,ENST00000461822.1,ENST00000470821.1,ENST00000471709.1,ENST00000538260.1,ENST00000393058.3 |
| exon_skip_378036 | 3 | 137907296:137907372:137928658:137928735:137940767:137940839 | 137928658:137928735 | ENSG00000114098.13 | ENST00000481646.1,ENST00000358441.2,ENST00000471453.1 |
| exon_skip_378038 | 3 | 137940767:137940839:137942230:137942373:137942477:137942575 | 137942230:137942373 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461600.1,ENST00000466749.1,ENST00000358441.2,ENST00000489213.1,ENST00000461822.1,ENST00000485396.1,ENST00000471453.1,ENST00000470821.1,ENST00000471709.1,ENST00000538260.1,ENST00000393058.3 |
| exon_skip_378042 | 3 | 137940767:137940839:137947759:137947852:137953875:137953942 | 137947759:137947852 | ENSG00000114098.13 | ENST00000463485.1 |
| exon_skip_378043 | 3 | 137942477:137942575:137947759:137947852:137953875:137953942 | 137947759:137947852 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461600.1,ENST00000358441.2,ENST00000489213.1,ENST00000461822.1,ENST00000471453.1,ENST00000470821.1,ENST00000393058.3,ENST00000470549.2 |
| exon_skip_378048 | 3 | 137953875:137953956:137956150:137956226:137956323:137956414 | 137956150:137956226 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000358441.2,ENST00000489213.1,ENST00000461822.1,ENST00000485396.1,ENST00000471453.1,ENST00000470821.1,ENST00000471709.1,ENST00000538260.1,ENST00000393058.3,ENST00000463485.1 |
| exon_skip_378049 | 3 | 137953875:137953956:137956150:137956226:137958309:137958370 | 137956150:137956226 | ENSG00000114098.13 | ENST00000470549.2 |
| exon_skip_378058 | 3 | 137956150:137956226:137956323:137956414:137958309:137958370 | 137956323:137956414 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000358441.2,ENST00000489213.1,ENST00000461822.1,ENST00000485396.1,ENST00000471453.1,ENST00000470821.1,ENST00000538260.1,ENST00000393058.3,ENST00000463485.1 |
| exon_skip_378061 | 3 | 137956323:137956414:137958309:137958370:137960624:137960825 | 137958309:137958370 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000358441.2,ENST00000489213.1,ENST00000485396.1,ENST00000471453.1,ENST00000470821.1,ENST00000538260.1,ENST00000393058.3,ENST00000463485.1,ENST00000460495.1 |
| exon_skip_378065 | 3 | 137958310:137958370:137960624:137960825:137963929:137964025 | 137960624:137960825 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000358441.2,ENST00000489213.1,ENST00000485396.1,ENST00000471453.1,ENST00000470821.1,ENST00000538260.1,ENST00000393058.3,ENST00000463485.1,ENST00000460495.1,ENST00000486832.1 |
| exon_skip_378068 | 3 | 137982972:137983054:137985996:137986083:137988881:137988974 | 137985996:137986083 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461822.1,ENST00000485396.1,ENST00000538260.1,ENST00000393058.3,ENST00000460495.1,ENST00000466762.1 |
| exon_skip_378070 | 3 | 137988881:137988974:137991808:137991958:137993290:137993386 | 137991808:137991958 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461822.1,ENST00000485396.1,ENST00000538260.1,ENST00000393058.3,ENST00000460495.1,ENST00000466762.1 |
| exon_skip_378077 | 3 | 137991921:137991958:137993290:137993386:138003272:138003368 | 137993290:137993386 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461822.1,ENST00000485396.1,ENST00000538260.1,ENST00000393058.3,ENST00000460495.1,ENST00000466762.1,ENST00000464181.2 |
| exon_skip_378078 | 3 | 137993290:137993386:138003272:138003368:138007889:138007962 | 138003272:138003368 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461822.1,ENST00000485396.1,ENST00000538260.1,ENST00000393058.3,ENST00000460495.1,ENST00000466762.1 |
| exon_skip_378082 | 3 | 138007889:138007962:138009387:138009481:138014700:138014775 | 138009387:138009481 | ENSG00000114098.13 | ENST00000481646.1,ENST00000469044.1,ENST00000491704.1,ENST00000461822.1,ENST00000485396.1,ENST00000538260.1,ENST00000393058.3,ENST00000460495.1,ENST00000466762.1 |
| 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 ARMC8 |
| 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 |
| ENST00000469044 | 137928658 | 137928735 | Frame-shift |
| ENST00000469044 | 137942230 | 137942373 | Frame-shift |
| ENST00000469044 | 137956150 | 137956226 | Frame-shift |
| ENST00000469044 | 137956323 | 137956414 | Frame-shift |
| ENST00000469044 | 137958309 | 137958370 | Frame-shift |
| ENST00000469044 | 138009387 | 138009481 | Frame-shift |
| ENST00000469044 | 137947759 | 137947852 | In-frame |
| ENST00000469044 | 137960624 | 137960825 | In-frame |
| ENST00000469044 | 137985996 | 137986083 | In-frame |
| ENST00000469044 | 137991808 | 137991958 | In-frame |
| ENST00000469044 | 137993290 | 137993386 | In-frame |
| ENST00000469044 | 138003272 | 138003368 | 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 |
| ENST00000469044 | 137928658 | 137928735 | Frame-shift |
| ENST00000469044 | 137942230 | 137942373 | Frame-shift |
| ENST00000469044 | 137956150 | 137956226 | Frame-shift |
| ENST00000469044 | 137956323 | 137956414 | Frame-shift |
| ENST00000469044 | 137958309 | 137958370 | Frame-shift |
| ENST00000469044 | 138009387 | 138009481 | Frame-shift |
| ENST00000469044 | 137947759 | 137947852 | In-frame |
| ENST00000469044 | 137960624 | 137960825 | In-frame |
| ENST00000469044 | 137985996 | 137986083 | In-frame |
| ENST00000469044 | 137991808 | 137991958 | In-frame |
| ENST00000469044 | 137993290 | 137993386 | In-frame |
| ENST00000469044 | 138003272 | 138003368 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARMC8 |
| 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 |
| ENST00000469044 | 4807 | 673 | 137947759 | 137947852 | 707 | 799 | 145 | 176 |
| ENST00000469044 | 4807 | 673 | 137960624 | 137960825 | 1109 | 1309 | 279 | 346 |
| ENST00000469044 | 4807 | 673 | 137985996 | 137986083 | 1571 | 1657 | 433 | 462 |
| ENST00000469044 | 4807 | 673 | 137991808 | 137991958 | 1751 | 1900 | 493 | 543 |
| ENST00000469044 | 4807 | 673 | 137993290 | 137993386 | 1901 | 1996 | 543 | 575 |
| ENST00000469044 | 4807 | 673 | 138003272 | 138003368 | 1997 | 2092 | 575 | 607 |
| 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 |
| ENST00000469044 | 4807 | 673 | 137947759 | 137947852 | 707 | 799 | 145 | 176 |
| ENST00000469044 | 4807 | 673 | 137960624 | 137960825 | 1109 | 1309 | 279 | 346 |
| ENST00000469044 | 4807 | 673 | 137985996 | 137986083 | 1571 | 1657 | 433 | 462 |
| ENST00000469044 | 4807 | 673 | 137991808 | 137991958 | 1751 | 1900 | 493 | 543 |
| ENST00000469044 | 4807 | 673 | 137993290 | 137993386 | 1901 | 1996 | 543 | 575 |
| ENST00000469044 | 4807 | 673 | 138003272 | 138003368 | 1997 | 2092 | 575 | 607 |
| 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 ARMC8 |
| - 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. |
ARMC8_READ_exon_skip_378065_psi_boxplot.png |
| - 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-A3A0-01 | exon_skip_378038 | 137942231 | 137942373 | 137942274 | 137942274 | Frame_Shift_Del | A | - | p.K80fs |
| BRCA | TCGA-C8-A1HF-01 | exon_skip_378070 | 137991809 | 137991958 | 137991869 | 137991869 | Frame_Shift_Del | G | - | p.E500fs |
| SKCM | TCGA-EE-A2MD-06 | exon_skip_378049 exon_skip_378048 | 137956151 | 137956226 | 137956154 | 137956154 | Nonsense_Mutation | C | T | p.R205* |
| THYM | TCGA-YT-A95H-01 | exon_skip_378068 | 137985997 | 137986083 | 137986063 | 137986063 | Nonsense_Mutation | G | T | p.E442X |
| BLCA | TCGA-DK-A6B2-01 | exon_skip_378070 | 137991809 | 137991958 | 137991854 | 137991854 | Nonsense_Mutation | C | T | p.R509* |
| READ | TCGA-EI-6917-01 | exon_skip_378065 | 137960625 | 137960825 | 137960826 | 137960826 | Splice_Site | G | A | . |
| DLBC | TCGA-FF-8047-01 | exon_skip_378082 | 138009388 | 138009481 | 138009387 | 138009387 | Splice_Site | G | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-EI-6917-01 |
| Cancer type: READ | |
| ESID: exon_skip_378065 | |
| Skipped exon start: 137960625 | |
| Skipped exon end: 137960825 | |
| Mutation start: 137960826 | |
| Mutation end: 137960826 | |
| Mutation type: Splice_Site | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: . | |
exon_skip_304776_READ_TCGA-EI-6917-01.png | |
exon_skip_364099_READ_TCGA-EI-6917-01.png | |
exon_skip_364103_READ_TCGA-EI-6917-01.png | |
exon_skip_378065_READ_TCGA-EI-6917-01.png | |
exon_skip_382353_READ_TCGA-EI-6917-01.png | |
exon_skip_385179_READ_TCGA-EI-6917-01.png | |
exon_skip_425103_READ_TCGA-EI-6917-01.png | |
exon_skip_441422_READ_TCGA-EI-6917-01.png | |
exon_skip_467850_READ_TCGA-EI-6917-01.png | |
exon_skip_513411_READ_TCGA-EI-6917-01.png | |
exon_skip_68288_READ_TCGA-EI-6917-01.png | |
exon_skip_68289_READ_TCGA-EI-6917-01.png | |
exon_skip_78464_READ_TCGA-EI-6917-01.png | |
| - 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 |
| SNU398_LIVER | 137942231 | 137942373 | 137942350 | 137942351 | In_Frame_Ins | - | TAT | p.107_108insI |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137928659 | 137928735 | 137928668 | 137928668 | Missense_Mutation | G | A | p.A19T |
| NCIH1563_LUNG | 137942231 | 137942373 | 137942253 | 137942253 | Missense_Mutation | G | A | p.E73K |
| CP66MEL_SKIN | 137942231 | 137942373 | 137942298 | 137942298 | Missense_Mutation | G | A | p.G88R |
| 451LU_SKIN | 137947760 | 137947852 | 137947805 | 137947805 | Missense_Mutation | C | T | p.R161C |
| SNU1040_LARGE_INTESTINE | 137956324 | 137956414 | 137956411 | 137956411 | Missense_Mutation | A | T | p.K258I |
| 22RV1_PROSTATE | 137960625 | 137960825 | 137960701 | 137960701 | Missense_Mutation | C | G | p.A305G |
| ABC1_LUNG | 137960625 | 137960825 | 137960734 | 137960734 | Missense_Mutation | G | A | p.R316K |
| SNU407_LARGE_INTESTINE | 137960625 | 137960825 | 137960739 | 137960739 | Missense_Mutation | G | A | p.A318T |
| HEC108_ENDOMETRIUM | 137991809 | 137991958 | 137991837 | 137991837 | Missense_Mutation | T | C | p.I503T |
| IGROV1_OVARY | 137991809 | 137991958 | 137991855 | 137991855 | Missense_Mutation | G | A | p.R509Q |
| COLO680N_OESOPHAGUS | 137991809 | 137991958 | 137991862 | 137991862 | Missense_Mutation | G | C | p.L511F |
| EJM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 137993291 | 137993386 | 137993297 | 137993297 | Missense_Mutation | G | A | p.D546N |
| BICR16_UPPER_AERODIGESTIVE_TRACT | 137993291 | 137993386 | 137993354 | 137993354 | Missense_Mutation | G | C | p.E565Q |
| GEO_LARGE_INTESTINE | 138009388 | 138009481 | 138009399 | 138009399 | Missense_Mutation | C | T | p.R636C |
| C32_SKIN | 138009388 | 138009481 | 138009400 | 138009400 | Missense_Mutation | G | A | p.R636H |
| SNU1040_LARGE_INTESTINE | 138009388 | 138009481 | 138009424 | 138009424 | Missense_Mutation | G | A | p.G644D |
| SNU81_LARGE_INTESTINE | 137960625 | 137960825 | 137960643 | 137960643 | Nonsense_Mutation | C | T | p.R286* |
| HEC108_ENDOMETRIUM | 138009388 | 138009481 | 138009414 | 138009414 | Nonsense_Mutation | C | T | p.R641* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARMC8 |
| 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 ARMC8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARMC8 |
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RelatedDrugs for ARMC8 |
| 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 ARMC8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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