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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 MCM8 |
 Gene summary |
| Gene information | Gene symbol | MCM8 | Gene ID | 84515 |
| Gene name | minichromosome maintenance 8 homologous recombination repair factor | |
| Synonyms | C20orf154|POF10|dJ967N21.5 | |
| Cytomap | 20p12.3 | |
| Type of gene | protein-coding | |
| Description | DNA helicase MCM8DNA replication licensing factor MCM8MCM8 minichromosome maintenance deficient 8REC homologminichromosome maintenance complex component 8 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9UJA3 | |
| Context | PubMed: MCM8 [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 |
| MCM8 | GO:0006974 | cellular response to DNA damage stimulus | 22771115 |
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Exon skipping events across known transcript of Ensembl for MCM8 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 MCM8 |
| 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 MCM8 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348954 | 20 | 5939173:5939372:5943919:5944005:5948081:5948233 | 5943919:5944005 | ENSG00000125885.9 | ENST00000378883.1,ENST00000378886.2,ENST00000265187.4,ENST00000378896.3 |
| exon_skip_348960 | 20 | 5948523:5948671:5952652:5952683:5953701:5953842 | 5952652:5952683 | ENSG00000125885.9 | ENST00000265187.4,ENST00000378896.3 |
| exon_skip_348963 | 20 | 5948523:5948671:5952652:5952683:5958521:5958663 | 5952652:5952683 | ENSG00000125885.9 | ENST00000378883.1 |
| exon_skip_348964 | 20 | 5948523:5948671:5953221:5953372:5953701:5953842 | 5953221:5953372 | ENSG00000125885.9 | ENST00000378886.2 |
| exon_skip_348980 | 20 | 5952652:5952683:5953701:5953842:5958521:5958663 | 5953701:5953842 | ENSG00000125885.9 | ENST00000265187.4,ENST00000378896.3 |
| exon_skip_348988 | 20 | 5953701:5953842:5958521:5958663:5963615:5963811 | 5958521:5958663 | ENSG00000125885.9 | ENST00000378886.2,ENST00000265187.4,ENST00000378896.3 |
| exon_skip_348990 | 20 | 5963615:5963811:5965426:5965646:5966567:5966777 | 5965426:5965646 | ENSG00000125885.9 | ENST00000378883.1,ENST00000378886.2,ENST00000265187.4,ENST00000378896.3 |
| exon_skip_348994 | 20 | 5965426:5965646:5966567:5966777:5967927:5968004 | 5966567:5966777 | ENSG00000125885.9 | ENST00000378883.1,ENST00000378886.2,ENST00000265187.4,ENST00000378896.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MCM8 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_348954 | 20 | 5939173:5939372:5943919:5944005:5948081:5948233 | 5943919:5944005 | ENSG00000125885.9 | ENST00000378896.3,ENST00000378883.1,ENST00000378886.2,ENST00000265187.4 |
| exon_skip_348960 | 20 | 5948523:5948671:5952652:5952683:5953701:5953842 | 5952652:5952683 | ENSG00000125885.9 | ENST00000378896.3,ENST00000265187.4 |
| exon_skip_348963 | 20 | 5948523:5948671:5952652:5952683:5958521:5958663 | 5952652:5952683 | ENSG00000125885.9 | ENST00000378883.1 |
| exon_skip_348964 | 20 | 5948523:5948671:5953221:5953372:5953701:5953842 | 5953221:5953372 | ENSG00000125885.9 | ENST00000378886.2 |
| exon_skip_348980 | 20 | 5952652:5952683:5953701:5953842:5958521:5958663 | 5953701:5953842 | ENSG00000125885.9 | ENST00000378896.3,ENST00000265187.4 |
| exon_skip_348988 | 20 | 5953701:5953842:5958521:5958663:5963615:5963811 | 5958521:5958663 | ENSG00000125885.9 | ENST00000378896.3,ENST00000378886.2,ENST00000265187.4 |
| exon_skip_348990 | 20 | 5963615:5963811:5965426:5965646:5966567:5966777 | 5965426:5965646 | ENSG00000125885.9 | ENST00000378896.3,ENST00000378883.1,ENST00000378886.2,ENST00000265187.4 |
| exon_skip_348994 | 20 | 5965426:5965646:5966567:5966777:5967927:5968004 | 5966567:5966777 | ENSG00000125885.9 | ENST00000378896.3,ENST00000378883.1,ENST00000378886.2,ENST00000265187.4 |
| 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 MCM8 |
| 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 |
| ENST00000378896 | 5943919 | 5944005 | Frame-shift |
| ENST00000378896 | 5952652 | 5952683 | Frame-shift |
| ENST00000378896 | 5958521 | 5958663 | Frame-shift |
| ENST00000378896 | 5965426 | 5965646 | Frame-shift |
| ENST00000378896 | 5953701 | 5953842 | In-frame |
| ENST00000378896 | 5966567 | 5966777 | 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 |
| ENST00000378896 | 5943919 | 5944005 | Frame-shift |
| ENST00000378896 | 5952652 | 5952683 | Frame-shift |
| ENST00000378896 | 5958521 | 5958663 | Frame-shift |
| ENST00000378896 | 5965426 | 5965646 | Frame-shift |
| ENST00000378896 | 5953701 | 5953842 | In-frame |
| ENST00000378896 | 5966567 | 5966777 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCM8 |
| 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 |
| ENST00000378896 | 3732 | 840 | 5953701 | 5953842 | 1632 | 1772 | 418 | 465 |
| ENST00000378896 | 3732 | 840 | 5966567 | 5966777 | 2331 | 2540 | 651 | 721 |
| 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 |
| ENST00000378896 | 3732 | 840 | 5953701 | 5953842 | 1632 | 1772 | 418 | 465 |
| ENST00000378896 | 3732 | 840 | 5966567 | 5966777 | 2331 | 2540 | 651 | 721 |
| 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 MCM8 |
| - 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-BC-A3KG-01 | exon_skip_348980 | 5953702 | 5953842 | 5953747 | 5953747 | Frame_Shift_Del | A | - | p.K434fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_348980 | 5953702 | 5953842 | 5953822 | 5953822 | Frame_Shift_Del | G | - | p.G459fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_348980 | 5953702 | 5953842 | 5953824 | 5953824 | Frame_Shift_Del | A | - | p.G459fs |
| THYM | TCGA-X7-A8M7-01 | exon_skip_348963 exon_skip_348960 | 5952653 | 5952683 | 5952681 | 5952681 | Nonsense_Mutation | G | T | p.E418X |
| STAD | TCGA-CG-4437-01 | exon_skip_348988 | 5958522 | 5958663 | 5958554 | 5958554 | Nonsense_Mutation | T | A | p.Y476* |
| LUSC | TCGA-34-2600-01 | exon_skip_348994 | 5966568 | 5966777 | 5966673 | 5966673 | Nonsense_Mutation | C | T | p.R727* |
| - 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 |
| HEC108_ENDOMETRIUM | 5966568 | 5966777 | 5966695 | 5966695 | Frame_Shift_Del | T | - | p.L694fs |
| CJM_SKIN | 5953702 | 5953842 | 5953799 | 5953801 | In_Frame_Del | TTG | - | p.V453del |
| DU145_PROSTATE | 5943920 | 5944005 | 5943942 | 5943942 | Missense_Mutation | G | T | p.G271V |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5943920 | 5944005 | 5943963 | 5943963 | Missense_Mutation | G | A | p.R278H |
| LS180_LARGE_INTESTINE | 5943920 | 5944005 | 5943971 | 5943971 | Missense_Mutation | C | A | p.P281T |
| HPAFII_PANCREAS | 5953702 | 5953842 | 5953781 | 5953781 | Missense_Mutation | G | A | p.R445Q |
| MDAMB468_BREAST | 5953702 | 5953842 | 5953797 | 5953797 | Missense_Mutation | C | G | p.I450M |
| MZ7MEL_SKIN | 5953702 | 5953842 | 5953798 | 5953798 | Missense_Mutation | C | T | p.L451F |
| HEC1A_ENDOMETRIUM | 5958522 | 5958663 | 5958549 | 5958549 | Missense_Mutation | G | A | p.V475M |
| HEC1_ENDOMETRIUM | 5958522 | 5958663 | 5958549 | 5958549 | Missense_Mutation | G | A | p.V475M |
| HEC1B_ENDOMETRIUM | 5958522 | 5958663 | 5958549 | 5958549 | Missense_Mutation | G | A | p.V475M |
| LS180_LARGE_INTESTINE | 5958522 | 5958663 | 5958589 | 5958589 | Missense_Mutation | C | A | p.T488K |
| SNU407_LARGE_INTESTINE | 5965427 | 5965646 | 5965573 | 5965573 | Missense_Mutation | G | A | p.R627H |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5966568 | 5966777 | 5966634 | 5966634 | Missense_Mutation | C | T | p.R674W |
| TUR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5966568 | 5966777 | 5966634 | 5966634 | Missense_Mutation | C | T | p.R674W |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5966568 | 5966777 | 5966640 | 5966640 | Missense_Mutation | T | C | p.Y676H |
| JHU028_LUNG | 5966568 | 5966777 | 5966665 | 5966665 | Missense_Mutation | A | C | p.E684A |
| NCIN87_STOMACH | 5966568 | 5966777 | 5966715 | 5966715 | Missense_Mutation | C | G | p.Q701E |
| HEC108_ENDOMETRIUM | 5966568 | 5966777 | 5966728 | 5966728 | Missense_Mutation | G | A | p.S705N |
| MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5966568 | 5966777 | 5966580 | 5966580 | Nonsense_Mutation | G | T | p.E656* |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5966568 | 5966777 | 5966580 | 5966580 | Nonsense_Mutation | G | T | p.E656* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCM8 |
| 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 MCM8 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCM8 |
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RelatedDrugs for MCM8 |
| 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 MCM8 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MCM8 | C4225402 | PREMATURE OVARIAN FAILURE 10 | 1 | UNIPROT |
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