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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 MCM4 |
 Gene summary |
| Gene information | Gene symbol | MCM4 | Gene ID | 4173 |
| Gene name | minichromosome maintenance complex component 4 | |
| Synonyms | CDC21|CDC54|IMD54|NKCD|NKGCD|P1-CDC21|hCdc21 | |
| Cytomap | 8q11.21 | |
| Type of gene | protein-coding | |
| Description | DNA replication licensing factor MCM4CDC21 homologhomolog of S. pombe cell devision cycle 21minichromosome maintenance deficient 4 | |
| Modification date | 20180522 | |
| UniProtAcc | P33991 | |
| Context | PubMed: MCM4 [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 MCM4 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 MCM4 |
| 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 MCM4 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483513 | 8 | 48873517:48873574:48873690:48873774:48874075:48874240 | 48873690:48873774 | ENSG00000104738.12 | ENST00000524086.1,ENST00000523944.1 |
| exon_skip_483515 | 8 | 48873517:48873574:48873690:48873986:48874075:48874240 | 48873690:48873986 | ENSG00000104738.12 | ENST00000520934.1 |
| exon_skip_483517 | 8 | 48875323:48875419:48875504:48875600:48877133:48877225 | 48875504:48875600 | ENSG00000104738.12 | ENST00000519170.1,ENST00000262105.2,ENST00000519138.1,ENST00000523944.1 |
| exon_skip_483518 | 8 | 48877151:48877272:48878746:48878835:48879924:48880045 | 48878746:48878835 | ENSG00000104738.12 | ENST00000520637.1 |
| exon_skip_483519 | 8 | 48877151:48877272:48878746:48878967:48879924:48880045 | 48878746:48878967 | ENSG00000104738.12 | ENST00000262105.2,ENST00000523944.1 |
| exon_skip_483523 | 8 | 48883070:48883436:48883900:48884028:48885416:48885624 | 48883900:48884028 | ENSG00000104738.12 | ENST00000262105.2,ENST00000523944.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MCM4 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_483513 | 8 | 48873517:48873574:48873690:48873774:48874075:48874240 | 48873690:48873774 | ENSG00000104738.12 | ENST00000523944.1,ENST00000524086.1 |
| exon_skip_483515 | 8 | 48873517:48873574:48873690:48873986:48874075:48874240 | 48873690:48873986 | ENSG00000104738.12 | ENST00000520934.1 |
| exon_skip_483517 | 8 | 48875323:48875419:48875504:48875600:48877133:48877225 | 48875504:48875600 | ENSG00000104738.12 | ENST00000523944.1,ENST00000262105.2,ENST00000519170.1,ENST00000519138.1 |
| exon_skip_483518 | 8 | 48877151:48877272:48878746:48878835:48879924:48880045 | 48878746:48878835 | ENSG00000104738.12 | ENST00000520637.1 |
| exon_skip_483519 | 8 | 48877151:48877272:48878746:48878967:48879924:48880045 | 48878746:48878967 | ENSG00000104738.12 | ENST00000523944.1,ENST00000262105.2 |
| exon_skip_483523 | 8 | 48883070:48883436:48883900:48884028:48885416:48885624 | 48883900:48884028 | ENSG00000104738.12 | ENST00000523944.1,ENST00000262105.2 |
| 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 MCM4 |
| 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 |
| ENST00000523944 | 48873690 | 48873774 | 5CDS-5UTR |
| ENST00000262105 | 48878746 | 48878967 | Frame-shift |
| ENST00000523944 | 48878746 | 48878967 | Frame-shift |
| ENST00000262105 | 48883900 | 48884028 | Frame-shift |
| ENST00000523944 | 48883900 | 48884028 | Frame-shift |
| ENST00000262105 | 48875504 | 48875600 | In-frame |
| ENST00000523944 | 48875504 | 48875600 | 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 |
| ENST00000523944 | 48873690 | 48873774 | 5CDS-5UTR |
| ENST00000262105 | 48878746 | 48878967 | Frame-shift |
| ENST00000523944 | 48878746 | 48878967 | Frame-shift |
| ENST00000262105 | 48883900 | 48884028 | Frame-shift |
| ENST00000523944 | 48883900 | 48884028 | Frame-shift |
| ENST00000262105 | 48875504 | 48875600 | In-frame |
| ENST00000523944 | 48875504 | 48875600 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCM4 |
| 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 |
| ENST00000262105 | 4200 | 863 | 48875504 | 48875600 | 807 | 902 | 199 | 231 |
| ENST00000523944 | 4122 | 863 | 48875504 | 48875600 | 729 | 824 | 199 | 231 |
| 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 |
| ENST00000262105 | 4200 | 863 | 48875504 | 48875600 | 807 | 902 | 199 | 231 |
| ENST00000523944 | 4122 | 863 | 48875504 | 48875600 | 729 | 824 | 199 | 231 |
| 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 |
| P33991 | 199 | 231 | 2 | 863 | Chain | ID=PRO_0000194101;Note=DNA replication licensing factor MCM4 |
| P33991 | 199 | 231 | 2 | 863 | Chain | ID=PRO_0000194101;Note=DNA replication licensing factor MCM4 |
| P33991 | 199 | 231 | 220 | 220 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P33991 | 199 | 231 | 220 | 220 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P33991 | 199 | 231 | 206 | 206 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P33991 | 199 | 231 | 206 | 206 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P33991 | 199 | 231 | 2 | 863 | Chain | ID=PRO_0000194101;Note=DNA replication licensing factor MCM4 |
| P33991 | 199 | 231 | 2 | 863 | Chain | ID=PRO_0000194101;Note=DNA replication licensing factor MCM4 |
| P33991 | 199 | 231 | 220 | 220 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P33991 | 199 | 231 | 220 | 220 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P33991 | 199 | 231 | 206 | 206 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P33991 | 199 | 231 | 206 | 206 | Sequence conflict | Note=P->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for MCM4 |
| - 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_483523 | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_483523 | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| STAD | TCGA-BR-7707-01 | exon_skip_483523 | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.P626fs |
| STAD | TCGA-CG-5726-01 | exon_skip_483523 | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.P626fs |
| UCEC | TCGA-D1-A101-01 | exon_skip_483523 | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K627fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_483523 | 48883901 | 48884028 | 48883978 | 48883979 | Frame_Shift_Ins | - | A | p.P626fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_483523 | 48883901 | 48884028 | 48883979 | 48883980 | Frame_Shift_Ins | - | A | p.P626fs |
| DLBC | TCGA-FM-8000-01 | exon_skip_483517 | 48875505 | 48875600 | 48875553 | 48875553 | Nonsense_Mutation | A | T | p.K216X |
| SKCM | TCGA-EB-A551-01 | exon_skip_483518 | 48878747 | 48878835 | 48878827 | 48878827 | Nonsense_Mutation | C | T | p.Q305* |
| SKCM | TCGA-EB-A551-01 | exon_skip_483518 | 48878747 | 48878835 | 48878827 | 48878827 | Nonsense_Mutation | C | T | p.Q305X |
| SKCM | TCGA-EB-A551-01 | exon_skip_483519 | 48878747 | 48878967 | 48878827 | 48878827 | Nonsense_Mutation | C | T | p.Q305* |
| SKCM | TCGA-EB-A551-01 | exon_skip_483519 | 48878747 | 48878967 | 48878827 | 48878827 | Nonsense_Mutation | C | T | p.Q305X |
| - 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 |
| C33A_CERVIX | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| EFO27_OVARY | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| JHUEM1_ENDOMETRIUM | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| CW2_LARGE_INTESTINE | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| SNU1040_LARGE_INTESTINE | 48883901 | 48884028 | 48883979 | 48883979 | Frame_Shift_Del | A | - | p.K628fs |
| CP50EBV_MATCHED_NORMAL_TISSUE | 48873691 | 48873774 | 48873723 | 48873723 | Missense_Mutation | A | C | p.T7P |
| CP50EBV_MATCHED_NORMAL_TISSUE | 48873691 | 48873986 | 48873723 | 48873723 | Missense_Mutation | A | C | p.T7P |
| MKN7_STOMACH | 48873691 | 48873774 | 48873751 | 48873751 | Missense_Mutation | G | A | p.G16E |
| MKN7_STOMACH | 48873691 | 48873986 | 48873751 | 48873751 | Missense_Mutation | G | A | p.G16E |
| HCT116_LARGE_INTESTINE | 48873691 | 48873774 | 48873766 | 48873766 | Missense_Mutation | C | T | p.A21V |
| HCT116_LARGE_INTESTINE | 48873691 | 48873986 | 48873766 | 48873766 | Missense_Mutation | C | T | p.A21V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48875505 | 48875600 | 48875559 | 48875559 | Missense_Mutation | T | C | p.F218L |
| HEC1A_ENDOMETRIUM | 48878747 | 48878967 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| HEC1A_ENDOMETRIUM | 48878747 | 48878835 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| HEC1_ENDOMETRIUM | 48878747 | 48878967 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| HEC1_ENDOMETRIUM | 48878747 | 48878835 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| HEC1B_ENDOMETRIUM | 48878747 | 48878967 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| HEC1B_ENDOMETRIUM | 48878747 | 48878835 | 48878773 | 48878773 | Missense_Mutation | G | A | p.G287S |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48878747 | 48878967 | 48878869 | 48878869 | Missense_Mutation | C | T | p.R319C |
| HEC1A_ENDOMETRIUM | 48878747 | 48878967 | 48878876 | 48878876 | Missense_Mutation | G | A | p.R321H |
| AN3CA_ENDOMETRIUM | 48878747 | 48878967 | 48878893 | 48878893 | Missense_Mutation | G | A | p.V327M |
| TE441T_SOFT_TISSUE | 48878747 | 48878967 | 48878902 | 48878902 | Missense_Mutation | C | T | p.R330C |
| IGROV1_OVARY | 48878747 | 48878967 | 48878903 | 48878903 | Missense_Mutation | G | A | p.R330H |
| NCIH1993_LUNG | 48878747 | 48878967 | 48878903 | 48878903 | Missense_Mutation | G | C | p.R330P |
| IM95_STOMACH | 48878747 | 48878967 | 48878942 | 48878942 | Missense_Mutation | G | A | p.R343H |
| HEC1A_ENDOMETRIUM | 48878747 | 48878967 | 48878956 | 48878956 | Missense_Mutation | G | A | p.D348N |
| HEC1_ENDOMETRIUM | 48878747 | 48878967 | 48878956 | 48878956 | Missense_Mutation | G | A | p.D348N |
| HEC1B_ENDOMETRIUM | 48878747 | 48878967 | 48878956 | 48878956 | Missense_Mutation | G | A | p.D348N |
| KMH2_THYROID | 48883901 | 48884028 | 48883935 | 48883935 | Missense_Mutation | C | G | p.S612C |
| SNU1040_LARGE_INTESTINE | 48883901 | 48884028 | 48883943 | 48883943 | Missense_Mutation | G | A | p.A615T |
| TUHR4TKB_KIDNEY | 48883901 | 48884028 | 48883944 | 48883944 | Missense_Mutation | C | T | p.A615V |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48878747 | 48878967 | 48878755 | 48878755 | Nonsense_Mutation | C | T | p.Q281* |
| KE97_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48878747 | 48878835 | 48878755 | 48878755 | Nonsense_Mutation | C | T | p.Q281* |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48878747 | 48878967 | 48878755 | 48878755 | Nonsense_Mutation | C | T | p.Q281* |
| KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 48878747 | 48878835 | 48878755 | 48878755 | Nonsense_Mutation | C | T | p.Q281* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCM4 |
| 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 MCM4 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCM4 |
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RelatedDrugs for MCM4 |
| 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 MCM4 |
| 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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