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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 MCM3 |
 Gene summary |
| Gene information | Gene symbol | MCM3 | Gene ID | 4172 |
| Gene name | minichromosome maintenance complex component 3 | |
| Synonyms | HCC5|P1-MCM3|P1.h|RLFB | |
| Cytomap | 6p12.2 | |
| Type of gene | protein-coding | |
| Description | DNA replication licensing factor MCM3DNA polymerase alpha holoenzyme-associated protein P1DNA replication factor MCM3MCM3 minichromosome maintenance deficient 3RLF subunit betacervical cancer proto-oncogene 5hRlf beta subunitminichromosome maintena | |
| Modification date | 20180519 | |
| UniProtAcc | P25205 | |
| Context | PubMed: MCM3 [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 MCM3 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 MCM3 |
| 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 MCM3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460101 | 6 | 52129418:52129584:52130032:52130183:52130872:52130928 | 52130032:52130183 | ENSG00000112118.13 | ENST00000421471.1 |
| exon_skip_460105 | 6 | 52130872:52130942:52131408:52131494:52132662:52132766 | 52131408:52131494 | ENSG00000112118.13 | ENST00000596288.1,ENST00000419835.2,ENST00000421471.1,ENST00000229854.7 |
| exon_skip_460109 | 6 | 52132662:52132766:52133883:52134024:52137098:52137249 | 52133883:52134024 | ENSG00000112118.13 | ENST00000596288.1,ENST00000419835.2,ENST00000421471.1,ENST00000229854.7 |
| exon_skip_460116 | 6 | 52137098:52137249:52138027:52138154:52138539:52138573 | 52138027:52138154 | ENSG00000112118.13 | ENST00000596288.1,ENST00000419835.2,ENST00000421471.1,ENST00000229854.7 |
| exon_skip_460119 | 6 | 52138539:52138714:52141065:52141274:52141864:52141996 | 52141065:52141274 | ENSG00000112118.13 | ENST00000596288.1,ENST00000419835.2,ENST00000229854.7 |
| exon_skip_460125 | 6 | 52141065:52141274:52141864:52141996:52142332:52142486 | 52141864:52141996 | ENSG00000112118.13 | ENST00000596288.1,ENST00000476448.1,ENST00000419835.2,ENST00000229854.7 |
| exon_skip_460126 | 6 | 52141864:52141996:52142332:52142486:52143539:52143648 | 52142332:52142486 | ENSG00000112118.13 | ENST00000596288.1,ENST00000476448.1,ENST00000419835.2,ENST00000229854.7 |
| exon_skip_460131 | 6 | 52147450:52147659:52148091:52148204:52149394:52149505 | 52148091:52148204 | ENSG00000112118.13 | ENST00000596288.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MCM3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_460101 | 6 | 52129418:52129584:52130032:52130183:52130872:52130928 | 52130032:52130183 | ENSG00000112118.13 | ENST00000421471.1 |
| exon_skip_460105 | 6 | 52130872:52130942:52131408:52131494:52132662:52132766 | 52131408:52131494 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2,ENST00000421471.1 |
| exon_skip_460109 | 6 | 52132662:52132766:52133883:52134024:52137098:52137249 | 52133883:52134024 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2,ENST00000421471.1 |
| exon_skip_460116 | 6 | 52137098:52137249:52138027:52138154:52138539:52138573 | 52138027:52138154 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2,ENST00000421471.1 |
| exon_skip_460119 | 6 | 52138539:52138714:52141065:52141274:52141864:52141996 | 52141065:52141274 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2 |
| exon_skip_460125 | 6 | 52141065:52141274:52141864:52141996:52142332:52142486 | 52141864:52141996 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2,ENST00000476448.1 |
| exon_skip_460126 | 6 | 52141864:52141996:52142332:52142486:52143539:52143648 | 52142332:52142486 | ENSG00000112118.13 | ENST00000229854.7,ENST00000596288.1,ENST00000419835.2,ENST00000476448.1 |
| exon_skip_460131 | 6 | 52147450:52147659:52148091:52148204:52149394:52149505 | 52148091:52148204 | ENSG00000112118.13 | ENST00000596288.1 |
| 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 MCM3 |
| 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 |
| ENST00000229854 | 52131408 | 52131494 | Frame-shift |
| ENST00000229854 | 52138027 | 52138154 | Frame-shift |
| ENST00000229854 | 52141065 | 52141274 | Frame-shift |
| ENST00000229854 | 52142332 | 52142486 | Frame-shift |
| ENST00000229854 | 52133883 | 52134024 | In-frame |
| ENST00000229854 | 52141864 | 52141996 | 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 |
| ENST00000229854 | 52131408 | 52131494 | Frame-shift |
| ENST00000229854 | 52138027 | 52138154 | Frame-shift |
| ENST00000229854 | 52141065 | 52141274 | Frame-shift |
| ENST00000229854 | 52142332 | 52142486 | Frame-shift |
| ENST00000229854 | 52133883 | 52134024 | In-frame |
| ENST00000229854 | 52141864 | 52141996 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCM3 |
| 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 |
| ENST00000229854 | 3100 | 808 | 52141864 | 52141996 | 1111 | 1242 | 344 | 388 |
| ENST00000229854 | 3100 | 808 | 52133883 | 52134024 | 1905 | 2045 | 609 | 656 |
| 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 |
| ENST00000229854 | 3100 | 808 | 52141864 | 52141996 | 1111 | 1242 | 344 | 388 |
| ENST00000229854 | 3100 | 808 | 52133883 | 52134024 | 1905 | 2045 | 609 | 656 |
| 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 |
| P25205 | 344 | 388 | 2 | 808 | Chain | ID=PRO_0000194093;Note=DNA replication licensing factor MCM3 |
| P25205 | 344 | 388 | 295 | 502 | Domain | Note=MCM |
| P25205 | 344 | 388 | 345 | 352 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25205 | 609 | 656 | 2 | 808 | Chain | ID=PRO_0000194093;Note=DNA replication licensing factor MCM3 |
| P25205 | 609 | 656 | 611 | 611 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| 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 |
| P25205 | 344 | 388 | 2 | 808 | Chain | ID=PRO_0000194093;Note=DNA replication licensing factor MCM3 |
| P25205 | 344 | 388 | 295 | 502 | Domain | Note=MCM |
| P25205 | 344 | 388 | 345 | 352 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P25205 | 609 | 656 | 2 | 808 | Chain | ID=PRO_0000194093;Note=DNA replication licensing factor MCM3 |
| P25205 | 609 | 656 | 611 | 611 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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SNVs in the skipped exons for MCM3 |
| - 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 |
| HNSC | TCGA-KU-A66S-01 | exon_skip_460125 | 52141865 | 52141996 | 52141929 | 52141929 | Frame_Shift_Del | G | - | p.P412fs |
| ESCA | TCGA-VR-AA7B-01 | exon_skip_460126 | 52142333 | 52142486 | 52142452 | 52142470 | Frame_Shift_Del | GGGGCCAATGACTTGGCCA | - | p.344_350del |
| ESCA | TCGA-VR-AA7B-01 | exon_skip_460126 | 52142333 | 52142486 | 52142452 | 52142470 | Frame_Shift_Del | GGGGCCAATGACTTGGCCA | - | p.LAKSLAP344fs |
| ESCA | TCGA-VR-AA4D-01 | exon_skip_460116 | 52138028 | 52138154 | 52138086 | 52138086 | Nonsense_Mutation | G | A | p.Q585X |
| READ | TCGA-AG-A002-01 | exon_skip_460119 | 52141066 | 52141274 | 52141212 | 52141212 | Nonsense_Mutation | C | A | p.E410X |
| GBM | TCGA-19-4068-01 | exon_skip_460125 | 52141865 | 52141996 | 52141940 | 52141940 | Nonsense_Mutation | G | A | p.R364* |
| HNSC | TCGA-CN-4723-01 | exon_skip_460109 | 52133884 | 52134024 | 52133882 | 52133882 | Splice_Site | A | G | p.K656_splice |
| - 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 |
| U937_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52133884 | 52134024 | 52133990 | 52133991 | Frame_Shift_Del | AG | - | p.L621fs |
| 22RV1_PROSTATE | 52148092 | 52148204 | 52148109 | 52148110 | Frame_Shift_Ins | - | T | p.N58fs |
| EFO27_OVARY | 52131409 | 52131494 | 52131457 | 52131457 | Missense_Mutation | A | G | p.S704P |
| HCC2450_LUNG | 52133884 | 52134024 | 52133976 | 52133976 | Missense_Mutation | T | A | p.T626S |
| RH36_SOFT_TISSUE | 52133884 | 52134024 | 52133984 | 52133984 | Missense_Mutation | C | G | p.R623P |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52133884 | 52134024 | 52134009 | 52134009 | Missense_Mutation | C | T | p.A615T |
| HEC1_ENDOMETRIUM | 52133884 | 52134024 | 52134020 | 52134020 | Missense_Mutation | G | T | p.S611Y |
| TC71_BONE | 52138028 | 52138154 | 52138035 | 52138035 | Missense_Mutation | T | C | p.K557E |
| PATU8902_PANCREAS | 52138028 | 52138154 | 52138065 | 52138065 | Missense_Mutation | T | G | p.K547Q |
| ANGMCSS_CENTRAL_NERVOUS_SYSTEM | 52138028 | 52138154 | 52138106 | 52138106 | Missense_Mutation | T | A | p.N533I |
| M980513_SKIN | 52138028 | 52138154 | 52138136 | 52138136 | Missense_Mutation | G | A | p.A523V |
| MZ7MEL_SKIN | 52141066 | 52141274 | 52141167 | 52141167 | Missense_Mutation | C | T | p.V425M |
| SNU1040_LARGE_INTESTINE | 52141066 | 52141274 | 52141184 | 52141184 | Missense_Mutation | C | T | p.R419H |
| GP2D_LARGE_INTESTINE | 52141066 | 52141274 | 52141227 | 52141227 | Missense_Mutation | C | T | p.V405M |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52141865 | 52141996 | 52141918 | 52141918 | Missense_Mutation | C | T | p.R371Q |
| TC32_BONE | 52141865 | 52141996 | 52141960 | 52141960 | Missense_Mutation | T | C | p.Y357C |
| CCK81_LARGE_INTESTINE | 52142333 | 52142486 | 52142456 | 52142456 | Missense_Mutation | C | G | p.A304P |
| SW48_LARGE_INTESTINE | 52148092 | 52148204 | 52148099 | 52148099 | Missense_Mutation | C | T | p.A62T |
| M980513_SKIN | 52148092 | 52148204 | 52148101 | 52148101 | Missense_Mutation | C | T | p.R61K |
| KM12_LARGE_INTESTINE | 52148092 | 52148204 | 52148119 | 52148119 | Missense_Mutation | C | T | p.R55H |
| BCP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52131409 | 52131494 | 52131412 | 52131412 | Nonsense_Mutation | G | A | p.Q719* |
| HEC108_ENDOMETRIUM | 52138028 | 52138154 | 52138089 | 52138089 | Nonsense_Mutation | G | A | p.Q539* |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52148092 | 52148204 | 52148092 | 52148092 | Splice_Site | C | T | p.R64Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCM3 |
| 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 MCM3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCM3 |
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RelatedDrugs for MCM3 |
| 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 MCM3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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