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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 GMNN |
 Gene summary |
| Gene information | Gene symbol | GMNN | Gene ID | 51053 |
| Gene name | geminin, DNA replication inhibitor | |
| Synonyms | Gem|MGORS6 | |
| Cytomap | 6p22.3 | |
| Type of gene | protein-coding | |
| Description | geminin | |
| Modification date | 20180522 | |
| UniProtAcc | O75496 | |
| Context | PubMed: GMNN [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 |
| GMNN | GO:0008156 | negative regulation of DNA replication | 9635433 |
| GMNN | GO:0035563 | positive regulation of chromatin binding | 11125146 |
| GMNN | GO:0045786 | negative regulation of cell cycle | 9635433 |
| GMNN | GO:0045892 | negative regulation of transcription, DNA-templated | 16924111 |
| GMNN | GO:0071163 | DNA replication preinitiation complex assembly | 11125146 |
| GMNN | GO:2000104 | negative regulation of DNA-dependent DNA replication | 11125146 |
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Exon skipping events across known transcript of Ensembl for GMNN 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 GMNN |
| 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 GMNN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448250 | 6 | 24775165:24775472:24777449:24777525:24780890:24780968 | 24777449:24777525 | ENSG00000112312.5 | ENST00000230056.3 |
| exon_skip_448251 | 6 | 24784314:24784397:24784671:24784782:24785865:24785935 | 24784671:24784782 | ENSG00000112312.5 | ENST00000230056.3,ENST00000378054.2,ENST00000356509.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GMNN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448250 | 6 | 24775165:24775472:24777449:24777525:24780890:24780968 | 24777449:24777525 | ENSG00000112312.5 | ENST00000230056.3 |
| exon_skip_448251 | 6 | 24784314:24784397:24784671:24784782:24785865:24785935 | 24784671:24784782 | ENSG00000112312.5 | ENST00000356509.3,ENST00000230056.3,ENST00000378054.2 |
| 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 GMNN |
| 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 |
| ENST00000230056 | 24777449 | 24777525 | 5CDS-5UTR |
| ENST00000230056 | 24784671 | 24784782 | In-frame |
| ENST00000356509 | 24784671 | 24784782 | 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 |
| ENST00000230056 | 24777449 | 24777525 | 5CDS-5UTR |
| ENST00000230056 | 24784671 | 24784782 | In-frame |
| ENST00000356509 | 24784671 | 24784782 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GMNN |
| 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 |
| ENST00000230056 | 1279 | 209 | 24784671 | 24784782 | 690 | 800 | 119 | 156 |
| ENST00000356509 | 1150 | 209 | 24784671 | 24784782 | 565 | 675 | 119 | 156 |
| 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 |
| ENST00000230056 | 1279 | 209 | 24784671 | 24784782 | 690 | 800 | 119 | 156 |
| ENST00000356509 | 1150 | 209 | 24784671 | 24784782 | 565 | 675 | 119 | 156 |
| 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 |
| O75496 | 119 | 156 | 1 | 209 | Chain | ID=PRO_0000148729;Note=Geminin |
| O75496 | 119 | 156 | 1 | 209 | Chain | ID=PRO_0000148729;Note=Geminin |
| O75496 | 119 | 156 | 94 | 144 | Coiled coil | Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15260975,ECO:0000269|PubMed:15313623,ECO:0000269|PubMed:15378034,ECO:0000269|PubMed:24064211;Dbxref=PMID:15260975,PMID:15313623,PMID:15378034,PMID:24064211 |
| O75496 | 119 | 156 | 94 | 144 | Coiled coil | Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15260975,ECO:0000269|PubMed:15313623,ECO:0000269|PubMed:15378034,ECO:0000269|PubMed:24064211;Dbxref=PMID:15260975,PMID:15313623,PMID:15378034,PMID:24064211 |
| O75496 | 119 | 156 | 110 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T6F |
| O75496 | 119 | 156 | 110 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T6F |
| O75496 | 119 | 156 | 82 | 161 | Region | Note=Necessary and sufficient for interaction with IDAS and CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21543332;Dbxref=PMID:21543332 |
| O75496 | 119 | 156 | 82 | 161 | Region | Note=Necessary and sufficient for interaction with IDAS and CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21543332;Dbxref=PMID:21543332 |
| 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 |
| O75496 | 119 | 156 | 1 | 209 | Chain | ID=PRO_0000148729;Note=Geminin |
| O75496 | 119 | 156 | 1 | 209 | Chain | ID=PRO_0000148729;Note=Geminin |
| O75496 | 119 | 156 | 94 | 144 | Coiled coil | Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15260975,ECO:0000269|PubMed:15313623,ECO:0000269|PubMed:15378034,ECO:0000269|PubMed:24064211;Dbxref=PMID:15260975,PMID:15313623,PMID:15378034,PMID:24064211 |
| O75496 | 119 | 156 | 94 | 144 | Coiled coil | Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15260975,ECO:0000269|PubMed:15313623,ECO:0000269|PubMed:15378034,ECO:0000269|PubMed:24064211;Dbxref=PMID:15260975,PMID:15313623,PMID:15378034,PMID:24064211 |
| O75496 | 119 | 156 | 110 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T6F |
| O75496 | 119 | 156 | 110 | 142 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1T6F |
| O75496 | 119 | 156 | 82 | 161 | Region | Note=Necessary and sufficient for interaction with IDAS and CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21543332;Dbxref=PMID:21543332 |
| O75496 | 119 | 156 | 82 | 161 | Region | Note=Necessary and sufficient for interaction with IDAS and CDT1;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21543332;Dbxref=PMID:21543332 |
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SNVs in the skipped exons for GMNN |
| - 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 |
| STAD | TCGA-BR-8680-01 | exon_skip_448251 | 24784672 | 24784782 | 24784681 | 24784681 | Nonsense_Mutation | G | T | p.E123* |
| STAD | TCGA-BR-8680-01 | exon_skip_448251 | 24784672 | 24784782 | 24784681 | 24784681 | Nonsense_Mutation | G | T | p.E123X |
| HNSC | TCGA-CQ-A4C7-01 | exon_skip_448251 | 24784672 | 24784782 | 24784759 | 24784759 | Nonsense_Mutation | C | T | p.Q149* |
| - 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 |
| SNU1041_UPPER_AERODIGESTIVE_TRACT | 24784672 | 24784782 | 24784675 | 24784676 | Frame_Shift_Ins | - | A | p.H121fs |
| KMRC3_KIDNEY | 24784672 | 24784782 | 24784712 | 24784712 | Missense_Mutation | G | A | p.R133H |
| HT3_CERVIX | 24784672 | 24784782 | 24784712 | 24784712 | Missense_Mutation | G | A | p.R133H |
| DMS454_LUNG | 24777450 | 24777525 | 24777490 | 24777490 | Nonsense_Mutation | A | T | p.K6* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GMNN |
| 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 GMNN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GMNN |
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RelatedDrugs for GMNN |
| 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 GMNN |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| GMNN | C4225188 | MEIER-GORLIN SYNDROME 6 | 1 | UNIPROT |
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