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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 GINS1 |
 Gene summary |
| Gene information | Gene symbol | GINS1 | Gene ID | 9837 |
| Gene name | GINS complex subunit 1 | |
| Synonyms | IMD55|PSF1 | |
| Cytomap | 20p11.21 | |
| Type of gene | protein-coding | |
| Description | DNA replication complex GINS protein PSF1GINS complex subunit 1 (Psf1 homolog)partner of sld five-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q14691 | |
| Context | PubMed: GINS1 [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 GINS1 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 GINS1 |
| 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 GINS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349737 | 20 | 25388366:25388531:25391759:25391922:25394425:25394490 | 25391759:25391922 | ENSG00000101003.8 | ENST00000484893.1 |
| exon_skip_349738 | 20 | 25388366:25388531:25394425:25394490:25397739:25397838 | 25394425:25394490 | ENSG00000101003.8 | ENST00000429262.2 |
| exon_skip_349747 | 20 | 25397739:25397838:25398740:25398831:25405846:25405963 | 25398740:25398831 | ENSG00000101003.8 | ENST00000262460.4 |
| exon_skip_349751 | 20 | 25398740:25398831:25400319:25400441:25405846:25405963 | 25400319:25400441 | ENSG00000101003.8 | ENST00000429262.2 |
| exon_skip_349754 | 20 | 25398740:25398831:25405846:25405963:25422337:25422412 | 25405846:25405963 | ENSG00000101003.8 | ENST00000262460.4 |
| exon_skip_349755 | 20 | 25400319:25400441:25405846:25405963:25422337:25422412 | 25405846:25405963 | ENSG00000101003.8 | ENST00000429262.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for GINS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_349737 | 20 | 25388366:25388531:25391759:25391922:25394425:25394490 | 25391759:25391922 | ENSG00000101003.8 | ENST00000484893.1 |
| exon_skip_349738 | 20 | 25388366:25388531:25394425:25394490:25397739:25397838 | 25394425:25394490 | ENSG00000101003.8 | ENST00000429262.2 |
| exon_skip_349747 | 20 | 25397739:25397838:25398740:25398831:25405846:25405963 | 25398740:25398831 | ENSG00000101003.8 | ENST00000262460.4 |
| exon_skip_349751 | 20 | 25398740:25398831:25400319:25400441:25405846:25405963 | 25400319:25400441 | ENSG00000101003.8 | ENST00000429262.2 |
| exon_skip_349754 | 20 | 25398740:25398831:25405846:25405963:25422337:25422412 | 25405846:25405963 | ENSG00000101003.8 | ENST00000262460.4 |
| exon_skip_349755 | 20 | 25400319:25400441:25405846:25405963:25422337:25422412 | 25405846:25405963 | ENSG00000101003.8 | ENST00000429262.2 |
| 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 GINS1 |
| 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 |
| ENST00000262460 | 25398740 | 25398831 | Frame-shift |
| ENST00000262460 | 25405846 | 25405963 | 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 |
| ENST00000262460 | 25398740 | 25398831 | Frame-shift |
| ENST00000262460 | 25405846 | 25405963 | In-frame |
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Infer the effects of exon skipping event on protein functional features for GINS1 |
| 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 |
| ENST00000262460 | 3266 | 196 | 25405846 | 25405963 | 425 | 541 | 110 | 149 |
| 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 |
| ENST00000262460 | 3266 | 196 | 25405846 | 25405963 | 425 | 541 | 110 | 149 |
| 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 |
| Q14691 | 110 | 149 | 128 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9X |
| Q14691 | 110 | 149 | 1 | 196 | Chain | ID=PRO_0000219035;Note=DNA replication complex GINS protein PSF1 |
| Q14691 | 110 | 149 | 108 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9X |
| 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 |
| Q14691 | 110 | 149 | 128 | 132 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9X |
| Q14691 | 110 | 149 | 1 | 196 | Chain | ID=PRO_0000219035;Note=DNA replication complex GINS protein PSF1 |
| Q14691 | 110 | 149 | 108 | 127 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2E9X |
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SNVs in the skipped exons for GINS1 |
| - 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-A39Y-01 | exon_skip_349747 | 25398741 | 25398831 | 25398819 | 25398819 | Frame_Shift_Del | G | - | p.M106fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_349755 exon_skip_349754 | 25405847 | 25405963 | 25405867 | 25405868 | Frame_Shift_Ins | - | A | p.*K117fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_349755 exon_skip_349754 | 25405847 | 25405963 | 25405867 | 25405868 | Frame_Shift_Ins | - | A | p.Y117fs |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_349738 | 25394426 | 25394490 | 25394432 | 25394432 | Nonsense_Mutation | G | T | p.G28* |
| STAD | TCGA-VQ-A91V-01 | exon_skip_349747 | 25398741 | 25398831 | 25398808 | 25398808 | Nonsense_Mutation | C | T | p.R103* |
| STAD | TCGA-VQ-A91V-01 | exon_skip_349747 | 25398741 | 25398831 | 25398808 | 25398808 | Nonsense_Mutation | C | T | p.R103X |
| LUAD | TCGA-73-4668-01 | exon_skip_349755 exon_skip_349754 | 25405847 | 25405963 | 25405910 | 25405910 | Nonsense_Mutation | G | T | p.E132* |
| BLCA | TCGA-CU-A0YO-01 | exon_skip_349755 exon_skip_349754 | 25405847 | 25405963 | 25405846 | 25405846 | Splice_Site | G | A | p.M111_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 |
| HEC265_ENDOMETRIUM | 25405847 | 25405963 | 25405953 | 25405956 | Frame_Shift_Del | TATA | - | p.LY146fs |
| SNU520_STOMACH | 25405847 | 25405963 | 25405944 | 25405945 | Frame_Shift_Ins | - | A | p.PK143fs |
| SARC9371_BONE | 25394426 | 25394490 | 25394453 | 25394453 | Missense_Mutation | G | A | p.E35K |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25398741 | 25398831 | 25398806 | 25398806 | Missense_Mutation | T | C | p.L102S |
| JHUEM7_ENDOMETRIUM | 25398741 | 25398831 | 25398809 | 25398809 | Missense_Mutation | G | A | p.R103Q |
| HEMCSS_BONE | 25398741 | 25398831 | 25398809 | 25398809 | Missense_Mutation | G | A | p.R103Q |
| SNU1040_LARGE_INTESTINE | 25405847 | 25405963 | 25405895 | 25405895 | Missense_Mutation | T | C | p.S127P |
| MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 25405847 | 25405963 | 25405932 | 25405932 | Missense_Mutation | A | G | p.D139G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for GINS1 |
| 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 GINS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for GINS1 |
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RelatedDrugs for GINS1 |
| 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 GINS1 |
| 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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