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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 SIMC1 |
 Gene summary |
| Gene information | Gene symbol | SIMC1 | Gene ID | 375484 |
| Gene name | SUMO interacting motifs containing 1 | |
| Synonyms | C5orf25|OOMA1|PLEIAD | |
| Cytomap | 5q35.2 | |
| Type of gene | protein-coding | |
| Description | SUMO-interacting motif-containing protein 1oocyte maturation associated 1platform element for inhibition of autolytic degradation | |
| Modification date | 20180523 | |
| UniProtAcc | Q8NDZ2 | |
| Context | PubMed: SIMC1 [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 SIMC1 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 SIMC1 |
| 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 SIMC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439838 | 5 | 175665509:175665640:175697393:175697523:175716656:175716802 | 175697393:175697523 | ENSG00000170085.13 | ENST00000508769.1 |
| exon_skip_439839 | 5 | 175665509:175665640:175716656:175717958:175722032:175722080 | 175716656:175717958 | ENSG00000170085.13 | ENST00000429602.2 |
| exon_skip_439841 | 5 | 175665509:175665640:175722032:175722265:175723253:175723323 | 175722032:175722265 | ENSG00000170085.13 | ENST00000430704.2,ENST00000495423.1 |
| exon_skip_439848 | 5 | 175716656:175717958:175722032:175722265:175723253:175723323 | 175722032:175722265 | ENSG00000170085.13 | ENST00000429602.2,ENST00000443967.1 |
| exon_skip_439849 | 5 | 175740693:175740848:175749275:175749428:175751631:175751760 | 175749275:175749428 | ENSG00000170085.13 | ENST00000430704.2,ENST00000341199.6,ENST00000332772.4,ENST00000443967.1 |
| exon_skip_439852 | 5 | 175749275:175749428:175751631:175751760:175763722:175763879 | 175751631:175751760 | ENSG00000170085.13 | ENST00000430704.2,ENST00000341199.6,ENST00000332772.4,ENST00000443967.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SIMC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_439838 | 5 | 175665509:175665640:175697393:175697523:175716656:175716802 | 175697393:175697523 | ENSG00000170085.13 | ENST00000508769.1 |
| exon_skip_439839 | 5 | 175665509:175665640:175716656:175717958:175722032:175722080 | 175716656:175717958 | ENSG00000170085.13 | ENST00000429602.2 |
| exon_skip_439841 | 5 | 175665509:175665640:175722032:175722265:175723253:175723323 | 175722032:175722265 | ENSG00000170085.13 | ENST00000430704.2,ENST00000495423.1 |
| exon_skip_439848 | 5 | 175716656:175717958:175722032:175722265:175723253:175723323 | 175722032:175722265 | ENSG00000170085.13 | ENST00000443967.1,ENST00000429602.2 |
| exon_skip_439849 | 5 | 175740693:175740848:175749275:175749428:175751631:175751760 | 175749275:175749428 | ENSG00000170085.13 | ENST00000341199.6,ENST00000430704.2,ENST00000443967.1,ENST00000332772.4 |
| exon_skip_439852 | 5 | 175749275:175749428:175751631:175751760:175763722:175763879 | 175751631:175751760 | ENSG00000170085.13 | ENST00000341199.6,ENST00000430704.2,ENST00000443967.1,ENST00000332772.4 |
| 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 SIMC1 |
| 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 |
| ENST00000443967 | 175722032 | 175722265 | Frame-shift |
| ENST00000443967 | 175749275 | 175749428 | In-frame |
| ENST00000443967 | 175751631 | 175751760 | 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 |
| ENST00000443967 | 175722032 | 175722265 | Frame-shift |
| ENST00000443967 | 175749275 | 175749428 | In-frame |
| ENST00000443967 | 175751631 | 175751760 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SIMC1 |
| 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 |
| ENST00000443967 | 3589 | 872 | 175749275 | 175749428 | 2240 | 2392 | 611 | 661 |
| ENST00000443967 | 3589 | 872 | 175751631 | 175751760 | 2393 | 2521 | 662 | 704 |
| 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 |
| ENST00000443967 | 3589 | 872 | 175749275 | 175749428 | 2240 | 2392 | 611 | 661 |
| ENST00000443967 | 3589 | 872 | 175751631 | 175751760 | 2393 | 2521 | 662 | 704 |
| 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 |
| Q8NDZ2 | 611 | 661 | 416 | 872 | Alternative sequence | ID=VSP_020675;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NDZ2 | 611 | 661 | 1 | 872 | Chain | ID=PRO_0000250581;Note=SUMO-interacting motif-containing protein 1 |
| Q8NDZ2 | 611 | 661 | 636 | 636 | Natural variant | ID=VAR_059603;Note=S->F;Dbxref=dbSNP:rs2001605 |
| Q8NDZ2 | 662 | 704 | 416 | 872 | Alternative sequence | ID=VSP_020675;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NDZ2 | 662 | 704 | 1 | 872 | Chain | ID=PRO_0000250581;Note=SUMO-interacting motif-containing protein 1 |
| Q8NDZ2 | 662 | 704 | 693 | 693 | Sequence conflict | Note=F->L;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 |
| Q8NDZ2 | 611 | 661 | 416 | 872 | Alternative sequence | ID=VSP_020675;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NDZ2 | 611 | 661 | 1 | 872 | Chain | ID=PRO_0000250581;Note=SUMO-interacting motif-containing protein 1 |
| Q8NDZ2 | 611 | 661 | 636 | 636 | Natural variant | ID=VAR_059603;Note=S->F;Dbxref=dbSNP:rs2001605 |
| Q8NDZ2 | 662 | 704 | 416 | 872 | Alternative sequence | ID=VSP_020675;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q8NDZ2 | 662 | 704 | 1 | 872 | Chain | ID=PRO_0000250581;Note=SUMO-interacting motif-containing protein 1 |
| Q8NDZ2 | 662 | 704 | 693 | 693 | Sequence conflict | Note=F->L;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for SIMC1 |
| - 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-BA-5559-01 | exon_skip_439839 | 175716657 | 175717958 | 175717758 | 175717759 | Frame_Shift_Del | CT | - | p.L392fs |
| LUAD | TCGA-91-6831-01 | exon_skip_439839 | 175716657 | 175717958 | 175717845 | 175717845 | Frame_Shift_Del | C | - | p.P421fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_439841 exon_skip_439848 | 175722033 | 175722265 | 175722043 | 175722043 | Frame_Shift_Del | A | - | p.Q462fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_439852 | 175751632 | 175751760 | 175751742 | 175751742 | Frame_Shift_Del | T | - | p.I699fs |
| LUAD | TCGA-17-Z031-01 | exon_skip_439839 | 175716657 | 175717958 | 175717056 | 175717056 | Nonsense_Mutation | C | T | p.Q158* |
| BLCA | TCGA-K4-A5RH-01 | exon_skip_439841 exon_skip_439848 | 175722033 | 175722265 | 175722261 | 175722261 | Nonsense_Mutation | C | T | p.Q535* |
| - 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 |
| SARC9371_BONE | 175716657 | 175717958 | 175716714 | 175716715 | Frame_Shift_Del | TA | - | p.Y44fs |
| RH28_SOFT_TISSUE | 175716657 | 175717958 | 175717101 | 175717112 | In_Frame_Del | AGTAGGAGCAGC | - | p.SRSS173del |
| SNU175_LARGE_INTESTINE | 175722033 | 175722265 | 175722081 | 175722082 | In_Frame_Ins | - | TAA | p.475_476insI |
| HEC251_ENDOMETRIUM | 175716657 | 175717958 | 175716702 | 175716702 | Missense_Mutation | C | T | p.R40C |
| JHUEM7_ENDOMETRIUM | 175716657 | 175717958 | 175716702 | 175716702 | Missense_Mutation | C | T | p.R40C |
| EVSAT_BREAST | 175716657 | 175717958 | 175716740 | 175716740 | Missense_Mutation | G | T | p.E52D |
| HT115_LARGE_INTESTINE | 175716657 | 175717958 | 175716807 | 175716807 | Missense_Mutation | C | T | p.P75S |
| HCT15_LARGE_INTESTINE | 175716657 | 175717958 | 175716823 | 175716823 | Missense_Mutation | C | T | p.T80I |
| NCIH1694_LUNG | 175716657 | 175717958 | 175716863 | 175716863 | Missense_Mutation | C | A | p.H93Q |
| DV90_LUNG | 175716657 | 175717958 | 175716867 | 175716867 | Missense_Mutation | G | T | p.D95Y |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175716657 | 175717958 | 175717027 | 175717027 | Missense_Mutation | C | T | p.T148I |
| ISTMES1_PLEURA | 175716657 | 175717958 | 175717071 | 175717071 | Missense_Mutation | G | A | p.V163I |
| IGROV1_OVARY | 175716657 | 175717958 | 175717107 | 175717107 | Missense_Mutation | A | G | p.S175G |
| TCCPAN2_PANCREAS | 175716657 | 175717958 | 175717189 | 175717189 | Missense_Mutation | G | A | p.C202Y |
| SW982_SOFT_TISSUE | 175716657 | 175717958 | 175717240 | 175717240 | Missense_Mutation | G | A | p.R219Q |
| KYSE150_OESOPHAGUS | 175716657 | 175717958 | 175717240 | 175717240 | Missense_Mutation | G | A | p.R219Q |
| 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175716657 | 175717958 | 175717323 | 175717323 | Missense_Mutation | C | A | p.Q247K |
| SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175716657 | 175717958 | 175717332 | 175717332 | Missense_Mutation | C | T | p.P250S |
| HEC1A_ENDOMETRIUM | 175716657 | 175717958 | 175717341 | 175717341 | Missense_Mutation | C | T | p.R253W |
| HEC1_ENDOMETRIUM | 175716657 | 175717958 | 175717341 | 175717341 | Missense_Mutation | C | T | p.R253W |
| SNUC5_LARGE_INTESTINE | 175716657 | 175717958 | 175717579 | 175717579 | Missense_Mutation | A | T | p.H332L |
| HEC50B_ENDOMETRIUM | 175716657 | 175717958 | 175717660 | 175717660 | Missense_Mutation | T | C | p.V359A |
| SEKI_SKIN | 175716657 | 175717958 | 175717664 | 175717664 | Missense_Mutation | G | T | p.Q360H |
| NCIH838_LUNG | 175716657 | 175717958 | 175717722 | 175717722 | Missense_Mutation | C | T | p.P380S |
| PACADD188_PANCREAS | 175722033 | 175722265 | 175722080 | 175722080 | Missense_Mutation | G | C | p.M474I |
| GIMEN_AUTONOMIC_GANGLIA | 175749276 | 175749428 | 175749284 | 175749284 | Missense_Mutation | T | G | p.I614S |
| TE125T_FIBROBLAST | 175749276 | 175749428 | 175749331 | 175749331 | Missense_Mutation | C | A | p.P630T |
| SUDHL10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 175749276 | 175749428 | 175749404 | 175749404 | Missense_Mutation | A | C | p.N654T |
| SYO1_SOFT_TISSUE | 175751632 | 175751760 | 175751697 | 175751697 | Missense_Mutation | G | C | p.S684T |
| ONCODG1_OVARY | 175716657 | 175717958 | 175717197 | 175717197 | Nonsense_Mutation | C | T | p.R205* |
| SNU324_PANCREAS | 175716657 | 175717958 | 175717197 | 175717197 | Nonsense_Mutation | C | T | p.R205* |
| NIHOVCAR3_OVARY | 175716657 | 175717958 | 175717197 | 175717197 | Nonsense_Mutation | C | T | p.R205* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SIMC1 |
| 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 |
| exon_skip_439839 | 5 | 175665509:175665640:175716656:175717958:175722032:175722080 | 175716656:175717958 | ENST00000429602.2 | KIRC | rs72645798 | chr5:175717216 | C/T | 8.81e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIMC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SIMC1 |
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RelatedDrugs for SIMC1 |
| 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 SIMC1 |
| 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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