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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 CGN |
 Gene summary |
| Gene information | Gene symbol | CGN | Gene ID | 57530 |
| Gene name | cingulin | |
| Synonyms | - | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | cingulin | |
| Modification date | 20180522 | |
| UniProtAcc | Q9P2M7 | |
| Context | PubMed: CGN [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 CGN 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 CGN |
| 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 CGN |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10215 | 1 | 151483862:151483991:151487970:151488092:151490981:151491157 | 151487970:151488092 | ENSG00000143375.10 | ENST00000427934.2 |
| exon_skip_10217 | 1 | 151492641:151492742:151492889:151492959:151493071:151493167 | 151492889:151492959 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10220 | 1 | 151497149:151497362:151498117:151498266:151499450:151499583 | 151498117:151498266 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10222 | 1 | 151502964:151503222:151504877:151505048:151506450:151506612 | 151504877:151505048 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10233 | 1 | 151508075:151508159:151508255:151508374:151508712:151508821 | 151508255:151508374 | ENSG00000143375.10 | ENST00000271636.7,ENST00000473377.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CGN |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_10217 | 1 | 151492641:151492742:151492889:151492959:151493071:151493167 | 151492889:151492959 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10220 | 1 | 151497149:151497362:151498117:151498266:151499450:151499583 | 151498117:151498266 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10222 | 1 | 151502964:151503222:151504877:151505048:151506450:151506612 | 151504877:151505048 | ENSG00000143375.10 | ENST00000271636.7 |
| exon_skip_10233 | 1 | 151508075:151508159:151508255:151508374:151508712:151508821 | 151508255:151508374 | ENSG00000143375.10 | ENST00000271636.7,ENST00000473377.1 |
| 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 CGN |
| 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 |
| ENST00000271636 | 151492889 | 151492959 | Frame-shift |
| ENST00000271636 | 151498117 | 151498266 | Frame-shift |
| ENST00000271636 | 151508255 | 151508374 | Frame-shift |
| ENST00000271636 | 151504877 | 151505048 | 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 |
| ENST00000271636 | 151492889 | 151492959 | Frame-shift |
| ENST00000271636 | 151498117 | 151498266 | Frame-shift |
| ENST00000271636 | 151508255 | 151508374 | Frame-shift |
| ENST00000271636 | 151504877 | 151505048 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CGN |
| 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 |
| ENST00000271636 | 5108 | 1197 | 151504877 | 151505048 | 2705 | 2875 | 857 | 914 |
| 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 |
| ENST00000271636 | 5108 | 1197 | 151504877 | 151505048 | 2705 | 2875 | 857 | 914 |
| 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 |
| Q9P2M7 | 857 | 914 | 772 | 1197 | Alternative sequence | ID=VSP_037040;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9P2M7 | 857 | 914 | 1 | 1197 | Chain | ID=PRO_0000089763;Note=Cingulin |
| Q9P2M7 | 857 | 914 | 352 | 1154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9P2M7 | 857 | 914 | 772 | 1197 | Alternative sequence | ID=VSP_037040;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9P2M7 | 857 | 914 | 1 | 1197 | Chain | ID=PRO_0000089763;Note=Cingulin |
| Q9P2M7 | 857 | 914 | 352 | 1154 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CGN |
| - 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 |
| BLCA | TCGA-BT-A0YX-01 | exon_skip_10220 | 151498118 | 151498266 | 151498241 | 151498241 | Nonsense_Mutation | G | T | p.E580* |
| LUAD | TCGA-55-8506-01 | exon_skip_10222 | 151504878 | 151505048 | 151504914 | 151504914 | Nonsense_Mutation | C | T | p.Q870* |
| BLCA | TCGA-ZF-AA54-01 | exon_skip_10222 | 151504878 | 151505048 | 151504962 | 151504962 | Nonsense_Mutation | G | T | p.E886* |
| CESC | TCGA-JX-A3Q0-01 | exon_skip_10233 | 151508256 | 151508374 | 151508255 | 151508255 | Splice_Site | G | A | e17-1 |
| - 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 |
| LU65_LUNG | 151498118 | 151498266 | 151498152 | 151498152 | Missense_Mutation | T | C | p.M550T |
| M00921_SKIN | 151498118 | 151498266 | 151498179 | 151498179 | Missense_Mutation | G | A | p.R559K |
| NUGC4_STOMACH | 151504878 | 151505048 | 151504959 | 151504959 | Missense_Mutation | C | T | p.R885W |
| SNU1040_LARGE_INTESTINE | 151504878 | 151505048 | 151504959 | 151504959 | Missense_Mutation | C | T | p.R885W |
| CJM_SKIN | 151504878 | 151505048 | 151504959 | 151504959 | Missense_Mutation | C | T | p.R885W |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 151504878 | 151505048 | 151504990 | 151504990 | Missense_Mutation | A | G | p.K895R |
| CHLA266_SOFT_TISSUE | 151508256 | 151508374 | 151508274 | 151508274 | Missense_Mutation | C | T | p.R1033W |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CGN |
| 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 CGN |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CGN |
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RelatedDrugs for CGN |
| 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 CGN |
| 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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