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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for CLDN1 |
Gene summary |
Gene information | Gene symbol | CLDN1 | Gene ID | 9076 |
Gene name | claudin 1 | |
Synonyms | CLD1|ILVASC|SEMP1 | |
Cytomap | 3q28 | |
Type of gene | protein-coding | |
Description | claudin-1senescence-associated epithelial membrane protein 1 | |
Modification date | 20180519 | |
UniProtAcc | O95832 | |
Context | PubMed: CLDN1 [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 CLDN1 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 CLDN1 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for CLDN1 |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_390839 | 3 | 190023489:190026228:190027957:190028042:190030660:190030825 | 190027957:190028042 | ENSG00000163347.5 | ENST00000295522.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CLDN1 |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_390839 | 3 | 190023489:190026228:190027957:190028042:190030660:190030825 | 190027957:190028042 | ENSG00000163347.5 | ENST00000295522.3 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for CLDN1 |
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 |
ENST00000295522 | 190027957 | 190028042 | Frame-shift |
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 |
ENST00000295522 | 190027957 | 190028042 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CLDN1 |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 |
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 |
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 |
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 |
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SNVs in the skipped exons for CLDN1 |
- Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
- 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 |
- 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 |
GOS3_CENTRAL_NERVOUS_SYSTEM | 190027958 | 190028042 | 190027971 | 190027971 | Missense_Mutation | G | A | p.P154S |
CAPAN1_PANCREAS | 190027958 | 190028042 | 190027990 | 190027990 | Missense_Mutation | T | G | p.E147D |
HCC2998_LARGE_INTESTINE | 190027958 | 190028042 | 190028003 | 190028003 | Missense_Mutation | C | A | p.R143I |
GMEL_SKIN | 190027958 | 190028042 | 190028034 | 190028034 | Missense_Mutation | T | C | p.I133V |
C75_LARGE_INTESTINE | 190027958 | 190028042 | 190028039 | 190028039 | Missense_Mutation | A | C | p.L131R |
HCC2998_LARGE_INTESTINE | 190027958 | 190028042 | 190027992 | 190027992 | Nonsense_Mutation | C | A | p.E147* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CLDN1 |
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 CLDN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CLDN1 |
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RelatedDrugs for CLDN1 |
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 CLDN1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
CLDN1 | C1458155 | Mammary Neoplasms | 2 | CTD_human |
CLDN1 | C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
CLDN1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
CLDN1 | C0014175 | Endometriosis | 1 | CTD_human |