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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 CARD11 |
 Gene summary |
| Gene information | Gene symbol | CARD11 | Gene ID | 84433 |
| Gene name | caspase recruitment domain family member 11 | |
| Synonyms | BENTA|BIMP3|CARMA1|IMD11|IMD11A|PPBL | |
| Cytomap | 7p22.2 | |
| Type of gene | protein-coding | |
| Description | caspase recruitment domain-containing protein 11CARD-containing MAGUK protein 1bcl10-interacting maguk protein 3carma 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BXL7 | |
| Context | PubMed: CARD11 [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 |
| CARD11 | GO:0031295 | T cell costimulation | 17287217 |
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Exon skipping events across known transcript of Ensembl for CARD11 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 CARD11 |
| 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 CARD11 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473372 | 7 | 2976670:2976868:2977540:2977666:2978312:2978465 | 2977540:2977666 | ENSG00000198286.5 | ENST00000396946.4 |
| exon_skip_473374 | 7 | 2998133:2998265:3020153:3020214:3083300:3083479 | 3020153:3020214 | ENSG00000198286.5 | ENST00000356408.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CARD11 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_473372 | 7 | 2976670:2976868:2977540:2977666:2978312:2978465 | 2977540:2977666 | ENSG00000198286.5 | ENST00000396946.4 |
| exon_skip_473374 | 7 | 2998133:2998265:3020153:3020214:3083300:3083479 | 3020153:3020214 | ENSG00000198286.5 | ENST00000356408.3 |
| 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 CARD11 |
| 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 |
| ENST00000396946 | 2977540 | 2977666 | 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 |
| ENST00000396946 | 2977540 | 2977666 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CARD11 |
| 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 |
| ENST00000396946 | 4383 | 1154 | 2977540 | 2977666 | 1422 | 1547 | 339 | 381 |
| 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 |
| ENST00000396946 | 4383 | 1154 | 2977540 | 2977666 | 1422 | 1547 | 339 | 381 |
| 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 |
| Q9BXL7 | 339 | 381 | 1 | 1154 | Chain | ID=PRO_0000144086;Note=Caspase recruitment domain-containing protein 11 |
| Q9BXL7 | 339 | 381 | 130 | 449 | 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 |
| Q9BXL7 | 339 | 381 | 1 | 1154 | Chain | ID=PRO_0000144086;Note=Caspase recruitment domain-containing protein 11 |
| Q9BXL7 | 339 | 381 | 130 | 449 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CARD11 |
| - 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 |
| - 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 |
| HEC1_ENDOMETRIUM | 2977541 | 2977666 | 2977555 | 2977555 | Missense_Mutation | G | A | p.R377W |
| NCIH1155_LUNG | 2977541 | 2977666 | 2977584 | 2977584 | Missense_Mutation | G | A | p.T367M |
| CAL51_BREAST | 2977541 | 2977666 | 2977585 | 2977585 | Missense_Mutation | T | C | p.T367A |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 2977541 | 2977666 | 2977614 | 2977614 | Missense_Mutation | T | A | p.D357V |
| HS939T_SKIN | 2977541 | 2977666 | 2977621 | 2977621 | Missense_Mutation | C | T | p.G355R |
| HOP92_LUNG | 2977541 | 2977666 | 2977642 | 2977642 | Nonsense_Mutation | C | A | p.E348* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CARD11 |
| 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 CARD11 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CARD11 |
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RelatedDrugs for CARD11 |
| 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 CARD11 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CARD11 | C0036920 | Sezary Syndrome | 2 | CTD_human |
| CARD11 | C0079744 | Diffuse Large B-Cell Lymphoma | 2 | CTD_human |
| CARD11 | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
| CARD11 | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
| CARD11 | C0023493 | Adult T-Cell Lymphoma/Leukemia | 1 | CTD_human |
| CARD11 | C0079773 | Lymphoma, T-Cell, Cutaneous | 1 | CTD_human |
| CARD11 | C1847973 | Persistent Polyclonal B-Cell Lymphocytosis | 1 | ORPHANET;UNIPROT |
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