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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 CARD14 |
 Gene summary |
| Gene information | Gene symbol | CARD14 | Gene ID | 79092 |
| Gene name | caspase recruitment domain family member 14 | |
| Synonyms | BIMP2|CARMA2|PRP|PSORS2|PSS1 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | caspase recruitment domain-containing protein 14CARD-containing MAGUK protein 2bcl10-interacting maguk protein 2 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BXL6 | |
| Context | PubMed: CARD14 [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 |
| CARD14 | GO:0001934 | positive regulation of protein phosphorylation | 11278692 |
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Exon skipping events across known transcript of Ensembl for CARD14 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 CARD14 |
| 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 CARD14 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_284117 | 17 | 78143832:78143855:78146704:78147027:78152306:78152454 | 78146704:78147027 | ENSG00000141527.12 | ENST00000573489.1,ENST00000573882.1 |
| exon_skip_284124 | 17 | 78152324:78152454:78152902:78153100:78155217:78155368 | 78152902:78153100 | ENSG00000141527.12 | ENST00000575465.2,ENST00000576785.1 |
| exon_skip_284128 | 17 | 78162175:78162343:78163551:78163671:78164572:78164698 | 78163551:78163671 | ENSG00000141527.12 | ENST00000570421.1,ENST00000573754.1,ENST00000344227.2,ENST00000573882.1,ENST00000392434.2,ENST00000571450.1,ENST00000571861.1 |
| exon_skip_284130 | 17 | 78164640:78164698:78165121:78165271:78166301:78166418 | 78165121:78165271 | ENSG00000141527.12 | ENST00000570421.1,ENST00000573754.1,ENST00000344227.2,ENST00000573882.1,ENST00000392434.2,ENST00000571450.1,ENST00000571861.1,ENST00000575500.1 |
| exon_skip_284131 | 17 | 78169359:78169451:78171897:78171961:78172197:78172390 | 78171897:78171961 | ENSG00000141527.12 | ENST00000570421.1,ENST00000573754.1,ENST00000344227.2,ENST00000573882.1,ENST00000392434.2,ENST00000571450.1,ENST00000575500.1 |
| exon_skip_284143 | 17 | 78172264:78172390:78175542:78175669:78175978:78176219 | 78175542:78175669 | ENSG00000141527.12 | ENST00000570421.1,ENST00000344227.2,ENST00000573882.1,ENST00000575500.1 |
| exon_skip_284144 | 17 | 78175978:78176219:78177620:78177684:78178025:78178034 | 78177620:78177684 | ENSG00000141527.12 | ENST00000344227.2,ENST00000573882.1,ENST00000571450.1,ENST00000575500.1 |
| exon_skip_284157 | 17 | 78177620:78177684:78178025:78178140:78178833:78179004 | 78178025:78178140 | ENSG00000141527.12 | ENST00000344227.2,ENST00000573882.1 |
| exon_skip_284159 | 17 | 78177620:78177684:78178025:78178150:78178833:78179004 | 78178025:78178150 | ENSG00000141527.12 | ENST00000575500.1 |
| exon_skip_284160 | 17 | 78178833:78179004:78179329:78179451:78180768:78180884 | 78179329:78179451 | ENSG00000141527.12 | ENST00000344227.2,ENST00000573882.1,ENST00000575500.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CARD14 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_284117 | 17 | 78143832:78143855:78146704:78147027:78152306:78152454 | 78146704:78147027 | ENSG00000141527.12 | ENST00000573489.1,ENST00000573882.1 |
| exon_skip_284124 | 17 | 78152324:78152454:78152902:78153100:78155217:78155368 | 78152902:78153100 | ENSG00000141527.12 | ENST00000576785.1,ENST00000575465.2 |
| exon_skip_284128 | 17 | 78162175:78162343:78163551:78163671:78164572:78164698 | 78163551:78163671 | ENSG00000141527.12 | ENST00000573882.1,ENST00000344227.2,ENST00000570421.1,ENST00000571450.1,ENST00000392434.2,ENST00000573754.1,ENST00000571861.1 |
| exon_skip_284130 | 17 | 78164640:78164698:78165121:78165271:78166301:78166418 | 78165121:78165271 | ENSG00000141527.12 | ENST00000573882.1,ENST00000575500.1,ENST00000344227.2,ENST00000570421.1,ENST00000571450.1,ENST00000392434.2,ENST00000573754.1,ENST00000571861.1 |
| exon_skip_284131 | 17 | 78169359:78169451:78171897:78171961:78172197:78172390 | 78171897:78171961 | ENSG00000141527.12 | ENST00000573882.1,ENST00000575500.1,ENST00000344227.2,ENST00000570421.1,ENST00000571450.1,ENST00000392434.2,ENST00000573754.1 |
| exon_skip_284143 | 17 | 78172264:78172390:78175542:78175669:78175978:78176219 | 78175542:78175669 | ENSG00000141527.12 | ENST00000573882.1,ENST00000575500.1,ENST00000344227.2,ENST00000570421.1 |
| exon_skip_284144 | 17 | 78175978:78176219:78177620:78177684:78178025:78178034 | 78177620:78177684 | ENSG00000141527.12 | ENST00000573882.1,ENST00000575500.1,ENST00000344227.2,ENST00000571450.1 |
| exon_skip_284157 | 17 | 78177620:78177684:78178025:78178140:78178833:78179004 | 78178025:78178140 | ENSG00000141527.12 | ENST00000573882.1,ENST00000344227.2 |
| exon_skip_284159 | 17 | 78177620:78177684:78178025:78178150:78178833:78179004 | 78178025:78178150 | ENSG00000141527.12 | ENST00000575500.1 |
| exon_skip_284160 | 17 | 78178833:78179004:78179329:78179451:78180768:78180884 | 78179329:78179451 | ENSG00000141527.12 | ENST00000573882.1,ENST00000575500.1,ENST00000344227.2 |
| 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 CARD14 |
| 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 |
| ENST00000573882 | 78146704 | 78147027 | 5UTR-5UTR |
| ENST00000344227 | 78171897 | 78171961 | Frame-shift |
| ENST00000573882 | 78171897 | 78171961 | Frame-shift |
| ENST00000344227 | 78175542 | 78175669 | Frame-shift |
| ENST00000573882 | 78175542 | 78175669 | Frame-shift |
| ENST00000344227 | 78177620 | 78177684 | Frame-shift |
| ENST00000573882 | 78177620 | 78177684 | Frame-shift |
| ENST00000344227 | 78178025 | 78178140 | Frame-shift |
| ENST00000573882 | 78178025 | 78178140 | Frame-shift |
| ENST00000344227 | 78179329 | 78179451 | Frame-shift |
| ENST00000573882 | 78179329 | 78179451 | Frame-shift |
| ENST00000344227 | 78163551 | 78163671 | In-frame |
| ENST00000573882 | 78163551 | 78163671 | In-frame |
| ENST00000344227 | 78165121 | 78165271 | In-frame |
| ENST00000573882 | 78165121 | 78165271 | 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 |
| ENST00000573882 | 78146704 | 78147027 | 5UTR-5UTR |
| ENST00000344227 | 78171897 | 78171961 | Frame-shift |
| ENST00000573882 | 78171897 | 78171961 | Frame-shift |
| ENST00000344227 | 78175542 | 78175669 | Frame-shift |
| ENST00000573882 | 78175542 | 78175669 | Frame-shift |
| ENST00000344227 | 78177620 | 78177684 | Frame-shift |
| ENST00000573882 | 78177620 | 78177684 | Frame-shift |
| ENST00000344227 | 78178025 | 78178140 | Frame-shift |
| ENST00000573882 | 78178025 | 78178140 | Frame-shift |
| ENST00000344227 | 78179329 | 78179451 | Frame-shift |
| ENST00000573882 | 78179329 | 78179451 | Frame-shift |
| ENST00000344227 | 78163551 | 78163671 | In-frame |
| ENST00000573882 | 78163551 | 78163671 | In-frame |
| ENST00000344227 | 78165121 | 78165271 | In-frame |
| ENST00000573882 | 78165121 | 78165271 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CARD14 |
| 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 |
| ENST00000344227 | 3944 | 1004 | 78163551 | 78163671 | 1045 | 1164 | 281 | 321 |
| ENST00000573882 | 4554 | 1004 | 78163551 | 78163671 | 1380 | 1499 | 281 | 321 |
| ENST00000344227 | 3944 | 1004 | 78165121 | 78165271 | 1291 | 1440 | 363 | 413 |
| ENST00000573882 | 4554 | 1004 | 78165121 | 78165271 | 1626 | 1775 | 363 | 413 |
| 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 |
| ENST00000344227 | 3944 | 1004 | 78163551 | 78163671 | 1045 | 1164 | 281 | 321 |
| ENST00000573882 | 4554 | 1004 | 78163551 | 78163671 | 1380 | 1499 | 281 | 321 |
| ENST00000344227 | 3944 | 1004 | 78165121 | 78165271 | 1291 | 1440 | 363 | 413 |
| ENST00000573882 | 4554 | 1004 | 78165121 | 78165271 | 1626 | 1775 | 363 | 413 |
| 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 |
| Q9BXL6 | 281 | 321 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 281 | 321 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 281 | 321 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 281 | 321 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 281 | 321 | 285 | 285 | Natural variant | ID=VAR_068234;Note=May be associated with susceptibility to psoriasis. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875219,PMID:22521419 |
| Q9BXL6 | 281 | 321 | 285 | 285 | Natural variant | ID=VAR_068234;Note=May be associated with susceptibility to psoriasis. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875219,PMID:22521419 |
| Q9BXL6 | 363 | 413 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 363 | 413 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 363 | 413 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 363 | 413 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 363 | 413 | 409 | 568 | Region | Note=Maintains the protein in an inactive state;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27071417;Dbxref=PMID:27071417 |
| Q9BXL6 | 363 | 413 | 409 | 568 | Region | Note=Maintains the protein in an inactive state;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27071417;Dbxref=PMID:27071417 |
| 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 |
| Q9BXL6 | 281 | 321 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 281 | 321 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 281 | 321 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 281 | 321 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 281 | 321 | 285 | 285 | Natural variant | ID=VAR_068234;Note=May be associated with susceptibility to psoriasis. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875219,PMID:22521419 |
| Q9BXL6 | 281 | 321 | 285 | 285 | Natural variant | ID=VAR_068234;Note=May be associated with susceptibility to psoriasis. D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22521419;Dbxref=dbSNP:rs281875219,PMID:22521419 |
| Q9BXL6 | 363 | 413 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 363 | 413 | 1 | 1004 | Chain | ID=PRO_0000144088;Note=Caspase recruitment domain-containing protein 14 |
| Q9BXL6 | 363 | 413 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 363 | 413 | 128 | 409 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BXL6 | 363 | 413 | 409 | 568 | Region | Note=Maintains the protein in an inactive state;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27071417;Dbxref=PMID:27071417 |
| Q9BXL6 | 363 | 413 | 409 | 568 | Region | Note=Maintains the protein in an inactive state;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:27071417;Dbxref=PMID:27071417 |
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SNVs in the skipped exons for CARD14 |
| - 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-A1EG-01 | exon_skip_284130 | 78165122 | 78165271 | 78165183 | 78165183 | Frame_Shift_Del | C | - | p.S384fs |
| LUAD | TCGA-05-4397-01 | exon_skip_284143 | 78175543 | 78175669 | 78175564 | 78175564 | Frame_Shift_Del | C | - | p.P625fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_284157 | 78178026 | 78178140 | 78178035 | 78178035 | Frame_Shift_Del | G | - | p.G766fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_284159 | 78178026 | 78178150 | 78178035 | 78178035 | Frame_Shift_Del | G | - | p.G766fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_284157 | 78178026 | 78178140 | 78178111 | 78178111 | Frame_Shift_Del | G | - | p.R790fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_284159 | 78178026 | 78178150 | 78178111 | 78178111 | Frame_Shift_Del | G | - | p.R790fs |
| SKCM | TCGA-EB-A44O-01 | exon_skip_284128 | 78163552 | 78163671 | 78163600 | 78163600 | Nonsense_Mutation | C | T | p.R298* |
| SKCM | TCGA-EB-A44O-01 | exon_skip_284128 | 78163552 | 78163671 | 78163600 | 78163600 | Nonsense_Mutation | C | T | p.R61X |
| CESC | TCGA-IR-A3LK-01 | exon_skip_284144 | 78177621 | 78177684 | 78177625 | 78177625 | Nonsense_Mutation | C | T | p.Q742* |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_284128 | 78163552 | 78163671 | 78163550 | 78163550 | Splice_Site | A | G | . |
| SKCM | TCGA-EE-A2MC-06 | exon_skip_284130 | 78165122 | 78165271 | 78165120 | 78165120 | Splice_Site | A | C | . |
| BLCA | TCGA-GV-A3QI-01 | exon_skip_284160 | 78179330 | 78179451 | 78179329 | 78179329 | Splice_Site | G | C | p.E857_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 |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78175543 | 78175669 | 78175615 | 78175616 | Frame_Shift_Ins | - | T | p.L642fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78163552 | 78163671 | 78163642 | 78163642 | Missense_Mutation | G | A | p.A312T |
| MALME3M_SKIN | 78165122 | 78165271 | 78165242 | 78165242 | Missense_Mutation | C | T | p.R404C |
| LI7_LIVER | 78171898 | 78171961 | 78171934 | 78171934 | Missense_Mutation | C | T | p.S544F |
| HUTU80_SMALL_INTESTINE | 78175543 | 78175669 | 78175624 | 78175624 | Missense_Mutation | A | G | p.R645G |
| NCIH630_LARGE_INTESTINE | 78175543 | 78175669 | 78175664 | 78175664 | Missense_Mutation | C | T | p.T658M |
| CHSA0108_BONE | 78177621 | 78177684 | 78177638 | 78177638 | Missense_Mutation | T | C | p.I746T |
| CAL33_UPPER_AERODIGESTIVE_TRACT | 78177621 | 78177684 | 78177658 | 78177658 | Missense_Mutation | A | G | p.T753A |
| A388_SKIN | 78179330 | 78179451 | 78179374 | 78179374 | Missense_Mutation | G | A | p.D872N |
| NCCIT_TESTIS | 78179330 | 78179451 | 78179388 | 78179389 | Missense_Mutation | GG | AA | p.G877R |
| MM415_SKIN | 78165122 | 78165271 | 78165161 | 78165161 | Nonsense_Mutation | C | T | p.Q377* |
| DOTC24510_CERVIX | 78177621 | 78177684 | 78177649 | 78177649 | Nonsense_Mutation | C | T | p.Q750* |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 78179330 | 78179451 | 78179383 | 78179383 | Nonsense_Mutation | C | T | p.Q875* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CARD14 |
| 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_284131 | 17 | 78169359:78169451:78171897:78171961:78172197:78172390 | 78171897:78171961 | ENST00000570421.1,ENST00000573754.1,ENST00000344227.2,ENST00000573882.1,ENST00000392434.2,ENST00000571450.1,ENST00000575500.1 | READ | rs2066964 | chr17:78171944 | C/G | 4.60e-04 |
| exon_skip_284131 | 17 | 78169359:78169451:78171897:78171961:78172197:78172390 | 78171897:78171961 | ENST00000570421.1,ENST00000573754.1,ENST00000344227.2,ENST00000573882.1,ENST00000392434.2,ENST00000571450.1,ENST00000575500.1 | READ | rs2066964 | chr17:78171944 | C/G | 4.60e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CARD14 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CARD14 |
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RelatedDrugs for CARD14 |
| 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 CARD14 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CARD14 | C0033860 | Psoriasis | 2 | CTD_human |
| CARD14 | C1864497 | PSORIASIS 2 | 2 | UNIPROT |
| CARD14 | C0032027 | Pityriasis Rubra Pilaris | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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