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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 CARF |
 Gene summary |
| Gene information | Gene symbol | CARF | Gene ID | 79800 |
| Gene name | calcium responsive transcription factor | |
| Synonyms | ALS2CR8|NYD-SP24 | |
| Cytomap | 2q33.2 | |
| Type of gene | protein-coding | |
| Description | calcium-responsive transcription factoramyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 proteincalcium-response factortestis development protein NYD-SP24 | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N187 | |
| Context | PubMed: CARF [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 |
| CARF | GO:0035865 | cellular response to potassium ion | 22174809 |
| CARF | GO:0061400 | positive regulation of transcription from RNA polymerase II promoter in response to calcium ion | 11832226|22174809 |
| CARF | GO:0071277 | cellular response to calcium ion | 11832226|22174809 |
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Exon skipping events across known transcript of Ensembl for CARF 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 CARF |
| 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 CARF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332566 | 2 | 203777014:203777047:203777756:203777825:203782599:203782766 | 203777756:203777825 | ENSG00000138380.13 | ENST00000414857.1 |
| exon_skip_332567 | 2 | 203777014:203777047:203777756:203777837:203782599:203782766 | 203777756:203777837 | ENSG00000138380.13 | ENST00000545262.1,ENST00000447539.1,ENST00000427712.1 |
| exon_skip_332569 | 2 | 203782599:203782766:203789019:203789138:203806582:203806689 | 203789019:203789138 | ENSG00000138380.13 | ENST00000432024.1,ENST00000438828.2 |
| exon_skip_332570 | 2 | 203782599:203782766:203789019:203789138:203807462:203807547 | 203789019:203789138 | ENSG00000138380.13 | ENST00000445120.1 |
| exon_skip_332571 | 2 | 203782599:203782766:203789019:203789138:203817281:203817343 | 203789019:203789138 | ENSG00000138380.13 | ENST00000434998.1 |
| exon_skip_332573 | 2 | 203782599:203782766:203789079:203789138:203806582:203806689 | 203789079:203789138 | ENSG00000138380.13 | ENST00000443740.1,ENST00000427712.1 |
| exon_skip_332574 | 2 | 203782599:203782766:203789079:203789138:203807462:203807547 | 203789079:203789138 | ENSG00000138380.13 | ENST00000431787.1 |
| exon_skip_332576 | 2 | 203782599:203782766:203799224:203799322:203806582:203806689 | 203799224:203799322 | ENSG00000138380.13 | ENST00000441569.1 |
| exon_skip_332577 | 2 | 203782599:203782766:203802996:203803118:203806582:203806689 | 203802996:203803118 | ENSG00000138380.13 | ENST00000414490.1 |
| exon_skip_332578 | 2 | 203782599:203782766:203806582:203806703:203807462:203807547 | 203806582:203806703 | ENSG00000138380.13 | ENST00000471271.1,ENST00000444724.1,ENST00000402905.3,ENST00000414857.1 |
| exon_skip_332580 | 2 | 203782599:203782766:203806582:203806703:203817281:203817343 | 203806582:203806703 | ENSG00000138380.13 | ENST00000545262.1,ENST00000428585.1,ENST00000447539.1 |
| exon_skip_332581 | 2 | 203782599:203782766:203807462:203807690:203817281:203817343 | 203807462:203807690 | ENSG00000138380.13 | ENST00000456821.2,ENST00000422368.1,ENST00000457031.1 |
| exon_skip_332583 | 2 | 203789079:203789138:203799224:203799322:203806582:203806689 | 203799224:203799322 | ENSG00000138380.13 | ENST00000430899.1 |
| exon_skip_332584 | 2 | 203789079:203789138:203806582:203806703:203807462:203807547 | 203806582:203806703 | ENSG00000138380.13 | ENST00000443740.1,ENST00000432024.1,ENST00000438828.2 |
| exon_skip_332587 | 2 | 203806596:203806703:203807462:203807690:203817281:203817343 | 203807462:203807690 | ENSG00000138380.13 | ENST00000320443.8,ENST00000471271.1,ENST00000444724.1,ENST00000402905.3,ENST00000414857.1,ENST00000438828.2 |
| exon_skip_332588 | 2 | 203806596:203806703:203807485:203807690:203817281:203817343 | 203807485:203807690 | ENSG00000138380.13 | ENST00000427712.1 |
| exon_skip_332593 | 2 | 203818727:203818857:203820396:203820481:203825959:203826149 | 203820396:203820481 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000444724.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000422368.1,ENST00000438828.2,ENST00000434998.1,ENST00000414439.1 |
| exon_skip_332598 | 2 | 203820396:203820481:203825959:203826149:203831700:203831735 | 203825959:203826149 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000422368.1,ENST00000438828.2,ENST00000414439.1 |
| exon_skip_332601 | 2 | 203825959:203826149:203831700:203831821:203834641:203834785 | 203831700:203831821 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000422368.1,ENST00000438828.2,ENST00000414439.1 |
| exon_skip_332602 | 2 | 203836227:203836461:203838204:203838307:203839056:203839077 | 203838204:203838307 | ENSG00000138380.13 | ENST00000422368.1 |
| exon_skip_332604 | 2 | 203836227:203836461:203839056:203839219:203841991:203842055 | 203839056:203839219 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000438828.2,ENST00000414439.1 |
| exon_skip_332605 | 2 | 203841991:203842055:203846277:203846408:203846794:203847164 | 203846277:203846408 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000438828.2,ENST00000414439.1 |
| exon_skip_332606 | 2 | 203846277:203846408:203846794:203847164:203848228:203848365 | 203846794:203847164 | ENSG00000138380.13 | ENST00000320443.8,ENST00000545262.1,ENST00000402905.3,ENST00000545253.1,ENST00000428585.1,ENST00000438828.2,ENST00000414439.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CARF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332566 | 2 | 203777014:203777047:203777756:203777825:203782599:203782766 | 203777756:203777825 | ENSG00000138380.13 | ENST00000414857.1 |
| exon_skip_332567 | 2 | 203777014:203777047:203777756:203777837:203782599:203782766 | 203777756:203777837 | ENSG00000138380.13 | ENST00000545262.1,ENST00000447539.1,ENST00000427712.1 |
| exon_skip_332568 | 2 | 203782599:203782766:203789019:203789138:203799224:203799322 | 203789019:203789138 | ENSG00000138380.13 | ENST00000430899.1 |
| exon_skip_332569 | 2 | 203782599:203782766:203789019:203789138:203806582:203806689 | 203789019:203789138 | ENSG00000138380.13 | ENST00000432024.1,ENST00000438828.2 |
| exon_skip_332570 | 2 | 203782599:203782766:203789019:203789138:203807462:203807547 | 203789019:203789138 | ENSG00000138380.13 | ENST00000445120.1 |
| exon_skip_332571 | 2 | 203782599:203782766:203789019:203789138:203817281:203817343 | 203789019:203789138 | ENSG00000138380.13 | ENST00000434998.1 |
| exon_skip_332573 | 2 | 203782599:203782766:203789079:203789138:203806582:203806689 | 203789079:203789138 | ENSG00000138380.13 | ENST00000443740.1,ENST00000427712.1 |
| exon_skip_332574 | 2 | 203782599:203782766:203789079:203789138:203807462:203807547 | 203789079:203789138 | ENSG00000138380.13 | ENST00000431787.1 |
| exon_skip_332576 | 2 | 203782599:203782766:203799224:203799322:203806582:203806689 | 203799224:203799322 | ENSG00000138380.13 | ENST00000441569.1 |
| exon_skip_332577 | 2 | 203782599:203782766:203802996:203803118:203806582:203806689 | 203802996:203803118 | ENSG00000138380.13 | ENST00000414490.1 |
| exon_skip_332578 | 2 | 203782599:203782766:203806582:203806703:203807462:203807547 | 203806582:203806703 | ENSG00000138380.13 | ENST00000402905.3,ENST00000444724.1,ENST00000414857.1,ENST00000471271.1 |
| exon_skip_332580 | 2 | 203782599:203782766:203806582:203806703:203817281:203817343 | 203806582:203806703 | ENSG00000138380.13 | ENST00000428585.1,ENST00000545262.1,ENST00000447539.1 |
| exon_skip_332581 | 2 | 203782599:203782766:203807462:203807690:203817281:203817343 | 203807462:203807690 | ENSG00000138380.13 | ENST00000422368.1,ENST00000457031.1,ENST00000456821.2 |
| exon_skip_332583 | 2 | 203789079:203789138:203799224:203799322:203806582:203806689 | 203799224:203799322 | ENSG00000138380.13 | ENST00000430899.1 |
| exon_skip_332584 | 2 | 203789079:203789138:203806582:203806703:203807462:203807547 | 203806582:203806703 | ENSG00000138380.13 | ENST00000432024.1,ENST00000443740.1,ENST00000438828.2 |
| exon_skip_332586 | 2 | 203789079:203789138:203807462:203807690:203817281:203817343 | 203807462:203807690 | ENSG00000138380.13 | ENST00000431787.1 |
| exon_skip_332587 | 2 | 203806596:203806703:203807462:203807690:203817281:203817343 | 203807462:203807690 | ENSG00000138380.13 | ENST00000402905.3,ENST00000444724.1,ENST00000414857.1,ENST00000471271.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332588 | 2 | 203806596:203806703:203807485:203807690:203817281:203817343 | 203807485:203807690 | ENSG00000138380.13 | ENST00000427712.1 |
| exon_skip_332593 | 2 | 203818727:203818857:203820396:203820481:203825959:203826149 | 203820396:203820481 | ENSG00000138380.13 | ENST00000402905.3,ENST00000444724.1,ENST00000422368.1,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000434998.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332598 | 2 | 203820396:203820481:203825959:203826149:203831700:203831735 | 203825959:203826149 | ENSG00000138380.13 | ENST00000402905.3,ENST00000422368.1,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332600 | 2 | 203820396:203820481:203831700:203831821:203834641:203834785 | 203831700:203831821 | ENSG00000138380.13 | ENST00000457031.1,ENST00000456821.2 |
| exon_skip_332601 | 2 | 203825959:203826149:203831700:203831821:203834641:203834785 | 203831700:203831821 | ENSG00000138380.13 | ENST00000402905.3,ENST00000422368.1,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332602 | 2 | 203836227:203836461:203838204:203838307:203839056:203839077 | 203838204:203838307 | ENSG00000138380.13 | ENST00000422368.1 |
| exon_skip_332604 | 2 | 203836227:203836461:203839056:203839219:203841991:203842055 | 203839056:203839219 | ENSG00000138380.13 | ENST00000402905.3,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332605 | 2 | 203841991:203842055:203846277:203846408:203846794:203847164 | 203846277:203846408 | ENSG00000138380.13 | ENST00000402905.3,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000320443.8,ENST00000438828.2 |
| exon_skip_332606 | 2 | 203846277:203846408:203846794:203847164:203848228:203848365 | 203846794:203847164 | ENSG00000138380.13 | ENST00000402905.3,ENST00000414439.1,ENST00000428585.1,ENST00000545253.1,ENST00000545262.1,ENST00000320443.8,ENST00000438828.2 |
| 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 CARF |
| 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 |
| ENST00000402905 | 203806582 | 203806703 | 5CDS-5UTR |
| ENST00000438828 | 203806582 | 203806703 | 5CDS-5UTR |
| ENST00000438828 | 203789019 | 203789138 | 5UTR-5UTR |
| ENST00000402905 | 203820396 | 203820481 | Frame-shift |
| ENST00000438828 | 203820396 | 203820481 | Frame-shift |
| ENST00000402905 | 203825959 | 203826149 | Frame-shift |
| ENST00000438828 | 203825959 | 203826149 | Frame-shift |
| ENST00000402905 | 203831700 | 203831821 | Frame-shift |
| ENST00000438828 | 203831700 | 203831821 | Frame-shift |
| ENST00000402905 | 203839056 | 203839219 | Frame-shift |
| ENST00000438828 | 203839056 | 203839219 | Frame-shift |
| ENST00000402905 | 203846277 | 203846408 | Frame-shift |
| ENST00000438828 | 203846277 | 203846408 | Frame-shift |
| ENST00000402905 | 203846794 | 203847164 | Frame-shift |
| ENST00000438828 | 203846794 | 203847164 | Frame-shift |
| ENST00000402905 | 203807462 | 203807690 | In-frame |
| ENST00000438828 | 203807462 | 203807690 | 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 |
| ENST00000402905 | 203806582 | 203806703 | 5CDS-5UTR |
| ENST00000438828 | 203806582 | 203806703 | 5CDS-5UTR |
| ENST00000438828 | 203789019 | 203789138 | 5UTR-5UTR |
| ENST00000402905 | 203820396 | 203820481 | Frame-shift |
| ENST00000438828 | 203820396 | 203820481 | Frame-shift |
| ENST00000402905 | 203825959 | 203826149 | Frame-shift |
| ENST00000438828 | 203825959 | 203826149 | Frame-shift |
| ENST00000402905 | 203831700 | 203831821 | Frame-shift |
| ENST00000438828 | 203831700 | 203831821 | Frame-shift |
| ENST00000402905 | 203839056 | 203839219 | Frame-shift |
| ENST00000438828 | 203839056 | 203839219 | Frame-shift |
| ENST00000402905 | 203846277 | 203846408 | Frame-shift |
| ENST00000438828 | 203846277 | 203846408 | Frame-shift |
| ENST00000402905 | 203846794 | 203847164 | Frame-shift |
| ENST00000438828 | 203846794 | 203847164 | Frame-shift |
| ENST00000402905 | 203807462 | 203807690 | In-frame |
| ENST00000438828 | 203807462 | 203807690 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CARF |
| 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 |
| ENST00000402905 | 5955 | 725 | 203807462 | 203807690 | 400 | 627 | 26 | 102 |
| ENST00000438828 | 3591 | 725 | 203807462 | 203807690 | 910 | 1137 | 26 | 102 |
| 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 |
| ENST00000402905 | 5955 | 725 | 203807462 | 203807690 | 400 | 627 | 26 | 102 |
| ENST00000438828 | 3591 | 725 | 203807462 | 203807690 | 910 | 1137 | 26 | 102 |
| 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 CARF |
| - 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 |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_332604 | 203839057 | 203839219 | 203839141 | 203839141 | Frame_Shift_Del | A | - | p.I472fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332606 | 203846795 | 203847164 | 203846976 | 203846976 | Frame_Shift_Del | A | - | p.Q624fs |
| HNSC | TCGA-D6-A6EK-01 | exon_skip_332606 | 203846795 | 203847164 | 203847093 | 203847106 | Frame_Shift_Del | CTGTTCATCGGATT | - | p.TVHRI663fs |
| HNSC | TCGA-CV-A6K2-01 | exon_skip_332604 | 203839057 | 203839219 | 203839200 | 203839200 | Nonsense_Mutation | C | G | p.S492* |
| ESCA | TCGA-V5-A7RC-01 | exon_skip_332588 exon_skip_332581 exon_skip_332587 | 203807486 | 203807690 | 203807485 | 203807485 | Splice_Site | G | T | e2-1 |
| - 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 |
| SNUC4_LARGE_INTESTINE | 203831701 | 203831821 | 203831759 | 203831759 | Frame_Shift_Del | A | - | p.L297fs |
| GP2D_LARGE_INTESTINE | 203831701 | 203831821 | 203831759 | 203831759 | Frame_Shift_Del | A | - | p.L297fs |
| CW2_LARGE_INTESTINE | 203831701 | 203831821 | 203831759 | 203831759 | Frame_Shift_Del | A | - | p.L297fs |
| GP5D_LARGE_INTESTINE | 203831701 | 203831821 | 203831759 | 203831759 | Frame_Shift_Del | A | - | p.L297fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203831701 | 203831821 | 203831759 | 203831759 | Frame_Shift_Del | A | - | p.L297fs |
| SNUC2A_LARGE_INTESTINE | 203839057 | 203839219 | 203839117 | 203839117 | Frame_Shift_Del | T | - | p.S464fs |
| GP2D_LARGE_INTESTINE | 203839057 | 203839219 | 203839117 | 203839117 | Frame_Shift_Del | T | - | p.S464fs |
| GP5D_LARGE_INTESTINE | 203839057 | 203839219 | 203839117 | 203839117 | Frame_Shift_Del | T | - | p.S464fs |
| SNUC2B_LARGE_INTESTINE | 203839057 | 203839219 | 203839117 | 203839117 | Frame_Shift_Del | T | - | p.S464fs |
| DU145_PROSTATE | 203839057 | 203839219 | 203839116 | 203839117 | Frame_Shift_Ins | - | T | p.SF464fs |
| SKMEL28_SKIN | 203806583 | 203806703 | 203806636 | 203806636 | Missense_Mutation | C | G | p.S4C |
| MCC26_SKIN | 203806583 | 203806703 | 203806669 | 203806669 | Missense_Mutation | G | A | p.G15D |
| LOXIMVI_SKIN | 203807486 | 203807690 | 203807494 | 203807494 | Missense_Mutation | C | T | p.S37F |
| LOXIMVI_SKIN | 203807463 | 203807690 | 203807494 | 203807494 | Missense_Mutation | C | T | p.S37F |
| NCIH1155_LUNG | 203807486 | 203807690 | 203807539 | 203807539 | Missense_Mutation | G | A | p.R52H |
| NCIH1155_LUNG | 203807463 | 203807690 | 203807539 | 203807539 | Missense_Mutation | G | A | p.R52H |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203807486 | 203807690 | 203807584 | 203807584 | Missense_Mutation | T | C | p.L67P |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203807463 | 203807690 | 203807584 | 203807584 | Missense_Mutation | T | C | p.L67P |
| SW13_ADRENAL_CORTEX | 203807486 | 203807690 | 203807643 | 203807643 | Missense_Mutation | G | T | p.A87S |
| SW13_ADRENAL_CORTEX | 203807463 | 203807690 | 203807643 | 203807643 | Missense_Mutation | G | T | p.A87S |
| HEC59_ENDOMETRIUM | 203807486 | 203807690 | 203807644 | 203807644 | Missense_Mutation | C | T | p.A87V |
| HEC59_ENDOMETRIUM | 203807463 | 203807690 | 203807644 | 203807644 | Missense_Mutation | C | T | p.A87V |
| SNU81_LARGE_INTESTINE | 203825960 | 203826149 | 203826048 | 203826048 | Missense_Mutation | T | C | p.V244A |
| SW1573_LUNG | 203831701 | 203831821 | 203831806 | 203831806 | Missense_Mutation | C | A | p.A313D |
| NCIH1155_LUNG | 203831701 | 203831821 | 203831812 | 203831812 | Missense_Mutation | G | A | p.C315Y |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203839057 | 203839219 | 203839119 | 203839119 | Missense_Mutation | T | A | p.F465Y |
| HEC59_ENDOMETRIUM | 203839057 | 203839219 | 203839128 | 203839128 | Missense_Mutation | C | T | p.T468I |
| KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203839057 | 203839219 | 203839187 | 203839187 | Missense_Mutation | A | T | p.T488S |
| CP50EBV_MATCHED_NORMAL_TISSUE | 203846278 | 203846408 | 203846349 | 203846349 | Missense_Mutation | C | T | p.P544S |
| CP50MELB_SKIN | 203846278 | 203846408 | 203846349 | 203846349 | Missense_Mutation | C | T | p.P544S |
| PACADD135_PANCREAS | 203846795 | 203847164 | 203846803 | 203846803 | Missense_Mutation | G | T | p.Q566H |
| NCIH2110_LUNG | 203846795 | 203847164 | 203846852 | 203846852 | Missense_Mutation | G | A | p.V583I |
| KYSE270_OESOPHAGUS | 203846795 | 203847164 | 203846979 | 203846979 | Missense_Mutation | A | G | p.N625S |
| IGR1_SKIN | 203846795 | 203847164 | 203846984 | 203846984 | Missense_Mutation | A | T | p.S627C |
| HCC2998_LARGE_INTESTINE | 203846795 | 203847164 | 203847006 | 203847006 | Missense_Mutation | A | G | p.N634S |
| HEC151_ENDOMETRIUM | 203846795 | 203847164 | 203847072 | 203847072 | Missense_Mutation | A | G | p.D656G |
| HEC151_ENDOMETRIUM | 203846795 | 203847164 | 203847082 | 203847082 | Missense_Mutation | T | G | p.N659K |
| NCIH28_PLEURA | 203846795 | 203847164 | 203847160 | 203847161 | Missense_Mutation | TC | AT | p.L686F |
| NCIH28_PLEURA | 203846795 | 203847164 | 203847161 | 203847161 | Missense_Mutation | C | T | p.L686F |
| MRKNU1_BREAST | 203846795 | 203847164 | 203847023 | 203847023 | Nonsense_Mutation | C | T | p.Q640* |
| SNU1196_BILIARY_TRACT | 203806583 | 203806703 | 203806703 | 203806703 | Splice_Site | G | A | p.E26E |
| HEC59_ENDOMETRIUM | 203839057 | 203839219 | 203839219 | 203839219 | Splice_Site | G | A | p.T498T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CARF |
| 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 CARF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CARF |
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RelatedDrugs for CARF |
| 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 CARF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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